Chromosome 14: Difference between revisions
Clarification about gene number prediction and CCDS's strategy |
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{{Short description|Human chromosome}} |
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{{Infobox chromosome |
{{Infobox chromosome |
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| image = Human male karyotpe high resolution - Chromosome 14 cropped.png |
| image = Human male karyotpe high resolution - Chromosome 14 cropped.png |
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| image2 = Human male karyotpe high resolution - Chromosome 14.png |
| image2 = Human male karyotpe high resolution - Chromosome 14.png |
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| caption2 = Chromosome 14 pair<br/> in human male [[karyogram]]. |
| caption2 = Chromosome 14 pair<br/> in human male [[karyogram]]. |
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| length_bp = 101,161,492 bp<br/>(CHM13) |
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| length_bp = 107,043,718 bp<br/>([[GRCh38]])<ref name="National Center for Biotechnology Information 2017">{{cite web | title=Human Genome Assembly GRCh38 - Genome Reference Consortium | website=National Center for Biotechnology Information | date=2013-12-24 | url=https://www.ncbi.nlm.nih.gov/grc/human/data?asm=GRCh38 | language=en | accessdate=2017-03-04}}</ref> |
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| genes = 583 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/> |
| genes = 583 ([[Consensus CDS Project|CCDS]])<ref name="CCDS"/> |
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| type = [[Autosome]] |
| type = [[Autosome]] |
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| centromere_position = [[Centromere#Acrocentric|Acrocentric]]<ref name="StrachanRead2010">{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}}</ref><br/>(17.2 Mbp<ref name="850bphs">Genome Decoration Page, NCBI. [ |
| centromere_position = [[Centromere#Acrocentric|Acrocentric]]<ref name="StrachanRead2010">{{cite book|author1=Tom Strachan|author2=Andrew Read|title=Human Molecular Genetics|url=https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45|date=2 April 2010|publisher=Garland Science|isbn=978-1-136-84407-2|page=45}}</ref><br/>(17.2 Mbp<ref name="850bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>) |
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| chr = 14 |
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| ensembl_id = 14 |
| ensembl_id = 14 |
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| entrez_id = 14 |
| entrez_id = 14 |
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==Genes== |
==Genes== |
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=== Number of genes === |
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⚫ | |||
The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to [[genome annotation]] their predictions of the [[number of genes]] on each chromosome varies (for technical details, see [[gene prediction]]). Among various projects, the collaborative consensus coding sequence project ([[Consensus CDS Project|CCDS]]) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.<ref name="pmid20441615">{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | |
The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to [[genome annotation]] their predictions of the [[number of genes]] on each chromosome varies (for technical details, see [[gene prediction]]). Among various projects, the collaborative consensus coding sequence project ([[Consensus CDS Project|CCDS]]) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.<ref name="pmid20441615">{{cite journal| author=Pertea M, Salzberg SL| title=Between a chicken and a grape: estimating the number of human genes. | journal=Genome Biol | year= 2010 | volume= 11 | issue= 5 | pages= 206 | pmid=20441615 | doi=10.1186/gb-2010-11-5-206 | pmc=2898077 | doi-access=free }} </ref> |
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When simply saying "number of genes", in most cases, it refers only to "number of protein-coding genes". |
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{| class="wikitable" style="text-align:right" |
{| class="wikitable" style="text-align:right" |
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| Estimated by || [[Protein-coding genes]] || [[Non-coding RNA|Non-coding RNA gene]]s || [[Pseudogene]]s || Source || Release date |
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! Estimated by |
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⚫ | |||
! [[Protein-coding genes]] |
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⚫ | |style="text-align:center"| <ref name="CCDS">{{cite web | title=Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) |
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! [[Non-coding RNA|Non-coding RNA gene]]s |
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! [[Pseudogene]]s |
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! Source |
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! Release date |
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|- |
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⚫ | |||
⚫ | |style="text-align:center"| <ref name="CCDS">{{cite web | title=Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene | website= NCBI |version = CCDS Release 20 for ''Homo sapiens'' | url=https://www.ncbi.nlm.nih.gov/gene?term=14%5BChr%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22has%20ccds%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch |date=2016-09-08 | access-date=2017-05-28}}</ref> |
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| 2016-09-08 |
| 2016-09-08 |
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|- |
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| [[HUGO Gene Nomenclature Committee|HGNC]]|| 593 || 324 || 513 |
| [[HUGO Gene Nomenclature Committee|HGNC]]|| 593 || 324 || 513 |
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|style="text-align:center"| <ref name="HGNC20170512">{{cite web | title=Statistics & Downloads for chromosome 14 | website=HUGO Gene Nomenclature Committee | url= |
|style="text-align:center"| <ref name="HGNC20170512">{{cite web | title=Statistics & Downloads for chromosome 14 | website=HUGO Gene Nomenclature Committee | url=https://www.genenames.org/cgi-bin/statistics?c=14 |date=2017-05-12 | access-date=2017-05-19}}</ref> |
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| 2017-05-12 |
| 2017-05-12 |
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|- |
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| [[Ensembl genome database project|Ensembl]] || 820 || 856 || 518 |
| [[Ensembl genome database project|Ensembl]] || 820 || 856 || 518 |
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|style="text-align:center"| <ref name="Ensembl Release 88">{{cite web | title=Chromosome 14: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=14 |date=2017-03-29 | |
|style="text-align:center"| <ref name="Ensembl Release 88">{{cite web | title=Chromosome 14: Chromosome summary - Homo sapiens | website= Ensembl Release 88 | url=http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=14 |date=2017-03-29 | access-date=2017-05-19}}</ref> |
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| 2017-03-29 |
| 2017-03-29 |
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|- |
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| [[UniProt]] || 720 || — || — |
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|style="text-align:center"| <ref name="UniProt">{{cite web | title=Human chromosome 14: entries, gene names and cross-references to MIM | website= UniProt | url=https://www.uniprot.org/docs/humchr14.txt |date=2018-02-28 | access-date=2018-03-16}}</ref> |
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| 2018-02-28 |
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| [[National Center for Biotechnology Information|NCBI]] || 621 || 690 || 598 |
| [[National Center for Biotechnology Information|NCBI]] || 621 || 690 || 598 |
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|style="text-align:center"| <ref name="NCBI coding">{{cite web | title=Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) |
|style="text-align:center"| <ref name="NCBI coding">{{cite web | title=Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=14%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | access-date=2017-05-20}}</ref><ref name="NCBI noncoding">{{cite web | title=Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=14%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%28%22genetype%20miscrna%22%5BProperties%5D%20OR%20%22genetype%20ncrna%22%5BProperties%5D%20OR%20%22genetype%20rrna%22%5BProperties%5D%20OR%20%22genetype%20trna%22%5BProperties%5D%20OR%20%22genetype%20scrna%22%5BProperties%5D%20OR%20%22genetype%20snrna%22%5BProperties%5D%20OR%20%22genetype%20snorna%22%5BProperties%5D%29%20NOT%20%22genetype%20protein%20coding%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | access-date=2017-05-20}}</ref><ref name="NCBI pseudo">{{cite web | title=Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene | website=NCBI | date=2017-05-19 | url=https://www.ncbi.nlm.nih.gov/gene?term=14%5BCHR%5D%20AND%20%22Homo%20sapiens%22%5BOrganism%5D%20AND%20%28%22genetype%20pseudo%22%5BProperties%5D%20AND%20alive%5Bprop%5D%29&cmd=DetailsSearch | access-date=2017-05-20}}</ref> |
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| 2017-05-19 |
| 2017-05-19 |
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|} |
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=== Gene list === |
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The following are some of the genes located on chromosome 14: |
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The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the right. |
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{{columns-list| |
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* [[ACIN1]]: encoding [[protein]] Apoptotic chromatin condensation inducer in the nucleus |
* [[ACIN1]]: encoding [[protein]] Apoptotic chromatin condensation inducer in the nucleus |
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* [[AHNAK2]]: encoding protein Ahnak nucleoprotein 2 |
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* [[ATXN3]]: Ataxin-3 (Machado-Joseph disease) |
* [[ATXN3]]: Ataxin-3 (Machado-Joseph disease) |
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* [[ |
* [[BCL2L2]]: encoding the anti-[[apoptosis|apoptotic]] [[protein]] Bcl-w of the [[Bcl-2 family]] |
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* [[ |
* [[C14orf80]]: encoding protein C14orf80 |
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* C14orf93: encoding [[protein]] |
* [[C14orf93]]: encoding [[protein]] C14orf93 |
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* [[ |
* [[CCDC176]]: encoding protein Basal body-orientation factor 1 |
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* [[ |
* [[CCDC88C (gene)|CCDC88C]]: encoding protein Coiled-coil domain containing 88C |
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* [[ |
* [[Cdc42 binding protein kinase beta|CDC42BPB]]: encoding [[protein]] CDC42 binding protein kinase beta |
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* [[ |
* [[Cyclin dependent kinase like 1|CDKL1]]: encoding protein Cyclin dependent kinase like 1 |
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* [[CHMP4A]]: Charged multivesicular body protein 4a |
* [[CHMP4A]]: Charged multivesicular body protein 4a |
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* [[CIDEB]]: Cell death-inducing DFFA-like effector b |
* [[CIDEB]]: Cell death-inducing DFFA-like effector b |
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* [[CLBA1]]: encoding [[protein]] CLBA1 |
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* [[CMA1]]: encoding [[enzyme]] Chymase |
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* [[CNIH]]: encoding [[protein]] Protein cornichon homolog |
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* [[CRIP2]]: Cysteine-rich protein 2 |
* [[CRIP2]]: Cysteine-rich protein 2 |
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* [[DDX24]]: encoding [[enzyme]] ATP-dependent RNA helicase DDX24 |
* [[DDX24]]: encoding [[enzyme]] ATP-dependent RNA helicase DDX24 |
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* [[DEGS2]]: encoding [[protein]] Delta(4)-desaturase, sphingolipid 2 |
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* [[DLGAP5]]: Disks large-associated protein 5 |
* [[DLGAP5]]: Disks large-associated protein 5 |
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* [[DGLUCY]]: encoding [[protein]] DGLUCY, mitochondrial |
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* [[EAPP]]: E2F-associated phosphoprotein |
* [[EAPP]]: E2F-associated phosphoprotein |
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* [[EGLN3]]: Egl nine homolog 3 |
* [[EGLN3]]: Egl nine homolog 3 |
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* [[ENTPD5]]: Ectonucleoside triphosphate diphosphohydrolase 5 |
* [[ENTPD5]]: Ectonucleoside triphosphate diphosphohydrolase 5 |
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* [[ERG28]]: encoding [[protein]] Probable ergosterol biosynthetic protein 28 |
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* [[Fam158a]]: encoding [[protein]] UPF0172 protein FAM158A |
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* [[FAM181A]]: encoding [[protein]] Family with sequence similarity 181, member A |
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* [[FCF1]]: rRNA-processing protein FCF1 homolog |
* [[FCF1]]: rRNA-processing protein FCF1 homolog |
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* [[FSCB]]: encoding protein Fibrous sheath CABYR binding protein |
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* [[GALC]]: galactosylceramidase (Krabbe disease) |
* [[GALC]]: galactosylceramidase (Krabbe disease) |
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* [[GARNL1]]: GTPase-activating Rap/Ran-GAP domain-like 1 |
* [[GARNL1]]: GTPase-activating Rap/Ran-GAP domain-like 1 |
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* [[GCH1]]: [[GTP cyclohydrolase 1]] (dopa-responsive dystonia) |
* [[GCH1]]: [[GTP cyclohydrolase 1]] ([[Dopamine-responsive dystonia|dopa-responsive dystonia]]) |
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* [[GPHB5]]: Glycoprotein hormone beta-5 |
* [[GPHB5]]: Glycoprotein hormone beta-5 |
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* [[Gsk3b interacting protein|GSKIP]] encoding [[protein]] GSK3B interacting protein |
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* [[HHIPL1]]: encoding [[protein]] HHIP-like protein 1 |
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* [[IFI27]]: encoding [[protein]] Interferon alpha-inducible protein 27 |
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* [[IFT43]]: [[intraflagellar transport]] 43 |
* [[IFT43]]: [[intraflagellar transport]] 43 |
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⚫ | * [[MYH7]]: [[myosin]] heavy chain beta (MHC-β) isoform<ref>{{cite journal |vauthors=Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN |title=Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=108 |issue=25 |pages=10196–201 |date=June 2011 |pmid=21633012 |pmc=3121857 |doi=10.1073/pnas.1107413108 | |
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* [[IRF2BPL]]: encoding [[protein]] Interferon regulatory factor 2 binding protein like |
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* [[ITPK1]]: encoding [[enzyme]] Inositol-tetrakisphosphate 1-kinase |
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* [[JKAMP]]: encoding [[protein]] JNK1-associated membrane protein |
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* [[JPH4]]: encoding [[protein]] Junctophilin 4 |
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* [[LINC00520]]: a [[long non-coding RNA]] |
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* [[Long intergenic non-protein coding RNA 637|LINC00637]]: encoding protein Long intergenic non-protein coding RNA 637 |
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* [[MAPK1IP1L]]: encoding [[protein]] MAPK-interacting and spindle-stabilizing protein-like |
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* [[MIA2]]: encoding [[protein]] Melanoma inhibitory activity protein 2 |
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* [[MIR494]] encoding [[protein]] MicroRNA 494 |
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* [[MicroRNA 495|MIR495]]: encoding protein MicroRNA 495 |
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* [[MIR3173]]: encoding [[protein]] MicroRNA 3173 |
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* [[MIS18BP1]]: encoding [[protein]] MIS18 binding protein 1 |
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* [[MOAP1]]: encoding [[protein]] Modulator of apoptosis 1 |
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⚫ | * [[MYH7]]: [[myosin]] heavy chain beta (MHC-β) isoform<ref>{{cite journal |vauthors=Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN |title=Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6 |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=108 |issue=25 |pages=10196–201 |date=June 2011 |pmid=21633012 |pmc=3121857 |doi=10.1073/pnas.1107413108 |bibcode=2011PNAS..10810196Q |doi-access=free }}</ref> |
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* [[NEMF (gene)]]: encoding protein Nuclear export mediator factor |
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* [[NPC2]]: Niemann-Pick disease, type C2 |
* [[NPC2]]: Niemann-Pick disease, type C2 |
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* [[NUBPL]]: encoding [[protein]] Iron-sulfur protein NUBPL (IND1) |
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* [[OSGEP]]: encoding [[enzyme]] Probable O-sialoglycoprotein endopeptidase |
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* [[PAPOLA]]: encoding [[enzyme]] Poly(A) polymerase alpha |
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* [[PCNX]]: encoding [[protein]] Pecanex-like protein 1 |
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* [[PELI2]]: encoding [[protein]] Protein pellino homolog 2 |
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* [[Pleckstrin homology and rhogef domain containing g3|PLEKHG3]]: encoding protein Pleckstrin homology and rhogef domain containing g3 |
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* [[PSEN1]]: presenilin 1 (Alzheimer disease 3) |
* [[PSEN1]]: presenilin 1 (Alzheimer disease 3) |
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* [[RIOX1]]: encoding [[protein]] RIOX1 |
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* [[RTRAF]]: encoding [[protein]] RTRAF |
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* [[60S ribosomal protein L10-like|RPL10L]]: encoding [[protein]] 60S ribosomal protein L10-like |
* [[60S ribosomal protein L10-like|RPL10L]]: encoding [[protein]] 60S ribosomal protein L10-like |
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* [[SERPINA1]]: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
* [[SERPINA1]]: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 |
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*[[SERPINA3]]: encoding protein [[Alpha 1-antichymotrypsin|alpha-1-antichymotrypsin]] (ACT) |
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* [[SERPIN A12|SERPINA12]]: encoding protein SERPIN A12 |
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* [[SIX6OS1]]: encoding [[protein]] SIX6OS1 |
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* [[SGPP1]]: encoding [[enzyme]] Sphingosine-1-phosphate phosphatase 1 |
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* [[Small nucleolar rna, c/d box 9|SNORD9]]: encoding protein Small nucleolar rna, c/d box 9 |
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* [[Spectrin repeat containing nuclear envelope family member |SYNE3]]: encoding protein Spectrin repeat containing nuclear envelope family member |
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* [[TC2N]]: encoding [[protein]] Tandem C2 domains nuclear protein |
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* [[TCL1B]]: encoding [[protein]] T-cell leukemia/lymphoma protein 1B |
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* [[TIMM9]]: encoding [[enzyme]] Mitochondrial import inner membrane translocase subunit Tim9 |
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* [[TMED10]]: encoding [[protein]] Transmembrane emp24 domain-containing protein 10 |
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* [[TMEM260]]: encoding [[protein]] TMEM260 |
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* [[T cell receptor alpha joining 56|TRAJ56]]: encoding [[protein]] T cell receptor alpha joining 56 |
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* [[TRAV12-2]]: encoding [[protein]] T cell receptor alpha variable 12-2 |
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* [[TSHR]]: thyroid stimulating hormone receptor |
* [[TSHR]]: thyroid stimulating hormone receptor |
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* [[TUNAR]]: a [[long non-coding RNA]] |
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* [[VASH1]]: encoding [[protein]] Vasohibin-1 |
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* [[VIPAS39]]: encoding [[protein]] VIPAS39 |
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* [[WARS (gene)|WARS]]: encoding [[enzyme]] Tryptophanyl-tRNA synthetase, cytoplasmic |
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* [[YLPM1]]: encoding [[protein]] YLP motif-containing protein 1 |
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* [[ZBTB1]]: encoding [[protein]] Zinc finger and BTB domain containing 1 |
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* [[Zinc finger homeobox 2| ZFHX2]]: encoding [[protein]] Zinc finger homeobox 2 |
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* [[Zinc finger protein 839|ZNF839]]: encoding [[protein]] Zinc finger protein 839 |
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}} |
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==Diseases and disorders== |
==Diseases and disorders== |
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The following diseases are some of those related to genes on chromosome 14: |
The following diseases are some of those related to genes on chromosome 14: |
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{{div col |
{{div col|colwidth=22em}} |
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* [[ |
* [[Alpha-1 antitrypsin deficiency]] |
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* [[Alzheimer disease]] |
* [[Alzheimer disease]] |
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* [[Burkitt's lymphoma]] (t8;14) |
* [[Burkitt's lymphoma]] (t8;14) |
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* [[dopamine-responsive dystonia]] |
* [[dopamine-responsive dystonia]] |
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* [[Follicular lymphoma]] (t14;18) |
* [[Follicular lymphoma]] (t14;18) |
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* [[FOXG1 Syndrome]] |
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* [[Hypertrophic cardiomyopathy]] |
* [[Hypertrophic cardiomyopathy]] |
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* [[Krabbe disease]] |
* [[Krabbe disease]] |
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* [[ |
* [[Cranio-lenticulo-sutural dysplasia]] |
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* [[Machado-Joseph disease]] |
* [[Machado-Joseph disease]] |
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* [[Monosomy 14|Mosaic monosomy 14]] |
* [[Monosomy 14|Mosaic monosomy 14]] |
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* [[Tetrahydrobiopterin deficiency]] |
* [[Tetrahydrobiopterin deficiency]] |
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* [[Uniparental disomy]] (UPD) 14 |
* [[Uniparental disomy]] (UPD) 14 |
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* [[Oculopharyngeal muscular dystrophy]] |
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{{div col end}} |
{{div col end}} |
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| width2 = 1003 |
| width2 = 1003 |
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| height2= 2801 |
| height2= 2801 |
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| caption2 = G-banding patterns of human chromosome 14 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [ |
| caption2 = G-banding patterns of human chromosome 14 in three different resolutions (400,<ref name="400bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_400_V1 Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3)]. Last update 2014-03-04. Retrieved 2017-04-26.</ref> 550<ref name="550bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_550_V1 Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3)]. Last update 2015-08-11. Retrieved 2017-04-26.</ref> and 850<ref name="850bphs">Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref>). Band length in this diagram is based on the ideograms from ISCN (2013).<ref name="Nomenclature2013">{{cite book|author=International Standing Committee on Human Cytogenetic Nomenclature|title=ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013)|url=https://books.google.com/books?id=lGCLrh0DIwEC|year=2013|publisher=Karger Medical and Scientific Publishers|isbn=978-3-318-02253-7}}</ref> This type of ideogram represents actual relative band length observed under a microscope at the different moments during the [[Mitosis|mitotic process]].<ref name="SethakulvichaiManitpornsut2012">{{cite book|last1=Sethakulvichai|first1=W.|last2=Manitpornsut|first2=S.|last3=Wiboonrat|first3=M.|last4=Lilakiatsakun|first4=W.|last5=Assawamakin|first5=A.|last6=Tongsima|first6=S.|title=2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE) |chapter=Estimation of band level resolutions of human chromosome images |year=2012|pages=276–282|doi=10.1109/JCSSE.2012.6261965|isbn=978-1-4673-1921-8|s2cid=16666470|chapter-url=https://www.researchgate.net/publication/261304470}}</ref> |
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}} |
}} |
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{| class="wikitable" style="text-align:right" |
{| class="wikitable" style="text-align:right" |
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|+ [[G banding|G-band]]s of human chromosome 14 in resolution 850 bphs<ref>Genome Decoration Page, NCBI. [ |
|+ [[G banding|G-band]]s of human chromosome 14 in resolution 850 bphs<ref>Genome Decoration Page, NCBI. [http://ftp.ncbi.nlm.nih.gov/pub/gdp/ideogram_9606_GCF_000001305.14_850_V1 Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3)]. Last update 2014-06-03. Retrieved 2017-04-26.</ref> |
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! Chr. |
! Chr. |
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! Arm<ref>"'''p'''": Short arm; "'''q'''": Long arm.</ref> |
! Arm<ref>"'''p'''": Short arm; "'''q'''": Long arm.</ref> |
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{{refbegin}} |
{{refbegin}} |
||
* {{cite journal | author=Campo E | title=Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma | journal=Hum Pathol | year=2003 | pages=330–5 | volume=34 | issue=4 | pmid=12733111 | doi=10.1053/hupa.2003.97}} |
* {{cite journal | author=Campo E | title=Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma | journal=Hum Pathol | year=2003 | pages=330–5 | volume=34 | issue=4 | pmid=12733111 | doi=10.1053/hupa.2003.97}} |
||
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 14 | journal=Genet Test | year=1999 | pages=379–91 | volume=3 | issue=4 | pmid=10627948}} |
* {{cite journal | author=Gilbert F | title=Disease genes and chromosomes: disease maps of the human genome. Chromosome 14 | journal=Genet Test | year=1999 | pages=379–91 | volume=3 | issue=4 | pmid=10627948| doi=10.1089/gte.1999.3.379 }} |
||
* {{cite journal | vauthors=Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J | author99-link=Jean Weissenbach | title=The DNA sequence and analysis of human chromosome 14 | journal=Nature | year=2003 | pages=601–7 | volume=421 | issue=6923 | pmid=12508121 | doi=10.1038/nature01348}} |
* {{cite journal | vauthors=Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J | author99-link=Jean Weissenbach | title=The DNA sequence and analysis of human chromosome 14 | journal=Nature | year=2003 | pages=601–7 | volume=421 | issue=6923 | pmid=12508121 | doi=10.1038/nature01348| bibcode=2003Natur.421..601H | doi-access=free }} |
||
* {{cite journal | vauthors=Kamnasaran D, Cox DW | title=Current status of human chromosome 14 | journal=J Med Genet | year=2002 | pages=81–90 | volume=39 | issue=2 | pmid=11836355 | doi=10.1136/jmg.39.2.81 | pmc=1735028}} |
* {{cite journal | vauthors=Kamnasaran D, Cox DW | title=Current status of human chromosome 14 | journal=J Med Genet | year=2002 | pages=81–90 | volume=39 | issue=2 | pmid=11836355 | doi=10.1136/jmg.39.2.81 | pmc=1735028}} |
||
* {{cite journal | vauthors=Lemire EG, Cardwell S | title=Unusual phenotype in partial trisomy 14 | journal=Am J Med Genet | year=1999 | pages=294–6 | volume=87 | issue=4 | pmid=10588832 | doi=10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S}} |
* {{cite journal | vauthors=Lemire EG, Cardwell S | title=Unusual phenotype in partial trisomy 14 | journal=Am J Med Genet | year=1999 | pages=294–6 | volume=87 | issue=4 | pmid=10588832 | doi=10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S| doi-access=free }} |
||
* {{cite journal | vauthors=van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC | title=Further delineation of the chromosome 14q terminal deletion syndrome | journal=Am J Med Genet | year=2002 | pages=65–72 | volume=110 | issue=1 | pmid=12116274 | doi=10.1002/ajmg.10207}} |
* {{cite journal | vauthors=van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC | title=Further delineation of the chromosome 14q terminal deletion syndrome | journal=Am J Med Genet | year=2002 | pages=65–72 | volume=110 | issue=1 | pmid=12116274 | doi=10.1002/ajmg.10207}} |
||
{{refend}} |
{{refend}} |
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==External links== |
==External links== |
||
{{Commons category|Human chromosome 14}} |
{{Commons category|Human chromosome 14}} |
||
* {{cite web | author= National Institutes of Health |
* {{cite web | author= National Institutes of Health | title= Chromosome 14 | work= Genetics Home Reference | url= http://ghr.nlm.nih.gov/chromosome=14 | access-date= 2017-05-06 | archive-date= 2012-02-04 | archive-url= https://web.archive.org/web/20120204040146/http://ghr.nlm.nih.gov/chromosome=14 | url-status= dead }} |
||
* {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo14.shtml|title=Chromosome 14|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}} |
* {{Cite web|url=http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo14.shtml|title=Chromosome 14|website=Human Genome Project Information Archive 1990–2003|access-date=2017-05-06}} |
||
Latest revision as of 20:49, 24 August 2024
Chromosome 14 | |
---|---|
Features | |
Length (bp) | 101,161,492 bp (CHM13) |
No. of genes | 583 (CCDS)[1] |
Type | Autosome |
Centromere position | Acrocentric[2] (17.2 Mbp[3]) |
Complete gene lists | |
CCDS | Gene list |
HGNC | Gene list |
UniProt | Gene list |
NCBI | Gene list |
External map viewers | |
Ensembl | Chromosome 14 |
Entrez | Chromosome 14 |
NCBI | Chromosome 14 |
UCSC | Chromosome 14 |
Full DNA sequences | |
RefSeq | NC_000014 (FASTA) |
GenBank | CM000676 (FASTA) |
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 107 million base pairs (the building material of DNA) and represents between 3 and 3.5% of the total DNA in cells.
The centromere of chromosome 14 is positioned approximately at position 17.2 Mbp.
Genes
[edit]Number of genes
[edit]The following are some of the gene count estimates of human chromosome 14. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[4]
Estimated by | Protein-coding genes | Non-coding RNA genes | Pseudogenes | Source | Release date |
---|---|---|---|---|---|
CCDS | 583 | — | — | [1] | 2016-09-08 |
HGNC | 593 | 324 | 513 | [5] | 2017-05-12 |
Ensembl | 820 | 856 | 518 | [6] | 2017-03-29 |
UniProt | 720 | — | — | [7] | 2018-02-28 |
NCBI | 621 | 690 | 598 | [8][9][10] | 2017-05-19 |
Gene list
[edit]The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the right.
- ACIN1: encoding protein Apoptotic chromatin condensation inducer in the nucleus
- AHNAK2: encoding protein Ahnak nucleoprotein 2
- ATXN3: Ataxin-3 (Machado-Joseph disease)
- BCL2L2: encoding the anti-apoptotic protein Bcl-w of the Bcl-2 family
- C14orf80: encoding protein C14orf80
- C14orf93: encoding protein C14orf93
- CCDC176: encoding protein Basal body-orientation factor 1
- CCDC88C: encoding protein Coiled-coil domain containing 88C
- CDC42BPB: encoding protein CDC42 binding protein kinase beta
- CDKL1: encoding protein Cyclin dependent kinase like 1
- CHMP4A: Charged multivesicular body protein 4a
- CIDEB: Cell death-inducing DFFA-like effector b
- CLBA1: encoding protein CLBA1
- CMA1: encoding enzyme Chymase
- CNIH: encoding protein Protein cornichon homolog
- COCH: coagulation factor C homolog, cochlin (Limulus polyphemus)
- CRIP2: Cysteine-rich protein 2
- DDX24: encoding enzyme ATP-dependent RNA helicase DDX24
- DEGS2: encoding protein Delta(4)-desaturase, sphingolipid 2
- DLGAP5: Disks large-associated protein 5
- DGLUCY: encoding protein DGLUCY, mitochondrial
- EAPP: E2F-associated phosphoprotein
- EGLN3: Egl nine homolog 3
- ENTPD5: Ectonucleoside triphosphate diphosphohydrolase 5
- ERG28: encoding protein Probable ergosterol biosynthetic protein 28
- Fam158a: encoding protein UPF0172 protein FAM158A
- FAM181A: encoding protein Family with sequence similarity 181, member A
- FAM71D: Family With Sequence Similarity 71, Member D
- FCF1: rRNA-processing protein FCF1 homolog
- FSCB: encoding protein Fibrous sheath CABYR binding protein
- GALC: galactosylceramidase (Krabbe disease)
- GARNL1: GTPase-activating Rap/Ran-GAP domain-like 1
- GCH1: GTP cyclohydrolase 1 (dopa-responsive dystonia)
- GPHB5: Glycoprotein hormone beta-5
- GSKIP encoding protein GSK3B interacting protein
- HHIPL1: encoding protein HHIP-like protein 1
- IFI27: encoding protein Interferon alpha-inducible protein 27
- IFT43: intraflagellar transport 43
- IGH@: immunoglobulin heavy chain locus
- IRF2BPL: encoding protein Interferon regulatory factor 2 binding protein like
- ITPK1: encoding enzyme Inositol-tetrakisphosphate 1-kinase
- JKAMP: encoding protein JNK1-associated membrane protein
- JPH4: encoding protein Junctophilin 4
- LINC00520: a long non-coding RNA
- LINC00637: encoding protein Long intergenic non-protein coding RNA 637
- MAPK1IP1L: encoding protein MAPK-interacting and spindle-stabilizing protein-like
- MIA2: encoding protein Melanoma inhibitory activity protein 2
- MIR494 encoding protein MicroRNA 494
- MIR495: encoding protein MicroRNA 495
- MIR3173: encoding protein MicroRNA 3173
- MIS18BP1: encoding protein MIS18 binding protein 1
- MOAP1: encoding protein Modulator of apoptosis 1
- MYH7: myosin heavy chain beta (MHC-β) isoform[11]
- NEMF (gene): encoding protein Nuclear export mediator factor
- NPC2: Niemann-Pick disease, type C2
- NUBPL: encoding protein Iron-sulfur protein NUBPL (IND1)
- OSGEP: encoding enzyme Probable O-sialoglycoprotein endopeptidase
- PAPOLA: encoding enzyme Poly(A) polymerase alpha
- PCNX: encoding protein Pecanex-like protein 1
- PELI2: encoding protein Protein pellino homolog 2
- PLEKHG3: encoding protein Pleckstrin homology and rhogef domain containing g3
- PSEN1: presenilin 1 (Alzheimer disease 3)
- RIOX1: encoding protein RIOX1
- RTRAF: encoding protein RTRAF
- RPL10L: encoding protein 60S ribosomal protein L10-like
- SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- SERPINA3: encoding protein alpha-1-antichymotrypsin (ACT)
- SERPINA12: encoding protein SERPIN A12
- SIX6OS1: encoding protein SIX6OS1
- SGPP1: encoding enzyme Sphingosine-1-phosphate phosphatase 1
- SNORD9: encoding protein Small nucleolar rna, c/d box 9
- SYNE3: encoding protein Spectrin repeat containing nuclear envelope family member
- TC2N: encoding protein Tandem C2 domains nuclear protein
- TCL1B: encoding protein T-cell leukemia/lymphoma protein 1B
- TIMM9: encoding enzyme Mitochondrial import inner membrane translocase subunit Tim9
- TMED10: encoding protein Transmembrane emp24 domain-containing protein 10
- TMEM260: encoding protein TMEM260
- TRAJ56: encoding protein T cell receptor alpha joining 56
- TRAV12-2: encoding protein T cell receptor alpha variable 12-2
- TSHR: thyroid stimulating hormone receptor
- TUNAR: a long non-coding RNA
- VASH1: encoding protein Vasohibin-1
- VIPAS39: encoding protein VIPAS39
- WARS: encoding enzyme Tryptophanyl-tRNA synthetase, cytoplasmic
- YLPM1: encoding protein YLP motif-containing protein 1
- ZBTB1: encoding protein Zinc finger and BTB domain containing 1
- ZFHX2: encoding protein Zinc finger homeobox 2
- ZNF839: encoding protein Zinc finger protein 839
Diseases and disorders
[edit]The following diseases are some of those related to genes on chromosome 14:
- Alpha-1 antitrypsin deficiency
- Alzheimer disease
- Burkitt's lymphoma (t8;14)
- congenital hypothyroidism
- dopamine-responsive dystonia
- Follicular lymphoma (t14;18)
- FOXG1 Syndrome
- Hypertrophic cardiomyopathy
- Krabbe disease
- Cranio-lenticulo-sutural dysplasia
- Machado-Joseph disease
- Mosaic monosomy 14
- Multiple myeloma
- Niemann-Pick disease
- Nonsyndromic deafness
- Sensenbrenner syndrome
- Tetrahydrobiopterin deficiency
- Uniparental disomy (UPD) 14
- Oculopharyngeal muscular dystrophy
Cytogenetic band
[edit]Chr. | Arm[17] | Band[18] | ISCN start[19] |
ISCN stop[19] |
Basepair start |
Basepair stop |
Stain[20] | Density |
---|---|---|---|---|---|---|---|---|
14 | p | 13 | 0 | 284 | 1 | 3,600,000 | gvar | |
14 | p | 12 | 284 | 624 | 3,600,001 | 8,000,000 | stalk | |
14 | p | 11.2 | 624 | 1249 | 8,000,001 | 16,100,000 | gvar | |
14 | p | 11.1 | 1249 | 1433 | 16,100,001 | 17,200,000 | acen | |
14 | q | 11.1 | 1433 | 1660 | 17,200,001 | 18,200,000 | acen | |
14 | q | 11.2 | 1660 | 2043 | 18,200,001 | 24,100,000 | gneg | |
14 | q | 12 | 2043 | 2313 | 24,100,001 | 32,900,000 | gpos | 100 |
14 | q | 13.1 | 2313 | 2469 | 32,900,001 | 34,800,000 | gneg | |
14 | q | 13.2 | 2469 | 2582 | 34,800,001 | 36,100,000 | gpos | 50 |
14 | q | 13.3 | 2582 | 2724 | 36,100,001 | 37,400,000 | gneg | |
14 | q | 21.1 | 2724 | 2923 | 37,400,001 | 43,000,000 | gpos | 100 |
14 | q | 21.2 | 2923 | 3008 | 43,000,001 | 46,700,000 | gneg | |
14 | q | 21.3 | 3008 | 3264 | 46,700,001 | 50,400,000 | gpos | 100 |
14 | q | 22.1 | 3264 | 3491 | 50,400,001 | 53,600,000 | gneg | |
14 | q | 22.2 | 3491 | 3604 | 53,600,001 | 55,000,000 | gpos | 25 |
14 | q | 22.3 | 3604 | 3718 | 55,000,001 | 57,600,000 | gneg | |
14 | q | 23.1 | 3718 | 3916 | 57,600,001 | 61,600,000 | gpos | 75 |
14 | q | 23.2 | 3916 | 4044 | 61,600,001 | 64,300,000 | gneg | |
14 | q | 23.3 | 4044 | 4186 | 64,300,001 | 67,400,000 | gpos | 50 |
14 | q | 24.1 | 4186 | 4484 | 67,400,001 | 69,800,000 | gneg | |
14 | q | 24.2 | 4484 | 4626 | 69,800,001 | 73,300,000 | gpos | 50 |
14 | q | 24.3 | 4626 | 4839 | 73,300,001 | 78,800,000 | gneg | |
14 | q | 31.1 | 4839 | 5051 | 78,800,001 | 83,100,000 | gpos | 100 |
14 | q | 31.2 | 5051 | 5094 | 83,100,001 | 84,400,000 | gneg | |
14 | q | 31.3 | 5094 | 5349 | 84,400,001 | 89,300,000 | gpos | 100 |
14 | q | 32.11 | 5349 | 5406 | 89,300,001 | 91,400,000 | gneg | |
14 | q | 32.12 | 5406 | 5505 | 91,400,001 | 94,200,000 | gpos | 25 |
14 | q | 32.13 | 5505 | 5619 | 94,200,001 | 95,800,000 | gneg | |
14 | q | 32.2 | 5619 | 5732 | 95,800,001 | 100,900,000 | gpos | 50 |
14 | q | 32.31 | 5732 | 5903 | 100,900,001 | 102,700,000 | gneg | |
14 | q | 32.32 | 5903 | 6016 | 102,700,001 | 103,500,000 | gpos | 50 |
14 | q | 32.33 | 6016 | 6300 | 103,500,001 | 107,043,718 | gneg |
References
[edit]- ^ a b "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Retrieved 2017-05-28.
- ^ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2.
- ^ a b Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ Pertea M, Salzberg SL (2010). "Between a chicken and a grape: estimating the number of human genes". Genome Biol. 11 (5): 206. doi:10.1186/gb-2010-11-5-206. PMC 2898077. PMID 20441615.
- ^ "Statistics & Downloads for chromosome 14". HUGO Gene Nomenclature Committee. 2017-05-12. Retrieved 2017-05-19.
- ^ "Chromosome 14: Chromosome summary - Homo sapiens". Ensembl Release 88. 2017-03-29. Retrieved 2017-05-19.
- ^ "Human chromosome 14: entries, gene names and cross-references to MIM". UniProt. 2018-02-28. Retrieved 2018-03-16.
- ^ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
- ^ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ( ("genetype miscrna"[Properties] OR "genetype ncrna"[Properties] OR "genetype rrna"[Properties] OR "genetype trna"[Properties] OR "genetype scrna"[Properties] OR "genetype snrna"[Properties] OR "genetype snorna"[Properties]) NOT "genetype protein coding"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
- ^ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". NCBI. 2017-05-19. Retrieved 2017-05-20.
- ^ Quiat D, Voelker KA, Pei J, Grishin NV, Grange RW, Bassel-Duby R, Olson EN (June 2011). "Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6". Proc. Natl. Acad. Sci. U.S.A. 108 (25): 10196–201. Bibcode:2011PNAS..10810196Q. doi:10.1073/pnas.1107413108. PMC 3121857. PMID 21633012.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (400 bphs, Assembly GRCh38.p3). Last update 2014-03-04. Retrieved 2017-04-26.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (550 bphs, Assembly GRCh38.p3). Last update 2015-08-11. Retrieved 2017-04-26.
- ^ International Standing Committee on Human Cytogenetic Nomenclature (2013). ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Karger Medical and Scientific Publishers. ISBN 978-3-318-02253-7.
- ^ Sethakulvichai, W.; Manitpornsut, S.; Wiboonrat, M.; Lilakiatsakun, W.; Assawamakin, A.; Tongsima, S. (2012). "Estimation of band level resolutions of human chromosome images". 2012 Ninth International Conference on Computer Science and Software Engineering (JCSSE). pp. 276–282. doi:10.1109/JCSSE.2012.6261965. ISBN 978-1-4673-1921-8. S2CID 16666470.
- ^ Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
- ^ "p": Short arm; "q": Long arm.
- ^ For cytogenetic banding nomenclature, see article locus.
- ^ a b These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
- ^ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
- Campo E (2003). "Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma". Hum Pathol. 34 (4): 330–5. doi:10.1053/hupa.2003.97. PMID 12733111.
- Gilbert F (1999). "Disease genes and chromosomes: disease maps of the human genome. Chromosome 14". Genet Test. 3 (4): 379–91. doi:10.1089/gte.1999.3.379. PMID 10627948.
- Heilig R, Eckenberg R, Petit JL, Fonknechten N, Da Silva C, Cattolico L, Levy M, Barbe V, de Berardinis V, Ureta-Vidal A, Pelletier E, Vico V, Anthouard V, Rowen L, Madan A, Qin S, Sun H, Du H, Pepin K, Artiguenave F, Robert C, Cruaud C, Bruls T, Jaillon O, Friedlander L, Samson G, Brottier P, Cure S, Segurens B, Aniere F, Samain S, Crespeau H, Abbasi N, Aiach N, Boscus D, Dickhoff R, Dors M, Dubois I, Friedman C, Gouyvenoux M, James R, Madan A, Mairey-Estrada B, Mangenot S, Martins N, Menard M, Oztas S, Ratcliffe A, Shaffer T, Trask B, Vacherie B, Bellemere C, Belser C, Besnard-Gonnet M, Bartol-Mavel D, Boutard M, Briez-Silla S, Combette S, Dufosse-Laurent V, Ferron C, Lechaplais C, Louesse C, Muselet D, Magdelenat G, Pateau E, Petit E, Sirvain-Trukniewicz P, Trybou A, Vega-Czarny N, Bataille E, Bluet E, Bordelais I, Dubois M, Dumont C, Guerin T, Haffray S, Hammadi R, Muanga J, Pellouin V, Robert D, Wunderle E, Gauguet G, Roy A, Sainte-Marthe L, Verdier J, Verdier-Discala C, Hillier L, Fulton L, McPherson J, Matsuda F, Wilson R, Scarpelli C, Gyapay G, Wincker P, Saurin W, Quetier F, Waterston R, Hood L, Weissenbach J (2003). "The DNA sequence and analysis of human chromosome 14". Nature. 421 (6923): 601–7. Bibcode:2003Natur.421..601H. doi:10.1038/nature01348. PMID 12508121.
- Kamnasaran D, Cox DW (2002). "Current status of human chromosome 14". J Med Genet. 39 (2): 81–90. doi:10.1136/jmg.39.2.81. PMC 1735028. PMID 11836355.
- Lemire EG, Cardwell S (1999). "Unusual phenotype in partial trisomy 14". Am J Med Genet. 87 (4): 294–6. doi:10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. PMID 10588832.
- van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC (2002). "Further delineation of the chromosome 14q terminal deletion syndrome". Am J Med Genet. 110 (1): 65–72. doi:10.1002/ajmg.10207. PMID 12116274.
External links
[edit]- National Institutes of Health. "Chromosome 14". Genetics Home Reference. Archived from the original on 2012-02-04. Retrieved 2017-05-06.
- "Chromosome 14". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.