Biology:Chromosome 14
Chromosome 14 | |
---|---|
Human chromosome 14 pair after G-banding. One is from mother, one is from father. | |
Chromosome 14 pair in human male karyogram. | |
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 101 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
Number of genes
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
The following is a partial list of genes on human chromosome 14. For complete list, see the link in the infobox on the right.
Diseases and disorders
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
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
- ↑ 1.0 1.1 "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) - Gene". 2016-09-08. 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.
- ↑ Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2. https://books.google.com/books?id=dSwWBAAAQBAJ&pg=PA45.
- ↑ 3.0 3.1 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. PMID 20441615.
- ↑ "Statistics & Downloads for chromosome 14". 2017-05-12. https://www.genenames.org/cgi-bin/statistics?c=14.
- ↑ "Chromosome 14: Chromosome summary - Homo sapiens". 2017-03-29. http://mar2017.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=14.
- ↑ "Human chromosome 14: entries, gene names and cross-references to MIM". 2018-02-28. https://www.uniprot.org/docs/humchr14.txt.
- ↑ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene". 2017-05-19. 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.
- ↑ "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". 2017-05-19. 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.
- ↑ "Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene". 2017-05-19. 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.
- ↑ "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. June 2011. doi:10.1073/pnas.1107413108. PMID 21633012. Bibcode: 2011PNAS..10810196Q.
- ↑ 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. https://books.google.com/books?id=lGCLrh0DIwEC.
- ↑ 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. https://www.researchgate.net/publication/261304470.
- ↑ 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.
- ↑ 19.0 19.1 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.
- "The DNA sequence and analysis of human chromosome 14". Nature 421 (6923): 601–7. 2003. doi:10.1038/nature01348. PMID 12508121. Bibcode: 2003Natur.421..601H.
- "Current status of human chromosome 14". J Med Genet 39 (2): 81–90. 2002. doi:10.1136/jmg.39.2.81. PMID 11836355.
- "Unusual phenotype in partial trisomy 14". Am J Med Genet 87 (4): 294–6. 1999. doi:10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. PMID 10588832.
- "Further delineation of the chromosome 14q terminal deletion syndrome". Am J Med Genet 110 (1): 65–72. 2002. doi:10.1002/ajmg.10207. PMID 12116274.
External links
- National Institutes of Health. "Chromosome 14". Genetics Home Reference. http://ghr.nlm.nih.gov/chromosome=14.
- "Chromosome 14". http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromo14.shtml.
Original source: https://en.wikipedia.org/wiki/Chromosome 14.
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