Chromosome 14 Explained

Length Bp:	101,161,492 bp (CHM13)
Genes:	583 (CCDS)
Type:	Autosome
Centromere Position:	Acrocentric^[1] (17.2 Mbp^[2])
Chr:	14
Ensembl Id:	14
Entrez Id:	14
Ncbi Id:	14
Ucsc Id:	14
Refseq Id:	NC_000014
Genbank Id:	CM000676

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.^[3]

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
	583	—	—	^[4]	2016-09-08
HGNC	593	324	513	^[5]	2017-05-12
	820	856	518	^[6]	2017-03-29
	720	—	—	^[7]	2018-02-28
	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

G-bands of human chromosome 14 in resolution 850 bphs^[11] ! Chr. ! Arm^[12] ! Band^[13] ! ISCN
start^[14] ! ISCN
stop! Basepair
start ! Basepair
stop ! Stain^[15] ! Density

14	p	13	0	284			gvar
14	p	12	284	624			stalk
14	p	11.2	624	1249			gvar
14	p	11.1	1249	1433			acen
14	q	11.1	1433	1660			acen
14	q	11.2	1660	2043			gneg
14	q	12	2043	2313			gpos	100
14	q	13.1	2313	2469			gneg
14	q	13.2	2469	2582			gpos	50
14	q	13.3	2582	2724			gneg
14	q	21.1	2724	2923			gpos	100
14	q	21.2	2923	3008			gneg
14	q	21.3	3008	3264			gpos	100
14	q	22.1	3264	3491			gneg
14	q	22.2	3491	3604			gpos	25
14	q	22.3	3604	3718			gneg
14	q	23.1	3718	3916			gpos	75
14	q	23.2	3916	4044			gneg
14	q	23.3	4044	4186			gpos	50
14	q	24.1	4186	4484			gneg
14	q	24.2	4484	4626			gpos	50
14	q	24.3	4626	4839			gneg
14	q	31.1	4839	5051			gpos	100
14	q	31.2	5051	5094			gneg
14	q	31.3	5094	5349			gpos	100
14	q	32.11	5349	5406			gneg
14	q	32.12	5406	5505			gpos	25
14	q	32.13	5505	5619			gneg
14	q	32.2	5619	5732			gpos	50
14	q	32.31	5732	5903			gneg
14	q	32.32	5903	6016			gpos	50
14	q	32.33	6016	6300			gneg

References

• Campo E . Genetic and molecular genetic studies in the diagnosis of B-cell lymphomas I: mantle cell lymphoma, follicular lymphoma, and Burkitt's lymphoma . Hum Pathol . 2003 . 330–5 . 34 . 4 . 12733111 . 10.1053/hupa.2003.97.
• Gilbert F . Disease genes and chromosomes: disease maps of the human genome. Chromosome 14 . Genet Test . 1999 . 379–91 . 3 . 4 . 10627948. 10.1089/gte.1999.3.379 .
• 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 . Jean Weissenbach . The DNA sequence and analysis of human chromosome 14 . Nature . 2003 . 601–7 . 421 . 6923 . 12508121 . 10.1038/nature01348. 2003Natur.421..601H . free .
• Kamnasaran D, Cox DW . Current status of human chromosome 14 . J Med Genet . 2002 . 81–90 . 39 . 2 . 11836355 . 10.1136/jmg.39.2.81 . 1735028.
• Lemire EG, Cardwell S . Unusual phenotype in partial trisomy 14 . Am J Med Genet . 1999 . 294–6 . 87 . 4 . 10588832 . 10.1002/(SICI)1096-8628(19991203)87:4<294::AID-AJMG2>3.0.CO;2-S. free .
• van Karnebeek CD, Quik S, Sluijter S, Hulsbeek MM, Hoovers JM, Hennekam RC . Further delineation of the chromosome 14q terminal deletion syndrome . Am J Med Genet . 2002 . 65–72 . 110 . 1 . 12116274 . 10.1002/ajmg.10207.

External links

• Web site: National Institutes of Health . Chromosome 14 . Genetics Home Reference . 2017-05-06 . 2012-02-04 . https://web.archive.org/web/20120204040146/http://ghr.nlm.nih.gov/chromosome=14 . dead .
• Web site: Chromosome 14. Human Genome Project Information Archive 1990–2003. 2017-05-06.

Notes and References

1. Book: Tom Strachan. Andrew Read. Human Molecular Genetics. 2 April 2010. Garland Science. 978-1-136-84407-2. 45.
2. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
3. Pertea M, Salzberg SL. Between a chicken and a grape: estimating the number of human genes. . Genome Biol . 2010 . 11 . 5 . 206 . 20441615 . 10.1186/gb-2010-11-5-206 . 2898077 . free .
4. Web site: 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 . 2017-05-28.
5. Web site: Statistics & Downloads for chromosome 14 . HUGO Gene Nomenclature Committee . 2017-05-12 . 2017-05-19.
6. Web site: Chromosome 14: Chromosome summary - Homo sapiens . Ensembl Release 88 . 2017-03-29 . 2017-05-19.
7. Web site: Human chromosome 14: entries, gene names and cross-references to MIM . UniProt . 2018-02-28 . 2018-03-16.
8. Web site: Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype protein coding"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
9. Web site: 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 . 2017-05-20.
10. Web site: Search results - 14[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
11. Genome Decoration Page, NCBI. Ideogram data for Homo sapience (850 bphs, Assembly GRCh38.p3). Last update 2014-06-03. Retrieved 2017-04-26.
12. "p": Short arm; "q": Long arm.
13. For cytogenetic banding nomenclature, see article locus.
14. 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.
15. 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.