Chromosome 13 Explained

Length Bp:	113,566,686 bp (CHM13)
Genes:	308 (CCDS)
Type:	Autosome
Centromere Position:	Acrocentric^[1] (17.7 Mbp^[2])
Chr:	13
Ensembl Id:	13
Entrez Id:	13
Ncbi Id:	13
Ucsc Id:	13
Refseq Id:	NC_000013
Genbank Id:	CM000675

Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 13. 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
	308	—	—	^[4]	2016-09-08
HGNC	309	323	469	^[5]	2017-05-12
	324	586	373	^[6]	2017-03-29
	329	—	—	^[7]	2018-02-28
	343	622	481	^[8] ^[9] ^[10]	2017-05-19

Gene list

The following is a partial list of genes on human chromosome 13. For complete list, see the link in the infobox on the right.

Diseases and disorders

The following diseases and disorders are some of those related to genes on chromosome 13:

• 13q deletion syndrome
• Bipolar disorder
• Bladder cancer
• Breast cancer
• Heterochromia
• Hirschsprung's disease
• Maturity onset diabetes of the young type 4
• Nonsyndromic deafness
• Propionic acidemia
• Retinoblastoma
• Schizophrenia
• Waardenburg syndrome
• Wilson's disease
• Patau syndrome
• Chronic Lymphocytic Leukemia (Acquired defect)
• Young–Madders syndrome

Chromosomal conditions

The following conditions are caused by changes in the structure or number of copies of chromosome 13:

• Retinoblastoma: A small percentage of retinoblastoma cases are caused by deletions in the region of chromosome 13 (13q14) containing the RB1 gene.^[11] Children with these chromosomal deletions may also have intellectual disability, slow growth, and characteristic facial features (such as prominent eyebrows, a broad nasal bridge, a short nose, and ear abnormalities). Researchers have not determined which other genes are located in the deleted region, but a loss of several genes is likely responsible for these developmental problems.
• Trisomy 13: Trisomy 13 occurs when each cell in the body has three copies of chromosome 13 instead of the usual two copies. Trisomy 13 can also result from an extra copy of chromosome 13 in only some of the body's cells (mosaic trisomy 13). In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. These cases are called translocation trisomy 13. Extra material from chromosome 13 disrupts the course of normal development, causing the characteristic signs and symptoms of trisomy 13. Researchers are not yet certain how this extra genetic material leads to the features of the disorder, which include severely abnormal cerebral functions, a small cranium, retardation, non functional eyes and heart defects.
• Other chromosomal conditions: Partial monosomy 13q is a rare chromosomal disorder that results when a piece of the long arm (q) of chromosome 13 is missing (monosomic). Infants born with partial monosomy 13q may exhibit low birth weight, malformations of the head and face (craniofacial region), skeletal abnormalities (especially of the hands and feet), and other physical abnormalities. Intellectual disability is characteristic of this condition. The mortality rate during infancy is high among individuals born with this disorder. Almost all cases of partial monosomy 13q occur randomly for no apparent reason (sporadic).

Cytogenetic band

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

13	p	13	0	282			gvar
13	p	12	282	620			stalk
13	p	11.2	620	1015			gvar
13	p	11.1	1015	1198			acen
13	q	11	1198	1353			acen
13	q	12.11	1353	1536			gneg
13	q	12.12	1536	1635			gpos	25
13	q	12.13	1635	1790			gneg
13	q	12.2	1790	1888			gpos	25
13	q	12.3	1888	2114			gneg
13	q	13.1	2114	2255			gpos	50
13	q	13.2	2255	2367			gneg
13	q	13.3	2367	2649			gpos	75
13	q	14.11	2649	2931			gneg
13	q	14.12	2931	3030			gpos	25
13	q	14.13	3030	3128			gneg
13	q	14.2	3128	3311			gpos	50
13	q	14.3	3311	3537			gneg
13	q	21.1	3537	3762			gpos	100
13	q	21.2	3762	3889			gneg
13	q	21.31	3889	4058			gpos	75
13	q	21.32	4058	4199			gneg
13	q	21.33	4199	4439			gpos	100
13	q	22.1	4439	4565			gneg
13	q	22.2	4565	4678			gpos	50
13	q	22.3	4678	4791			gneg
13	q	31.1	4791	5087			gpos	100
13	q	31.2	5087	5171			gneg
13	q	31.3	5171	5355			gpos	100
13	q	32.1	5355	5510			gneg
13	q	32.2	5510	5636			gpos	25
13	q	32.3	5636	5834			gneg
13	q	33.1	5834	5989			gpos	100
13	q	33.2	5989	6087			gneg
13	q	33.3	6087	6256			gpos	100
13	q	34	6256	6510			gneg

External links

• Web site: National Institutes of Health . Chromosome 13 . Genetics Home Reference . https://web.archive.org/web/20041009235409/http://www.ghr.nlm.nih.gov/chromosome=13 . dead . October 9, 2004 . 2017-05-06 .
• Web site: Chromosome 13. 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 - 13[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 13 . HUGO Gene Nomenclature Committee . 2017-05-12 . 2017-05-19.
6. Web site: Chromosome 13: Chromosome summary - Homo sapiens . Ensembl Release 88 . 2017-03-29 . 2017-05-19.
7. Web site: Human chromosome 13: entries, gene names and cross-references to MIM . UniProt . 2018-02-28 . 2018-03-16.
8. Web site: Search results - 13[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 - 13[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 - 13[CHR] AND "Homo sapiens"[Organism] AND ("genetype pseudo"[Properties] AND alive[prop]) - Gene . NCBI . 2017-05-19 . 2017-05-20.
11. Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, Beare DM, Burford DC, Hunt SE, Griffiths-Jones S, Jones MC, Keenan SJ, Oliver K, Scott CE, Ainscough R, Almeida JP, Ambrose KD, Andrews DT, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Bannerjee R, Barlow KF, Bates K, Beasley H, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burrill W, Carder C, Carter NP, Chapman JC, Clamp ME, Clark SY, Clarke G, Clee CM, Clegg SC, Cobley V, Collins JE, Corby N, Coville GJ, Deloukas P, Dhami P, Dunham I, Dunn M, Earthrowl ME, Ellington AG, Faulkner L, Frankish AG, Frankland J, French L, Garner P, Garnett J, Gilbert JG, Gilson CJ, Ghori J, Grafham DV, Gribble SM, Griffiths C, Hall RE, Hammond S, Harley JL, Hart EA, Heath PD, Howden PJ, Huckle EJ, Hunt PJ, Hunt AR, Johnson C, Johnson D, Kay M, Kimberley AM, King A, Laird GK, Langford CJ, Lawlor S, Leongamornlert DA, Lloyd DM, Lloyd C, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, McLaren SJ, McMurray A, Milne S, Moore MJ, Nickerson T, Palmer SA, Pearce AV, Peck AI, Pelan S, Phillimore B, Porter KM, Rice CM, Searle S, Sehra HK, Shownkeen R, Skuce CD, Smith M, Steward CA, Sycamore N, Tester J, Thomas DW, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Wilming L, Wray PW, Wright MW, Young L, Coulson A, Durbin R, Hubbard T, Sulston JE, Beck S, Bentley DR, Rogers J, Ross MT. 6 . The DNA sequence and analysis of human chromosome 13 . Nature . 428 . 6982 . 522–8 . 2004 . 15057823 . 2665288 . 10.1038/nature02379. 2004Natur.428..522D .
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.