Chromosome 8

Chromosome 8 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 8 spans about 146 million base pairs and represents between 4.5 and 5.0% of the total DNA in cells.
About 8% of its genes are involved in brain development and function, and about 16% are involved in cancer. A unique feature of 8p is a region of about 15 megabases that appears to have a high mutation rate. This region shows a significant divergence between human and chimpanzee, suggesting that its high mutation rates have contributed to the evolution of the human brain.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 8. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. Among various projects, the collaborative consensus coding sequence project takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.

Estimated by	Protein-coding genes	Non-coding RNA genes	Pseudogenes	Source	Release date
CCDS	646	—	—		2016-09-08
HGNC	656	242	539		2017-05-12
Ensembl	670	1,052	613		2017-03-29
UniProt	703	—	—		2018-02-28
NCBI	719	848	682		2017-05-19

Gene list

The following is a partial list of genes on human chromosome 8. 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 8:

Rearrangements involving the short arm of Chromosome 8 can be highly variable in size and gene content, resulting in a wide range of phenotypes including epilepsy, autism, hypotonia, gastrointestinal dysfunction, and congenital heart defects. Project 8p Foundation, a global nonprofit patient advocacy organization, supports individuals affected by chromosome 8p disorders, through community support and connection, a longitudinal natural history study, biorepository, open-access data platform, and the development of precision medicine tools aimed at improving clinical care and accelerating discovery. There is also a multidisciplinary clinic for 8p rearrangements led by Project 8p available to affected families.

Cytogenetic band

Chr.	Arm	Band	ISCN start	ISCN stop	Basepair start	Basepair stop	Stain	Density
8	p	23.3	0	115			gneg
8	p	23.2	115	331			gpos	75
8	p	23.1	331	690			gneg
8	p	22	690	992			gpos	100
8	p	21.3	992	1179			gneg
8	p	21.2	1179	1380			gpos	50
8	p	21.1	1380	1639			gneg
8	p	12	1639	1897			gpos	75
8	p	11.23	1897	2041			gneg
8	p	11.22	2041	2156			gpos	25
8	p	11.21	2156	2343			gneg
8	p	11.1	2343	2472			acen
8	q	11.1	2472	2645			acen
8	q	11.21	2645	2817			gneg
8	q	11.22	2817	3033			gpos	75
8	q	11.23	3033	3277			gneg
8	q	12.1	3277	3493			gpos	50
8	q	12.2	3493	3622			gneg
8	q	12.3	3622	3809			gpos	50
8	q	13.1	3809	3938			gneg
8	q	13.2	3938	4096			gpos	50
8	q	13.3	4096	4312			gneg
8	q	21.11	4312	4545			gpos	100
8	q	21.12	4545	4628			gneg
8	q	21.13	4628	4858			gpos	75
8	q	21.2	4858	4959			gneg
8	q	21.3	4959	5289			gpos	100
8	q	22.1	5289	5577			gneg
8	q	22.2	5577	5692			gpos	25
8	q	22.3	5692	5922			gneg
8	q	23.1	5922	6152			gpos	75
8	q	23.2	6152	6267			gneg
8	q	23.3	6267	6611			gpos	100
8	q	24.11	6611	6726			gneg
8	q	24.12	6726	6942			gpos	50
8	q	24.13	6942	7244			gneg
8	q	24.21	7244	7431			gpos	50
8	q	24.22	7431	7661			gneg
8	q	24.23	7661	7804			gpos	75
8	q	24.3	7804	8250			gneg