Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 159 million base pairs and represents between 5 and 5.5 percent of the total DNA in cells.
Genes
Number of genes
The following are some of the gene count estimates of human chromosome 7. 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
862
—
—
2016-09-08
HGNC
870
245
703
2017-05-12
Ensembl
984
973
889
2017-03-29
UniProt
944
—
—
2018-02-28
NCBI
948
905
933
2017-05-19
Gene list
The following is a partial list of genes on human chromosome 7. 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 7:
The following conditions are caused by changes in the structure or number of copies of chromosome 7:
Williams syndrome is caused by the deletion of genetic material from a portion of the long arm of chromosome 7. The deleted region, which is located at position 11.23, is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.
While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.
Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell or a missing segment of the chromosome in each cell. In some cases, several DNA building blocks are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.
In the novelPerformance Anomalies, researchers at Stanford University identify mutations in the long arm of chromosome 7 as underlying the accelerated nervous system of the spy protagonist Cono, who receives the moniker Cono
