CHD7 (chromodomain helicase DNA binding protein 7)

2012-11-01  

Identity

HGNC
CHD7
LOCATION
8q12.2
LOCUSID
55636
ALIAS
CRG,HH5,IS3,KAL5
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55636
MIM: 608892
HGNC: 20626
Ensembl: ENSG00000171316

Variants:

dbSNP: 55636
ClinVar: 55636
TCGA: ENSG00000171316
COSMIC: CHD7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171316ENST00000423902Q9P2D1
ENSG00000171316ENST00000524602Q9P2D1
ENSG00000171316ENST00000525508Q9P2D1
ENSG00000171316ENST00000526846E9PP20
ENSG00000171316ENST00000527825H0YD01
ENSG00000171316ENST00000527900H0YDC1

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
372731252024A novel CHD7 variant in a chinese family with CHARGE syndrome.1
380579912024Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.0
384082342024CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.1
387902722024CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.0
372731252024A novel CHD7 variant in a chinese family with CHARGE syndrome.1
380579912024Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.0
384082342024CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.1
387902722024CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.0
367157252023The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.1
367946412023Expanding the reproductive organ phenotype of CHD7-spectrum disorder.0
367157252023The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.1
367946412023Expanding the reproductive organ phenotype of CHD7-spectrum disorder.0
346636902022HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7.2
354469722022[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].1
357737572022[Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].0

Citation

Dessen P

CHD7 (chromodomain helicase DNA binding protein 7)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52981