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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000171316	ENST00000423902	Q9P2D1
ENSG00000171316	ENST00000524602	Q9P2D1
ENSG00000171316	ENST00000525508	Q9P2D1
ENSG00000171316	ENST00000526846	E9PP20
ENSG00000171316	ENST00000527825	H0YD01
ENSG00000171316	ENST00000527900	H0YDC1

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Expression (GTEx)

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 ID	Year	Title	Citations
34663690	2022	HERVH-derived lncRNAs negatively regulate chromatin targeting and remodeling mediated by CHD7.	2
35446972	2022	[Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].	1
35773757	2022	[Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].	0
36715725	2023	The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.	1
36715725	2023	The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.	1
36794641	2023	Expanding the reproductive organ phenotype of CHD7-spectrum disorder.	0
36794641	2023	Expanding the reproductive organ phenotype of CHD7-spectrum disorder.	0
37273125	2024	A novel CHD7 variant in a chinese family with CHARGE syndrome.	1
37273125	2024	A novel CHD7 variant in a chinese family with CHARGE syndrome.	1
38057991	2024	Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.	0

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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/chd7-(chromodomain-helicase-dna-binding-protein-7)