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
153002502004Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.298
201305772010CHD7 cooperates with PBAF to control multipotent neural crest formation.213
188349672008Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.96
161551932006CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.95
164006102006Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.92
201868152010Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.86
201868152010Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.86
162077322005Multiple mutations in mouse Chd7 provide models for CHARGE syndrome.78
161699322006Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.73
224613082012Mutation update on the CHD7 gene involved in CHARGE syndrome.73

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