| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 26038 |
Name | CHD5 |
Synonymous | -;chromodomain helicase DNA binding protein 5;CHD5;chromodomain helicase DNA binding protein 5 |
Definition | ATP-dependent helicase CHD5|CHD-5|chromodomain-helicase-DNA-binding protein 5 |
Position | 1p36.31 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CHD5 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CHD5_E42_UTR_3; chr1; 6162835 |
SUB; UTR_3; T; T/G; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.5109C>T; p.F1703F; |
skin; arm | malignant_melanoma |
c.898G>C; p.D300H; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1999A>G; p.R667G; 1:6126514-6126514 |
breast | carcinoma; ductolobular_carcinoma |
c.133G>A; p.V45M; 1:6150871-6150871 |
breast | carcinoma; ductal_carcinoma |
c.5199C>T; p.Y1733Y; 1:6094472-6094472 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1972A>G; p.R658G; |
liver | carcinoma; hepatocellular_carcinoma |
c.355G>A; p.D119N; 1:6142015-6142015 |
breast | carcinoma; ductal_carcinoma |
c.108C>T; p.F36F; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.3917G>T; p.R1306L; 1:6109380-6109380 |
lung | carcinoma; small_cell_carcinoma |
c.3772G>C; p.D1258H; |
ovary | carcinoma; clear_cell_carcinoma |
c.5622C>T; p.D1874D; |
pancreas | NS |
c.3373C>T; p.H1125Y; 1:6112865-6112865 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3458C>T; p.S1153L; 1:6111646-6111646 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3499A>G; p.M1167V; 1:6111605-6111605 |
ovary | carcinoma; serous_carcinoma |
c.1391_1392insC; p.L465fs*28; |
ovary | carcinoma; serous_carcinoma |
c.3969_3970insAT; p.L1324fs*78; |
ovary | carcinoma; serous_carcinoma |