| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2697 |
Name | GJA1 |
Synonymous | AVSD3|CX43|DFNB38|GJAL|HSS|ODDD;gap junction protein, alpha 1, 43kDa;GJA1;gap junction protein, alpha 1, 43kDa |
Definition | connexin 43|connexin-43|gap junction 43 kDa heart protein|gap junction alpha-1 protein |
Position | 6q21-q23.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for GJA1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
GJA1_A311fs; chr6; 121768925 |
DEL; FRAMESHIFT; C; C/-; SOMATIC | RHB; PUTATIVE-HQ; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.581A>T; p.H194L; |
lung | carcinoma; small_cell_carcinoma |
c.375G>A; p.M125I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.679G>T; p.E227*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.549T>A; p.A183A; |
pancreas | carcinoma |
c.968C>T; p.A323V; |
liver | carcinoma; hepatocellular_carcinoma |
c.968C>T; p.A323V; |
liver | carcinoma; hepatocellular_carcinoma |
c.157C>G; p.R53G; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.433G>T; p.V145L; |
oesophagus | carcinoma; adenocarcinoma |
c.896G>A; p.R299H; |
oesophagus | carcinoma; adenocarcinoma |
c.718G>C; p.V240L; |
liver | carcinoma; hepatocellular_carcinoma |
c.461C>A; p.T154N; |
liver | carcinoma; hepatocellular_carcinoma |
c.826G>A; p.A276T; |
liver | carcinoma |
c.1108C>A; p.R370S; |
lung | carcinoma; adenocarcinoma |
c.611C>A; p.T204K; |
lung | carcinoma; adenocarcinoma |
c.39G>T; p.K13N; |
lung | carcinoma; adenocarcinoma |
c.1088C>T; p.P363L; |
autonomic_ganglia | neuroblastoma |
c.50A>G; p.Y17C; |
breast | carcinoma |
c.368T>C; p.V123A; |
liver | carcinoma |
c.281C>A; p.A94D; |
autonomic_ganglia | neuroblastoma |
c.865G>C; p.V289L; 6:121810557-121810557 |
ovary | carcinoma; serous_carcinoma |
c.2T>A; p.M1K; |
lung | carcinoma; squamous_cell_carcinoma |
c.141T>C; p.D47D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1080C>A; p.D360E; 6:121810772-121810772 |
ovary | carcinoma; serous_carcinoma |
c.16G>A; p.A6T; |
lung | carcinoma; adenocarcinoma |
c.1106G>A; p.S369N; |
lung | carcinoma; adenocarcinoma |
c.679G>T; p.E227*; |
lung | carcinoma; squamous_cell_carcinoma |
c.442C>T; p.R148*; |
lung | carcinoma; squamous_cell_carcinoma |
c.51C>T; p.Y17Y; |
lung | carcinoma; adenocarcinoma |
c.942T>G; p.S314R; |
lung | carcinoma; adenocarcinoma |
c.893G>C; p.C298S; |
lung | carcinoma; squamous_cell_carcinoma |
c.124G>T; p.E42*; |
lung | carcinoma; adenocarcinoma |
c.380T>G; p.L127W; |
breast | carcinoma |
c.573C>A; p.P191P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.715C>T; p.R239W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1085G>A; p.R362Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.716G>A; p.R239Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1089T>G; p.P363P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.457C>T; p.R153*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.836C>T; p.S279L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.547G>A; p.A183T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.302G>A; p.R101Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.675C>A; p.I225I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1018G>T; p.D340Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.950A>G; p.Q317R; |
breast | carcinoma |
c.263C>T; p.P88L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.651C>A; p.S217S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.301C>T; p.R101*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.715C>T; p.R239W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.157C>T; p.R53C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.119C>T; p.A40V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.454C>A; p.L152M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.747G>T; p.A249A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.969G>A; p.A323A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.443G>A; p.R148Q; |
cervix | carcinoma; squamous_cell_carcinoma |
c.318G>A; p.L106L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.1042G>A; p.A348T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.293A>C; p.Y98S; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.293A>C; p.Y98S; |
central_nervous_system; brain | glioma; astrocytoma_Grade_II |
c.620C>A; p.T207N; |
skin | malignant_melanoma |
c.766C>A; p.P256T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.342G>T; p.K114N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |