| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6469 |
Name | SHH |
Synonymous | HHG1|HLP3|HPE3|MCOPCB5|SMMCI|TPT|TPTPS;sonic hedgehog;SHH;sonic hedgehog |
Definition | sonic hedgehog homolog|sonic hedgehog protein |
Position | 7q36 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SHH | ||
PCGP somatic mutation [Top] | ||
There is no record for SHH | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1102G>A; p.E368K; |
lung | carcinoma; adenocarcinoma |
c.772C>T; p.R258W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.227T>C; p.L76P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.695G>A; p.R232Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1093G>A; p.A365T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.88T>G; p.F30V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.88T>G; p.F30V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.88T>G; p.F30V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.88T>G; p.F30V; |
eye; uveal_tract | malignant_melanoma; mixed |
c.88T>G; p.F30V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.644T>C; p.V215A; |
oesophagus | carcinoma; adenocarcinoma |
c.1249G>A; p.A417T; |
oesophagus | carcinoma; adenocarcinoma |
c.664G>A; p.D222N; |
liver | carcinoma |
c.186T>C; p.Y62Y; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.619C>A; p.L207M; |
skin; extremity | malignant_melanoma |
c.171C>A; p.G57G; |
autonomic_ganglia | neuroblastoma |
c.462C>T; p.D154D; 7:155291851-155291851 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.760G>A; p.V254M; 7:155288984-155288984 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.691G>A; p.G231S; 7:155289053-155289053 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.687C>T; p.D229D; |
ovary | carcinoma; serous_carcinoma |
c.85G>A; p.G29R; |
lung | carcinoma; squamous_cell_carcinoma |
c.555G>A; p.V185V; |
lung | carcinoma; squamous_cell_carcinoma |
c.442A>C; p.I148L; |
lung | carcinoma; squamous_cell_carcinoma |
c.342G>T; p.M114I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.171C>T; p.G57G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.52G>A; p.V18I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.140T>G; p.F47C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.247G>A; p.D83N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.367C>T; p.R123W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.460G>A; p.D154N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.683A>G; p.D228G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.503C>T; p.A168V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.732C>T; p.R244R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.317T>C; p.L106S; |
stomach | adenocarcinoma |