| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8522 |
Name | GAS7 |
Synonymous | MLL/GAS7;growth arrest-specific 7;GAS7;growth arrest-specific 7 |
Definition | MLL/GAS7 fusion protein|growth arrest-specific protein 7 |
Position | 17p13.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for GAS7 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
GAS7_E179_E7splice_region; chr17; 9846435 |
SUB; SPLICE_REGION; C; T/T; SOMATIC | HYPO; VALID; |
GAS7_E179_E7splice_region; chr17; 9846435 |
SUB; SPLICE_REGION; C; T/T; SOMATIC | HYPO; VALID; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.788T>A; p.L263*; |
liver | carcinoma; hepatocellular_carcinoma |
c.1338G>T; p.Q446H; |
liver | carcinoma; hepatocellular_carcinoma |
c.1129A>G; p.T377A; |
lung | carcinoma; squamous_cell_carcinoma |
c.10G>A; p.A4T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.275G>A; p.R92Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1397C>A; p.T466K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.249G>A; p.W83*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.472-7T>A; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.384A>G; p.T128T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1037G>A; p.R346Q; |
oesophagus | carcinoma; adenocarcinoma |
c.13C>T; p.R5C; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.1024G>T; p.A342S; |
liver | carcinoma |
c.272G>C; p.G91A; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.1077C>G; p.I359M; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.922C>G; p.R308G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.476T>A; p.L159Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.564G>T; p.P188P; |
lung | carcinoma; adenocarcinoma |
c.383C>A; p.T128K; |
lung | carcinoma; adenocarcinoma |
c.850G>T; p.D284Y; |
lung | carcinoma; adenocarcinoma |
c.327C>A; p.S109R; |
lung | carcinoma; adenocarcinoma |
c.1025C>A; p.A342D; |
lung | carcinoma; adenocarcinoma |
c.728_729AA>TT; p.E243>?; |
lung | carcinoma; adenocarcinoma |
c.993C>A; p.S331R; |
lung | carcinoma; adenocarcinoma |
c.1212C>T; p.T404T; |
lung | carcinoma; adenocarcinoma |
c.671T>A; p.L224H; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.995G>A; p.R332H; |
large_intestine; colon | adenoma |
c.1020delG; p.A342fs*11; |
pancreas | carcinoma; ductal_carcinoma |
c.588C>T; p.T196T; |
prostate | carcinoma |
c.399C>T; p.H133H; |
pancreas | NS |
c.517A>G; p.T173A; |
liver | carcinoma |
c.652G>T; p.A218S; |
prostate | adenoma |
c.756G>A; p.A252A; |
endometrium | carcinoma; serous_carcinoma |
c.1374G>C; p.E458D; |
lung | carcinoma; adenocarcinoma |
c.361C>T; p.H121Y; |
lung | carcinoma; adenocarcinoma |
c.190G>A; p.G64R; |
lung | carcinoma; squamous_cell_carcinoma |
c.205C>T; p.P69S; |
lung | carcinoma; squamous_cell_carcinoma |
c.820G>C; p.A274P; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.564G>C; p.P188P; |
lung | carcinoma; adenocarcinoma |
c.643G>A; p.G215S; |
lung | carcinoma; adenocarcinoma |
c.1283A>T; p.Q428L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.304+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.187C>A; p.P63T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1019G>A; p.R340Q; |
lung | carcinoma; adenocarcinoma |
c.564G>T; p.P188P; |
lung | carcinoma; adenocarcinoma |
c.475C>T; p.L159L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.977G>A; p.R326H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1163A>G; p.D388G; |
large_intestine; colon | NS |
c.264G>A; p.S88S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.848C>T; p.A283V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.507C>T; p.S169S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.954C>T; p.C318C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1019G>A; p.R340Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.848C>T; p.A283V; |
breast | carcinoma |
c.756G>A; p.A252A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.489G>A; p.S163S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1154G>A; p.R385H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.756G>A; p.A252A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.910C>T; p.L304L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.339G>A; p.G113G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.460G>A; p.G154S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.400G>A; p.A134T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.894C>T; p.S298S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.822G>A; p.A274A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.588C>T; p.T196T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.315G>C; p.W105C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.79G>A; p.E27K; |
urinary_tract; bladder | carcinoma |
c.923G>A; p.R308H; |
prostate | carcinoma |
c.901G>A; p.E301K; |
skin | malignant_melanoma |
c.1147C>T; p.L383F; |
skin | malignant_melanoma |
c.472-6C>A; p.?; |
skin | malignant_melanoma |
c.615+10G>A; p.?; |
stomach | adenocarcinoma |