| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5978 |
Name | REST |
Synonymous | NRSF|XBR;RE1-silencing transcription factor;REST;RE1-silencing transcription factor |
Definition | neural-restrictive silencer factor|neuron restrictive silencer factor|repressor binding to the X2 box |
Position | 4q12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for REST | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
REST_Q638E; chr4; 57796936 |
SUB; MISSENSE; C; C/G; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.509C>G; p.S170C; |
liver | carcinoma; hepatocellular_carcinoma |
c.2957C>T; p.S986F; |
skin; arm | malignant_melanoma |
c.313G>T; p.G105*; |
liver | carcinoma; hepatocellular_carcinoma |
c.314G>T; p.G105V; |
liver | carcinoma; hepatocellular_carcinoma |
c.669C>A; p.Y223*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.669C>A; p.Y223*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2938G>A; p.E980K; |
skin; upper_arm | malignant_melanoma |
c.2962A>C; p.T988P; |
skin; upper_arm | malignant_melanoma |
c.602C>T; p.S201F; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2971G>A; p.A991T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.746A>C; p.K249T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2087C>G; p.T696R; |
lung | carcinoma; small_cell_carcinoma |
c.3035A>T; p.H1012L; |
liver | carcinoma; hepatocellular_carcinoma |
c.3035A>T; p.H1012L; |
liver | carcinoma; hepatocellular_carcinoma |
c.1934G>A; p.R645Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2254C>A; p.P752T; 4:57492035-57492035 |
skin | malignant_melanoma |
c.2254C>A; p.P752T; 4:57492035-57492035 |
skin | malignant_melanoma |
c.412A>T; p.K138*; |
large_intestine | carcinoma; adenocarcinoma |
c.2259G>A; p.M753I; |
ovary | carcinoma; serous_carcinoma |
c.2253T>C; p.P751P; |
oesophagus | carcinoma; adenocarcinoma |
c.2046T>C; p.L682L; |
oesophagus | carcinoma; adenocarcinoma |
c.2550T>C; p.L850L; |
oesophagus | carcinoma; adenocarcinoma |
c.3150C>G; p.A1050A; |
stomach | carcinoma; adenocarcinoma |
c.1865A>G; p.Q622R; 4:57491646-57491646 |
lung | carcinoma; adenocarcinoma |
c.1832C>T; p.P611L; |
lung | carcinoma; adenocarcinoma |
c.3241C>T; p.R1081C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2241A>G; p.I747M; |
liver | carcinoma |
c.1638G>A; p.K546K; |
liver | carcinoma |
c.1679A>C; p.K560T; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2241A>G; p.I747M; |
lung | carcinoma; adenocarcinoma |
c.2241A>G; p.I747M; |
lung | carcinoma; adenocarcinoma |
c.630T>C; p.D210D; |
lung | carcinoma; adenocarcinoma |
c.2259_2306del48; p.M753_P768del16; |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic |
c.2241A>G; p.I747M; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1865A>G; p.Q622R; 4:57491646-57491646 |
lung | carcinoma; non_small_cell_carcinoma |
c.2943A>C; p.E981D; |
prostate | carcinoma |
c.2241A>G; p.I747M; |
liver | carcinoma |
c.2241A>G; p.I747M; |
liver | carcinoma |
c.1912C>G; p.Q638E; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.2230C>T; p.P744S; |
autonomic_ganglia | neuroblastoma |
c.760_763delACAT; p.Y255fs*3; 4:57472321-57472324 |
ovary | carcinoma; serous_carcinoma |
c.2638C>T; p.Q880*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2193G>T; p.M731I; |
lung | carcinoma; squamous_cell_carcinoma |
c.2806G>T; p.G936C; |
lung | carcinoma; squamous_cell_carcinoma |
c.953A>T; p.H318L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1141G>C; p.E381Q; |
lung | carcinoma; adenocarcinoma |
c.1496T>A; p.V499E; |
lung | carcinoma; squamous_cell_carcinoma |
c.3215G>A; p.G1072E; |
lung | carcinoma; squamous_cell_carcinoma |
c.407C>T; p.S136L; |
lung | carcinoma; adenocarcinoma |
c.1275G>A; p.V425V; |
lung | carcinoma; squamous_cell_carcinoma |
c.1740G>C; p.K580N; |
lung | carcinoma; squamous_cell_carcinoma |
c.2291A>T; p.E764V; |
lung | carcinoma; squamous_cell_carcinoma |
c.2726T>G; p.L909R; |
lung | carcinoma; adenocarcinoma |
c.1460A>T; p.Q487L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3131G>A; p.R1044K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.367C>G; p.P123A; |
lung | carcinoma; adenocarcinoma |
c.1745A>T; p.K582I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2450G>A; p.R817Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1416T>A; p.D472E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1046G>A; p.R349H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1888C>T; p.P630S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.658C>T; p.R220C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2275G>T; p.E759*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3010G>A; p.E1004K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2708A>C; p.D903A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.552G>T; p.K184N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2887A>C; p.N963H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1602G>T; p.V534V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1141G>T; p.E381*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2449C>T; p.R817*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.8C>T; p.T3I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.904C>T; p.R302C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2293C>A; p.L765M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.898+7G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.971G>A; p.R324H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1412G>T; p.R471I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2370G>T; p.K790N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1520G>A; p.G507E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2695G>A; p.A899T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.745A>G; p.K249E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1948G>A; p.E650K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2432C>T; p.S811F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3079A>G; p.S1027G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3121G>T; p.E1041*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1716T>C; p.N572N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2743G>A; p.E915K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1883T>G; p.V628G; |
breast | carcinoma |
c.2153C>A; p.S718Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2902G>T; p.E968*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.680G>A; p.R227Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.552G>T; p.K184N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1396G>A; p.V466I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2207C>T; p.P736L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1726delA; p.S578fs*7; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3241C>T; p.R1081C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2406G>A; p.E802E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.778G>T; p.E260*; |
breast | carcinoma |
c.2193G>A; p.M731I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2193G>A; p.M731I; |
cervix | carcinoma; squamous_cell_carcinoma |
c.2390C>T; p.P797L; |
prostate | carcinoma; adenocarcinoma |
c.810delT; p.P272fs*48; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1081C>T; p.L361F; |
skin; mucosal | malignant_melanoma |
c.2158C>A; p.P720T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2008G>A; p.V670M; |
stomach | adenocarcinoma |