| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 26053 |
Name | AUTS2 |
Synonymous | FBRSL2;autism susceptibility candidate 2;AUTS2;autism susceptibility candidate 2 |
Definition | autism susceptibility gene 2 protein|autism-related protein 1 |
Position | 7q11.22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for AUTS2 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
AUTS2_P1134>HHP; chr7; 70255603 |
IPROTEINI-; -/ACCACC; SOMATIC | MB; PUTATIVE-HQ; TARGETED_SEQUENCING |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.509A>T; p.K170M; |
lung | carcinoma; small_cell_carcinoma |
c.419G>A; p.S140N; |
lung | carcinoma; non_small_cell_carcinoma |
c.1298T>C; p.L433P; |
NS | malignant_melanoma |
c.3186G>A; p.P1062P; |
NS | malignant_melanoma |
c.1346_1347insA; p.P450fs*60; |
NS | malignant_melanoma |
c.1770delC; p.P592fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2305G>A; p.V769I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2681A>G; p.E894G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1249C>T; p.P417S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1774C>G; p.P592A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.2375C>T; p.P792L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.2761G>A; p.G921R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.304C>T; p.L102L; |
liver | carcinoma |
c.3142C>T; p.P1048S; 7:69893280-69893280 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3040G>A; p.V1014M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.690+6_690+7insAC; p.?; |
eye; uveal_tract | malignant_melanoma |
c.386T>C; p.L129P; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1851C>T; p.V617V; |
oesophagus | carcinoma; adenocarcinoma |
c.3239G>A; p.R1080Q; |
oesophagus | carcinoma; adenocarcinoma |
c.1876C>T; p.H626Y; |
oesophagus | carcinoma; adenocarcinoma |
c.764C>T; p.T255M; |
oesophagus | carcinoma; adenocarcinoma |
c.3012G>A; p.E1004E; |
oesophagus | carcinoma; adenocarcinoma |
c.2450G>A; p.R817H; |
oesophagus | carcinoma; adenocarcinoma |
c.1484G>A; p.R495Q; |
oesophagus | carcinoma; adenocarcinoma |
c.607C>T; p.R203W; |
oesophagus | carcinoma; adenocarcinoma |
c.3561G>A; p.P1187P; |
oesophagus | carcinoma; adenocarcinoma |
c.3688C>T; p.R1230C; |
oesophagus | carcinoma; adenocarcinoma |
c.2100C>G; p.H700Q; |
lung | carcinoma; non_small_cell_carcinoma |
c.2900G>T; p.G967V; |
liver | carcinoma |
c.1660G>A; p.A554T; |
liver | carcinoma; hepatocellular_carcinoma |
c.607C>T; p.R203W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1155G>T; p.Q385H; |
liver | carcinoma |
c.419G>A; p.S140N; |
lung | carcinoma; adenocarcinoma |
c.2202C>T; p.F734F; |
skin; trunk | malignant_melanoma; nodular |
c.2908G>T; p.A970S; |
lung | carcinoma; adenocarcinoma |
c.3734G>A; p.R1245K; |
lung | carcinoma; adenocarcinoma |
c.1552C>T; p.P518S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.1577A>T; p.Q526L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.1483C>A; p.R495R; |
lung | carcinoma; adenocarcinoma |
c.2488G>T; p.V830L; |
lung | carcinoma; adenocarcinoma |
c.3138G>T; p.M1046I; |
lung | carcinoma; adenocarcinoma |
c.1529G>C; p.R510P; |
lung | carcinoma; adenocarcinoma |
c.1468+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2729A>G; p.K910R; |
lung | carcinoma; adenocarcinoma |
c.2671A>T; p.K891*; |
lung | carcinoma; adenocarcinoma |
c.1405C>T; p.P469S; |
lung | carcinoma; adenocarcinoma |
c.3685G>T; p.G1229C; |
lung | carcinoma; adenocarcinoma |
c.798G>A; p.P266P; |
lung | carcinoma; adenocarcinoma |
c.3648G>T; p.A1216A; |
lung | carcinoma; adenocarcinoma |
c.1476C>G; p.D492E; |
lung | carcinoma; adenocarcinoma |
c.595C>T; p.R199W; |
lung | carcinoma; adenocarcinoma |
c.2161A>G; p.T721A; |
lung | carcinoma; adenocarcinoma |
c.2072C>T; p.P691L; |
lung | carcinoma; adenocarcinoma |
c.2349_2350GC>TT; p.V783>?; |
lung | carcinoma; adenocarcinoma |
c.3688C>T; p.R1230C; |
lung | carcinoma; adenocarcinoma |
c.1175C>T; p.S392L; |
pancreas | carcinoma; ductal_carcinoma |
c.349C>T; p.R117C; |
breast | carcinoma |
c.3579C>G; p.H1193Q; |
bone | chondrosarcoma |
c.2728A>G; p.K910E; |
kidney | carcinoma; renal_cell_carcinoma |
c.3401_3402insACCACC; p.P1134_L1135insPP; |
central_nervous_system; cerebellum | primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype |
c.2701C>T; p.R901C; |
lung | carcinoma; adenocarcinoma |
c.1554C>G; p.P518P; |
lung | carcinoma; adenocarcinoma |
c.356C>T; p.T119M; |
lung | carcinoma; adenocarcinoma |
c.2071C>T; p.P691S; |
lung | carcinoma; squamous_cell_carcinoma |
c.338G>T; p.R113L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1290G>A; p.P430P; |
ovary | carcinoma; serous_carcinoma |
c.1039G>A; p.E347K; 7:69866088-69866088 |
ovary | carcinoma; serous_carcinoma |
c.1788C>T; p.P596P; 7:69874524-69874524 |
ovary | carcinoma; serous_carcinoma |
c.1756G>T; p.A586S; |
lung | carcinoma; adenocarcinoma |
c.3276G>A; p.R1092R; |
lung | carcinoma; squamous_cell_carcinoma |
c.1165C>A; p.Q389K; |
lung | carcinoma; adenocarcinoma |
c.1644C>T; p.H548H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1899G>T; p.P633P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.646G>T; p.G216*; |
lung | carcinoma; adenocarcinoma |
c.608G>T; p.R203L; |
lung | carcinoma; adenocarcinoma |
c.3330C>T; p.Y1110Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.3461G>A; p.R1154H; |
lung | carcinoma; adenocarcinoma |
c.2986G>A; p.A996T; |
ovary | carcinoma; serous_carcinoma |
c.2596C>G; p.L866V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3087G>T; p.T1029T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.596G>A; p.R199Q; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2116G>T; p.A706S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.511G>C; p.A171P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3177G>T; p.E1059D; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1613C>T; p.T538M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.660C>T; p.F220F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.466C>T; p.R156C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1150G>A; p.A384T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3441delC; p.H1148fs*70; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3439G>A; p.G1147S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1614G>A; p.T538T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.337C>T; p.R113C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3168G>A; p.P1056P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3131G>A; p.R1044H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.384A>G; p.A128A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206G>A; p.R69Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2892G>A; p.P964P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1096T>C; p.S366P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3178C>T; p.R1060C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.859G>T; p.E287*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.936G>A; p.E312E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.480G>A; p.Q160Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.453T>A; p.D151E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1845C>T; p.I615I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1489G>A; p.E497K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3465G>T; p.L1155F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3710C>T; p.T1237M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.365C>T; p.T122I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1792G>T; p.G598C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.459A>C; p.E153D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1039G>C; p.E347Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1040A>G; p.E347G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1047G>A; p.Q349Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2399C>T; p.P800L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1316G>A; p.S439N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3693G>A; p.P1231P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2283C>T; p.F761F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2784C>T; p.A928A; |
breast | carcinoma |
c.2335G>T; p.D779Y; |
breast | carcinoma |
c.291C>T; p.V97V; |
breast | carcinoma |
c.602G>T; p.S201I; |
urinary_tract; bladder | carcinoma |
c.3054C>T; p.P1018P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1252G>A; p.A418T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.634C>T; p.P212S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2705A>G; p.K902R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406C>A; p.H136N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3526G>A; p.D1176N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1034C>A; p.P345H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.770C>T; p.P257L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1047G>T; p.Q349H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.912G>T; p.Q304H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1898C>T; p.P633L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3777A>C; p.R1259R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3375_3377delCCA; p.H1133delH; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2406G>A; p.S802S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3489G>A; p.E1163E; |
breast | carcinoma |
c.1694A>C; p.D565A; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.595C>T; p.R199W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1759G>A; p.V587M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3506C>G; p.S1169C; |
urinary_tract; bladder | carcinoma |
c.323T>G; p.L108R; |
urinary_tract; bladder | carcinoma |
c.379G>T; p.E127*; |
breast | carcinoma |
c.2370C>T; p.H790H; |
breast | carcinoma |
c.928C>A; p.Q310K; |
prostate | carcinoma; adenocarcinoma |
c.1148C>G; p.S383C; |
urinary_tract; bladder | carcinoma |
c.2305G>A; p.V769I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1040A>G; p.E347G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3718C>T; p.L1240L; |
urinary_tract; bladder | carcinoma |
c.696A>G; p.S232S; |
prostate | carcinoma |
c.2303C>T; p.S768F; |
skin | malignant_melanoma |
c.2398C>G; p.P800A; |
skin | malignant_melanoma |
c.1288C>T; p.P430S; |
skin | malignant_melanoma |
c.484C>T; p.L162F; |
skin; upper_leg | malignant_melanoma |
c.369G>C; p.K123N; |
skin | malignant_melanoma |
c.3707G>A; p.R1236K; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1387C>T; p.P463S; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.3543C>G; p.H1181Q; |
skin; face | carcinoma; squamous_cell_carcinoma |
c.1792G>A; p.G598S; |
stomach | adenocarcinoma |
c.323T>G; p.L108R; |
stomach | adenocarcinoma |