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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; SOMATICMB; PUTATIVE-HQ; TARGETED_SEQUENCING

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.509A>T; p.K170M;

lungcarcinoma; small_cell_carcinoma

c.419G>A; p.S140N;

lungcarcinoma; non_small_cell_carcinoma

c.1298T>C; p.L433P;

NSmalignant_melanoma

c.3186G>A; p.P1062P;

NSmalignant_melanoma

c.1346_1347insA; p.P450fs*60;

NSmalignant_melanoma

c.1770delC; p.P592fs*2;

large_intestine; coloncarcinoma; adenocarcinoma

c.2305G>A; p.V769I;

large_intestine; coloncarcinoma; adenocarcinoma

c.2681A>G; p.E894G;

large_intestine; coloncarcinoma; adenocarcinoma

c.1249C>T; p.P417S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1774C>G; p.P592A;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myeloma

c.2375C>T; p.P792L;

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndrome

c.2761G>A; p.G921R;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myeloma

c.304C>T; p.L102L;

livercarcinoma

c.3142C>T; p.P1048S; 7:69893280-69893280

central_nervous_system; brainglioma; astrocytoma_Grade_IV

c.3040G>A; p.V1014M;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemia

c.690+6_690+7insAC; p.?;

eye; uveal_tractmalignant_melanoma

c.386T>C; p.L129P;

oesophagus; lower_thirdcarcinoma; adenocarcinoma

c.1851C>T; p.V617V;

oesophaguscarcinoma; adenocarcinoma

c.3239G>A; p.R1080Q;

oesophaguscarcinoma; adenocarcinoma

c.1876C>T; p.H626Y;

oesophaguscarcinoma; adenocarcinoma

c.764C>T; p.T255M;

oesophaguscarcinoma; adenocarcinoma

c.3012G>A; p.E1004E;

oesophaguscarcinoma; adenocarcinoma

c.2450G>A; p.R817H;

oesophaguscarcinoma; adenocarcinoma

c.1484G>A; p.R495Q;

oesophaguscarcinoma; adenocarcinoma

c.607C>T; p.R203W;

oesophaguscarcinoma; adenocarcinoma

c.3561G>A; p.P1187P;

oesophaguscarcinoma; adenocarcinoma

c.3688C>T; p.R1230C;

oesophaguscarcinoma; adenocarcinoma

c.2100C>G; p.H700Q;

lungcarcinoma; non_small_cell_carcinoma

c.2900G>T; p.G967V;

livercarcinoma

c.1660G>A; p.A554T;

livercarcinoma; hepatocellular_carcinoma

c.607C>T; p.R203W;

large_intestine; coloncarcinoma; adenocarcinoma

c.1155G>T; p.Q385H;

livercarcinoma

c.419G>A; p.S140N;

lungcarcinoma; adenocarcinoma

c.2202C>T; p.F734F;

skin; trunkmalignant_melanoma; nodular

c.2908G>T; p.A970S;

lungcarcinoma; adenocarcinoma

c.3734G>A; p.R1245K;

lungcarcinoma; adenocarcinoma

c.1552C>T; p.P518S;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphoma

c.1577A>T; p.Q526L;

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphoma

c.1483C>A; p.R495R;

lungcarcinoma; adenocarcinoma

c.2488G>T; p.V830L;

lungcarcinoma; adenocarcinoma

c.3138G>T; p.M1046I;

lungcarcinoma; adenocarcinoma

c.1529G>C; p.R510P;

lungcarcinoma; adenocarcinoma

c.1468+1G>T; p.?;

lungcarcinoma; adenocarcinoma

c.2729A>G; p.K910R;

lungcarcinoma; adenocarcinoma

c.2671A>T; p.K891*;

lungcarcinoma; adenocarcinoma

c.1405C>T; p.P469S;

lungcarcinoma; adenocarcinoma

c.3685G>T; p.G1229C;

lungcarcinoma; adenocarcinoma

c.798G>A; p.P266P;

lungcarcinoma; adenocarcinoma

c.3648G>T; p.A1216A;

lungcarcinoma; adenocarcinoma

c.1476C>G; p.D492E;

lungcarcinoma; adenocarcinoma

c.595C>T; p.R199W;

lungcarcinoma; adenocarcinoma

c.2161A>G; p.T721A;

lungcarcinoma; adenocarcinoma

c.2072C>T; p.P691L;

lungcarcinoma; adenocarcinoma

c.2349_2350GC>TT; p.V783>?;

lungcarcinoma; adenocarcinoma

c.3688C>T; p.R1230C;

lungcarcinoma; adenocarcinoma

c.1175C>T; p.S392L;

pancreascarcinoma; ductal_carcinoma

c.349C>T; p.R117C;

breastcarcinoma

c.3579C>G; p.H1193Q;

bonechondrosarcoma

c.2728A>G; p.K910E;

kidneycarcinoma; renal_cell_carcinoma

c.3401_3402insACCACC; p.P1134_L1135insPP;

central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype

c.2701C>T; p.R901C;

lungcarcinoma; adenocarcinoma

c.1554C>G; p.P518P;

lungcarcinoma; adenocarcinoma

c.356C>T; p.T119M;

lungcarcinoma; adenocarcinoma

c.2071C>T; p.P691S;

lungcarcinoma; squamous_cell_carcinoma

c.338G>T; p.R113L;

lungcarcinoma; squamous_cell_carcinoma

c.1290G>A; p.P430P;

ovarycarcinoma; serous_carcinoma

c.1039G>A; p.E347K; 7:69866088-69866088

ovarycarcinoma; serous_carcinoma

c.1788C>T; p.P596P; 7:69874524-69874524

ovarycarcinoma; serous_carcinoma

c.1756G>T; p.A586S;

lungcarcinoma; adenocarcinoma

c.3276G>A; p.R1092R;

lungcarcinoma; squamous_cell_carcinoma

c.1165C>A; p.Q389K;

lungcarcinoma; adenocarcinoma

c.1644C>T; p.H548H;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.1899G>T; p.P633P;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.646G>T; p.G216*;

lungcarcinoma; adenocarcinoma

c.608G>T; p.R203L;

lungcarcinoma; adenocarcinoma

c.3330C>T; p.Y1110Y;

lungcarcinoma; squamous_cell_carcinoma

c.3461G>A; p.R1154H;

lungcarcinoma; adenocarcinoma

c.2986G>A; p.A996T;

ovarycarcinoma; serous_carcinoma

c.2596C>G; p.L866V;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3087G>T; p.T1029T;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.596G>A; p.R199Q;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.2116G>T; p.A706S;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.511G>C; p.A171P;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.3177G>T; p.E1059D;

lung; right_lower_lobecarcinoma; adenocarcinoma

c.1613C>T; p.T538M;

endometriumcarcinoma; endometrioid_carcinoma

c.660C>T; p.F220F;

endometriumcarcinoma; endometrioid_carcinoma

c.466C>T; p.R156C;

endometriumcarcinoma; endometrioid_carcinoma

c.1150G>A; p.A384T;

large_intestine; coloncarcinoma; adenocarcinoma

c.3441delC; p.H1148fs*70;

large_intestine; coloncarcinoma; adenocarcinoma

c.3439G>A; p.G1147S;

large_intestine; coloncarcinoma; adenocarcinoma

c.1614G>A; p.T538T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.337C>T; p.R113C;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3168G>A; p.P1056P;

large_intestine; caecumcarcinoma; adenocarcinoma

c.3131G>A; p.R1044H;

large_intestine; coloncarcinoma; adenocarcinoma

c.384A>G; p.A128A;

large_intestine; coloncarcinoma; adenocarcinoma

c.206G>A; p.R69Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.2892G>A; p.P964P;

large_intestine; coloncarcinoma; adenocarcinoma

c.1096T>C; p.S366P;

large_intestine; coloncarcinoma; adenocarcinoma

c.3178C>T; p.R1060C;

large_intestine; coloncarcinoma; adenocarcinoma

c.859G>T; p.E287*;

large_intestine; caecumcarcinoma; adenocarcinoma

c.936G>A; p.E312E;

large_intestine; coloncarcinoma; adenocarcinoma

c.480G>A; p.Q160Q;

large_intestine; caecumcarcinoma; adenocarcinoma

c.453T>A; p.D151E;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1845C>T; p.I615I;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1489G>A; p.E497K;

large_intestine; rectumcarcinoma; adenocarcinoma

c.3465G>T; p.L1155F;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.3710C>T; p.T1237M;

endometriumcarcinoma; endometrioid_carcinoma

c.365C>T; p.T122I;

endometriumcarcinoma; endometrioid_carcinoma

c.1792G>T; p.G598C;

endometriumcarcinoma; endometrioid_carcinoma

c.459A>C; p.E153D;

endometriumcarcinoma; endometrioid_carcinoma

c.1039G>C; p.E347Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.1040A>G; p.E347G;

large_intestine; caecumcarcinoma; adenocarcinoma

c.1047G>A; p.Q349Q;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.2399C>T; p.P800L;

endometriumcarcinoma; endometrioid_carcinoma

c.1316G>A; p.S439N;

endometriumcarcinoma; endometrioid_carcinoma

c.3693G>A; p.P1231P;

endometriumcarcinoma; endometrioid_carcinoma

c.2283C>T; p.F761F;

endometriumcarcinoma; endometrioid_carcinoma

c.2784C>T; p.A928A;

breastcarcinoma

c.2335G>T; p.D779Y;

breastcarcinoma

c.291C>T; p.V97V;

breastcarcinoma

c.602G>T; p.S201I;

urinary_tract; bladdercarcinoma

c.3054C>T; p.P1018P;

kidneycarcinoma; clear_cell_renal_cell_carcinoma

c.1252G>A; p.A418T;

endometriumcarcinoma; endometrioid_carcinoma

c.634C>T; p.P212S;

endometriumcarcinoma; endometrioid_carcinoma

c.2705A>G; p.K902R;

endometriumcarcinoma; endometrioid_carcinoma

c.406C>A; p.H136N;

large_intestine; coloncarcinoma; adenocarcinoma

c.3526G>A; p.D1176N;

large_intestine; coloncarcinoma; adenocarcinoma

c.1034C>A; p.P345H;

large_intestine; caecumcarcinoma; adenocarcinoma

c.770C>T; p.P257L;

large_intestine; coloncarcinoma; adenocarcinoma

c.1047G>T; p.Q349H;

large_intestine; coloncarcinoma; adenocarcinoma

c.912G>T; p.Q304H;

endometriumcarcinoma; endometrioid_carcinoma

c.1898C>T; p.P633L;

endometriumcarcinoma; endometrioid_carcinoma

c.3777A>C; p.R1259R;

endometriumcarcinoma; endometrioid_carcinoma

c.3375_3377delCCA; p.H1133delH;

endometriumcarcinoma; endometrioid_carcinoma

c.2406G>A; p.S802S;

endometriumcarcinoma; endometrioid_carcinoma

c.3489G>A; p.E1163E;

breastcarcinoma

c.1694A>C; p.D565A;

large_intestine; rectumcarcinoma; adenocarcinoma

c.595C>T; p.R199W;

large_intestine; rectumcarcinoma; adenocarcinoma

c.1759G>A; p.V587M;

endometriumcarcinoma; endometrioid_carcinoma

c.3506C>G; p.S1169C;

urinary_tract; bladdercarcinoma

c.323T>G; p.L108R;

urinary_tract; bladdercarcinoma

c.379G>T; p.E127*;

breastcarcinoma

c.2370C>T; p.H790H;

breastcarcinoma

c.928C>A; p.Q310K;

prostatecarcinoma; adenocarcinoma

c.1148C>G; p.S383C;

urinary_tract; bladdercarcinoma

c.2305G>A; p.V769I;

large_intestine; coloncarcinoma; adenocarcinoma

c.1040A>G; p.E347G;

large_intestine; coloncarcinoma; adenocarcinoma

c.3718C>T; p.L1240L;

urinary_tract; bladdercarcinoma

c.696A>G; p.S232S;

prostatecarcinoma

c.2303C>T; p.S768F;

skinmalignant_melanoma

c.2398C>G; p.P800A;

skinmalignant_melanoma

c.1288C>T; p.P430S;

skinmalignant_melanoma

c.484C>T; p.L162F;

skin; upper_legmalignant_melanoma

c.369G>C; p.K123N;

skinmalignant_melanoma

c.3707G>A; p.R1236K;

skin; facecarcinoma; squamous_cell_carcinoma

c.1387C>T; p.P463S;

skin; scalpcarcinoma; squamous_cell_carcinoma

c.3543C>G; p.H1181Q;

skin; facecarcinoma; squamous_cell_carcinoma

c.1792G>A; p.G598S;

stomachadenocarcinoma

c.323T>G; p.L108R;

stomachadenocarcinoma


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