Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
dbEMT 2.0
General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

6469

Name

SHH

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.186T>C; p.Y62Y; 7:155811937-155811937

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.375C>T; p.T125T; 7:155806483-155806483

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.342G>T; p.M114I; 7:155806516-155806516

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.510C>T; p.F170F; 7:155806348-155806348

 skinmalignant_melanomaSubstitution - coding silent

c.510C>T; p.F170F; 7:155806348-155806348

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.413C>T; p.S138F; 7:155806445-155806445

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.661G>A; p.G221R; 7:155803628-155803628

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.247G>A; p.D83N; 7:155811876-155811876

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.619C>A; p.L207M; 7:155803670-155803670

 NSmalignant_melanomaSubstitution - Missense

c.664G>A; p.D222N; 7:155803625-155803625

 livercarcinomaSubstitution - Missense

c.235_236insC; p.N79fs*9; 7:155811887-155811888

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.644T>C; p.V215A; 7:155803645-155803645

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.D222N; 7:155803625-155803625

 livercarcinomaSubstitution - Missense

c.533A>G; p.K178R; 7:155806325-155806325

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.4_20del17; p.L2fs*56; 7:155812103-155812119

 stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.487C>A; p.R163S; 7:155806371-155806371

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.367C>T; p.R123W; 7:155806491-155806491

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.98G>A; p.R33K; 7:155812025-155812025

 livercarcinomaSubstitution - Missense

c.52G>A; p.V18I; 7:155812071-155812071

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 7:155806427-155806427

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 7:155806427-155806427

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1272G>A; p.P424P; 7:155803017-155803017

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.687C>T; p.D229D; 7:155803602-155803602

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.223G>A; p.E75K; 7:155811900-155811900

 skinmalignant_melanomaSubstitution - Missense

c.526G>A; p.E176K; 7:155806332-155806332

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.526G>A; p.E176K; 7:155806332-155806332

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.471G>A; p.K157K; 7:155806387-155806387

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.413C>G; p.S138C; 7:155806445-155806445

 livercarcinomaSubstitution - Missense

c.413C>G; p.S138C; 7:155806445-155806445

 livercarcinomaSubstitution - Missense

c.1367G>A; p.G456D; 7:155802922-155802922

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.460G>A; p.D154N; 7:155806398-155806398

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.S151F; 7:155806406-155806406

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.879G>A; p.P293P; 7:155803410-155803410

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.452C>T; p.S151F; 7:155806406-155806406

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.730C>T; p.R244C; 7:155803559-155803559

 skinmalignant_melanomaSubstitution - Missense

c.317T>C; p.L106S; 7:155806541-155806541

 stomachadenocarcinomaSubstitution - Missense

c.788G>A; p.R263H; 7:155803501-155803501

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1102G>A; p.E368K; 7:155803187-155803187

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.140T>G; p.F47C; 7:155811983-155811983

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.695G>A; p.R232Q; 7:155803594-155803594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.57C>T; p.C19C; 7:155812066-155812066

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.449C>T; p.T150M; 7:155806409-155806409

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.442A>C; p.I148L; 7:155806416-155806416

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.84G>A; p.R28R; 7:155812039-155812039

 skinmalignant_melanomaSubstitution - coding silent

c.85G>A; p.G29R; 7:155812038-155812038

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.846C>T; p.T282T; 7:155803443-155803443

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.98G>C; p.R33T; 7:155812025-155812025

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.772C>T; p.R258W; 7:155803517-155803517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.548G>A; p.C183Y; 7:155806310-155806310

 central_nervous_system; braingliomaSubstitution - Missense

c.1312C>A; p.L438M; 7:155802977-155802977

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.397C>T; p.H133Y; 7:155806461-155806461

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.458G>A; p.R153H; 7:155806400-155806400

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.171C>T; p.G57G; 7:155811952-155811952

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1296_1297CC>TT; p.H433Y; 7:155802992-155802993

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.159G>A; p.E53E; 7:155811964-155811964

 skinmalignant_melanomaSubstitution - coding silent

c.674T>C; p.L225P; 7:155803615-155803615

 thyroidother; neoplasmSubstitution - Missense

c.667C>T; p.R223C; 7:155803622-155803622

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.503C>T; p.A168V; 7:155806355-155806355

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.88T>G; p.F30V; 7:155812035-155812035

 eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.171C>A; p.G57G; 7:155811952-155811952

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1249G>A; p.A417T; 7:155803040-155803040

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1307C>T; p.S436L; 7:155802982-155802982

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.686A>T; p.D229V; 7:155803603-155803603

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.218T>G; p.F73C; 7:155811905-155811905

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.R153C; 7:155806401-155806401

 breastcarcinomaSubstitution - Missense

c.732C>T; p.R244R; 7:155803557-155803557

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.227T>C; p.L76P; 7:155811896-155811896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1093G>A; p.A365T; 7:155803196-155803196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.737A>G; p.D246G; 7:155803552-155803552

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.511G>A; p.D171N; 7:155806347-155806347

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.511G>A; p.D171N; 7:155806347-155806347

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.555G>A; p.V185V; 7:155806303-155806303

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.270A>C; p.E90D; 7:155811853-155811853

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.309G>T; p.K103N; 7:155806549-155806549

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.A187T; 7:155806299-155806299

 skinmalignant_melanomaSubstitution - Missense

c.994G>A; p.V332M; 7:155803295-155803295

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.683A>G; p.D228G; 7:155803606-155803606

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

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