Cancer metastasis database

Annotation category 5

Gene information

Gene ID 81567
Symbol

TXNDC5

Synonymous

ENDOPDI|ERP46|HCC-2|PDIA15|STRF8|UNQ364

Full name

thioredoxin domain containing 5 (endoplasmic reticulum)

Gene description

ER protein 46|endoplasmic reticulum protein ERp46|endoplasmic reticulum resident protein 46|endothelial protein disulphide isomerase|protein disulfide isomerase family A, member 15|thioredoxin domain-containing protein 5|thioredoxin related protein|thiore

Cytoband

6p24.3

Gene type

protein-coding

Synonymous

HGNC:HGNC:21073; Ensembl:ENSG00000239264; Ensembl:ENSG00000259040; HPRD:18249; Vega:OTTHUMG00000014216

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.593A>G; p.N198S; 6:7895129-7895129

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.593A>G; p.N198S; 6:7895129-7895129

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.902C>A; p.A301E; 6:7888766-7888766

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1190C>T; p.P397L; 6:7883253-7883253

breastcarcinomaSubstitution - Missense

c.828G>C; p.Q276H; 6:7888840-7888840

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1035T>G; p.F345L; 6:7885972-7885972

breastcarcinomaSubstitution - Missense

c.264-1G>T; p.?; 6:7904724-7904724

lungcarcinoma; non_small_cell_carcinomaUnknown

c.365C>T; p.T122M; 6:7904622-7904622

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.365C>T; p.T122M; 6:7904622-7904622

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1103T>C; p.F368S; 6:7884432-7884432

large_intestine; coloncarcinomaSubstitution - Missense

c.1103T>C; p.F368S; 6:7884432-7884432

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1004C>T; p.T335I; 6:7886003-7886003

skinmalignant_melanomaSubstitution - Missense

c.778C>T; p.R260C; 6:7889536-7889536

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.289C>T; p.P97S; 6:7904698-7904698

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1175C>T; p.S392L; 6:7884360-7884360

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1175C>T; p.S392L; 6:7884360-7884360

skin; extremitymalignant_melanomaSubstitution - Missense

c.541_542CC>AT; p.P181>?; 6:7895180-7895181

skin; extremitymalignant_melanomaComplex

c.291G>A; p.P97P; 6:7904696-7904696

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.897T>G; p.T299T; 6:7888771-7888771

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1114G>A; p.A372T; 6:7884421-7884421

skinmalignant_melanomaSubstitution - Missense

c.1066C>G; p.L356V; 6:7884469-7884469

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.862G>T; p.E288*; 6:7888806-7888806

prostatecarcinomaSubstitution - Nonsense

c.1176G>A; p.S392S; 6:7884359-7884359

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1211G>A; p.G404E; 6:7883232-7883232

skinmalignant_melanomaSubstitution - Missense

c.426C>T; p.F142F; 6:7899669-7899669

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1207C>A; p.R403R; 6:7883236-7883236

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.926A>G; p.E309G; 6:7888742-7888742

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.926A>G; p.E309G; 6:7888742-7888742

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.507C>G; p.N169K; 6:7899588-7899588

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.917C>T; p.T306M; 6:7888751-7888751

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.320A>G; p.N107S; 6:7904667-7904667

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.754G>C; p.E252Q; 6:7889560-7889560

breastcarcinomaSubstitution - Missense

c.759C>T; p.L253L; 6:7889555-7889555

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.645G>A; p.P215P; 6:7891708-7891708

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.265T>C; p.C89R; 6:7904722-7904722

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.887G>A; p.R296H; 6:7888781-7888781

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315A>C; p.K105N; 6:7904672-7904672

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.430C>T; p.P144S; 6:7899665-7899665

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1207C>T; p.R403*; 6:7883236-7883236

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1207C>T; p.R403*; 6:7883236-7883236

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1207C>T; p.R403*; 6:7883236-7883236

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.805C>T; p.R269*; 6:7889509-7889509

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1177G>A; p.V393I; 6:7883266-7883266

urinary_tract; bladdercarcinomaSubstitution - Missense

c.550G>A; p.A184T; 6:7895172-7895172

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.296G>A; p.W99*; 6:7904691-7904691

kidneyother; neoplasmSubstitution - Nonsense

c.550G>A; p.A184T; 6:7895172-7895172

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.271C>T; p.H91Y; 6:7904716-7904716

urinary_tract; bladdercarcinomaSubstitution - Missense

c.550G>A; p.A184T; 6:7895172-7895172

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.931C>T; p.P311S; 6:7888737-7888737

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.302A>G; p.D101G; 6:7904685-7904685

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.644C>T; p.P215L; 6:7891709-7891709

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.644C>T; p.P215L; 6:7891709-7891709

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.514C>T; p.P172S; 6:7899581-7899581

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1181G>A; p.R394Q; 6:7883262-7883262

pancreascarcinomaSubstitution - Missense

c.920C>T; p.P307L; 6:7888748-7888748

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.619G>A; p.D207N; 6:7891734-7891734

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.819+5G>A; p.?; 6:7889490-7889490

pancreascarcinomaUnknown

c.325A>G; p.M109V; 6:7904662-7904662

livercarcinomaSubstitution - Missense

c.291G>T; p.P97P; 6:7904696-7904696

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.640G>A; p.A214T; 6:7891713-7891713

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.325A>G; p.M109V; 6:7904662-7904662

livercarcinomaSubstitution - Missense

c.996C>T; p.F332F; 6:7886011-7886011

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.516A>G; p.P172P; 6:7899579-7899579

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.650G>A; p.C217Y; 6:7891703-7891703

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.842G>A; p.R281Q; 6:7888826-7888826

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.842G>A; p.R281Q; 6:7888826-7888826

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1291G>A; p.E431K; 6:7883152-7883152

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1291G>A; p.E431K; 6:7883152-7883152

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.890C>T; p.T297I; 6:7888778-7888778

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.543G>A; p.P181P; 6:7895179-7895179

breastcarcinomaSubstitution - coding silent

c.1208G>A; p.R403Q; 6:7883235-7883235

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1208G>A; p.R403Q; 6:7883235-7883235

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.720C>T; p.V240V; 6:7891633-7891633

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.348G>T; p.V116V; 6:7904639-7904639

breastcarcinomaSubstitution - coding silent