Cancer metastasis database

Annotation category 5

Gene information

Gene ID 6097
Symbol

RORC

Synonymous

NR1F3|RORG|RZR-GAMMA|RZRG|TOR

Full name

RAR-related orphan receptor C

Gene description

RAR-related orphan nuclear receptor variant 2|nuclear receptor ROR-gamma|nuclear receptor RZR-gamma|nuclear receptor subfamily 1 group F member 3|retinoic acid-binding receptor gamma|retinoid-related orphan receptor gamma

Cytoband

1q21

Gene type

protein-coding

Synonymous

MIM:602943; HGNC:HGNC:10260; Ensembl:ENSG00000143365; HPRD:04250; Vega:OTTHUMG00000013053

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1455C>T; p.I485I; 1:151807574-151807574

skinmalignant_melanomaSubstitution - coding silent

c.963C>A; p.A321A; 1:151813591-151813591

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1106A>G; p.Y369C; 1:151813307-151813307

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.807G>T; p.E269D; 1:151814917-151814917

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.516T>C; p.C172C; 1:151815208-151815208

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.291_292CC>TT; p.R98*; 1:151816670-151816671

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.590G>A; p.G197E; 1:151815134-151815134

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1488C>A; p.A496A; 1:151807541-151807541

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1002C>T; p.F334F; 1:151813552-151813552

skinmalignant_melanomaSubstitution - coding silent

c.1241A>T; p.E414V; 1:151812991-151812991

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.130G>A; p.G44R; 1:151817221-151817221

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.754G>T; p.G252C; 1:151814970-151814970

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.700G>A; p.E234K; 1:151815024-151815024

skinmalignant_melanomaSubstitution - Missense

c.666C>T; p.S222S; 1:151815058-151815058

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1120C>T; p.R374C; 1:151813293-151813293

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1120C>T; p.R374C; 1:151813293-151813293

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1211C>T; p.S404F; 1:151813021-151813021

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1211C>T; p.S404F; 1:151813021-151813021

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1504T>A; p.Y502N; 1:151807525-151807525

livercarcinomaSubstitution - Missense

c.1288C>T; p.R430W; 1:151811432-151811432

kidneyother; neoplasmSubstitution - Missense

c.40G>A; p.E14K; 1:151831725-151831725

breastcarcinomaSubstitution - Missense

c.292C>T; p.R98*; 1:151816670-151816670

pancreascarcinomaSubstitution - Nonsense

c.1008G>A; p.K336K; 1:151813546-151813546

livercarcinomaSubstitution - coding silent

c.1010G>A; p.R337K; 1:151813544-151813544

skinmalignant_melanomaSubstitution - Missense

c.518C>T; p.P173L; 1:151815206-151815206

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.310G>A; p.G104S; 1:151815414-151815414

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.310G>A; p.G104S; 1:151815414-151815414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1130T>A; p.F377Y; 1:151813283-151813283

skinmalignant_melanomaSubstitution - Missense

c.1285C>T; p.H429Y; 1:151812947-151812947

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.725G>T; p.G242V; 1:151814999-151814999

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.625G>A; p.G209S; 1:151815099-151815099

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.465C>T; p.D155D; 1:151815259-151815259

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.465C>T; p.D155D; 1:151815259-151815259

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.465C>T; p.D155D; 1:151815259-151815259

pancreascarcinomaSubstitution - coding silent

c.461C>T; p.P154L; 1:151815263-151815263

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.114G>A; p.S38S; 1:151817237-151817237

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1146C>T; p.Y382Y; 1:151813267-151813267

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1203T>A; p.F401L; 1:151813029-151813029

skinmalignant_melanomaSubstitution - Missense

c.1146C>T; p.Y382Y; 1:151813267-151813267

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.551C>T; p.P184L; 1:151815173-151815173

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.794C>T; p.A265V; 1:151814930-151814930

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1481T>C; p.V494A; 1:151807548-151807548

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1200C>A; p.I400I; 1:151813032-151813032

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.488C>T; p.S163L; 1:151815236-151815236

skinmalignant_melanomaSubstitution - Missense

c.278C>A; p.A93E; 1:151816684-151816684

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.35C>T; p.S12L; 1:151831730-151831730

skinmalignant_melanomaSubstitution - Missense

c.1476C>T; p.I492I; 1:151807553-151807553

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.278C>A; p.A93E; 1:151816684-151816684

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.661G>A; p.G221S; 1:151815063-151815063

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.1162T>C; p.F388L; 1:151813251-151813251

skinmalignant_melanomaSubstitution - Missense

c.624G>A; p.R208R; 1:151815100-151815100

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1148G>A; p.G383D; 1:151813265-151813265

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1034G>A; p.C345Y; 1:151813520-151813520

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1318G>A; p.E440K; 1:151811402-151811402

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1155G>A; p.M385I; 1:151813258-151813258

skinmalignant_melanomaSubstitution - Missense

c.531G>A; p.L177L; 1:151815193-151815193

breastcarcinomaSubstitution - coding silent

c.502G>A; p.E168K; 1:151815222-151815222

breastcarcinomaSubstitution - Missense

c.1488C>T; p.A496A; 1:151807541-151807541

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1532A>T; p.E511V; 1:151807497-151807497

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.501T>A; p.P167P; 1:151815223-151815223

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.263T>C; p.L88P; 1:151816699-151816699

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.29G>A; p.R10Q; 1:151831736-151831736

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.695G>A; p.R232H; 1:151815029-151815029

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.999G>A; p.E333E; 1:151813555-151813555

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.942G>A; p.W314*; 1:151813612-151813612

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1067-2A>G; p.?; 1:151813348-151813348

ovaryother; neoplasmUnknown

c.1169C>T; p.A390V; 1:151813244-151813244

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1480G>T; p.V494F; 1:151807549-151807549

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1114G>A; p.D372N; 1:151813299-151813299

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1262C>T; p.T421I; 1:151812970-151812970

livercarcinomaSubstitution - Missense

c.1262C>T; p.T421I; 1:151812970-151812970

livercarcinomaSubstitution - Missense

c.1178G>A; p.C393Y; 1:151813054-151813054

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1482C>T; p.V494V; 1:151807547-151807547

skinmalignant_melanomaSubstitution - coding silent

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256T>A; p.L419H; 1:151812976-151812976

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1183G>A; p.E395K; 1:151813049-151813049

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1530C>T; p.T510T; 1:151807499-151807499

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasmSubstitution - coding silent

c.1530C>T; p.T510T; 1:151807499-151807499

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - coding silent

c.863G>A; p.R288Q; 1:151814644-151814644

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.223_224insA; p.I75fs*91; 1:151816738-151816739

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1288C>A; p.R430R; 1:151811432-151811432

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.105G>A; p.G35G; 1:151817246-151817246

skinmalignant_melanomaSubstitution - coding silent

c.651C>A; p.F217L; 1:151815073-151815073

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.655A>G; p.S219G; 1:151815069-151815069

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1275C>T; p.L425L; 1:151812957-151812957

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1275C>T; p.L425L; 1:151812957-151812957

skinmalignant_melanomaSubstitution - coding silent

c.48G>T; p.L16L; 1:151829451-151829451

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.428G>A; p.G143E; 1:151815296-151815296

skinmalignant_melanomaSubstitution - Missense

c.829G>A; p.V277I; 1:151814678-151814678

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.423C>T; p.A141A; 1:151815301-151815301

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1193G>A; p.S398N; 1:151813039-151813039

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.683G>A; p.R228Q; 1:151815041-151815041

skinmalignant_melanomaSubstitution - Missense

c.683G>A; p.R228Q; 1:151815041-151815041

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.683G>A; p.R228Q; 1:151815041-151815041

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.683G>A; p.R228Q; 1:151815041-151815041

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1266C>T; p.A422A; 1:151812966-151812966

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.39G>A; p.R13R; 1:151831726-151831726

skinmalignant_melanomaSubstitution - coding silent

c.636G>A; p.E212E; 1:151815088-151815088

skinmalignant_melanomaSubstitution - coding silent

c.1477G>A; p.V493M; 1:151807552-151807552

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.13_14CC>TT; p.P5L; 1:151831751-151831752

skin; scalpmalignant_melanomaSubstitution - Missense

c.1124C>T; p.T375M; 1:151813289-151813289

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.980C>A; p.A327D; 1:151813574-151813574

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.129C>T; p.Y43Y; 1:151817222-151817222

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.504G>T; p.E168D; 1:151815220-151815220

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.112T>C; p.S38P; 1:151817239-151817239

autonomic_ganglianeuroblastomaSubstitution - Missense

c.979G>T; p.A327S; 1:151813575-151813575

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.157G>A; p.G53S; 1:151816805-151816805

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1531G>T; p.E511*; 1:151807498-151807498

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.557A>T; p.Y186F; 1:151815167-151815167

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1099C>T; p.R367W; 1:151813314-151813314

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.755G>A; p.G252D; 1:151814969-151814969

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1099C>T; p.R367W; 1:151813314-151813314

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1045C>A; p.Q349K; 1:151813509-151813509

autonomic_ganglianeuroblastomaSubstitution - Missense

c.372G>C; p.Q124H; 1:151815352-151815352

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.149_150GG>AA; p.G50E; 1:151817201-151817202

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1246G>A; p.E416K; 1:151812986-151812986

urinary_tract; bladdercarcinomaSubstitution - Missense

c.779C>T; p.P260L; 1:151814945-151814945

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.828C>T; p.S276S; 1:151814679-151814679

pancreascarcinomaSubstitution - coding silent

c.617C>A; p.P206H; 1:151815107-151815107

large_intestine; coloncarcinomaSubstitution - Missense

c.617C>A; p.P206H; 1:151815107-151815107

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.779C>T; p.P260L; 1:151814945-151814945

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1032C>G; p.L344L; 1:151813522-151813522

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1032C>G; p.L344L; 1:151813522-151813522

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.933G>A; p.K311K; 1:151814574-151814574

skinmalignant_melanomaSubstitution - coding silent

c.229C>T; p.R77C; 1:151816733-151816733

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.170G>A; p.R57Q; 1:151816792-151816792

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.902C>T; p.S301F; 1:151814605-151814605

pancreascarcinomaSubstitution - Missense

c.170G>A; p.R57Q; 1:151816792-151816792

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.902C>T; p.S301F; 1:151814605-151814605

pancreascarcinomaSubstitution - Missense

c.4G>A; p.D2N; 1:151831761-151831761

skinmalignant_melanomaSubstitution - Missense

c.166C>T; p.R56C; 1:151816796-151816796

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.41-1G>A; p.?; 1:151829459-151829459

urinary_tract; bladdercarcinomaUnknown

c.1049T>G; p.I350S; 1:151813505-151813505

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.433G>C; p.D145H; 1:151815291-151815291

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1336C>A; p.L446M; 1:151811384-151811384

autonomic_ganglianeuroblastomaSubstitution - Missense

c.847G>A; p.E283K; 1:151814660-151814660

breastcarcinomaSubstitution - Missense