Cancer metastasis database

Annotation category 5

Gene information

Gene ID 1493
Symbol

CTLA4

Synonymous

ALPS5|CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|IDDM12

Full name

cytotoxic T-lymphocyte-associated protein 4

Gene description

CD152 isoform|celiac disease 3|cytotoxic T lymphocyte associated antigen 4 short spliced form|cytotoxic T-lymphocyte protein 4|cytotoxic T-lymphocyte-associated serine esterase-4|insulin-dependent diabetes mellitus 12|ligand and transmembrane spliced cyto

Cytoband

2q33

Gene type

protein-coding

Synonymous

MIM:123890; HGNC:HGNC:2505; Ensembl:ENSG00000163599; HPRD:00474; Vega:OTTHUMG00000132877

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.159C>T; p.I53I; 2:203870635-203870635

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.159C>T; p.I53I; 2:203870635-203870635

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.185C>G; p.S62C; 2:203870661-203870661

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.515C>T; p.S172L; 2:203871435-203871435

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.273G>A; p.M91I; 2:203870749-203870749

 skinmalignant_melanomaSubstitution - Missense

c.376C>A; p.L126I; 2:203870852-203870852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313G>A; p.G105S; 2:203870789-203870789

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.292C>T; p.L98L; 2:203870768-203870768

 skinmalignant_melanomaSubstitution - coding silent

c.259G>A; p.A87T; 2:203870735-203870735

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.272T>C; p.M91T; 2:203870748-203870748

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.320C>A; p.S107Y; 2:203870796-203870796

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.522_523insT; p.Y177fs*2; 2:203871442-203871443

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.522_523insT; p.Y177fs*2; 2:203871442-203871443

 skin; mucosalmalignant_melanomaInsertion - Frameshift

c.522_523insT; p.Y177fs*2; 2:203871442-203871443

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.523delT; p.Y177fs*10; 2:203871443-203871443

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.523delT; p.Y177fs*10; 2:203871443-203871443

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.523delT; p.Y177fs*10; 2:203871443-203871443

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.360G>A; p.R120R; 2:203870836-203870836

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.331C>G; p.Q111E; 2:203870807-203870807

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.87C>G; p.L29L; 2:203868029-203868029

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.87C>G; p.L29L; 2:203868029-203868029

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.22C>T; p.R8W; 2:203867964-203867964

 central_nervous_system; braingliomaSubstitution - Missense

c.168T>A; p.F56L; 2:203870644-203870644

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.G109R; 2:203870801-203870801

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325G>A; p.G109R; 2:203870801-203870801

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.390G>T; p.K130N; 2:203870866-203870866

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.49A>G; p.T17A; 2:203867991-203867991

 skinmalignant_melanomaSubstitution - Missense

c.49A>G; p.T17A; 2:203867991-203867991

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.640C>T; p.Q214*; 2:203872780-203872780

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.405C>T; p.Y135Y; 2:203870881-203870881

 skinmalignant_melanomaSubstitution - coding silent

c.573G>T; p.K191N; 2:203872713-203872713

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.104G>A; p.C35Y; 2:203868046-203868046

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.639G>T; p.K213N; 2:203872779-203872779

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.75_76insT; p.L28fs*32; 2:203868017-203868018

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.411G>A; p.P137P; 2:203870887-203870887

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.305T>C; p.I102T; 2:203870781-203870781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472C>T; p.P158S; 2:203871392-203871392

 skin; trunkmalignant_melanomaSubstitution - Missense

c.422T>C; p.L141P; 2:203870898-203870898

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.131C>T; p.A44V; 2:203870607-203870607

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.489C>T; p.L163L; 2:203871409-203871409

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.516G>A; p.S172S; 2:203871436-203871436

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.258G>A; p.A86A; 2:203870734-203870734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.61C>T; p.P21S; 2:203868003-203868003

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.671G>T; p.*224L; 2:203872811-203872811

 lungcarcinoma; squamous_cell_carcinomaNonstop extension

c.302C>T; p.S101F; 2:203870778-203870778

 pancreascarcinomaSubstitution - Missense

c.523T>G; p.F175V; 2:203871443-203871443

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.567+1G>C; p.?; 2:203871488-203871488

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.586C>G; p.L196V; 2:203872726-203872726

 breastcarcinomaSubstitution - Missense

c.197C>A; p.A66D; 2:203870673-203870673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.465A>G; p.E155E; 2:203871385-203871385

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.495G>A; p.W165*; 2:203871415-203871415

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.595G>A; p.G199R; 2:203872735-203872735

 skinmalignant_melanomaSubstitution - Missense

c.161C>T; p.A54V; 2:203870637-203870637

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.503C>A; p.A168E; 2:203871423-203871423

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.205G>T; p.V69F; 2:203870681-203870681

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.45G>T; p.L15L; 2:203867987-203867987

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent