Cancer metastasis database

Annotation category 5

Gene information

Gene ID 348
Symbol

APOE

Synonymous

AD2|APO-E|LDLCQ5|LPG

Full name

apolipoprotein E

Gene description

apolipoprotein E3

Cytoband

19q13.2

Gene type

protein-coding

Synonymous

MIM:107741; HGNC:HGNC:613; Ensembl:ENSG00000130203; HPRD:00135; Vega:OTTHUMG00000128901

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.444C>T; p.T148T; 19:44908740-44908740

 pancreascarcinomaSubstitution - coding silent

c.313G>A; p.E105K; 19:44908609-44908609

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.440G>A; p.S147N; 19:44908736-44908736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.833G>T; p.R278L; 19:44909129-44909129

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.237-8G>A; p.?; 19:44908525-44908525

 prostatecarcinomaUnknown

c.425C>T; p.A142V; 19:44908721-44908721

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4A>G; p.K2E; 19:44906628-44906628

 livercarcinomaSubstitution - Missense

c.327A>C; p.A109A; 19:44908623-44908623

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.312delG; p.E105fs*146; 19:44908608-44908608

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.351G>A; p.A117A; 19:44908647-44908647

 central_nervous_system; braingliomaSubstitution - coding silent

c.25C>A; p.L9M; 19:44906649-44906649

 livercarcinomaSubstitution - Missense

c.231A>G; p.E77E; 19:44907947-44907947

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.753G>T; p.K251N; 19:44909049-44909049

 livercarcinomaSubstitution - Missense

c.753G>T; p.K251N; 19:44909049-44909049

 livercarcinomaSubstitution - Missense

c.764C>T; p.A255V; 19:44909060-44909060

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.348G>T; p.Q116H; 19:44908644-44908644

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.550G>A; p.A184T; 19:44908846-44908846

 pancreascarcinomaSubstitution - Missense

c.780G>A; p.K260K; 19:44909076-44909076

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.90C>G; p.P30P; 19:44907806-44907806

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.570C>T; p.R190R; 19:44908866-44908866

 pancreascarcinomaSubstitution - coding silent

c.124C>T; p.Q42*; 19:44907840-44907840

 skinmalignant_melanomaSubstitution - Nonsense

c.166C>T; p.R56C; 19:44907882-44907882

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.166C>T; p.R56C; 19:44907882-44907882

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.139G>A; p.A47T; 19:44907855-44907855

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.128G>T; p.R43L; 19:44907844-44907844

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.773G>A; p.R258H; 19:44909069-44909069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.30_31delCA; p.T11fs*52; 19:44906654-44906655

 biliary_tract; bile_ductcarcinoma; adenocarcinomaDeletion - Frameshift

c.911_912CC>AA; p.A304E; 19:44909207-44909208

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.388T>C; p.C130R; 19:44908684-44908684

 large_intestineadenomaSubstitution - Missense

c.388T>C; p.C130R; 19:44908684-44908684

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.874C>T; p.R292C; 19:44909170-44909170

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.116A>G; p.Q39R; 19:44907832-44907832

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.814G>T; p.A272S; 19:44909110-44909110

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.886G>T; p.G296W; 19:44909182-44909182

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.885C>T; p.A295A; 19:44909181-44909181

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent