Cancer metastasis database

Annotation category 5

Gene information

Gene ID 1874
Symbol

E2F4

Synonymous

E2F-4

Full name

E2F transcription factor 4, p107/p130-binding

Gene description

p107/p130-binding protein|transcription factor E2F4

Cytoband

16q22.1

Gene type

protein-coding

Synonymous

MIM:600659; HGNC:HGNC:3118; Ensembl:ENSG00000205250; HPRD:02806; Vega:OTTHUMG00000172975

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1065C>A; p.I355I; 16:67197630-67197630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1065C>A; p.I355I; 16:67197630-67197630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.757C>T; p.P253S; 16:67194929-67194929

 skinmalignant_melanomaSubstitution - Missense

c.944G>C; p.S315T; 16:67195917-67195917

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.682C>G; p.L228V; 16:67194854-67194854

 breastcarcinomaSubstitution - Missense

c.268A>G; p.T90A; 16:67193031-67193031

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.313G>A; p.E105K; 16:67193076-67193076

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.947G>A; p.S316N; 16:67195920-67195920

 pancreascarcinomaSubstitution - Missense

c.945C>T; p.S315S; 16:67195918-67195918

 pancreascarcinomaSubstitution - coding silent

c.990C>T; p.N330N; 16:67195963-67195963

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.87C>T; p.F29F; 16:67192314-67192314

 skinmalignant_melanomaSubstitution - coding silent

c.345C>T; p.D115D; 16:67193108-67193108

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.989A>C; p.N330T; 16:67195962-67195962

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.956G>A; p.S319N; 16:67195929-67195929

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.941G>A; p.S314N; 16:67195914-67195914

 pancreascarcinomaSubstitution - Missense

c.178G>A; p.D60N; 16:67192803-67192803

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.92C>T; p.S31F; 16:67192319-67192319

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.269C>A; p.T90N; 16:67193032-67193032

 livercarcinomaSubstitution - Missense

c.454G>A; p.D152N; 16:67194400-67194400

 breastcarcinomaSubstitution - Missense

c.965A>G; p.N322S; 16:67195938-67195938

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.475G>T; p.A159S; 16:67194421-67194421

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.736C>T; p.Q246*; 16:67194908-67194908

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.736C>T; p.Q246*; 16:67194908-67194908

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.917_918insCAG; p.S319_N320insS; 16:67195890-67195891

 breastcarcinomaInsertion - In frame

c.1144C>T; p.R382C; 16:67198025-67198025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.953G>A; p.S318N; 16:67195926-67195926

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.953G>A; p.S318N; 16:67195926-67195926

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.59A>C; p.K20T; 16:67192286-67192286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.577C>G; p.L193V; 16:67194749-67194749

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1147C>G; p.L383V; 16:67198028-67198028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1051G>C; p.E351Q; 16:67197616-67197616

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.567C>T; p.P189P; 16:67194739-67194739

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.160C>T; p.Q54*; 16:67192785-67192785

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.571G>T; p.E191*; 16:67194743-67194743

 breastcarcinomaSubstitution - Nonsense

c.957_959delCAA; p.N320delN; 16:67195930-67195932

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.363G>A; p.V121V; 16:67193126-67193126

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1095G>A; p.S365S; 16:67197880-67197880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.791C>T; p.P264L; 16:67194963-67194963

 skinmalignant_melanomaSubstitution - Missense

c.655C>T; p.P219S; 16:67194827-67194827

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1221T>A; p.D407E; 16:67198102-67198102

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.918_920delCAG; p.S319delS; 16:67195891-67195893

 breastcarcinomaDeletion - In frame

c.918_920delCAG; p.S319delS; 16:67195891-67195893

 breastcarcinomaDeletion - In frame

c.918_920delCAG; p.S319delS; 16:67195891-67195893

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.918_920delCAG; p.S319delS; 16:67195891-67195893

 breastcarcinomaDeletion - In frame

c.918_920delCAG; p.S319delS; 16:67195891-67195893

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.294T>G; p.I98M; 16:67193057-67193057

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.393C>T; p.D131D; 16:67193156-67193156

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.281C>G; p.A94G; 16:67193044-67193044

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.289C>T; p.L97L; 16:67193052-67193052

 livercarcinomaSubstitution - coding silent

c.1191C>T; p.D397D; 16:67198072-67198072

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.511G>T; p.E171*; 16:67194457-67194457

 breastcarcinomaSubstitution - Nonsense

c.959_960insGCA; p.N320>KH; 16:67195932-67195933

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; mantle_cell_lymphomaComplex - insertion inframe