Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

1870

Name

E2F2

Synonymous

E2F transcription factor 2;E2F2;E2F transcription factor 2

Definition

transcription factor E2F2

Position

1p36

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

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We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.13.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.523G>A; p.V175M; 1:23521892-23521892

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.524T>C; p.V175A; 1:23521891-23521891

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98G>A; p.S33N; 1:23530696-23530696

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1121T>A; p.L374Q; 1:23510073-23510073

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1006A>T; p.S336C; 1:23516374-23516374

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1105G>A; p.E369K; 1:23510089-23510089

 skinmalignant_melanomaSubstitution - Missense

c.824C>T; p.T275M; 1:23519044-23519044

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1152G>T; p.Q384H; 1:23510042-23510042

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.453G>A; p.G151G; 1:23521962-23521962

 livercarcinomaSubstitution - coding silent

c.453G>A; p.G151G; 1:23521962-23521962

 livercarcinomaSubstitution - coding silent

c.1078C>T; p.P360S; 1:23510116-23510116

 skinmalignant_melanomaSubstitution - Missense

c.307C>T; p.P103S; 1:23524434-23524434

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.501G>A; p.R167R; 1:23521914-23521914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1215A>G; p.P405P; 1:23509979-23509979

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1083G>A; p.P361P; 1:23510111-23510111

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1083G>A; p.P361P; 1:23510111-23510111

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1083G>A; p.P361P; 1:23510111-23510111

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.502C>T; p.R168C; 1:23521913-23521913

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1239G>T; p.L413L; 1:23509955-23509955

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.475G>A; p.A159T; 1:23521940-23521940

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.835G>A; p.V279M; 1:23519033-23519033

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.565A>G; p.N189D; 1:23521850-23521850

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.106_107insC; p.Q36fs*66; 1:23530687-23530688

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1058C>T; p.A353V; 1:23510136-23510136

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.678G>T; p.Q226H; 1:23520972-23520972

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1270G>A; p.D424N; 1:23509924-23509924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.678G>T; p.Q226H; 1:23520972-23520972

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.358+1G>T; p.?; 1:23524382-23524382

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaUnknown

c.1156G>A; p.E386K; 1:23510038-23510038

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.366A>C; p.K122N; 1:23522049-23522049

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.615G>A; p.G205G; 1:23521035-23521035

 breastcarcinomaSubstitution - coding silent

c.191A>G; p.D64G; 1:23530603-23530603

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IVSubstitution - Missense

c.294C>T; p.V98V; 1:23524447-23524447

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.233_240delTGCCGGCA; p.L78fs*21; 1:23530554-23530561

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.659C>T; p.T220M; 1:23520991-23520991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.904C>T; p.L302L; 1:23516476-23516476

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.814C>T; p.P272S; 1:23519054-23519054

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.525G>T; p.V175V; 1:23521890-23521890

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.772G>T; p.V258F; 1:23519096-23519096

 kidneyother; neoplasmSubstitution - Missense

c.570C>G; p.I190M; 1:23521845-23521845

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1106A>G; p.E369G; 1:23510088-23510088

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.938C>A; p.P313H; 1:23516442-23516442

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.669C>T; p.A223A; 1:23520981-23520981

 skinmalignant_melanomaSubstitution - coding silent

c.359C>T; p.T120I; 1:23522056-23522056

 skinmalignant_melanomaSubstitution - Missense

c.346C>T; p.P116S; 1:23524395-23524395

 skinmalignant_melanomaSubstitution - Missense

c.1287C>T; p.Y429Y; 1:23509907-23509907

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1287C>T; p.Y429Y; 1:23509907-23509907

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.808A>G; p.K270E; 1:23519060-23519060

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1238T>C; p.L413P; 1:23509956-23509956

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1238T>C; p.L413P; 1:23509956-23509956

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.938C>T; p.P313L; 1:23516442-23516442

 skinmalignant_melanomaSubstitution - Missense

c.503G>A; p.R168H; 1:23521912-23521912

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.503G>A; p.R168H; 1:23521912-23521912

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.503G>A; p.R168H; 1:23521912-23521912

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1278C>A; p.F426L; 1:23509916-23509916

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1278C>A; p.F426L; 1:23509916-23509916

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1237C>T; p.L413L; 1:23509957-23509957

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.959C>T; p.S320F; 1:23516421-23516421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.676C>T; p.Q226*; 1:23520974-23520974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.952C>T; p.L318F; 1:23516428-23516428

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.757C>T; p.Q253*; 1:23519111-23519111

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1104G>A; p.L368L; 1:23510090-23510090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.63G>T; p.A21A; 1:23530731-23530731

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.815C>A; p.P272H; 1:23519053-23519053

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1082C>T; p.P361L; 1:23510112-23510112

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1116C>T; p.D372D; 1:23510078-23510078

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.726G>T; p.K242N; 1:23520924-23520924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.314C>A; p.P105H; 1:23524427-23524427

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.314C>A; p.P105H; 1:23524427-23524427

 large_intestine; coloncarcinomaSubstitution - Missense

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