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

Basic Information

Gene ID

1869

Name

E2F1

Synonymous

E2F transcription factor 1;E2F1;E2F transcription factor 1

Definition

PBR3|PRB-binding protein E2F-1|RBAP-1|RBBP-3|retinoblastoma-associated protein 1|retinoblastoma-binding protein 3|transcription factor E2F1

Position

20q11.2

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.08.

The copy number variations for various cancers

Top

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.837G>A; p.S279S; 20:33677429-33677429

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1048C>G; p.L350V; 20:33677123-33677123

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.412C>T; p.R138C; 20:33679915-33679915

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.292C>T; p.H98Y; 20:33680386-33680386

 skinmalignant_melanomaSubstitution - Missense

c.493C>T; p.R165W; 20:33679834-33679834

 breastcarcinomaSubstitution - Missense

c.1254C>T; p.G418G; 20:33676792-33676792

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1254C>T; p.G418G; 20:33676792-33676792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1131G>A; p.L377L; 20:33676915-33676915

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.884T>A; p.V295D; 20:33677287-33677287

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1311C>G; p.F437L; 20:33676735-33676735

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.307G>T; p.E103*; 20:33680371-33680371

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.326G>A; p.R109Q; 20:33680352-33680352

 pancreascarcinomaSubstitution - Missense

c.754C>T; p.R252C; 20:33677512-33677512

 breastcarcinomaSubstitution - Missense

c.754C>T; p.R252C; 20:33677512-33677512

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1097G>A; p.R366Q; 20:33676949-33676949

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.819_820CC>TT; p.Q274*; 20:33677446-33677447

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.442G>A; p.D148N; 20:33679885-33679885

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.695G>A; p.R232H; 20:33678231-33678231

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1257G>T; p.E419D; 20:33676789-33676789

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.565C>T; p.Q189*; 20:33679762-33679762

 skinmalignant_melanomaSubstitution - Nonsense

c.1260C>T; p.G420G; 20:33676786-33676786

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1110C>T; p.D370D; 20:33676936-33676936

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.916A>G; p.I306V; 20:33677255-33677255

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1150C>T; p.L384L; 20:33676896-33676896

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.880G>A; p.D294N; 20:33677291-33677291

 skinmalignant_melanomaSubstitution - Missense

c.880G>A; p.D294N; 20:33677291-33677291

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.497G>A; p.R166H; 20:33679830-33679830

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1221G>A; p.E407E; 20:33676825-33676825

 livercarcinomaSubstitution - coding silent

c.1221G>A; p.E407E; 20:33676825-33676825

 livercarcinomaSubstitution - coding silent

c.497G>A; p.R166H; 20:33679830-33679830

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.497G>A; p.R166H; 20:33679830-33679830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1165G>A; p.E389K; 20:33676881-33676881

 skinmalignant_melanomaSubstitution - Missense

c.503A>G; p.Y168C; 20:33679824-33679824

 breastcarcinomaSubstitution - Missense

c.841-1G>T; p.?; 20:33677331-33677331

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.392C>G; p.S131*; 20:33679935-33679935

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.989T>C; p.I330T; 20:33677182-33677182

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1087G>C; p.G363R; 20:33676959-33676959

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1036C>T; p.P346S; 20:33677135-33677135

 skinmalignant_melanomaSubstitution - Missense

c.475G>A; p.V159M; 20:33679852-33679852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.328G>A; p.G110S; 20:33680350-33680350

 skinmalignant_melanomaSubstitution - Missense

c.1080C>T; p.S360S; 20:33676966-33676966

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1239C>T; p.F413F; 20:33676807-33676807

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.362_363CC>TT; p.S121F; 20:33679964-33679965

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1037C>T; p.P346L; 20:33677134-33677134

 skinmalignant_melanomaSubstitution - Missense

c.1137G>T; p.A379A; 20:33676909-33676909

 pancreascarcinomaSubstitution - coding silent

c.963G>T; p.E321D; 20:33677208-33677208

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.380G>A; p.R127H; 20:33679947-33679947

 prostatecarcinomaSubstitution - Missense

c.361_362insT; p.S121fs*9; 20:33679965-33679966

 breastcarcinomaInsertion - Frameshift

c.838G>C; p.E280Q; 20:33677428-33677428

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.303G>T; p.L101L; 20:33680375-33680375

 skinmalignant_melanomaSubstitution - coding silent

c.562A>C; p.I188L; 20:33679765-33679765

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1303C>T; p.L435L; 20:33676743-33676743

 skinmalignant_melanomaSubstitution - coding silent

c.1022C>T; p.S341F; 20:33677149-33677149

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.896C>A; p.P299H; 20:33677275-33677275

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.357G>T; p.V119V; 20:33679970-33679970

 breastcarcinomaSubstitution - coding silent

c.1001C>T; p.P334L; 20:33677170-33677170

 NSmalignant_melanomaSubstitution - Missense

c.494G>A; p.R165Q; 20:33679833-33679833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.494G>A; p.R165Q; 20:33679833-33679833

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.430A>C; p.S144R; 20:33679897-33679897

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1014C>A; p.P338P; 20:33677157-33677157

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1246G>A; p.E416K; 20:33676800-33676800

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.935C>T; p.P312L; 20:33677236-33677236

 NSmalignant_melanomaSubstitution - Missense

c.514A>G; p.N172D; 20:33679813-33679813

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.632G>C; p.R211P; 20:33678294-33678294

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.731C>T; p.A244V; 20:33677535-33677535

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.953C>T; p.S318F; 20:33677218-33677218

 skinmalignant_melanomaSubstitution - Missense

c.691C>G; p.L231V; 20:33678235-33678235

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.694C>T; p.R232C; 20:33678232-33678232

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.737T>C; p.V246A; 20:33677529-33677529

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.737T>C; p.V246A; 20:33677529-33677529

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.588A>T; p.T196T; 20:33678338-33678338

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.520C>T; p.L174F; 20:33679807-33679807

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.680G>T; p.C227F; 20:33678246-33678246

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.906C>T; p.T302T; 20:33677265-33677265

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.362C>T; p.S121F; 20:33679965-33679965

 skinmalignant_melanomaSubstitution - Missense

c.362C>T; p.S121F; 20:33679965-33679965

 skinmalignant_melanomaSubstitution - Missense

c.345A>G; p.P115P; 20:33680333-33680333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.362C>T; p.S121F; 20:33679965-33679965

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.771T>C; p.P257P; 20:33677495-33677495

 stomachadenocarcinomaSubstitution - coding silent

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