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

Basic Information

Gene ID

1871

Name

E2F3

Synonymous

E2F transcription factor 3;E2F3;E2F transcription factor 3

Definition

transcription factor E2F3

Position

6p22

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.17.

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.550G>T; p.G184C; 6:20481250-20481250

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.914G>A; p.R305Q; 6:20486718-20486718

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.77C>T; p.A26V; 6:20402309-20402309

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.778T>A; p.S260T; 6:20482814-20482814

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.864C>T; p.T288T; 6:20482900-20482900

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.823G>A; p.E275K; 6:20482859-20482859

 breastcarcinomaSubstitution - Missense

c.85G>A; p.A29T; 6:20402317-20402317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.450A>T; p.L150F; 6:20479902-20479902

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1312C>A; p.L438I; 6:20490344-20490344

 thyroidother; neoplasmSubstitution - Missense

c.1283C>T; p.P428L; 6:20490315-20490315

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1305C>T; p.L435L; 6:20490337-20490337

 skinmalignant_melanomaSubstitution - coding silent

c.1188C>G; p.N396K; 6:20490220-20490220

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1116C>T; p.I372I; 6:20488229-20488229

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.147C>T; p.A49A; 6:20402379-20402379

 thyroidcarcinomaSubstitution - coding silent

c.147C>T; p.A49A; 6:20402379-20402379

 thyroidcarcinomaSubstitution - coding silent

c.1154C>G; p.S385*; 6:20490186-20490186

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.523_524insA; p.T177fs*4; 6:20481223-20481224

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.552T>C; p.G184G; 6:20481252-20481252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.485G>A; p.R162Q; 6:20479937-20479937

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.485G>A; p.R162Q; 6:20479937-20479937

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1282C>T; p.P428S; 6:20490314-20490314

 skinmalignant_melanomaSubstitution - Missense

c.1344C>T; p.F448F; 6:20490376-20490376

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1344C>T; p.F448F; 6:20490376-20490376

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.162G>C; p.P54P; 6:20402394-20402394

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.915delA; p.I307fs*10; 6:20486719-20486719

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.810G>A; p.E270E; 6:20482846-20482846

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1178C>A; p.S393Y; 6:20490210-20490210

 breastcarcinomaSubstitution - Missense

c.1085_1088delAAAC; p.N364fs*54; 6:20488198-20488201

 breastcarcinomaDeletion - Frameshift

c.1031G>T; p.G344V; 6:20488144-20488144

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.662T>C; p.I221T; 6:20481362-20481362

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.139_150del12; p.A50_A53delAAAA; 6:20402371-20402382

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1209A>T; p.P403P; 6:20490241-20490241

 livercarcinomaSubstitution - coding silent

c.1138T>A; p.L380M; 6:20490170-20490170

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.74T>C; p.V25A; 6:20402306-20402306

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.893A>G; p.Y298C; 6:20486697-20486697

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1249A>G; p.N417D; 6:20490281-20490281

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.714C>T; p.N238N; 6:20481414-20481414

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.714C>T; p.N238N; 6:20481414-20481414

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1369C>T; p.P457S; 6:20490401-20490401

 skinmalignant_melanomaSubstitution - Missense

c.5G>T; p.R2I; 6:20402237-20402237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.798C>T; p.L266L; 6:20482834-20482834

 skinmalignant_melanomaSubstitution - coding silent

c.1167T>G; p.D389E; 6:20490199-20490199

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1142C>A; p.A381D; 6:20490174-20490174

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1224G>A; p.Q408Q; 6:20490256-20490256

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1252C>T; p.L418L; 6:20490284-20490284

 skinmalignant_melanomaSubstitution - coding silent

c.741T>A; p.S247S; 6:20482777-20482777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1169G>T; p.C390F; 6:20490201-20490201

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.A376T; 6:20488239-20488239

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.58G>A; p.E20K; 6:20402290-20402290

 skinmalignant_melanomaSubstitution - Missense

c.666C>A; p.T222T; 6:20481366-20481366

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.78C>T; p.A26A; 6:20402310-20402310

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.752G>A; p.G251D; 6:20482788-20482788

 livercarcinomaSubstitution - Missense

c.272C>T; p.A91V; 6:20402504-20402504

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.752G>A; p.G251D; 6:20482788-20482788

 livercarcinomaSubstitution - Missense

c.1243C>T; p.P415S; 6:20490275-20490275

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.952G>T; p.V318L; 6:20486756-20486756

 thyroidcarcinomaSubstitution - Missense

c.1243C>T; p.P415S; 6:20490275-20490275

 skinmalignant_melanomaSubstitution - Missense

c.524delA; p.T177fs*18; 6:20481224-20481224

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.936C>A; p.D312E; 6:20486740-20486740

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.867G>A; p.E289E; 6:20482903-20482903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.742G>C; p.E248Q; 6:20482778-20482778

 breastcarcinomaSubstitution - Missense

c.1387A>G; p.M463V; 6:20490419-20490419

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.513A>G; p.K171K; 6:20481213-20481213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.694_696delAAG; p.K234delK; 6:20481394-20481396

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1201G>T; p.A401S; 6:20490233-20490233

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1261_1262CC>TT; p.P421L; 6:20490293-20490294

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1195C>T; p.P399S; 6:20490227-20490227

 skinmalignant_melanomaSubstitution - Missense

c.1263G>A; p.P421P; 6:20490295-20490295

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1263G>A; p.P421P; 6:20490295-20490295

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.84C>A; p.A28A; 6:20402316-20402316

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1034C>G; p.P345R; 6:20488147-20488147

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.680G>T; p.G227V; 6:20481380-20481380

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.D220N; 6:20481358-20481358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1124C>T; p.P375L; 6:20488237-20488237

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21C>T; p.P7P; 6:20402253-20402253

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

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