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

Basic Information

Gene ID

26298

Name

EHF

Synonymous

ets homologous factor;EHF;ets homologous factor

Definition

ESE3 transcription factor|ETS domain-containing transcription factor|ETS homologous factor|epithelium-specific Ets transcription factor 3|hEHF

Position

11p12

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

Top

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 0.19.

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.612G>C; p.P204P; 11:34658537-34658537

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.612G>C; p.P204P; 11:34658537-34658537

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.342C>T; p.N114N; 11:34646683-34646683

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.478T>C; p.L160L; 11:34651739-34651739

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.854T>C; p.V285A; 11:34658882-34658882

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.240C>G; p.I80M; 11:34646581-34646581

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.825T>G; p.I275M; 11:34658853-34658853

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.8T>C; p.L3P; 11:34642638-34642638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37C>G; p.P13A; 11:34642667-34642667

 breastcarcinomaSubstitution - Missense

c.829G>C; p.E277Q; 11:34658857-34658857

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.342C>G; p.N114K; 11:34646683-34646683

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.676T>A; p.L226I; 11:34658601-34658601

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.206A>T; p.D69V; 11:34646547-34646547

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.119G>A; p.G40D; 11:34646460-34646460

 skinmalignant_melanomaSubstitution - Missense

c.168G>A; p.W56*; 11:34646509-34646509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.51C>T; p.L17L; 11:34642681-34642681

 skinmalignant_melanomaSubstitution - coding silent

c.530G>A; p.S177N; 11:34651791-34651791

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.863T>G; p.F288C; 11:34658891-34658891

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754_756delAAG; p.K253delK; 11:34658679-34658681

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.383T>C; p.V128A; 11:34649058-34649058

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.363G>C; p.L121L; 11:34649038-34649038

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.706_707insTCTTCA; p.F237_R238insIF; 11:34658631-34658632

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.794G>A; p.R265Q; 11:34658719-34658719

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.636C>G; p.F212L; 11:34658561-34658561

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.287C>T; p.A96V; 11:34646628-34646628

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.443_444insT; p.L149fs*3; 11:34651578-34651579

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.62C>T; p.P21L; 11:34642692-34642692

 stomachadenocarcinomaSubstitution - Missense

c.311T>C; p.L104P; 11:34646652-34646652

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.14G>C; p.G5A; 11:34642644-34642644

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.109delT; p.F38fs*51; 11:34646450-34646450

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.612G>A; p.P204P; 11:34658537-34658537

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.752A>G; p.K251R; 11:34658677-34658677

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.398A>G; p.E133G; 11:34649073-34649073

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.598delA; p.K201fs*18; 11:34656961-34656961

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3G>A; p.M1I; 11:34642633-34642633

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.38C>A; p.P13H; 11:34642668-34642668

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514T>C; p.S172P; 11:34651775-34651775

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.186C>T; p.L62L; 11:34646527-34646527

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.658C>A; p.P220T; 11:34658583-34658583

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.733G>T; p.V245L; 11:34658658-34658658

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.764A>G; p.N255S; 11:34658689-34658689

 pancreascarcinomaSubstitution - Missense

c.759_761delGAA; p.K253delK; 11:34658684-34658686

 ovarycarcinomaDeletion - In frame

c.326_334delAGCATCTGA; p.H110_K112delHLK; 11:34646667-34646675

 ovarycarcinoma; serous_carcinomaDeletion - In frame

c.844C>G; p.R282G; 11:34658872-34658872

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.640C>T; p.R214C; 11:34658565-34658565

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.832C>T; p.R278C; 11:34658860-34658860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.299C>T; p.A100V; 11:34646640-34646640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.638T>A; p.I213N; 11:34658563-34658563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.832C>T; p.R278C; 11:34658860-34658860

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.456C>A; p.T152T; 11:34651591-34651591

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.631G>A; p.E211K; 11:34658556-34658556

 skinmalignant_melanomaSubstitution - Missense

c.395C>T; p.T132I; 11:34649070-34649070

 ovaryother; neoplasmSubstitution - Missense

c.234C>T; p.F78F; 11:34646575-34646575

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.705C>T; p.G235G; 11:34658630-34658630

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.705C>T; p.G235G; 11:34658630-34658630

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.705C>T; p.G235G; 11:34658630-34658630

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.610C>T; p.P204S; 11:34658535-34658535

 skinmalignant_melanomaSubstitution - Missense

c.833G>A; p.R278H; 11:34658861-34658861

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2T>C; p.M1T; 11:34642632-34642632

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.736G>T; p.A246S; 11:34658661-34658661

 autonomic_ganglianeuroblastomaSubstitution - Missense

')