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

Basic Information

Gene ID

85403

Name

EAF1

Synonymous

ELL associated factor 1;EAF1;ELL associated factor 1

Definition

ELL (eleven nineteen lysine-rich leukemia gene)-associated factor 1|ELL-associated factor 1

Position

3p25.1

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 0.08.

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.419C>T; p.P140L; 3:15434431-15434431

 skinmalignant_melanomaSubstitution - Missense

c.196C>G; p.P66A; 3:15430005-15430005

 livercarcinomaSubstitution - Missense

c.467A>C; p.K156T; 3:15434479-15434479

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.728C>T; p.P243L; 3:15436543-15436543

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.238C>T; p.R80W; 3:15432126-15432126

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.69G>A; p.E23E; 3:15427848-15427848

 breastcarcinomaSubstitution - coding silent

c.442C>T; p.P148S; 3:15434454-15434454

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.666G>A; p.P222P; 3:15436481-15436481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.666G>A; p.P222P; 3:15436481-15436481

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.722G>T; p.S241I; 3:15436537-15436537

 central_nervous_system; braingliomaSubstitution - Missense

c.492C>T; p.P164P; 3:15434504-15434504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.198T>G; p.P66P; 3:15430007-15430007

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.584C>G; p.S195C; 3:15436399-15436399

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.173T>C; p.V58A; 3:15429982-15429982

 breastcarcinomaSubstitution - Missense

c.492C>G; p.P164P; 3:15434504-15434504

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.492C>G; p.P164P; 3:15434504-15434504

 kidneyother; neoplasmSubstitution - coding silent

c.335+1G>A; p.?; 3:15432224-15432224

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.361G>A; p.A121T; 3:15434373-15434373

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.290A>G; p.Y97C; 3:15432178-15432178

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.314G>A; p.S105N; 3:15432202-15432202

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.386G>A; p.R129H; 3:15434398-15434398

 prostatecarcinomaSubstitution - Missense

c.160A>G; p.K54E; 3:15429969-15429969

 livercarcinomaSubstitution - Missense

c.160A>G; p.K54E; 3:15429969-15429969

 livercarcinomaSubstitution - Missense

c.548T>G; p.I183S; 3:15436363-15436363

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.664C>T; p.P222S; 3:15436479-15436479

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.726G>A; p.R242R; 3:15436541-15436541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.229G>A; p.G77R; 3:15432117-15432117

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.168T>C; p.D56D; 3:15429977-15429977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.561_562insC; p.S188fs*12; 3:15436376-15436377

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.278A>G; p.D93G; 3:15432166-15432166

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.13G>A; p.A5T; 3:15427792-15427792

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278A>G; p.D93G; 3:15432166-15432166

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

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