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

Basic Information

Gene ID

55840

Name

EAF2

Synonymous

ELL associated factor 2;EAF2;ELL associated factor 2

Definition

ELL-associated factor 2|testosterone-regulated apoptosis inducer and tumor suppressor protein

Position

3q13.33

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 0.17.

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.550A>C; p.S184R; 3:121872602-121872602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.742G>T; p.D248Y; 3:121886347-121886347

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.416A>G; p.N139S; 3:121857088-121857088

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.519G>A; p.M173I; 3:121872571-121872571

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.519G>A; p.M173I; 3:121872571-121872571

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.58G>A; p.G20R; 3:121835343-121835343

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.326_327insA; p.T112fs*4; 3:121854811-121854812

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.384A>G; p.Q128Q; 3:121857056-121857056

 skinmalignant_melanomaSubstitution - coding silent

c.296G>A; p.R99Q; 3:121854781-121854781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.412C>T; p.P138S; 3:121857084-121857084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.477C>T; p.I159I; 3:121857149-121857149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.477C>T; p.I159I; 3:121857149-121857149

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.755G>A; p.S252N; 3:121886360-121886360

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.510G>T; p.M170I; 3:121872562-121872562

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.131A>G; p.D44G; 3:121844477-121844477

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3G>T; p.M1I; 3:121835288-121835288

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.9C>A; p.S3R; 3:121835294-121835294

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.627A>G; p.T209T; 3:121872679-121872679

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.21C>T; p.F7F; 3:121835306-121835306

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.434C>T; p.P145L; 3:121857106-121857106

 skinmalignant_melanomaSubstitution - Missense

c.295C>T; p.R99W; 3:121854780-121854780

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.718C>T; p.L240F; 3:121872770-121872770

 skinmalignant_melanomaSubstitution - Missense

c.543T>A; p.D181E; 3:121872595-121872595

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.418C>T; p.L140F; 3:121857090-121857090

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.214C>G; p.P72A; 3:121854699-121854699

 breastcarcinomaSubstitution - Missense

c.43C>A; p.R15R; 3:121835328-121835328

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.162T>C; p.G54G; 3:121844508-121844508

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.31G>A; p.D11N; 3:121835316-121835316

 oesophaguscarcinomaSubstitution - Missense

c.250T>C; p.L84L; 3:121854735-121854735

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>T; p.S204S; 3:121872664-121872664

 skinmalignant_melanomaSubstitution - coding silent

c.51C>T; p.L17L; 3:121835336-121835336

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.674C>T; p.P225L; 3:121872726-121872726

 skinmalignant_melanomaSubstitution - Missense

c.279T>C; p.H93H; 3:121854764-121854764

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.494C>T; p.A165V; 3:121872546-121872546

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.494C>T; p.A165V; 3:121872546-121872546

 pancreascarcinomaSubstitution - Missense

c.333A>G; p.K111K; 3:121854818-121854818

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.327delA; p.T112fs*30; 3:121854812-121854812

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.342T>A; p.V114V; 3:121857014-121857014

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.237delA; p.K81fs*4; 3:121854722-121854722

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.18A>C; p.G6G; 3:121835303-121835303

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.628G>A; p.G210R; 3:121872680-121872680

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.24A>T; p.S8S; 3:121835309-121835309

 skinmalignant_melanomaSubstitution - coding silent

c.247T>G; p.Y83D; 3:121854732-121854732

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.S204F; 3:121872663-121872663

 skinmalignant_melanomaSubstitution - Missense

c.598G>A; p.E200K; 3:121872650-121872650

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.475A>T; p.I159F; 3:121857147-121857147

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.507A>C; p.L169L; 3:121872559-121872559

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.564A>G; p.S188S; 3:121872616-121872616

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.395G>A; p.W132*; 3:121857067-121857067

 skinmalignant_melanomaSubstitution - Nonsense

c.700T>C; p.F234L; 3:121872752-121872752

 pancreascarcinomaSubstitution - Missense

c.685G>T; p.A229S; 3:121872737-121872737

 skinmalignant_melanomaSubstitution - Missense

c.612C>A; p.S204S; 3:121872664-121872664

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.505C>G; p.L169V; 3:121872557-121872557

 thyroidother; neoplasmSubstitution - Missense

c.641C>A; p.S214*; 3:121872693-121872693

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.47T>C; p.V16A; 3:121835332-121835332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.629G>A; p.G210E; 3:121872681-121872681

 skinmalignant_melanomaSubstitution - Missense

c.367C>T; p.R123C; 3:121857039-121857039

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.524G>T; p.S175I; 3:121872576-121872576

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.256G>T; p.E86*; 3:121854741-121854741

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.82C>G; p.R28G; 3:121835367-121835367

 thyroidother; neoplasmSubstitution - Missense

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