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

Basic Information

Gene ID

8726

Name

EED

Synonymous

embryonic ectoderm development;EED;embryonic ectoderm development

Definition

WD protein associating with integrin cytoplasmic tails 1|polycomb protein EED

Position

11q14.2-q22.3

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 0.10.

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.552G>T; p.K184N; 11:86256512-86256512

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.966+3A>G; p.?; 11:86268564-86268564

 livercarcinomaUnknown

c.594C>T; p.F198F; 11:86257556-86257556

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.806G>T; p.R269I; 11:86266162-86266162

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.806G>T; p.R269I; 11:86266162-86266162

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.508G>A; p.G170S; 11:86256468-86256468

 skinmalignant_melanomaSubstitution - Missense

c.330A>G; p.P110P; 11:86252210-86252210

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.673C>G; p.L225V; 11:86264210-86264210

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.470A>G; p.N157S; 11:86256430-86256430

 livercarcinomaSubstitution - Missense

c.1172T>C; p.L391S; 11:86277964-86277964

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064G>A; p.R355Q; 11:86277077-86277077

 breastcarcinomaSubstitution - Missense

c.560T>G; p.V187G; 11:86257522-86257522

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.758C>T; p.S253F; 11:86266114-86266114

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120C>T; p.D40D; 11:86250301-86250301

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.188C>A; p.P63H; 11:86250369-86250369

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1119G>A; p.W373*; 11:86277132-86277132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.587T>A; p.L196Q; 11:86257549-86257549

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.587T>A; p.L196Q; 11:86257549-86257549

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.587T>A; p.L196Q; 11:86257549-86257549

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.142A>G; p.T48A; 11:86250323-86250323

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.424G>A; p.D142N; 11:86255285-86255285

 breastcarcinomaSubstitution - Missense

c.674T>C; p.L225P; 11:86264211-86264211

 skinmalignant_melanomaSubstitution - Missense

c.33G>A; p.A11A; 11:86245262-86245262

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.955A>C; p.I319L; 11:86268550-86268550

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.376T>C; p.C126R; 11:86255237-86255237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.904A>G; p.R302G; 11:86268499-86268499

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.510C>T; p.G170G; 11:86256470-86256470

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.350G>T; p.G117V; 11:86252230-86252230

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1321C>T; p.R441*; 11:86278520-86278520

 skinmalignant_melanomaSubstitution - Nonsense

c.1116C>A; p.F372L; 11:86277129-86277129

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1321C>T; p.R441*; 11:86278520-86278520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.964A>G; p.K322E; 11:86268559-86268559

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.751A>G; p.I251V; 11:86266107-86266107

 thyroidcarcinomaSubstitution - Missense

c.695T>C; p.V232A; 11:86264232-86264232

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.690A>T; p.G230G; 11:86264227-86264227

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.121G>A; p.A41T; 11:86250302-86250302

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.274C>T; p.H92Y; 11:86252154-86252154

 skinmalignant_melanomaSubstitution - Missense

c.213delA; p.K72fs*14; 11:86250394-86250394

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.213delA; p.K72fs*14; 11:86250394-86250394

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.778C>T; p.L260F; 11:86266134-86266134

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.180A>G; p.P60P; 11:86250361-86250361

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.903C>T; p.T301T; 11:86268498-86268498

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.397C>T; p.R133W; 11:86255258-86255258

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.619C>T; p.L207L; 11:86257581-86257581

 breastcarcinomaSubstitution - coding silent

c.1054A>G; p.I352V; 11:86277067-86277067

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.114T>A; p.N38K; 11:86245343-86245343

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.104G>A; p.G35E; 11:86245333-86245333

 thyroidcarcinomaSubstitution - Missense

c.413A>T; p.Y138F; 11:86255274-86255274

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.413A>T; p.Y138F; 11:86255274-86255274

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1088T>C; p.I363T; 11:86277101-86277101

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.509G>T; p.G170V; 11:86256469-86256469

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.319G>A; p.E107K; 11:86252199-86252199

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1199+10T>C; p.?; 11:86278001-86278001

 stomachcarcinoma; adenocarcinomaUnknown

c.813G>T; p.M271I; 11:86266169-86266169

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.788G>T; p.W263L; 11:86266144-86266144

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.948C>T; p.G316G; 11:86268543-86268543

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.607C>A; p.P203T; 11:86257569-86257569

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.28C>T; p.P10S; 11:86245257-86245257

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.484C>T; p.L162L; 11:86256444-86256444

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.484C>T; p.L162L; 11:86256444-86256444

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1110G>A; p.M370I; 11:86277123-86277123

 skinmalignant_melanomaSubstitution - Missense

c.230A>G; p.K77R; 11:86250411-86250411

 breastcarcinomaSubstitution - Missense

c.949G>A; p.D317N; 11:86268544-86268544

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.949G>A; p.D317N; 11:86268544-86268544

 pancreascarcinoid-endocrine_tumour; islet_cellSubstitution - Missense

c.230A>G; p.K77R; 11:86250411-86250411

 breastcarcinomaSubstitution - Missense

c.1077C>T; p.S359S; 11:86277090-86277090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.288G>T; p.L96F; 11:86252168-86252168

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1322G>A; p.R441Q; 11:86278521-86278521

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.224C>G; p.S75*; 11:86250405-86250405

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1241G>C; p.R414P; 11:86278440-86278440

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.752T>C; p.I251T; 11:86266108-86266108

 breastcarcinomaSubstitution - Missense

c.337T>C; p.F113L; 11:86252217-86252217

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1129C>A; p.L377I; 11:86277921-86277921

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.137G>C; p.S46T; 11:86250318-86250318

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.224C>A; p.S75*; 11:86250405-86250405

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.624A>C; p.S208S; 11:86257586-86257586

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.482C>T; p.P161L; 11:86256442-86256442

 skinmalignant_melanomaSubstitution - Missense

c.1231G>C; p.A411P; 11:86278430-86278430

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.776C>T; p.S259F; 11:86266132-86266132

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.776C>T; p.S259F; 11:86266132-86266132

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.27G>A; p.A9A; 11:86245256-86245256

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1118G>A; p.W373*; 11:86277131-86277131

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.861-3C>T; p.?; 11:86268453-86268453

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.535A>G; p.T179A; 11:86256495-86256495

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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