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

Basic Information

Gene ID

355

Name

FAS

Synonymous

Fas cell surface death receptor;FAS;Fas cell surface death receptor

Definition

APO-1 cell surface antigen|CD95 antigen|Delta Fas/APO-1/CD95|FAS 827dupA|FAS receptor variant 9|FASLG receptor|Fas (TNF receptor superfamily, member 6)|Fas AMA|TNF receptor superfamily member 6|apoptosis antigen 1|apoptosis-mediating surface antigen FAS|t

Position

10q24.1

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

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.20T>C; p.L7P; 10:88990896-88990896

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.665T>A; p.I222K; 10:89013356-89013356

 skinmalignant_melanomaSubstitution - Missense

c.59C>T; p.S20F; 10:89003057-89003057

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.870G>A; p.A290A; 10:89014312-89014312

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.870G>A; p.A290A; 10:89014312-89014312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.894_895insA; p.A301fs*20; 10:89014336-89014337

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.631G>T; p.E211*; 10:89012061-89012061

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.651+1G>A; p.?; 10:89012082-89012082

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.493T>A; p.C165S; 10:89010588-89010588

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.147G>A; p.L49L; 10:89003145-89003145

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.857G>A; p.G286E; 10:89014299-89014299

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.542T>C; p.L181P; 10:89010789-89010789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.793G>C; p.D265H; 10:89014235-89014235

 breastcarcinomaSubstitution - Missense

c.802C>G; p.Q268E; 10:89014244-89014244

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.381C>T; p.C127C; 10:89008935-89008935

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.2T>C; p.M1T; 10:88990878-88990878

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.428G>T; p.C143F; 10:89008982-89008982

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.826C>T; p.Q276*; 10:89014268-89014268

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Nonsense

c.189T>C; p.C63C; 10:89003187-89003187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.312T>C; p.C104C; 10:89007815-89007815

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.652-2A>G; p.?; 10:89013341-89013341

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaUnknown

c.340G>A; p.E114K; 10:89008894-89008894

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.806A>G; p.D269G; 10:89014248-89014248

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.835C>A; p.R279S; 10:89014277-89014277

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.739G>A; p.G247S; 10:89014181-89014181

 skin; acralmalignant_melanomaSubstitution - Missense

c.559A>C; p.I187L; 10:89010806-89010806

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.263G>A; p.G88E; 10:89007766-89007766

 skinmalignant_melanomaSubstitution - Missense

c.341A>T; p.E114V; 10:89008895-89008895

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.781G>A; p.E261K; 10:89014223-89014223

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.370A>C; p.N124H; 10:89008924-89008924

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.682G>A; p.D228N; 10:89014124-89014124

 breastcarcinomaSubstitution - Missense

c.525G>A; p.G175G; 10:89010772-89010772

 skinmalignant_melanomaSubstitution - coding silent

c.794A>G; p.D265G; 10:89014236-89014236

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.315A>T; p.R105S; 10:89007818-89007818

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.848A>G; p.Q283R; 10:89014290-89014290

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.119C>T; p.T40I; 10:89003117-89003117

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.657A>G; p.T219T; 10:89013348-89013348

 livercarcinomaSubstitution - coding silent

c.657A>G; p.T219T; 10:89013348-89013348

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.362G>A; p.R121Q; 10:89008916-89008916

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.444-1G>T; p.?; 10:89010538-89010538

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.165T>C; p.D55D; 10:89003163-89003163

 livercarcinomaSubstitution - coding silent

c.165T>C; p.D55D; 10:89003163-89003163

 livercarcinomaSubstitution - coding silent

c.853C>T; p.H285Y; 10:89014295-89014295

 skinmalignant_melanomaSubstitution - Missense

c.801C>A; p.V267V; 10:89014243-89014243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.786C>T; p.I262I; 10:89014228-89014228

 skinmalignant_melanomaSubstitution - coding silent

c.656_658CAG>C; p.V220fs*6; 10:89013347-89013349

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaComplex - frameshift

c.696T>G; p.Y232*; 10:89014138-89014138

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.680_684delTTGAC; p.D228fs*2; 10:89014122-89014126

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaDeletion - Frameshift

c.950A>T; p.D317V; 10:89014392-89014392

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.843G>A; p.W281*; 10:89014285-89014285

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.465G>C; p.K155N; 10:89010560-89010560

 skinmalignant_melanomaSubstitution - Missense

c.536T>A; p.L179H; 10:89010783-89010783

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.696T>A; p.Y232*; 10:89014138-89014138

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.696T>A; p.Y232*; 10:89014138-89014138

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; follicular_lymphomaSubstitution - Nonsense

c.653A>G; p.E218G; 10:89013344-89013344

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.249G>C; p.V83V; 10:89007752-89007752

 livercarcinomaSubstitution - coding silent

c.249G>C; p.V83V; 10:89007752-89007752

 livercarcinomaSubstitution - coding silent

c.434C>A; p.P145H; 10:89008988-89008988

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.474A>T; p.T158T; 10:89010569-89010569

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.953T>A; p.I318N; 10:89014395-89014395

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.396_397insT; p.C135fs*2; 10:89008950-89008951

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.396_397insT; p.C135fs*2; 10:89008950-89008951

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.503delA; p.G169fs*18; 10:89010598-89010598

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.733G>C; p.V245L; 10:89014175-89014175

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.60C>T; p.S20S; 10:89003058-89003058

 skinmalignant_melanomaSubstitution - coding silent

c.869C>T; p.A290V; 10:89014311-89014311

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.925A>C; p.K309Q; 10:89014367-89014367

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.534T>C; p.C178C; 10:89010781-89010781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.444-1G>A; p.?; 10:89010538-89010538

 skinmalignant_melanomaUnknown

c.286C>T; p.H96Y; 10:89007789-89007789

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.805G>A; p.D269N; 10:89014247-89014247

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.397delT; p.C135fs*52; 10:89008951-89008951

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.397delT; p.C135fs*52; 10:89008951-89008951

 skinmalignant_melanomaDeletion - Frameshift

c.608G>T; p.R203I; 10:89012038-89012038

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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