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

Basic Information

Gene ID

2521

Name

FUS

Synonymous

FUS RNA binding protein;FUS;FUS RNA binding protein

Definition

75 kDa DNA-pairing protein|RNA-binding protein FUS|fus-like protein|fused in sarcoma|fusion gene in myxoid liposarcoma|heterogeneous nuclear ribonucleoprotein P2|oncogene FUS|oncogene TLS|translocated in liposarcoma protein

Position

16p11.2

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 0.14.

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.714C>T; p.G238G; 16:31185129-31185129

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.147C>A; p.G49G; 16:31182621-31182621

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.147C>A; p.G49G; 16:31182621-31182621

 thyroidother; neoplasmSubstitution - coding silent

c.147C>A; p.G49G; 16:31182621-31182621

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1087C>T; p.P363S; 16:31190060-31190060

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1530G>C; p.K510N; 16:31191099-31191099

 breastcarcinomaSubstitution - Missense

c.317C>T; p.P106L; 16:31183984-31183984

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.523+1G>T; p.?; 16:31184397-31184397

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.993C>G; p.G331G; 16:31189721-31189721

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.274G>A; p.G92R; 16:31183941-31183941

 prostatecarcinomaSubstitution - Missense

c.419A>C; p.Q140P; 16:31184292-31184292

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1458C>T; p.G486G; 16:31191027-31191027

 skinmalignant_melanomaSubstitution - coding silent

c.766G>A; p.G256R; 16:31186803-31186803

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1077C>T; p.F359F; 16:31190050-31190050

 skinmalignant_melanomaSubstitution - coding silent

c.259T>A; p.S87T; 16:31183926-31183926

 breastcarcinomaSubstitution - Missense

c.234T>C; p.T78T; 16:31183901-31183901

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.27_29delAGC; p.A10delA; 16:31182411-31182413

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1163G>A; p.R388Q; 16:31190136-31190136

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.135G>A; p.T45T; 16:31182609-31182609

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.413G>C; p.G138A; 16:31184286-31184286

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1136G>C; p.G379A; 16:31190109-31190109

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.592G>T; p.D198Y; 16:31185007-31185007

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1500T>C; p.G500G; 16:31191069-31191069

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1342A>T; p.K448*; 16:31190791-31190791

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.66G>A; p.G22G; 16:31182540-31182540

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1264C>A; p.R422R; 16:31190370-31190370

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.800-3A>T; p.?; 16:31188322-31188322

 urinary_tract; bladdercarcinomaUnknown

c.684C>T; p.G228G; 16:31185099-31185099

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.G228G; 16:31185099-31185099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.G228G; 16:31185099-31185099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.684C>T; p.G228G; 16:31185099-31185099

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.G228G; 16:31185099-31185099

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.684C>T; p.G228G; 16:31185099-31185099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1462G>T; p.G488C; 16:31191031-31191031

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1446C>T; p.G482G; 16:31191015-31191015

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.457C>T; p.Q153*; 16:31184330-31184330

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1493G>A; p.R498Q; 16:31191062-31191062

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.640G>A; p.G214R; 16:31185055-31185055

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1111C>T; p.R371C; 16:31190084-31190084

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1129C>T; p.R377W; 16:31190102-31190102

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1129C>T; p.R377W; 16:31190102-31190102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1418G>A; p.R473H; 16:31190987-31190987

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1418G>A; p.R473H; 16:31190987-31190987

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.687T>C; p.G229G; 16:31185102-31185102

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.210A>T; p.S70S; 16:31183877-31183877

 skinmalignant_melanomaSubstitution - coding silent

c.617G>C; p.G206A; 16:31185032-31185032

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1503_1505delGGA; p.D502delD; 16:31191072-31191074

 breastcarcinomaDeletion - In frame

c.1503_1505delGGA; p.D502delD; 16:31191072-31191074

 breastcarcinomaDeletion - In frame

c.1566G>T; p.R522S; 16:31191423-31191423

 thyroidother; neoplasmSubstitution - Missense

c.237C>T; p.G79G; 16:31183904-31183904

 prostatecarcinomaSubstitution - coding silent

c.1438G>A; p.D480N; 16:31191007-31191007

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1249G>A; p.G417S; 16:31190355-31190355

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.786C>T; p.F262F; 16:31186823-31186823

 skinmalignant_melanomaSubstitution - coding silent

c.1462G>A; p.G488S; 16:31191031-31191031

 prostatecarcinomaSubstitution - Missense

c.637C>T; p.R213C; 16:31185052-31185052

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.323G>A; p.S108N; 16:31183990-31183990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1340G>T; p.C447F; 16:31190789-31190789

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.934A>C; p.K312Q; 16:31189224-31189224

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.934A>C; p.K312Q; 16:31189224-31189224

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1486delG; p.G497fs*>30; 16:31191055-31191055

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.910T>C; p.Y304H; 16:31189200-31189200

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1339T>G; p.C447G; 16:31190788-31190788

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.339C>T; p.Y113Y; 16:31184212-31184212

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.136G>C; p.D46H; 16:31182610-31182610

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.684delC; p.G229fs*93; 16:31185099-31185099

 skinmalignant_melanomaDeletion - Frameshift

c.681C>T; p.G227G; 16:31185096-31185096

 livercarcinomaSubstitution - coding silent

c.681C>T; p.G227G; 16:31185096-31185096

 livercarcinomaSubstitution - coding silent

c.191-2A>T; p.?; 16:31183856-31183856

 skinmalignant_melanomaUnknown

c.1405G>A; p.G469R; 16:31190974-31190974

 oesophaguscarcinomaSubstitution - Missense

c.1463G>A; p.G488D; 16:31191032-31191032

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1289A>C; p.N430T; 16:31190395-31190395

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.630G>T; p.Q210H; 16:31185045-31185045

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.498T>A; p.G166G; 16:31184371-31184371

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1503G>A; p.G501G; 16:31191072-31191072

 skinmalignant_melanomaSubstitution - coding silent

c.1516T>G; p.F506V; 16:31191085-31191085

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.861C>T; p.I287I; 16:31189151-31189151

 skinmalignant_melanomaSubstitution - coding silent

c.1100C>A; p.S367*; 16:31190073-31190073

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1157G>A; p.R386Q; 16:31190130-31190130

 breastcarcinomaSubstitution - Missense

c.1412A>G; p.D471G; 16:31190981-31190981

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1470C>T; p.D490D; 16:31191039-31191039

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.273C>A; p.Y91*; 16:31183940-31183940

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1292C>T; p.P431L; 16:31190398-31190398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1179C>T; p.G393G; 16:31190285-31190285

 skinmalignant_melanomaSubstitution - coding silent

c.1013C>T; p.T338M; 16:31189741-31189741

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.964A>T; p.I322F; 16:31189692-31189692

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.964A>T; p.I322F; 16:31189692-31189692

 livercarcinomaSubstitution - Missense

c.611G>T; p.G204V; 16:31185026-31185026

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.531T>C; p.Y177Y; 16:31184946-31184946

 pancreascarcinomaSubstitution - coding silent

c.1542G>T; p.R514S; 16:31191399-31191399

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.669C>T; p.G223G; 16:31185084-31185084

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.669C>T; p.G223G; 16:31185084-31185084

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1539-4T>A; p.?; 16:31191392-31191392

 ovaryother; neoplasmUnknown

c.1539-4T>A; p.?; 16:31191392-31191392

 ovaryother; neoplasmUnknown

c.1348C>T; p.P450S; 16:31190797-31190797

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.846A>G; p.S282S; 16:31189136-31189136

 skinmalignant_melanomaSubstitution - coding silent

c.451delC; p.P152fs*33; 16:31184324-31184324

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1541G>T; p.R514M; 16:31191398-31191398

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1080C>A; p.S360S; 16:31190053-31190053

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1197T>C; p.G399G; 16:31190303-31190303

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1148G>A; p.R383H; 16:31190121-31190121

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.285C>T; p.S95S; 16:31183952-31183952

 skinmalignant_melanomaSubstitution - coding silent

c.776G>T; p.R259L; 16:31186813-31186813

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.67C>T; p.Q23*; 16:31182541-31182541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1401C>G; p.N467K; 16:31190970-31190970

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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