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

Basic Information

Gene ID

201163

Name

FLCN

Synonymous

folliculin;FLCN;folliculin

Definition

BHD skin lesion fibrofolliculoma protein|birt-Hogg-Dube syndrome protein

Position

17p11.2

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 0.31.

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.514A>G; p.I172V; 17:17224026-17224026

 livercarcinomaSubstitution - Missense

c.514A>G; p.I172V; 17:17224026-17224026

 livercarcinomaSubstitution - Missense

c.238G>A; p.D80N; 17:17227900-17227900

 skinmalignant_melanomaSubstitution - Missense

c.506G>A; p.W169*; 17:17224034-17224034

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.44G>A; p.G15D; 17:17228094-17228094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.120C>T; p.G40G; 17:17228018-17228018

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1084C>T; p.R362C; 17:17217161-17217161

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1189G>A; p.V397M; 17:17216491-17216491

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.123G>T; p.Q41H; 17:17228015-17228015

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.833C>T; p.P278L; 17:17221575-17221575

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1280C>T; p.P427L; 17:17216400-17216400

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1139A>T; p.D380V; 17:17217106-17217106

 skinmalignant_melanomaSubstitution - Missense

c.756G>A; p.A252A; 17:17222524-17222524

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.586A>G; p.I196V; 17:17223954-17223954

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.837C>T; p.T279T; 17:17221571-17221571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1270G>A; p.V424M; 17:17216410-17216410

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1270G>A; p.V424M; 17:17216410-17216410

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.766A>G; p.T256A; 17:17222514-17222514

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.766A>G; p.T256A; 17:17222514-17222514

 stomachadenocarcinomaSubstitution - Missense

c.42C>T; p.H14H; 17:17228096-17228096

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.42C>T; p.H14H; 17:17228096-17228096

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1192G>T; p.G398C; 17:17216488-17216488

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1290G>A; p.V430V; 17:17216390-17216390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.436G>A; p.E146K; 17:17224104-17224104

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1287C>T; p.H429H; 17:17216393-17216393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.430G>A; p.G144R; 17:17224110-17224110

 skinmalignant_melanomaSubstitution - Missense

c.78C>T; p.H26H; 17:17228060-17228060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.78C>T; p.H26H; 17:17228060-17228060

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1226A>T; p.Y409F; 17:17216454-17216454

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.79G>A; p.A27T; 17:17228059-17228059

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1389C>T; p.Y463Y; 17:17215228-17215228

 pancreascarcinomaSubstitution - coding silent

c.207C>T; p.V69V; 17:17227931-17227931

 stomachadenocarcinomaSubstitution - coding silent

c.32G>T; p.C11F; 17:17228106-17228106

 livercarcinomaSubstitution - Missense

c.32G>T; p.C11F; 17:17228106-17228106

 livercarcinomaSubstitution - Missense

c.1623G>A; p.A541A; 17:17213772-17213772

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.148G>A; p.G50S; 17:17227990-17227990

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.1537A>C; p.N513H; 17:17214986-17214986

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.175C>G; p.R59G; 17:17227963-17227963

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1732C>T; p.R578W; 17:17213663-17213663

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.897G>A; p.W299*; 17:17219184-17219184

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.897G>A; p.W299*; 17:17219184-17219184

 livercarcinomaSubstitution - Nonsense

c.49_51delCGC; p.R17delR; 17:17228087-17228089

 livercarcinoma; hepatocellular_carcinomaDeletion - In frame

c.1733G>A; p.R578Q; 17:17213662-17213662

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1217G>A; p.S406N; 17:17216463-17216463

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.810C>T; p.T270T; 17:17221598-17221598

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1521C>G; p.L507L; 17:17215002-17215002

 skinmalignant_melanomaSubstitution - coding silent

c.1543G>T; p.V515L; 17:17213852-17213852

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1277T>C; p.I426T; 17:17216403-17216403

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1277T>C; p.I426T; 17:17216403-17216403

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.773T>C; p.F258S; 17:17222507-17222507

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.725C>G; p.T242R; 17:17222555-17222555

 livercarcinomaSubstitution - Missense

c.725C>G; p.T242R; 17:17222555-17222555

 livercarcinomaSubstitution - Missense

c.940C>T; p.P314S; 17:17219141-17219141

 skinmalignant_melanomaSubstitution - Missense

c.49delC; p.R17fs*38; 17:17228089-17228089

 thyroidcarcinoma; anaplastic_carcinomaDeletion - Frameshift

c.599T>C; p.L200P; 17:17223941-17223941

 livercarcinomaSubstitution - Missense

c.49delC; p.R17fs*38; 17:17228089-17228089

 thyroidcarcinoma; anaplastic_carcinomaDeletion - Frameshift

c.1266G>A; p.P422P; 17:17216414-17216414

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.976C>T; p.P326S; 17:17219105-17219105

 skinmalignant_melanomaSubstitution - Missense

c.334C>T; p.P112S; 17:17226238-17226238

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1241G>T; p.R414L; 17:17216439-17216439

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1023G>T; p.R341R; 17:17219058-17219058

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1241G>T; p.R414L; 17:17216439-17216439

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.990C>A; p.S330S; 17:17219091-17219091

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.977C>A; p.P326Q; 17:17219104-17219104

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.180G>T; p.A60A; 17:17227958-17227958

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1284_1285insC; p.H429fs*27; 17:17216395-17216396

 pancreascarcinoma; acinar_carcinomaInsertion - Frameshift

c.1739G>C; p.*580S; 17:17213656-17213656

 urinary_tract; bladdercarcinomaNonstop extension

c.33C>T; p.C11C; 17:17228105-17228105

 livercarcinomaSubstitution - coding silent

c.1378C>G; p.L460V; 17:17215239-17215239

 NSNSSubstitution - Missense

c.33C>T; p.C11C; 17:17228105-17228105

 livercarcinomaSubstitution - coding silent

c.345C>G; p.P115P; 17:17226227-17226227

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1046T>C; p.L349P; 17:17219035-17219035

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.50G>A; p.R17H; 17:17228088-17228088

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1315G>A; p.V439M; 17:17215302-17215302

 pancreascarcinomaSubstitution - Missense

c.139G>C; p.E47Q; 17:17227999-17227999

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.191C>T; p.A64V; 17:17227947-17227947

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.581G>T; p.R194L; 17:17223959-17223959

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.989C>T; p.S330F; 17:17219092-17219092

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.998C>G; p.S333*; 17:17219083-17219083

 breastcarcinomaSubstitution - Nonsense

c.39C>T; p.L13L; 17:17228099-17228099

 livercarcinomaSubstitution - coding silent

c.39C>T; p.L13L; 17:17228099-17228099

 livercarcinomaSubstitution - coding silent

c.681G>A; p.T227T; 17:17222599-17222599

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.306C>A; p.T102T; 17:17226266-17226266

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1044C>T; p.S348S; 17:17219037-17219037

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.545T>C; p.L182P; 17:17223995-17223995

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.996C>T; p.L332L; 17:17219085-17219085

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.619G>A; p.V207M; 17:17222661-17222661

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1202G>A; p.R401H; 17:17216478-17216478

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1202G>A; p.R401H; 17:17216478-17216478

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.720G>A; p.S240S; 17:17222560-17222560

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1703C>T; p.T568M; 17:17213692-17213692

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1580G>A; p.R527Q; 17:17213815-17213815

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.617A>G; p.K206R; 17:17223923-17223923

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.633G>T; p.E211D; 17:17222647-17222647

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1567A>T; p.K523*; 17:17213828-17213828

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1622C>T; p.A541V; 17:17213773-17213773

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.546C>A; p.L182L; 17:17223994-17223994

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1285_1286insC; p.H429fs*27; 17:17216394-17216395

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1285delC; p.H429fs*39; 17:17216402-17216402

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.471_472insTTC; p.F157_I158insF; 17:17224068-17224069

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.952G>T; p.E318*; 17:17219129-17219129

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.751T>A; p.W251R; 17:17222529-17222529

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1579C>T; p.R527*; 17:17213816-17213816

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.3G>A; p.M1I; 17:17228135-17228135

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.170G>A; p.R57Q; 17:17227968-17227968

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1390G>A; p.E464K; 17:17215227-17215227

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1611C>T; p.S537S; 17:17213784-17213784

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.992C>T; p.S331F; 17:17219089-17219089

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

')