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

Basic Information

Gene ID

7429

Name

VIL1

Synonymous

villin 1;VIL1;villin 1

Definition

villin-1

Position

2q35

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 0.06.

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.1501G>A; p.G501R; 2:218434526-218434526

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1501G>A; p.G501R; 2:218434526-218434526

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.2066G>A; p.R689H; 2:218437218-218437218

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1240G>A; p.D414N; 2:218432082-218432082

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.101C>T; p.S34F; 2:218424302-218424302

 skin; armmalignant_melanomaSubstitution - Missense

c.599A>G; p.Q200R; 2:218429316-218429316

 skinmalignant_melanomaSubstitution - Missense

c.1677G>A; p.G559G; 2:218434702-218434702

 skin; armmalignant_melanomaSubstitution - coding silent

c.664C>T; p.L222L; 2:218429381-218429381

 skinmalignant_melanomaSubstitution - coding silent

c.1275C>T; p.D425D; 2:218432117-218432117

 skinmalignant_melanomaSubstitution - coding silent

c.606G>A; p.R202R; 2:218429323-218429323

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2422G>A; p.A808T; 2:218449274-218449274

 skinmalignant_melanomaSubstitution - Missense

c.540G>A; p.P180P; 2:218428310-218428310

 prostatecarcinomaSubstitution - coding silent

c.669G>A; p.M223I; 2:218429386-218429386

 skinmalignant_melanomaSubstitution - Missense

c.1713G>T; p.K571N; 2:218435321-218435321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.626G>A; p.G209D; 2:218429343-218429343

 skinmalignant_melanomaSubstitution - Missense

c.2002G>A; p.E668K; 2:218437154-218437154

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2002G>A; p.E668K; 2:218437154-218437154

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1017G>A; p.S339S; 2:218430793-218430793

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.2020G>A; p.A674T; 2:218437172-218437172

 breastcarcinomaSubstitution - Missense

c.1432C>A; p.R478R; 2:218432883-218432883

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1126G>A; p.D376N; 2:218431880-218431880

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1070G>A; p.G357D; 2:218430846-218430846

 pancreascarcinomaSubstitution - Missense

c.1128T>A; p.D376E; 2:218431882-218431882

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2106C>T; p.H702H; 2:218437258-218437258

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1498C>T; p.Q500*; 2:218432949-218432949

 skinmalignant_melanomaSubstitution - Nonsense

c.1614T>A; p.N538K; 2:218434639-218434639

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1349A>C; p.Q450P; 2:218432800-218432800

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>T; p.S366S; 2:218430874-218430874

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.4A>T; p.T2S; 2:218423782-218423782

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1302C>T; p.L434L; 2:218432144-218432144

 breastcarcinomaSubstitution - coding silent

c.144C>T; p.I48I; 2:218424345-218424345

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.505G>A; p.D169N; 2:218428275-218428275

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.988G>T; p.V330L; 2:218430764-218430764

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1606C>T; p.R536W; 2:218434631-218434631

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.468C>T; p.S156S; 2:218428238-218428238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1606C>T; p.R536W; 2:218434631-218434631

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2127C>T; p.G709G; 2:218437279-218437279

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2325G>A; p.K775K; 2:218440817-218440817

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.91C>A; p.P31T; 2:218424292-218424292

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.291C>T; p.R97R; 2:218425755-218425755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2246A>G; p.K749R; 2:218440738-218440738

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2307G>T; p.L769L; 2:218440799-218440799

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - coding silent

c.98C>T; p.P33L; 2:218424299-218424299

 skinmalignant_melanomaSubstitution - Missense

c.1834G>A; p.E612K; 2:218436489-218436489

 skinmalignant_melanomaSubstitution - Missense

c.2024C>A; p.A675E; 2:218437176-218437176

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2424C>T; p.A808A; 2:218449276-218449276

 breastcarcinomaSubstitution - coding silent

c.680A>G; p.N227S; 2:218429397-218429397

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1869G>A; p.E623E; 2:218436524-218436524

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1309G>A; p.E437K; 2:218432151-218432151

 stomachadenocarcinomaSubstitution - Missense

c.200G>A; p.G67D; 2:218425664-218425664

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1309G>A; p.E437K; 2:218432151-218432151

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1971G>A; p.Q657Q; 2:218436626-218436626

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.592C>T; p.R198*; 2:218429309-218429309

 NSNSSubstitution - Nonsense

c.592C>T; p.R198*; 2:218429309-218429309

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.739C>A; p.P247T; 2:218429456-218429456

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.292G>A; p.E98K; 2:218425756-218425756

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.292G>A; p.E98K; 2:218425756-218425756

 pancreascarcinomaSubstitution - Missense

c.130G>A; p.D44N; 2:218424331-218424331

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1483C>T; p.R495C; 2:218432934-218432934

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.595G>A; p.D199N; 2:218429312-218429312

 skinmalignant_melanomaSubstitution - Missense

c.2071C>T; p.P691S; 2:218437223-218437223

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.327C>G; p.G109G; 2:218425791-218425791

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2151C>T; p.F717F; 2:218437303-218437303

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1097C>T; p.S366F; 2:218430873-218430873

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2389G>T; p.D797Y; 2:218449241-218449241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2389G>T; p.D797Y; 2:218449241-218449241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1495T>C; p.Y499H; 2:218432946-218432946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2308G>A; p.E770K; 2:218440800-218440800

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.398C>T; p.S133F; 2:218428015-218428015

 skinmalignant_melanomaSubstitution - Missense

c.398C>T; p.S133F; 2:218428015-218428015

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.579G>T; p.L193L; 2:218429296-218429296

 breastcarcinomaSubstitution - coding silent

c.1273G>T; p.D425Y; 2:218432115-218432115

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.716C>T; p.A239V; 2:218429433-218429433

 skinmalignant_melanomaSubstitution - Missense

c.660G>A; p.P220P; 2:218429377-218429377

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.16G>A; p.A6T; 2:218423794-218423794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.911A>C; p.N304T; 2:218429910-218429910

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.16G>A; p.A6T; 2:218423794-218423794

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.16G>A; p.A6T; 2:218423794-218423794

 prostatecarcinomaSubstitution - Missense

c.307G>A; p.E103K; 2:218425771-218425771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1639G>C; p.V547L; 2:218434664-218434664

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1617C>T; p.F539F; 2:218434642-218434642

 skinmalignant_melanomaSubstitution - coding silent

c.73G>A; p.E25K; 2:218423851-218423851

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.870G>A; p.Q290Q; 2:218429869-218429869

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1710C>G; p.A570A; 2:218435318-218435318

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.682C>T; p.H228Y; 2:218429399-218429399

 skinmalignant_melanomaSubstitution - Missense

c.1020C>T; p.A340A; 2:218430796-218430796

 central_nervous_system; braingliomaSubstitution - coding silent

c.1508C>A; p.T503N; 2:218434533-218434533

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.408C>T; p.V136V; 2:218428025-218428025

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1333G>A; p.V445I; 2:218432175-218432175

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1333G>A; p.V445I; 2:218432175-218432175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367G>C; p.A123P; 2:218427984-218427984

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1656T>A; p.S552S; 2:218434681-218434681

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.367G>C; p.A123P; 2:218427984-218427984

 ovaryother; neoplasmSubstitution - Missense

c.1470C>T; p.S490S; 2:218432921-218432921

 skinmalignant_melanomaSubstitution - coding silent

c.1608G>A; p.R536R; 2:218434633-218434633

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1413T>C; p.N471N; 2:218432864-218432864

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.646G>A; p.E216K; 2:218429363-218429363

 skinmalignant_melanomaSubstitution - Missense

c.2313G>T; p.Q771H; 2:218440805-218440805

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1936G>A; p.E646K; 2:218436591-218436591

 skinmalignant_melanomaSubstitution - Missense

c.856T>C; p.Y286H; 2:218429855-218429855

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1187_1188GG>AA; p.G396E; 2:218431941-218431942

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2107G>A; p.E703K; 2:218437259-218437259

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264C>T; p.F88F; 2:218425728-218425728

 skinmalignant_melanomaSubstitution - coding silent

c.441C>T; p.N147N; 2:218428058-218428058

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.333C>T; p.F111F; 2:218425797-218425797

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.104G>A; p.S35N; 2:218424305-218424305

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.123C>T; p.F41F; 2:218424324-218424324

 skinmalignant_melanomaSubstitution - coding silent

c.1973_1975delTCT; p.F660delF; 2:218437125-218437127

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.123C>T; p.F41F; 2:218424324-218424324

 skinmalignant_melanomaSubstitution - coding silent

c.1625C>T; p.S542F; 2:218434650-218434650

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.522C>T; p.I174I; 2:218428292-218428292

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.387G>A; p.V129V; 2:218428004-218428004

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.358G>A; p.G120R; 2:218427975-218427975

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2001C>T; p.N667N; 2:218437153-218437153

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1499A>T; p.Q500L; 2:218432950-218432950

 skinmalignant_melanomaSubstitution - Missense

c.969G>C; p.Q323H; 2:218430745-218430745

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.995T>G; p.V332G; 2:218430771-218430771

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1743G>T; p.E581D; 2:218435351-218435351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2440C>T; p.R814*; 2:218449292-218449292

 breastcarcinomaSubstitution - Nonsense

c.385G>A; p.V129M; 2:218428002-218428002

 skinmalignant_melanomaSubstitution - Missense

c.300_301GG>AA; p.G101S; 2:218425764-218425765

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1655C>T; p.S552F; 2:218434680-218434680

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.586G>A; p.E196K; 2:218429303-218429303

 skinmalignant_melanomaSubstitution - Missense

c.835C>G; p.L279V; 2:218429661-218429661

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1021G>A; p.V341I; 2:218430797-218430797

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.172C>T; p.L58L; 2:218425636-218425636

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.2029A>G; p.T677A; 2:218437181-218437181

 skinmalignant_melanomaSubstitution - Missense

c.1046G>A; p.W349*; 2:218430822-218430822

 skinmalignant_melanomaSubstitution - Nonsense

c.1789G>A; p.A597T; 2:218435397-218435397

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1789G>A; p.A597T; 2:218435397-218435397

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1324C>T; p.L442L; 2:218432166-218432166

 skinmalignant_melanomaSubstitution - coding silent

c.1527G>A; p.L509L; 2:218434552-218434552

 skinmalignant_melanomaSubstitution - coding silent

c.899G>A; p.G300E; 2:218429898-218429898

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1473C>G; p.I491M; 2:218432924-218432924

 breastcarcinomaSubstitution - Missense

c.1324C>T; p.L442L; 2:218432166-218432166

 skinmalignant_melanomaSubstitution - coding silent

c.847G>A; p.E283K; 2:218429673-218429673

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.636C>T; p.D212D; 2:218429353-218429353

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.502C>A; p.L168M; 2:218428272-218428272

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.810C>T; p.V270V; 2:218429636-218429636

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.498C>T; p.F166F; 2:218428268-218428268

 skinmalignant_melanomaSubstitution - coding silent

c.724G>A; p.D242N; 2:218429441-218429441

 breastcarcinomaSubstitution - Missense

c.498C>T; p.F166F; 2:218428268-218428268

 skinmalignant_melanomaSubstitution - coding silent

c.2250G>A; p.V750V; 2:218440742-218440742

 skinmalignant_melanomaSubstitution - coding silent

c.498C>T; p.F166F; 2:218428268-218428268

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.954C>T; p.F318F; 2:218430730-218430730

 skinmalignant_melanomaSubstitution - coding silent

c.2065C>A; p.R689S; 2:218437217-218437217

 breastcarcinomaSubstitution - Missense

c.715G>A; p.A239T; 2:218429432-218429432

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1211G>A; p.R404H; 2:218432053-218432053

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.850G>A; p.D284N; 2:218429849-218429849

 skinmalignant_melanomaSubstitution - Missense

c.2313G>A; p.Q771Q; 2:218440805-218440805

 breastcarcinomaSubstitution - coding silent

c.2356C>T; p.P786S; 2:218440848-218440848

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1573G>A; p.A525T; 2:218434598-218434598

 central_nervous_system; braingliomaSubstitution - Missense

c.1533C>T; p.T511T; 2:218434558-218434558

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1543A>G; p.T515A; 2:218434568-218434568

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.471G>A; p.W157*; 2:218428241-218428241

 skinmalignant_melanomaSubstitution - Nonsense

c.2402C>A; p.A801D; 2:218449254-218449254

 skinmalignant_melanomaSubstitution - Missense

c.17C>T; p.A6V; 2:218423795-218423795

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1389C>T; p.A463A; 2:218432840-218432840

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1389C>T; p.A463A; 2:218432840-218432840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1360G>A; p.D454N; 2:218432811-218432811

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.489G>A; p.G163G; 2:218428259-218428259

 skinmalignant_melanomaSubstitution - coding silent

c.627C>T; p.G209G; 2:218429344-218429344

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1273G>A; p.D425N; 2:218432115-218432115

 central_nervous_system; braingliomaSubstitution - Missense

c.1605G>A; p.A535A; 2:218434630-218434630

 thyroidcarcinomaSubstitution - coding silent

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