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

Basic Information

Gene ID

8065

Name

CUL5

Synonymous

cullin 5;CUL5;cullin 5

Definition

CUL-5|Cullin-5 (vasopressin-activated calcium-mobilizing receptor-1)|Vasopressin-activated calcium-mobilizing receptor-1|cullin-5|vasopressin-activated calcium-mobilizing receptor 1

Position

11q22.3

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 0.04.

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.1602C>T; p.G534G; 11:108094846-108094846

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.734C>T; p.A245V; 11:108054909-108054909

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1602C>T; p.G534G; 11:108094846-108094846

 breastcarcinomaSubstitution - coding silent

c.1718G>A; p.W573*; 11:108094962-108094962

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.740G>A; p.R247H; 11:108054915-108054915

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.563G>T; p.C188F; 11:108054656-108054656

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.407G>A; p.R136Q; 11:108050062-108050062

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.739C>T; p.R247C; 11:108054914-108054914

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.G123G; 11:108050024-108050024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.331T>C; p.F111L; 11:108049986-108049986

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1005+1_1005+2insT; p.?; 11:108072463-108072464

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2221A>G; p.I741V; 11:108104262-108104262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1178+1G>T; p.?; 11:108078241-108078241

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaUnknown

c.917G>T; p.G306V; 11:108072374-108072374

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2181G>A; p.K727K; 11:108104222-108104222

 skinmalignant_melanomaSubstitution - coding silent

c.2181G>A; p.K727K; 11:108104222-108104222

 skinmalignant_melanomaSubstitution - coding silent

c.1672G>A; p.V558I; 11:108094916-108094916

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.874+1G>A; p.?; 11:108070190-108070190

 livercarcinoma; hepatocellular_carcinomaUnknown

c.679G>C; p.V227L; 11:108054772-108054772

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.560T>G; p.L187R; 11:108054653-108054653

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.220A>G; p.K74E; 11:108046355-108046355

 skinmalignant_melanomaSubstitution - Missense

c.1989T>C; p.G663G; 11:108097719-108097719

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.40C>T; p.Q14*; 11:108033817-108033817

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.411G>A; p.K137K; 11:108050066-108050066

 skinmalignant_melanomaSubstitution - coding silent

c.1533G>C; p.K511N; 11:108094480-108094480

 livercarcinomaSubstitution - Missense

c.910C>T; p.P304S; 11:108072367-108072367

 skinmalignant_melanomaSubstitution - Missense

c.1533G>C; p.K511N; 11:108094480-108094480

 livercarcinomaSubstitution - Missense

c.1451G>A; p.G484D; 11:108094398-108094398

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1790C>T; p.T597M; 11:108095576-108095576

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1706G>T; p.R569I; 11:108094950-108094950

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1243T>C; p.L415L; 11:108088591-108088591

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2104G>T; p.E702*; 11:108098485-108098485

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1876C>G; p.P626A; 11:108095662-108095662

 skinmalignant_melanomaSubstitution - Missense

c.2284G>A; p.E762K; 11:108104325-108104325

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1091G>T; p.R364L; 11:108073475-108073475

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1853A>C; p.N618T; 11:108095639-108095639

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1310T>C; p.V437A; 11:108088658-108088658

 skinmalignant_melanomaSubstitution - Missense

c.900G>A; p.M300I; 11:108072357-108072357

 livercarcinomaSubstitution - Missense

c.564T>C; p.C188C; 11:108054657-108054657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.C188C; 11:108054657-108054657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.C188C; 11:108054657-108054657

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.C188C; 11:108054657-108054657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.564T>C; p.C188C; 11:108054657-108054657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.344A>G; p.E115G; 11:108049999-108049999

 livercarcinomaSubstitution - Missense

c.2141G>A; p.R714K; 11:108098522-108098522

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2256G>C; p.M752I; 11:108104297-108104297

 breastcarcinomaSubstitution - Missense

c.1123G>C; p.A375P; 11:108078185-108078185

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2000C>T; p.S667L; 11:108097730-108097730

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.473G>C; p.S158T; 11:108052721-108052721

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.2066T>C; p.I689T; 11:108098447-108098447

 pancreascarcinomaSubstitution - Missense

c.633G>T; p.E211D; 11:108054726-108054726

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1674A>T; p.V558V; 11:108094918-108094918

 skinmalignant_melanomaSubstitution - coding silent

c.2018G>T; p.S673I; 11:108097748-108097748

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.571C>T; p.P191S; 11:108054664-108054664

 skinmalignant_melanomaSubstitution - Missense

c.6G>A; p.A2A; 11:108009354-108009354

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1403C>T; p.A468V; 11:108089583-108089583

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1577T>C; p.V526A; 11:108094821-108094821

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.478A>C; p.M160L; 11:108052726-108052726

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1311+2T>C; p.?; 11:108088661-108088661

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1891A>T; p.R631W; 11:108095677-108095677

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2132G>A; p.R711Q; 11:108098513-108098513

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.827C>G; p.T276S; 11:108070142-108070142

 pancreascarcinomaSubstitution - Missense

c.1960G>A; p.V654I; 11:108097690-108097690

 breastcarcinomaSubstitution - Missense

c.2057T>A; p.I686N; 11:108098438-108098438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1319T>C; p.V440A; 11:108089499-108089499

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1319T>C; p.V440A; 11:108089499-108089499

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.339A>G; p.Q113Q; 11:108049994-108049994

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2185A>G; p.I729V; 11:108104226-108104226

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.91C>T; p.R31C; 11:108033868-108033868

 livercarcinomaSubstitution - Missense

c.544G>T; p.E182*; 11:108052792-108052792

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.636_637insT; p.Y214fs*2; 11:108054729-108054730

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1934G>A; p.R645Q; 11:108097664-108097664

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1774G>T; p.D592Y; 11:108095560-108095560

 livercarcinomaSubstitution - Missense

c.1774G>T; p.D592Y; 11:108095560-108095560

 livercarcinomaSubstitution - Missense

c.188A>G; p.Q63R; 11:108046323-108046323

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2296A>C; p.I766L; 11:108104337-108104337

 livercarcinomaSubstitution - Missense

c.1091G>A; p.R364Q; 11:108073475-108073475

 breastcarcinomaSubstitution - Missense

c.2296A>C; p.I766L; 11:108104337-108104337

 livercarcinomaSubstitution - Missense

c.235-10delT; p.?; 11:108049880-108049880

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.772G>A; p.V258I; 11:108054947-108054947

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731G>A; p.R244Q; 11:108054906-108054906

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2316T>C; p.D772D; 11:108104357-108104357

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1220T>A; p.L407Q; 11:108088568-108088568

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1226C>T; p.A409V; 11:108088574-108088574

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2088A>T; p.T696T; 11:108098469-108098469

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.2088A>T; p.T696T; 11:108098469-108098469

 pancreascarcinomaSubstitution - coding silent

c.208C>G; p.L70V; 11:108046343-108046343

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.208C>G; p.L70V; 11:108046343-108046343

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.660G>A; p.S220S; 11:108054753-108054753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1195C>G; p.Q399E; 11:108088543-108088543

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.288A>G; p.E96E; 11:108049943-108049943

 kidneyother; neoplasmSubstitution - coding silent

c.521C>T; p.S174F; 11:108052769-108052769

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1776T>G; p.D592E; 11:108095562-108095562

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.771C>T; p.S257S; 11:108054946-108054946

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.375_376insA; p.S128fs*14; 11:108050030-108050031

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.138T>C; p.D46D; 11:108046273-108046273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.553G>A; p.V185I; 11:108052801-108052801

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.500G>C; p.R167T; 11:108052748-108052748

 pancreascarcinomaSubstitution - Missense

c.500G>C; p.R167T; 11:108052748-108052748

 pancreascarcinomaSubstitution - Missense

c.1755G>C; p.K585N; 11:108095541-108095541

 prostatecarcinomaSubstitution - Missense

c.1687delA; p.N565fs*18; 11:108094931-108094931

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1687delA; p.N565fs*18; 11:108094931-108094931

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1687delA; p.N565fs*18; 11:108094931-108094931

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1687delA; p.N565fs*18; 11:108094931-108094931

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1687delA; p.N565fs*18; 11:108094931-108094931

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1687delA; p.N565fs*18; 11:108094931-108094931

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1687delA; p.N565fs*18; 11:108094931-108094931

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.562T>C; p.C188R; 11:108054655-108054655

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.733G>C; p.A245P; 11:108054908-108054908

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1563A>G; p.L521L; 11:108094510-108094510

 breastcarcinomaSubstitution - coding silent

c.1515T>C; p.D505D; 11:108094462-108094462

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1515T>C; p.D505D; 11:108094462-108094462

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1836G>A; p.E612E; 11:108095622-108095622

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.426A>G; p.T142T; 11:108052674-108052674

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.324A>C; p.P108P; 11:108049979-108049979

 ovaryother; neoplasmSubstitution - coding silent

c.2163A>G; p.Q721Q; 11:108104204-108104204

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.615A>G; p.A205A; 11:108054708-108054708

 breastcarcinomaSubstitution - coding silent

c.1471A>G; p.N491D; 11:108094418-108094418

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.406C>T; p.R136*; 11:108050061-108050061

 skinmalignant_melanomaSubstitution - Nonsense

c.2127A>T; p.Q709H; 11:108098508-108098508

 livercarcinomaSubstitution - Missense

c.256G>A; p.D86N; 11:108049911-108049911

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.574G>A; p.E192K; 11:108054667-108054667

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.574G>A; p.E192K; 11:108054667-108054667

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.199G>T; p.E67*; 11:108046334-108046334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.300C>A; p.F100L; 11:108049955-108049955

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1700_1701GT>AG; p.S567K; 11:108094944-108094945

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.758G>A; p.R253Q; 11:108054933-108054933

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.729A>T; p.K243N; 11:108054904-108054904

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2233A>T; p.M745L; 11:108104274-108104274

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2233A>T; p.M745L; 11:108104274-108104274

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2056A>G; p.I686V; 11:108098437-108098437

 livercarcinomaSubstitution - Missense

c.2056A>G; p.I686V; 11:108098437-108098437

 livercarcinomaSubstitution - Missense

c.25-4delC; p.?; 11:108033798-108033798

 stomachadenocarcinomaUnknown

c.1127T>G; p.V376G; 11:108078189-108078189

 thyroidother; neoplasmSubstitution - Missense

c.1189A>C; p.K397Q; 11:108088537-108088537

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1189A>C; p.K397Q; 11:108088537-108088537

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1189A>C; p.K397Q; 11:108088537-108088537

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1957C>A; p.Q653K; 11:108097687-108097687

 pancreascarcinomaSubstitution - Missense

c.242T>C; p.L81P; 11:108049897-108049897

 pancreascarcinomaSubstitution - Missense

c.1381C>T; p.R461C; 11:108089561-108089561

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.421G>A; p.D141N; 11:108052669-108052669

 livercarcinomaSubstitution - Missense

c.421G>A; p.D141N; 11:108052669-108052669

 livercarcinomaSubstitution - Missense

c.1677A>G; p.E559E; 11:108094921-108094921

 breastcarcinomaSubstitution - coding silent

c.1644T>A; p.P548P; 11:108094888-108094888

 skinmalignant_melanomaSubstitution - coding silent

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