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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