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

Basic Information

Gene ID

1191

Name

CLU

Synonymous

clusterin;CLU;clusterin

Definition

aging-associated protein 4|apolipoprotein J|complement cytolysis inhibitor|complement lysis inhibitor|complement-associated protein SP-40,40|ku70-binding protein 1|sulfated glycoprotein 2|testosterone-repressed prostate message 2

Position

8p21-p12

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 0.05.

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.1490delA; p.K497fs*>5; 8:27598466-27598466

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1322T>C; p.V441A; 8:27598634-27598634

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1401C>T; p.I467I; 8:27598555-27598555

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.849C>G; p.P283P; 8:27605060-27605060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1439C>A; p.P480H; 8:27598517-27598517

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1413C>T; p.V471V; 8:27598543-27598543

 skinmalignant_melanomaSubstitution - coding silent

c.1329C>T; p.S443S; 8:27598627-27598627

 skinmalignant_melanomaSubstitution - coding silent

c.1294G>A; p.D432N; 8:27599806-27599806

 skinmalignant_melanomaSubstitution - Missense

c.978C>T; p.F326F; 8:27604931-27604931

 skinmalignant_melanomaSubstitution - coding silent

c.861C>T; p.Y287Y; 8:27605048-27605048

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.818C>T; p.P273L; 8:27605091-27605091

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.186G>A; p.G62G; 8:27610542-27610542

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.802C>A; p.P268T; 8:27605107-27605107

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1291G>A; p.E431K; 8:27599809-27599809

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1145C>A; p.S382Y; 8:27599955-27599955

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.729C>T; p.F243F; 8:27605180-27605180

 skinmalignant_melanomaSubstitution - coding silent

c.526T>A; p.F176I; 8:27606401-27606401

 skinmalignant_melanomaSubstitution - Missense

c.801G>A; p.R267R; 8:27605108-27605108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1351C>T; p.P451S; 8:27598605-27598605

 skinmalignant_melanomaSubstitution - Missense

c.702C>T; p.R234R; 8:27605207-27605207

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.741C>A; p.F247L; 8:27605168-27605168

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1141G>A; p.E381K; 8:27599959-27599959

 skinmalignant_melanomaSubstitution - Missense

c.1141G>A; p.E381K; 8:27599959-27599959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.824C>T; p.S275F; 8:27605085-27605085

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.352G>A; p.E118K; 8:27608988-27608988

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>T; p.S366S; 8:27600002-27600002

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1137C>T; p.L379L; 8:27599963-27599963

 skinmalignant_melanomaSubstitution - coding silent

c.1137C>T; p.L379L; 8:27599963-27599963

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.835C>T; p.R279C; 8:27605074-27605074

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.835C>T; p.R279C; 8:27605074-27605074

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.119C>T; p.P40L; 8:27614663-27614663

 pancreascarcinomaSubstitution - Missense

c.965C>T; p.P322L; 8:27604944-27604944

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.965C>T; p.P322L; 8:27604944-27604944

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.965C>T; p.P322L; 8:27604944-27604944

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.295C>A; p.Q99K; 8:27609045-27609045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1035G>A; p.T345T; 8:27604346-27604346

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.466G>A; p.E156K; 8:27606461-27606461

 skinmalignant_melanomaSubstitution - Missense

c.409C>A; p.L137I; 8:27606518-27606518

 skinmalignant_melanomaSubstitution - Missense

c.856C>A; p.P286T; 8:27605053-27605053

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.139G>T; p.D47Y; 8:27610589-27610589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.232G>A; p.V78I; 8:27610496-27610496

 skinmalignant_melanomaSubstitution - Missense

c.827G>A; p.R276H; 8:27605082-27605082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.827G>A; p.R276H; 8:27605082-27605082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.110A>G; p.H37R; 8:27614672-27614672

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1484G>A; p.R495H; 8:27598472-27598472

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.313G>T; p.V105L; 8:27609027-27609027

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1469C>T; p.A490V; 8:27598487-27598487

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1284G>A; p.T428T; 8:27599816-27599816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1284G>A; p.T428T; 8:27599816-27599816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.991G>C; p.D331H; 8:27604390-27604390

 skinmalignant_melanomaSubstitution - Missense

c.1018A>G; p.I340V; 8:27604363-27604363

 breastcarcinomaSubstitution - Missense

c.748C>T; p.R250W; 8:27605161-27605161

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.748C>T; p.R250W; 8:27605161-27605161

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1294G>C; p.D432H; 8:27599806-27599806

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.655C>A; p.R219R; 8:27605254-27605254

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.588G>A; p.L196L; 8:27605321-27605321

 skinmalignant_melanomaSubstitution - coding silent

c.744C>T; p.F248F; 8:27605165-27605165

 skinmalignant_melanomaSubstitution - coding silent

c.231G>T; p.T77T; 8:27610497-27610497

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.744C>T; p.F248F; 8:27605165-27605165

 skinmalignant_melanomaSubstitution - coding silent

c.1197C>T; p.S399S; 8:27599903-27599903

 skinmalignant_melanomaSubstitution - coding silent

c.858G>A; p.P286P; 8:27605051-27605051

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.858G>A; p.P286P; 8:27605051-27605051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1267C>T; p.R423W; 8:27599833-27599833

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1495C>T; p.R499W; 8:27598461-27598461

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1495C>T; p.R499W; 8:27598461-27598461

 skinmalignant_melanomaSubstitution - Missense

c.537C>T; p.R179R; 8:27606390-27606390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.862G>A; p.E288K; 8:27605047-27605047

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.813C>T; p.F271F; 8:27605096-27605096

 skinmalignant_melanomaSubstitution - coding silent

c.1183G>A; p.E395K; 8:27599917-27599917

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1140C>T; p.D380D; 8:27599960-27599960

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1183G>A; p.E395K; 8:27599917-27599917

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1436A>C; p.N479T; 8:27598520-27598520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.143C>T; p.S48F; 8:27610585-27610585

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.256A>G; p.M86V; 8:27609084-27609084

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.647A>G; p.E216G; 8:27605262-27605262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1127G>A; p.R376Q; 8:27599973-27599973

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.994G>A; p.D332N; 8:27604387-27604387

 skinmalignant_melanomaSubstitution - Missense

c.898C>T; p.L300F; 8:27605011-27605011

 skinmalignant_melanomaSubstitution - Missense

c.1226C>T; p.S409F; 8:27599874-27599874

 skinmalignant_melanomaSubstitution - Missense

c.945T>C; p.H315H; 8:27604964-27604964

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.836G>A; p.R279H; 8:27605073-27605073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824C>A; p.S275Y; 8:27605085-27605085

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.343_344insA; p.T115fs*25; 8:27608996-27608997

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1445T>G; p.F482C; 8:27598511-27598511

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.932A>T; p.D311V; 8:27604977-27604977

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.522G>A; p.M174I; 8:27606405-27606405

 skinmalignant_melanomaSubstitution - Missense

c.1107C>A; p.N369K; 8:27599993-27599993

 thyroidother; neoplasmSubstitution - Missense

c.1476G>A; p.Q492Q; 8:27598480-27598480

 skinmalignant_melanomaSubstitution - coding silent

c.123G>A; p.L41L; 8:27614659-27614659

 livercarcinomaSubstitution - coding silent

c.721G>A; p.E241K; 8:27605188-27605188

 skinmalignant_melanomaSubstitution - Missense

c.828C>T; p.R276R; 8:27605081-27605081

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.921G>T; p.Q307H; 8:27604988-27604988

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.310G>A; p.G104R; 8:27609030-27609030

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.856C>T; p.P286S; 8:27605053-27605053

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.856C>T; p.P286S; 8:27605053-27605053

 skinmalignant_melanomaSubstitution - Missense

c.921G>T; p.Q307H; 8:27604988-27604988

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1465A>T; p.K489*; 8:27598491-27598491

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Nonsense

c.1420G>T; p.E474*; 8:27598536-27598536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1114C>T; p.Q372*; 8:27599986-27599986

 breastcarcinomaSubstitution - Nonsense

c.519C>T; p.C173C; 8:27606408-27606408

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.254A>G; p.E85G; 8:27609086-27609086

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.103_121del19; p.R35fs*1; 8:27614661-27614679

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.966G>A; p.P322P; 8:27604943-27604943

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.666G>A; p.T222T; 8:27605243-27605243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.666G>A; p.T222T; 8:27605243-27605243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.666G>A; p.T222T; 8:27605243-27605243

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1159G>A; p.E387K; 8:27599941-27599941

 kidneyother; neoplasmSubstitution - Missense

c.1470G>A; p.A490A; 8:27598486-27598486

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1370T>G; p.V457G; 8:27598586-27598586

 breastcarcinomaSubstitution - Missense

c.281T>C; p.V94A; 8:27609059-27609059

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.536G>A; p.R179H; 8:27606391-27606391

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.857C>T; p.P286L; 8:27605052-27605052

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.392A>T; p.K131M; 8:27608948-27608948

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417G>T; p.E139D; 8:27606510-27606510

 lungcarcinoma; adenocarcinomaSubstitution - Missense

')