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

Basic Information

Gene ID

91768

Name

CABLES1

Synonymous

Cdk5 and Abl enzyme substrate 1;CABLES1;Cdk5 and Abl enzyme substrate 1

Definition

CDK5 and ABL1 enzyme substrate 1|interactor with CDK3 1

Position

18q11.2

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

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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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

The copy number variations for various cancers

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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.1448C>A; p.T483K; 18:23252961-23252961

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.987G>A; p.R329R; 18:23194517-23194517

 thyroidcarcinomaSubstitution - coding silent

c.951G>T; p.K317N; 18:23194481-23194481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1318G>A; p.G440S; 18:23236027-23236027

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.913C>T; p.R305W; 18:23188905-23188905

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1355G>T; p.G452V; 18:23237154-23237154

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1403C>T; p.P468L; 18:23237202-23237202

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.847C>T; p.R283W; 18:23188839-23188839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1760A>G; p.D587G; 18:23253935-23253935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.938C>G; p.S313*; 18:23194468-23194468

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1498G>A; p.E500K; 18:23253011-23253011

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1564G>C; p.E522Q; 18:23253739-23253739

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.848G>A; p.R283Q; 18:23188840-23188840

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1070G>A; p.R357H; 18:23214036-23214036

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1815C>T; p.F605F; 18:23257280-23257280

 skinmalignant_melanomaSubstitution - coding silent

c.845+1G>T; p.?; 18:23136608-23136608

 lungcarcinoma; adenocarcinomaUnknown

c.1193C>T; p.S398F; 18:23235902-23235902

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1034G>T; p.R345I; 18:23214000-23214000

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.289_297delGGCGCCGGC; p.G99_A101delGGA; 18:23136051-23136059

 livercarcinomaDeletion - In frame

c.1645G>A; p.A549T; 18:23253820-23253820

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.295G>T; p.G99C; 18:23136057-23136057

 thyroidother; neoplasmSubstitution - Missense

c.1748A>G; p.K583R; 18:23253923-23253923

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1523A>G; p.H508R; 18:23253036-23253036

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1137G>A; p.L379L; 18:23234656-23234656

 pancreascarcinomaSubstitution - coding silent

c.800G>T; p.G267V; 18:23136562-23136562

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.923G>A; p.R308Q; 18:23194453-23194453

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.923G>A; p.R308Q; 18:23194453-23194453

 breastcarcinomaSubstitution - Missense

c.1117T>C; p.S373P; 18:23234636-23234636

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1839C>T; p.F613F; 18:23257304-23257304

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1741G>A; p.E581K; 18:23253916-23253916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.568G>T; p.A190S; 18:23136330-23136330

 livercarcinomaSubstitution - Missense

c.1207C>A; p.L403M; 18:23235916-23235916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.869C>T; p.S290F; 18:23188861-23188861

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1065G>A; p.P355P; 18:23214031-23214031

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.542_543insG; p.P182fs*118; 18:23136304-23136305

 prostatecarcinomaInsertion - Frameshift

c.1385T>C; p.L462S; 18:23237184-23237184

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1473C>T; p.P491P; 18:23252986-23252986

 skinmalignant_melanomaSubstitution - coding silent

c.1223C>T; p.A408V; 18:23235932-23235932

 skinmalignant_melanomaSubstitution - Missense

c.752C>T; p.A251V; 18:23136514-23136514

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1568T>C; p.M523T; 18:23253743-23253743

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1162G>C; p.V388L; 18:23234681-23234681

 thyroidother; neoplasmSubstitution - Missense

c.1182G>A; p.G394G; 18:23234701-23234701

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.882C>T; p.T294T; 18:23188874-23188874

 pancreascarcinomaSubstitution - coding silent

c.170T>C; p.M57T; 18:23135932-23135932

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064C>T; p.P355L; 18:23214030-23214030

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1639A>C; p.K547Q; 18:23253814-23253814

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064C>T; p.P355L; 18:23214030-23214030

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.667G>A; p.A223T; 18:23136429-23136429

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.784_794del11; p.S262fs*34; 18:23136546-23136556

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.1084G>A; p.V362I; 18:23214050-23214050

 bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1621G>A; p.A541T; 18:23253796-23253796

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1090G>A; p.D364N; 18:23234609-23234609

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.985C>T; p.R329W; 18:23194515-23194515

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.1860C>T; p.H620H; 18:23257325-23257325

 central_nervous_system; braingliomaSubstitution - coding silent

c.1860C>T; p.H620H; 18:23257325-23257325

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1025G>A; p.S342N; 18:23213991-23213991

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1234C>T; p.R412W; 18:23235943-23235943

 livercarcinomaSubstitution - Missense

c.1234C>T; p.R412W; 18:23235943-23235943

 livercarcinomaSubstitution - Missense

c.1134T>C; p.S378S; 18:23234653-23234653

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1580C>T; p.A527V; 18:23253755-23253755

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1238G>T; p.R413I; 18:23235947-23235947

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1893G>C; p.Q631H; 18:23257358-23257358

 breastcarcinomaSubstitution - Missense

c.1433T>C; p.F478S; 18:23237232-23237232

 breastcarcinomaSubstitution - Missense

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