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

Basic Information

Gene ID

114907

Name

FBXO32

Synonymous

F-box protein 32;FBXO32;F-box protein 32

Definition

F-box only protein 32|atrogin 1|atrogin-1|muscle atrophy F-box protein

Position

8q24.13

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 0.10.

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.111C>T; p.L37L; 8:123540904-123540904

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.702G>A; p.L234L; 8:123506524-123506524

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.108C>T; p.D36D; 8:123540907-123540907

 skinmalignant_melanomaSubstitution - coding silent

c.181G>A; p.A61T; 8:123534750-123534750

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.741C>A; p.V247V; 8:123506485-123506485

 breastcarcinomaSubstitution - coding silent

c.781G>T; p.E261*; 8:123506445-123506445

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.327C>G; p.F109L; 8:123531943-123531943

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.212G>C; p.S71T; 8:123534719-123534719

 breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.280C>T; p.R94C; 8:123531990-123531990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.407C>T; p.S136F; 8:123514299-123514299

 skin; armmalignant_melanomaSubstitution - Missense

c.35G>T; p.G12V; 8:123540980-123540980

 ovaryother; neoplasmSubstitution - Missense

c.246_247insA; p.W83fs*10; 8:123533223-123533224

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.595C>T; p.R199W; 8:123513254-123513254

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.102G>A; p.V34V; 8:123540913-123540913

 lungcarcinoma; undifferentiated_carcinomaSubstitution - coding silent

c.147G>T; p.E49D; 8:123534784-123534784

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.392A>G; p.K131R; 8:123514314-123514314

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.170A>G; p.Y57C; 8:123534761-123534761

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.707T>C; p.I236T; 8:123506519-123506519

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.673T>C; p.F225L; 8:123506553-123506553

 skinmalignant_melanomaSubstitution - Missense

c.210T>C; p.N70N; 8:123534721-123534721

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.99C>T; p.F33F; 8:123540916-123540916

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1061A>C; p.K354T; 8:123503380-123503380

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.364G>A; p.V122M; 8:123531906-123531906

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.642G>C; p.Q214H; 8:123513207-123513207

 breastcarcinomaSubstitution - Missense

c.552C>T; p.V184V; 8:123513297-123513297

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.730C>T; p.R244W; 8:123506496-123506496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.937A>G; p.T313A; 8:123504645-123504645

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.G139S; 8:123514291-123514291

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.677C>A; p.T226N; 8:123506549-123506549

 livercarcinomaSubstitution - Missense

c.467-1G>A; p.?; 8:123513383-123513383

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.728G>A; p.G243E; 8:123506498-123506498

 skinmalignant_melanomaSubstitution - Missense

c.418A>G; p.I140V; 8:123514288-123514288

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324C>T; p.D108D; 8:123531946-123531946

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.324C>T; p.D108D; 8:123531946-123531946

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.853C>A; p.L285M; 8:123504729-123504729

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.120C>A; p.Y40*; 8:123534811-123534811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.228G>T; p.Q76H; 8:123534703-123534703

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.763G>T; p.D255Y; 8:123506463-123506463

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.593A>G; p.Y198C; 8:123513256-123513256

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.830G>A; p.R277Q; 8:123506396-123506396

 pancreascarcinomaSubstitution - Missense

c.408C>T; p.S136S; 8:123514298-123514298

 skin; armmalignant_melanomaSubstitution - coding silent

c.178G>A; p.A60T; 8:123534753-123534753

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.934G>C; p.D312H; 8:123504648-123504648

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.372+1G>T; p.?; 8:123531897-123531897

 stomachcarcinoma; adenocarcinomaUnknown

c.927G>C; p.Q309H; 8:123504655-123504655

 central_nervous_system; braingliomaSubstitution - Missense

c.927G>C; p.Q309H; 8:123504655-123504655

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.429G>T; p.K143N; 8:123514277-123514277

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1046T>C; p.F349S; 8:123503395-123503395

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.606G>A; p.T202T; 8:123513243-123513243

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.390A>G; p.A130A; 8:123514316-123514316

 breastcarcinomaSubstitution - coding silent

c.642G>T; p.Q214H; 8:123513207-123513207

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.417C>T; p.G139G; 8:123514289-123514289

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.340C>G; p.L114V; 8:123531930-123531930

 breastcarcinomaSubstitution - Missense

c.980G>T; p.G327V; 8:123503461-123503461

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.342G>C; p.L114L; 8:123531928-123531928

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.10C>T; p.L4F; 8:123541005-123541005

 skinmalignant_melanomaSubstitution - Missense

c.1013A>G; p.E338G; 8:123503428-123503428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.610C>A; p.L204I; 8:123513239-123513239

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.G222S; 8:123506562-123506562

 skinmalignant_melanomaSubstitution - Missense

c.1014G>A; p.E338E; 8:123503427-123503427

 skinmalignant_melanomaSubstitution - coding silent

c.521A>G; p.Y174C; 8:123513328-123513328

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.75C>T; p.F25F; 8:123540940-123540940

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.12C>T; p.L4L; 8:123541003-123541003

 skinmalignant_melanomaSubstitution - coding silent

c.84G>C; p.E28D; 8:123540931-123540931

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.84G>C; p.E28D; 8:123540931-123540931

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.335C>T; p.A112V; 8:123531935-123531935

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.421G>A; p.A141T; 8:123514285-123514285

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.421G>A; p.A141T; 8:123514285-123514285

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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