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

Basic Information

Gene ID

822

Name

CAPG

Synonymous

capping protein (actin filament), gelsolin-like;CAPG;capping protein (actin filament), gelsolin-like

Definition

actin regulatory protein CAP-G|actin-regulatory protein CAP-G|epididymis secretory protein Li 66|gelsolin-like capping protein|macrophage capping protein|macrophage-capping protein

Position

2p11.2

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

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

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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 0.13.

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.955C>T; p.R319C; 2:85395564-85395564

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.545_546CC>TT; p.S182F; 2:85399256-85399257

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.68_69insT; p.W24fs*50; 2:85401912-85401913

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.133G>T; p.G45W; 2:85401848-85401848

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1008G>T; p.E336D; 2:85394932-85394932

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1008G>T; p.E336D; 2:85394932-85394932

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.188T>G; p.L63R; 2:85401793-85401793

 skinmalignant_melanomaSubstitution - Missense

c.967G>A; p.A323T; 2:85395552-85395552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.289G>T; p.E97*; 2:85401591-85401591

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.234C>G; p.A78A; 2:85401646-85401646

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.646G>A; p.E216K; 2:85399156-85399156

 fallopian_tubecarcinoma; serous_carcinomaSubstitution - Missense

c.105G>A; p.A35A; 2:85401876-85401876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.494G>T; p.C165F; 2:85401187-85401187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.940G>A; p.E314K; 2:85395579-85395579

 oesophaguscarcinomaSubstitution - Missense

c.77T>G; p.V26G; 2:85401904-85401904

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.452C>T; p.T151I; 2:85401229-85401229

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.514C>A; p.Q172K; 2:85401167-85401167

 livercarcinomaSubstitution - Missense

c.514C>A; p.Q172K; 2:85401167-85401167

 livercarcinomaSubstitution - Missense

c.935T>G; p.V312G; 2:85395584-85395584

 breastcarcinomaSubstitution - Missense

c.971C>T; p.P324L; 2:85395548-85395548

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 2:85402145-85402145

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.29C>T; p.S10F; 2:85401952-85401952

 livercarcinomaSubstitution - Missense

c.29C>T; p.S10F; 2:85401952-85401952

 livercarcinomaSubstitution - Missense

c.132G>A; p.S44S; 2:85401849-85401849

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.132G>C; p.S44S; 2:85401849-85401849

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - coding silent

c.132G>C; p.S44S; 2:85401849-85401849

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.903G>A; p.A301A; 2:85395616-85395616

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.557A>G; p.E186G; 2:85399245-85399245

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.841G>A; p.D281N; 2:85398071-85398071

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.971C>A; p.P324Q; 2:85395548-85395548

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.528C>T; p.A176A; 2:85399274-85399274

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.802G>A; p.D268N; 2:85398110-85398110

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.58G>A; p.G20S; 2:85401923-85401923

 breastcarcinomaSubstitution - Missense

c.58G>A; p.G20S; 2:85401923-85401923

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.942G>C; p.E314D; 2:85395577-85395577

 livercarcinomaSubstitution - Missense

c.942G>C; p.E314D; 2:85395577-85395577

 livercarcinomaSubstitution - Missense

c.809G>T; p.S270I; 2:85398103-85398103

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.363G>A; p.V121V; 2:85401318-85401318

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.498C>T; p.F166F; 2:85401183-85401183

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.202C>T; p.Q68*; 2:85401678-85401678

 large_intestine; coloncarcinomaSubstitution - Nonsense

c.202C>T; p.Q68*; 2:85401678-85401678

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.838G>A; p.D280N; 2:85398074-85398074

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.873C>A; p.G291G; 2:85398039-85398039

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.896G>A; p.R299Q; 2:85395623-85395623

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.469T>C; p.W157R; 2:85401212-85401212

 pancreascarcinomaSubstitution - Missense

c.457C>T; p.R153W; 2:85401224-85401224

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.745G>A; p.A249T; 2:85398704-85398704

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.121G>A; p.V41I; 2:85401860-85401860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.364G>C; p.E122Q; 2:85401317-85401317

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.417C>G; p.L139L; 2:85401264-85401264

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.394G>A; p.A132T; 2:85401287-85401287

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1046G>A; p.*349*; 2:85394894-85394894

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.181C>G; p.L61V; 2:85401800-85401800

 breastcarcinomaSubstitution - Missense

c.258G>A; p.T86T; 2:85401622-85401622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.136G>T; p.D46Y; 2:85401845-85401845

 skinmalignant_melanomaSubstitution - Missense

c.599G>A; p.S200N; 2:85399203-85399203

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.813A>C; p.P271P; 2:85398099-85398099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.881A>G; p.Y294C; 2:85398031-85398031

 livercarcinomaSubstitution - Missense

c.430G>A; p.G144R; 2:85401251-85401251

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.895C>T; p.R299*; 2:85395624-85395624

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.73C>T; p.R25W; 2:85401908-85401908

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.595G>T; p.D199Y; 2:85399207-85399207

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.73C>T; p.R25W; 2:85401908-85401908

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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