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

Basic Information

Gene ID

2296

Name

FOXC1

Synonymous

forkhead box C1;FOXC1;forkhead box C1

Definition

forkhead box C1 protein|forkhead box protein C1|forkhead, drosophila, homolog-like 7|forkhead-related activator 3|forkhead-related protein FKHL7|forkhead-related transcription factor 3|forkhead/winged helix-like transcription factor 7|myeloid factor-delta

Position

6p25

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 0.00.

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.1462_1467delGCGGCG; p.A494_A495delAA; 6:1611907-1611912

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.440G>T; p.G147V; 6:1610885-1610885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1077C>T; p.S359S; 6:1611522-1611522

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1457C>T; p.A486V; 6:1611902-1611902

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1454T>C; p.L485S; 6:1611899-1611899

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1661G>A; p.*554*; 6:1612106-1612106

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.534C>G; p.D178E; 6:1610979-1610979

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.404G>A; p.C135Y; 6:1610849-1610849

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.234G>T; p.K78N; 6:1610679-1610679

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.525G>A; p.K175K; 6:1610970-1610970

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.501C>T; p.F167F; 6:1610946-1610946

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.187G>A; p.A63T; 6:1610632-1610632

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1638C>T; p.F546F; 6:1612083-1612083

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.515G>A; p.R172Q; 6:1610960-1610960

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.403T>C; p.C135R; 6:1610848-1610848

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1621C>T; p.R541C; 6:1612066-1612066

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.441C>T; p.G147G; 6:1610886-1610886

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.469G>T; p.D157Y; 6:1610914-1610914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.258C>A; p.L86L; 6:1610703-1610703

 breastcarcinomaSubstitution - coding silent

c.458C>T; p.T153M; 6:1610903-1610903

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1595C>T; p.A532V; 6:1612040-1612040

 skinmalignant_melanomaSubstitution - Missense

c.1123_1124insGGC; p.G375_G376insR; 6:1611568-1611569

 biliary_tract; bile_ductcarcinoma; adenocarcinomaInsertion - In frame

c.474C>T; p.S158S; 6:1610919-1610919

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.218C>A; p.P73H; 6:1610663-1610663

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.327G>A; p.M109I; 6:1610772-1610772

 thyroidother; neoplasmSubstitution - Missense

c.513G>A; p.R171R; 6:1610958-1610958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.532G>A; p.D178N; 6:1610977-1610977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1020G>A; p.S340S; 6:1611465-1611465

 livercarcinomaSubstitution - coding silent

c.1020G>A; p.S340S; 6:1611465-1611465

 livercarcinomaSubstitution - coding silent

c.153G>A; p.A51A; 6:1610598-1610598

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.524A>C; p.K175T; 6:1610969-1610969

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.779C>T; p.P260L; 6:1611224-1611224

 NSmalignant_melanomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1600C>T; p.P534S; 6:1612045-1612045

 oesophaguscarcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1554G>T; p.L518F; 6:1611999-1611999

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.373A>G; p.S125G; 6:1610818-1610818

 breastcarcinomaSubstitution - Missense

c.503T>A; p.L168Q; 6:1610948-1610948

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.368A>C; p.Q123P; 6:1610813-1610813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.600G>C; p.Q200H; 6:1611045-1611045

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1122_1123insGGC; p.S374_G375insG; 6:1611567-1611568

 lungcarcinoma; adenocarcinomaInsertion - In frame

c.893_894delCC; p.S298fs*7; 6:1611338-1611339

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

')