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

Basic Information

Gene ID

27022

Name

FOXD3

Synonymous

forkhead box D3;FOXD3;forkhead box D3

Definition

HNF3/FH transcription factor genesis|forkhead box protein D3

Position

1p31.3

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 0.00.

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.625C>A; p.P209T; 1:63323683-63323683

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.495C>G; p.S165R; 1:63323553-63323553

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.434C>G; p.S145W; 1:63323492-63323492

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.744G>T; p.Q248H; 1:63323802-63323802

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.568C>T; p.R190C; 1:63323626-63323626

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.L164L; 1:63323548-63323548

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.544T>G; p.F182V; 1:63323602-63323602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1191C>T; p.G397G; 1:63324249-63324249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.562A>C; p.S188R; 1:63323620-63323620

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.222C>A; p.P74P; 1:63323280-63323280

 thyroidother; neoplasmSubstitution - coding silent

c.222C>A; p.P74P; 1:63323280-63323280

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.222C>A; p.P74P; 1:63323280-63323280

 thyroidother; neoplasmSubstitution - coding silent

c.151C>T; p.P51S; 1:63323209-63323209

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.435G>A; p.S145S; 1:63323493-63323493

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.754A>G; p.M252V; 1:63323812-63323812

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1405_1406insC; p.A470fs*>10; 1:63324463-63324464

 skinmalignant_melanomaInsertion - Frameshift

c.378G>T; p.S126S; 1:63323436-63323436

 ovaryother; neoplasmSubstitution - coding silent

c.806G>T; p.G269V; 1:63323864-63323864

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.694C>A; p.R232R; 1:63323752-63323752

 pancreascarcinomaSubstitution - coding silent

c.477G>A; p.Q159Q; 1:63323535-63323535

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.477G>A; p.Q159Q; 1:63323535-63323535

 breastcarcinomaSubstitution - coding silent

c.76G>A; p.D26N; 1:63323134-63323134

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.536G>A; p.R179K; 1:63323594-63323594

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.88G>A; p.E30K; 1:63323146-63323146

 breastcarcinomaSubstitution - Missense

c.364G>A; p.A122T; 1:63323422-63323422

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.379G>A; p.A127T; 1:63323437-63323437

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1239G>A; p.A413A; 1:63324297-63324297

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.132C>T; p.C44C; 1:63323190-63323190

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.769G>A; p.G257S; 1:63323827-63323827

 pancreascarcinomaSubstitution - Missense

c.141C>T; p.P47P; 1:63323199-63323199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.762G>C; p.Q254H; 1:63323820-63323820

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.396G>A; p.P132P; 1:63323454-63323454

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.500T>A; p.I167N; 1:63323558-63323558

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.377C>T; p.S126L; 1:63323435-63323435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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