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

Basic Information

Gene ID

80319

Name

CXXC4

Synonymous

CXXC finger protein 4;CXXC4;CXXC finger protein 4

Definition

CXXC finger 4|CXXC-type zinc finger protein 4|Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)|inhibition of the Dvl and axin complex protein

Position

4q24

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

There is no record for CXXC4

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.339G>T; p.Q113H; 4:104490957-104490957

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.570C>T; p.S190S; 4:104472349-104472349

 breastcarcinomaSubstitution - coding silent

c.570C>T; p.S190S; 4:104472349-104472349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.556A>G; p.T186A; 4:104472363-104472363

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.168G>T; p.E56D; 4:104491128-104491128

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.7C>T; p.H3Y; 4:104491289-104491289

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.56C>G; p.P19R; 4:104491240-104491240

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.371G>A; p.G124E; 4:104490925-104490925

 central_nervous_system; braingliomaSubstitution - Missense

c.148T>C; p.C50R; 4:104491148-104491148

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.193G>T; p.G65W; 4:104491103-104491103

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.249C>G; p.I83M; 4:104491047-104491047

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.587G>A; p.W196*; 4:104472332-104472332

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.382G>A; p.G128R; 4:104490914-104490914

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.382G>A; p.G128R; 4:104490914-104490914

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.112A>T; p.R38*; 4:104491184-104491184

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.4C>T; p.H2Y; 4:104491292-104491292

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.330C>T; p.D110D; 4:104490966-104490966

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.71C>T; p.A24V; 4:104491225-104491225

 kidneyWilms_tumourSubstitution - Missense

c.107A>G; p.H36R; 4:104491189-104491189

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.432C>A; p.P144P; 4:104490864-104490864

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.59C>G; p.S20W; 4:104491237-104491237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298G>A; p.D100N; 4:104490998-104490998

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.358T>G; p.S120A; 4:104490938-104490938

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.278C>T; p.A93V; 4:104491018-104491018

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.450C>T; p.N150N; 4:104490846-104490846

 breastcarcinomaSubstitution - coding silent

c.249C>T; p.I83I; 4:104491047-104491047

 skinmalignant_melanomaSubstitution - coding silent

c.230C>T; p.S77L; 4:104491066-104491066

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.132C>T; p.C44C; 4:104491164-104491164

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.488G>T; p.G163V; 4:104490808-104490808

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.357_359delCTC; p.S123delS; 4:104490937-104490939

 NSmalignant_melanomaDeletion - In frame

c.568A>T; p.S190C; 4:104472351-104472351

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.189C>G; p.R63R; 4:104491107-104491107

 kidneyother; neoplasmSubstitution - coding silent

c.189C>G; p.R63R; 4:104491107-104491107

 pancreascarcinomaSubstitution - coding silent

c.63G>A; p.L21L; 4:104491233-104491233

 thyroidcarcinomaSubstitution - coding silent

c.577G>A; p.A193T; 4:104472342-104472342

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.479G>A; p.R160H; 4:104490817-104490817

 skinmalignant_melanomaSubstitution - Missense

c.479G>A; p.R160H; 4:104490817-104490817

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.183C>T; p.P61P; 4:104491113-104491113

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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