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

Basic Information

Gene ID

51523

Name

CXXC5

Synonymous

CXXC finger protein 5;CXXC5;CXXC finger protein 5

Definition

CXXC finger 5 protein|CXXC-type zinc finger protein 5|WT1-induced Inhibitor of Dishevelled|putative MAPK-activating protein PM08|putative NF-kappa-B-activating protein 102|retinoid-inducible nuclear factor

Position

5q31.2

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

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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 0.20.

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.224G>A; p.R75H; 5:139680747-139680747

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.809G>A; p.R270Q; 5:139681332-139681332

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.925-5G>A; p.?; 5:139682858-139682858

 stomachadenocarcinomaUnknown

c.275G>A; p.G92D; 5:139680798-139680798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.825C>A; p.C275*; 5:139681348-139681348

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.207C>G; p.L69L; 5:139680730-139680730

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.933G>A; p.M311I; 5:139682871-139682871

 pancreascarcinomaSubstitution - Missense

c.63C>T; p.G21G; 5:139680586-139680586

 pancreascarcinomaSubstitution - coding silent

c.714G>A; p.A238A; 5:139681237-139681237

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.925-1G>A; p.?; 5:139682862-139682862

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.854A>G; p.K285R; 5:139681377-139681377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.854A>G; p.K285R; 5:139681377-139681377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.854A>G; p.K285R; 5:139681377-139681377

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.615G>A; p.Q205Q; 5:139681138-139681138

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.276_277insGGG; p.G94_S95insG; 5:139680799-139680800

 skinmalignant_melanomaInsertion - In frame

c.908C>T; p.P303L; 5:139681431-139681431

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.204C>T; p.P68P; 5:139680727-139680727

 skinmalignant_melanomaSubstitution - coding silent

c.163delC; p.E57fs*40; 5:139680686-139680686

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.163delC; p.E57fs*40; 5:139680686-139680686

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.467C>T; p.A156V; 5:139680990-139680990

 skinmalignant_melanomaSubstitution - Missense

c.320C>T; p.A107V; 5:139680843-139680843

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.803C>T; p.P268L; 5:139681326-139681326

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.885A>T; p.K295N; 5:139681408-139681408

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.542C>A; p.P181Q; 5:139681065-139681065

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.954C>T; p.F318F; 5:139682892-139682892

 oesophaguscarcinomaSubstitution - coding silent

c.693C>T; p.A231A; 5:139681216-139681216

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.224G>T; p.R75L; 5:139680747-139680747

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.693C>T; p.A231A; 5:139681216-139681216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.546G>T; p.L182L; 5:139681069-139681069

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.245A>G; p.Y82C; 5:139680768-139680768

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.31G>T; p.A11S; 5:139680554-139680554

 skinmalignant_melanomaSubstitution - Missense

c.707A>G; p.H236R; 5:139681230-139681230

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.892G>A; p.E298K; 5:139681415-139681415

 skinmalignant_melanomaSubstitution - Missense

c.949G>A; p.A317T; 5:139682887-139682887

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.821A>G; p.N274S; 5:139681344-139681344

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.669G>T; p.M223I; 5:139681192-139681192

 thyroidother; neoplasmSubstitution - Missense

c.766G>A; p.G256S; 5:139681289-139681289

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.240C>T; p.S80S; 5:139680763-139680763

 skinmalignant_melanomaSubstitution - coding silent

c.769_771delAAG; p.K259delK; 5:139681292-139681294

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.769_771delAAG; p.K259delK; 5:139681292-139681294

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.222C>T; p.R74R; 5:139680745-139680745

 skinmalignant_melanomaSubstitution - coding silent

c.53G>C; p.S18T; 5:139680576-139680576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.850C>T; p.R284*; 5:139681373-139681373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.850C>T; p.R284*; 5:139681373-139681373

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.338C>T; p.S113F; 5:139680861-139680861

 skinmalignant_melanomaSubstitution - Missense

c.234G>A; p.P78P; 5:139680757-139680757

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.234G>A; p.P78P; 5:139680757-139680757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.145G>A; p.V49M; 5:139680668-139680668

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.534G>A; p.E178E; 5:139681057-139681057

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.37_38GG>TT; p.G13F; 5:139680560-139680561

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.865C>T; p.Q289*; 5:139681388-139681388

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.865C>T; p.Q289*; 5:139681388-139681388

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.913G>A; p.A305T; 5:139681436-139681436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223C>T; p.R75C; 5:139680746-139680746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.166C>T; p.P56S; 5:139680689-139680689

 skinmalignant_melanomaSubstitution - Missense

c.189T>C; p.G63G; 5:139680712-139680712

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.378G>A; p.A126A; 5:139680901-139680901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.378G>A; p.A126A; 5:139680901-139680901

 breastcarcinomaSubstitution - coding silent

c.378G>A; p.A126A; 5:139680901-139680901

 breastcarcinomaSubstitution - coding silent

c.798C>T; p.C266C; 5:139681321-139681321

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.648C>T; p.I216I; 5:139681171-139681171

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.586G>A; p.V196M; 5:139681109-139681109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.956G>A; p.R319Q; 5:139682894-139682894

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.53G>T; p.S18I; 5:139680576-139680576

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.855G>A; p.K285K; 5:139681378-139681378

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.765C>T; p.S255S; 5:139681288-139681288

 skinmalignant_melanomaSubstitution - coding silent

c.898A>G; p.K300E; 5:139681421-139681421

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.750C>T; p.A250A; 5:139681273-139681273

 skinmalignant_melanomaSubstitution - coding silent

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