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

Basic Information

Gene ID

10217

Name

CTDSPL

Synonymous

CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like;CTDSPL;CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like

Definition

CTD small phosphatase-like protein|CTDSP-like|NIF-like protein|NLI-interacting factor 1|RB protein serine phosphatase from chromosome 3|carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3|nuclear LIM interactor-interacting factor 1

Position

3p21.3

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 0.07.

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.79+2T>G; p.?; 3:37862280-37862280

 pancreascarcinoid-endocrine_tumourUnknown

c.637C>T; p.R213W; 3:37975826-37975826

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.765_767delCTT; p.F257delF; 3:37980801-37980803

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.744G>A; p.T248T; 3:37980780-37980780

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.709C>T; p.P237S; 3:37980745-37980745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.551G>A; p.R184H; 3:37975740-37975740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.445C>T; p.P149S; 3:37971425-37971425

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.763C>T; p.P255S; 3:37980799-37980799

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.763C>T; p.P255S; 3:37980799-37980799

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.408C>T; p.I136I; 3:37967864-37967864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.408C>T; p.I136I; 3:37967864-37967864

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.166G>C; p.E56Q; 3:37947143-37947143

 breastcarcinomaSubstitution - Missense

c.122G>T; p.S41I; 3:37947099-37947099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.424C>T; p.Q142*; 3:37967880-37967880

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.117C>T; p.S39S; 3:37947094-37947094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.340G>C; p.D114H; 3:37964643-37964643

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.371C>G; p.P124R; 3:37967827-37967827

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.681A>G; p.S227S; 3:37975870-37975870

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.226C>T; p.L76F; 3:37947203-37947203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.456C>T; p.D152D; 3:37971436-37971436

 pancreascarcinomaSubstitution - coding silent

c.737C>T; p.T246M; 3:37980773-37980773

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.152G>A; p.R51H; 3:37947129-37947129

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.211G>A; p.E71K; 3:37947188-37947188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.251T>C; p.V84A; 3:37957127-37957127

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415A>G; p.T139A; 3:37967871-37967871

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.462C>T; p.F154F; 3:37971442-37971442

 skinmalignant_melanomaSubstitution - coding silent

c.618G>T; p.K206N; 3:37975807-37975807

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.292G>A; p.E98K; 3:37964595-37964595

 breastcarcinomaSubstitution - Missense

c.138C>A; p.F46L; 3:37947115-37947115

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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