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

Basic Information

Gene ID

94241

Name

TP53INP1

Synonymous

tumor protein p53 inducible nuclear protein 1;TP53INP1;tumor protein p53 inducible nuclear protein 1

Definition

p53-dependent damage-inducible nuclear protein 1|p53-inducible p53DINP1|stress-induced protein|tumor protein p53-inducible nuclear protein 1

Position

8q22

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 0.12.

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.150A>G; p.E50E; 8:94940183-94940183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.150A>G; p.E50E; 8:94940183-94940183

 breastcarcinomaSubstitution - coding silent

c.681C>A; p.G227G; 8:94930521-94930521

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.681C>A; p.G227G; 8:94930521-94930521

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.416C>A; p.P139H; 8:94939917-94939917

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.196T>C; p.F66L; 8:94940137-94940137

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.181G>A; p.E61K; 8:94940152-94940152

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.276G>T; p.M92I; 8:94940057-94940057

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.189T>C; p.P63P; 8:94940144-94940144

 skinmalignant_melanomaSubstitution - coding silent

c.621T>G; p.N207K; 8:94930581-94930581

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.257A>G; p.Q86R; 8:94940076-94940076

 livercarcinomaSubstitution - Missense

c.257A>G; p.Q86R; 8:94940076-94940076

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.150_152delAGA; p.E52delE; 8:94940181-94940183

 skinmalignant_melanomaDeletion - In frame

c.150_152delAGA; p.E52delE; 8:94940181-94940183

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - In frame

c.150_152delAGA; p.E52delE; 8:94940181-94940183

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.150_152delAGA; p.E52delE; 8:94940181-94940183

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.718T>A; p.Y240N; 8:94930484-94930484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.606G>T; p.Q202H; 8:94930596-94930596

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.137A>C; p.E46A; 8:94940196-94940196

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.605A>G; p.Q202R; 8:94930597-94930597

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.490G>A; p.E164K; 8:94930712-94930712

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.211G>A; p.A71T; 8:94940122-94940122

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.73G>C; p.E25Q; 8:94940869-94940869

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.139G>A; p.E47K; 8:94940194-94940194

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.628C>T; p.R210C; 8:94930574-94930574

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654C>T; p.C218C; 8:94930548-94930548

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.654C>T; p.C218C; 8:94930548-94930548

 prostatecarcinomaSubstitution - coding silent

c.461C>A; p.P154Q; 8:94939872-94939872

 skinmalignant_melanomaSubstitution - Missense

c.649G>A; p.D217N; 8:94930553-94930553

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.301C>T; p.P101S; 8:94940032-94940032

 thyroidcarcinomaSubstitution - Missense

c.389C>G; p.S130C; 8:94939944-94939944

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.256C>T; p.Q86*; 8:94940077-94940077

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.589G>T; p.E197*; 8:94930613-94930613

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.69C>A; p.F23L; 8:94940873-94940873

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.256C>G; p.Q86E; 8:94940077-94940077

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.629G>A; p.R210H; 8:94930573-94930573

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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