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

Basic Information

Gene ID

286319

Name

TUSC1

Synonymous

tumor suppressor candidate 1;TUSC1;tumor suppressor candidate 1

Definition

tumor suppressor candidate gene 1 protein

Position

9p21.2

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

Top

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

Top

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

Top

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

Top

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.424G>T; p.A142S; 9:25677898-25677898

 livercarcinomaSubstitution - Missense

c.614C>T; p.S205L; 9:25677708-25677708

 livercarcinomaSubstitution - Missense

c.614C>T; p.S205L; 9:25677708-25677708

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.214C>G; p.H72D; 9:25678108-25678108

 livercarcinomaSubstitution - Missense

c.214C>G; p.H72D; 9:25678108-25678108

 livercarcinomaSubstitution - Missense

c.198C>G; p.A66A; 9:25678124-25678124

 thyroidother; neoplasmSubstitution - coding silent

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.N123D; 9:25677955-25677955

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.142_143insGCG; p.G47_V48insG; 9:25678179-25678180

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningInsertion - In frame

c.509G>A; p.R170Q; 9:25677813-25677813

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.188A>C; p.E63A; 9:25678134-25678134

 thyroidcarcinoma; medullary_carcinomaSubstitution - Missense

c.220G>T; p.E74*; 9:25678102-25678102

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.605C>T; p.S202F; 9:25677717-25677717

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.510G>A; p.R170R; 9:25677812-25677812

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.380C>T; p.A127V; 9:25677942-25677942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.440G>T; p.R147L; 9:25677882-25677882

 livercarcinomaSubstitution - Missense

c.387A>G; p.A129A; 9:25677935-25677935

 thyroidother; neoplasmSubstitution - coding silent

c.387A>G; p.A129A; 9:25677935-25677935

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.387A>G; p.A129A; 9:25677935-25677935

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.387A>G; p.A129A; 9:25677935-25677935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.387A>G; p.A129A; 9:25677935-25677935

 thyroidother; neoplasmSubstitution - coding silent

c.387A>G; p.A129A; 9:25677935-25677935

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.387A>G; p.A129A; 9:25677935-25677935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.622T>G; p.S208A; 9:25677700-25677700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.622T>G; p.S208A; 9:25677700-25677700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.622T>G; p.S208A; 9:25677700-25677700

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.622T>G; p.S208A; 9:25677700-25677700

 thyroidother; neoplasmSubstitution - Missense

c.622T>G; p.S208A; 9:25677700-25677700

 thyroidother; neoplasmSubstitution - Missense

c.335G>A; p.R112H; 9:25677987-25677987

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

')