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

Basic Information

Gene ID

6273

Name

S100A2

Synonymous

S100 calcium binding protein A2;S100A2;S100 calcium binding protein A2

Definition

S100 calcium-binding protein A2|protein S100-A2

Position

1q21

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

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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 0.00.

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.260A>G; p.N87S; 1:153561473-153561473

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.260A>G; p.N87S; 1:153561473-153561473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.260A>G; p.N87S; 1:153561473-153561473

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.259A>G; p.N87D; 1:153561474-153561474

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.259A>G; p.N87D; 1:153561474-153561474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.259A>G; p.N87D; 1:153561474-153561474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.62G>A; p.C21Y; 1:153563813-153563813

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.41C>T; p.T14I; 1:153563834-153563834

 breastcarcinomaSubstitution - Missense

c.211G>A; p.D71N; 1:153561522-153561522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.73G>A; p.D25N; 1:153563802-153563802

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.261T>C; p.N87N; 1:153561472-153561472

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.189T>G; p.D63E; 1:153561544-153561544

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.89G>T; p.S30I; 1:153563786-153563786

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.49C>T; p.H17Y; 1:153563826-153563826

 skinmalignant_melanomaSubstitution - Missense

c.77A>C; p.K26T; 1:153563798-153563798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.77A>C; p.K26T; 1:153563798-153563798

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.142G>A; p.E48K; 1:153561591-153561591

 skinmalignant_melanomaSubstitution - Missense

c.220G>T; p.E74*; 1:153561513-153561513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.209T>G; p.V70G; 1:153561524-153561524

 breastcarcinomaSubstitution - Missense

c.72C>T; p.G24G; 1:153563803-153563803

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.241C>T; p.L81F; 1:153561492-153561492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.234C>T; p.F78F; 1:153561499-153561499

 skinmalignant_melanomaSubstitution - coding silent

c.59_61delCCT; p.S20delS; 1:153563814-153563816

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.76A>C; p.K26Q; 1:153563799-153563799

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.50A>C; p.H17P; 1:153563825-153563825

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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