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

Basic Information

Gene ID

6288

Name

SAA1

Synonymous

serum amyloid A1;SAA1;serum amyloid A1

Definition

serum amyloid A protein|serum amyloid A-1 protein|tumor protein p53 inducible protein 4

Position

11p15.1

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 0.17.

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.162delC; p.H55fs*21; 11:18269265-18269265

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.295G>A; p.A99T; 11:18269781-18269781

 skinmalignant_melanomaSubstitution - Missense

c.121G>A; p.D41N; 11:18269224-18269224

 skinmalignant_melanomaSubstitution - Missense

c.299C>T; p.A100V; 11:18269785-18269785

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.74T>A; p.L25H; 11:18266961-18266961

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.68C>T; p.S23L; 11:18266955-18266955

 skinmalignant_melanomaSubstitution - Missense

c.68C>T; p.S23L; 11:18266955-18266955

 skinmalignant_melanomaSubstitution - Missense

c.68C>T; p.S23L; 11:18266955-18266955

 skinmalignant_melanomaSubstitution - Missense

c.282G>A; p.S94S; 11:18269768-18269768

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.308G>A; p.W103*; 11:18269794-18269794

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 thyroidother; neoplasmSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 11:18269327-18269327

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.63C>A; p.F21L; 11:18266950-18266950

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.38T>C; p.V13A; 11:18266925-18266925

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>C; p.D109H; 11:18269811-18269811

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216T>C; p.A72A; 11:18269319-18269319

 breastcarcinomaSubstitution - coding silent

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216T>C; p.A72A; 11:18269319-18269319

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216T>C; p.A72A; 11:18269319-18269319

 thyroidother; neoplasmSubstitution - coding silent

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230C>G; p.T77S; 11:18269333-18269333

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.239G>A; p.R80K; 11:18269725-18269725

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.288T>C; p.A96A; 11:18269774-18269774

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 thyroidother; neoplasmSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.209C>T; p.A70V; 11:18269312-18269312

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.249C>T; p.I83I; 11:18269735-18269735

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.273G>A; p.A91A; 11:18269759-18269759

 bone; ribchondrosarcomaSubstitution - coding silent

c.79G>A; p.E27K; 11:18266966-18266966

 breastcarcinomaSubstitution - Missense

c.360G>T; p.E120D; 11:18269846-18269846

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.55C>T; p.R19*; 11:18266942-18266942

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.258C>A; p.F86L; 11:18269744-18269744

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.232G>A; p.D78N; 11:18269718-18269718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.42G>A; p.L14L; 11:18266929-18266929

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.43G>A; p.G15S; 11:18266930-18266930

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.350G>A; p.G117D; 11:18269836-18269836

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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