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

Basic Information

Gene ID

6688

Name

SPI1

Synonymous

Spi-1 proto-oncogene;SPI1;Spi-1 proto-oncogene

Definition

31 kDa transforming protein|31 kDa-transforming protein|hematopoietic transcription factor PU.1|spleen focus forming virus (SFFV) proviral integration oncogene spi1|transcription factor PU.1

Position

11p11.2

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

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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 0.09.

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.97C>A; p.L33I; 11:47375660-47375660

 pancreascarcinomaSubstitution - Missense

c.97C>A; p.L33I; 11:47375660-47375660

 skinmalignant_melanomaSubstitution - Missense

c.295C>T; p.P99S; 11:47359870-47359870

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.671G>C; p.R224P; 11:47355351-47355351

 pancreascarcinomaSubstitution - Missense

c.671G>C; p.R224P; 11:47355351-47355351

 pancreascarcinomaSubstitution - Missense

c.13C>T; p.P5S; 11:47378323-47378323

 skinmalignant_melanomaSubstitution - Missense

c.416T>C; p.V139A; 11:47358903-47358903

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.583T>C; p.F195L; 11:47355439-47355439

 breastcarcinomaSubstitution - Missense

c.134G>A; p.W45*; 11:47360031-47360031

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.741C>T; p.S247S; 11:47355281-47355281

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.3G>A; p.M1I; 11:47378333-47378333

 skinmalignant_melanomaSubstitution - Missense

c.56C>T; p.T19M; 11:47375701-47375701

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.37G>T; p.D13Y; 11:47375720-47375720

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.498G>T; p.L166L; 11:47355524-47355524

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.615C>T; p.H205H; 11:47355407-47355407

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.760G>A; p.G254R; 11:47355262-47355262

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.390C>T; p.G130G; 11:47358929-47358929

 thyroidcarcinomaSubstitution - coding silent

c.416T>G; p.V139G; 11:47358903-47358903

 pancreascarcinomaSubstitution - Missense

c.607C>A; p.L203M; 11:47355415-47355415

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.181G>A; p.E61K; 11:47359984-47359984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.353T>C; p.L118P; 11:47358966-47358966

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.99C>T; p.L33L; 11:47375658-47375658

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.279delC; p.M94fs*86; 11:47359886-47359886

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.639C>T; p.N213N; 11:47355383-47355383

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.181G>T; p.E61*; 11:47359984-47359984

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.601G>C; p.E201Q; 11:47355421-47355421

 livercarcinomaSubstitution - Missense

c.4G>A; p.E2K; 11:47378332-47378332

 skinmalignant_melanomaSubstitution - Missense

c.388G>A; p.G130S; 11:47358931-47358931

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.178G>A; p.A60T; 11:47359987-47359987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.E85K; 11:47359912-47359912

 livercarcinomaSubstitution - Missense

c.183G>T; p.E61D; 11:47359982-47359982

 breastcarcinomaSubstitution - Missense

c.412G>A; p.E138K; 11:47358907-47358907

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.78G>A; p.T26T; 11:47375679-47375679

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.374C>T; p.S125L; 11:47358945-47358945

 skinmalignant_melanomaSubstitution - Missense

c.720G>A; p.K240K; 11:47355302-47355302

 skinmalignant_melanomaSubstitution - coding silent

c.214_215CC>TT; p.P72F; 11:47359950-47359951

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.404C>T; p.P135L; 11:47358915-47358915

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.404C>T; p.P135L; 11:47358915-47358915

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.648G>A; p.K216K; 11:47355374-47355374

 skinmalignant_melanomaSubstitution - coding silent

c.41T>A; p.L14Q; 11:47375716-47375716

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.177C>T; p.F59F; 11:47359988-47359988

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.196G>A; p.E66K; 11:47359969-47359969

 skinmalignant_melanomaSubstitution - Missense

c.355T>C; p.S119P; 11:47358964-47358964

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.82G>A; p.E28K; 11:47375675-47375675

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82G>A; p.E28K; 11:47375675-47375675

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.427G>A; p.E143K; 11:47358892-47358892

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.282G>A; p.M94I; 11:47359883-47359883

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.19G>A; p.V7I; 11:47378317-47378317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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