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

Basic Information

Gene ID

114757

Name

CYGB

Synonymous

cytoglobin;CYGB;cytoglobin

Definition

histoglobin|stellate cell activation-associated protein

Position

17q25

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 0.00.

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.310T>A; p.S104T; 17:76531525-76531525

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.565G>A; p.G189R; 17:76528586-76528586

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.180C>T; p.F60F; 17:76531655-76531655

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.180C>T; p.F60F; 17:76531655-76531655

 breastcarcinomaSubstitution - coding silent

c.225C>A; p.S75R; 17:76531610-76531610

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.406G>A; p.A136T; 17:76531112-76531112

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.567G>T; p.G189G; 17:76528584-76528584

 livercarcinomaSubstitution - coding silent

c.567G>T; p.G189G; 17:76528584-76528584

 livercarcinomaSubstitution - coding silent

c.34C>T; p.R12C; 17:76537509-76537509

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.410A>C; p.E137A; 17:76531108-76531108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.413A>G; p.E138G; 17:76531105-76531105

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.235C>T; p.R79W; 17:76531600-76531600

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.464G>A; p.R155H; 17:76531054-76531054

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.340G>A; p.A114T; 17:76531495-76531495

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.143G>T; p.R48M; 17:76537400-76537400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.471C>T; p.L157L; 17:76531047-76531047

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.471C>T; p.L157L; 17:76531047-76531047

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.347A>C; p.K116T; 17:76531488-76531488

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.478A>C; p.S160R; 17:76531040-76531040

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.478A>C; p.S160R; 17:76531040-76531040

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.288G>T; p.L96L; 17:76531547-76531547

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.531C>T; p.N177N; 17:76530987-76530987

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.64G>A; p.A22T; 17:76537479-76537479

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.64G>A; p.A22T; 17:76537479-76537479

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.64G>A; p.A22T; 17:76537479-76537479

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.570G>A; p.P190P; 17:76528581-76528581

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.196A>G; p.M66V; 17:76531639-76531639

 livercarcinomaSubstitution - Missense

c.196A>G; p.M66V; 17:76531639-76531639

 livercarcinomaSubstitution - Missense

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