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

Basic Information

Gene ID

11068

Name

CYB561D2

Synonymous

cytochrome b561 family, member D2;CYB561D2;cytochrome b561 family, member D2

Definition

cytochrome b561 domain-containing protein 2|putative tumor suppressor protein 101F6

Position

3p21.3

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.557C>T; p.S186F; 3:50353632-50353632

 breastcarcinomaSubstitution - Missense

c.138C>A; p.S46S; 3:50352019-50352019

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.606C>G; p.T202T; 3:50353681-50353681

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.606C>G; p.T202T; 3:50353681-50353681

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.606C>G; p.T202T; 3:50353681-50353681

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.606C>G; p.T202T; 3:50353681-50353681

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.245G>C; p.R82P; 3:50353320-50353320

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.572C>T; p.A191V; 3:50353647-50353647

 skinmalignant_melanomaSubstitution - Missense

c.596C>A; p.P199H; 3:50353671-50353671

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.119C>A; p.P40H; 3:50351552-50351552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.668G>C; p.*223S; 3:50353743-50353743

 urinary_tract; bladdercarcinomaNonstop extension

c.135C>T; p.F45F; 3:50352016-50352016

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.220C>A; p.L74M; 3:50353295-50353295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.459G>A; p.A153A; 3:50353534-50353534

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.184G>A; p.E62K; 3:50353259-50353259

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37C>A; p.R13R; 3:50351470-50351470

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.252C>T; p.R84R; 3:50353327-50353327

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.143A>G; p.H48R; 3:50352024-50352024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.142C>A; p.H48N; 3:50352023-50352023

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.458C>T; p.A153V; 3:50353533-50353533

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.629T>C; p.V210A; 3:50353704-50353704

 breastcarcinomaSubstitution - Missense

c.67G>A; p.A23T; 3:50351500-50351500

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.67G>A; p.A23T; 3:50351500-50351500

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.38G>A; p.R13Q; 3:50351471-50351471

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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