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

Basic Information

Gene ID

25855

Name

BRMS1

Synonymous

breast cancer metastasis suppressor 1;BRMS1;breast cancer metastasis suppressor 1

Definition

breast cancer metastasis-suppressor 1

Position

11q13.2

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

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 0.11.

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.641T>G; p.V214G; 11:66338773-66338773

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.312C>T; p.P104P; 11:66341252-66341252

 skinmalignant_melanomaSubstitution - coding silent

c.605G>C; p.R202T; 11:66340144-66340144

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.344G>A; p.R115H; 11:66341220-66341220

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.450G>A; p.L150L; 11:66340859-66340859

 skinmalignant_melanomaSubstitution - coding silent

c.460G>C; p.D154H; 11:66340849-66340849

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.402C>T; p.Y134Y; 11:66341003-66341003

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.226G>A; p.E76K; 11:66341537-66341537

 livercarcinomaSubstitution - Missense

c.626C>T; p.S209F; 11:66340123-66340123

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.226G>A; p.E76K; 11:66341537-66341537

 livercarcinomaSubstitution - Missense

c.140-9T>C; p.?; 11:66341632-66341632

 pancreascarcinomaUnknown

c.36G>C; p.E12D; 11:66342199-66342199

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.710C>T; p.S237F; 11:66338266-66338266

 skinmalignant_melanomaSubstitution - Missense

c.36G>C; p.E12D; 11:66342199-66342199

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.213C>A; p.F71L; 11:66341550-66341550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.213C>A; p.F71L; 11:66341550-66341550

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.626C>G; p.S209C; 11:66340123-66340123

 breastcarcinomaSubstitution - Missense

c.372C>T; p.G124G; 11:66341033-66341033

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.328C>T; p.R110W; 11:66341236-66341236

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.558C>T; p.H186H; 11:66340191-66340191

 stomachadenocarcinomaSubstitution - coding silent

c.503A>C; p.E168A; 11:66340806-66340806

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.713C>A; p.P238H; 11:66338263-66338263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.182T>C; p.V61A; 11:66341581-66341581

 pancreascarcinomaSubstitution - Missense

c.52G>A; p.D18N; 11:66342183-66342183

 prostatecarcinomaSubstitution - Missense

c.329G>A; p.R110Q; 11:66341235-66341235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.361A>G; p.I121V; 11:66341044-66341044

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.163C>T; p.R55*; 11:66341600-66341600

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.465G>T; p.T155T; 11:66340844-66340844

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.728C>T; p.S243L; 11:66338248-66338248

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.728C>T; p.S243L; 11:66338248-66338248

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.680C>G; p.T227R; 11:66338734-66338734

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.201A>G; p.L67L; 11:66341562-66341562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.294C>T; p.A98A; 11:66341270-66341270

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.626C>A; p.S209Y; 11:66340123-66340123

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.306G>A; p.T102T; 11:66341258-66341258

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.48G>T; p.E16D; 11:66342187-66342187

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.708_709delGT; p.S237fs*>10; 11:66338267-66338268

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.730delG; p.D244fs*>3; 11:66338246-66338246

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.166C>T; p.R56C; 11:66341597-66341597

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.305C>T; p.T102M; 11:66341259-66341259

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.244C>T; p.R82*; 11:66341320-66341320

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.244C>T; p.R82*; 11:66341320-66341320

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.403G>A; p.E135K; 11:66341002-66341002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.478C>A; p.L160M; 11:66340831-66340831

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.488G>A; p.R163Q; 11:66340821-66340821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.274G>A; p.E92K; 11:66341290-66341290

 skin; trunkmalignant_melanomaSubstitution - Missense

')