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

Basic Information

Gene ID

5268

Name

SERPINB5

Synonymous

serpin peptidase inhibitor, clade B (ovalbumin), member 5;SERPINB5;serpin peptidase inhibitor, clade B (ovalbumin), member 5

Definition

PI-5|peptidase inhibitor 5|protease inhibitor 5 (maspin)|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5|serpin B5

Position

18q21.33

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 0.05.

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.601G>A; p.E201K; 18:63499153-63499153

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.665delA; p.N223fs*59; 18:63499217-63499217

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.736-3C>T; p.?; 18:63503327-63503327

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.597C>G; p.N199K; 18:63499149-63499149

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.181G>A; p.E61K; 18:63486958-63486958

 skinmalignant_melanomaSubstitution - Missense

c.622A>T; p.N208Y; 18:63499174-63499174

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.533C>A; p.S178*; 18:63493061-63493061

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.973G>A; p.E325K; 18:63503567-63503567

 skinmalignant_melanomaSubstitution - Missense

c.671A>G; p.K224R; 18:63499223-63499223

 skinmalignant_melanomaSubstitution - Missense

c.551C>T; p.P184L; 18:63493079-63493079

 skinmalignant_melanomaSubstitution - Missense

c.551C>T; p.P184L; 18:63493079-63493079

 skinmalignant_melanomaSubstitution - Missense

c.920T>C; p.M307T; 18:63503514-63503514

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.920T>C; p.M307T; 18:63503514-63503514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.333G>C; p.P111P; 18:63489373-63489373

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.333G>C; p.P111P; 18:63489373-63489373

 thyroidother; neoplasmSubstitution - coding silent

c.493G>A; p.A165T; 18:63493021-63493021

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1083C>A; p.N361K; 18:63503677-63503677

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.526T>C; p.S176P; 18:63493054-63493054

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.526T>C; p.S176P; 18:63493054-63493054

 thyroidother; neoplasmSubstitution - Missense

c.422A>C; p.D141A; 18:63489462-63489462

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1015G>A; p.A339T; 18:63503609-63503609

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.383C>T; p.T128M; 18:63489423-63489423

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.383C>T; p.T128M; 18:63489423-63489423

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.19G>A; p.A7T; 18:63484447-63484447

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.110C>T; p.T37I; 18:63484538-63484538

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.245C>T; p.S82F; 18:63487022-63487022

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271C>T; p.R91W; 18:63487048-63487048

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.324G>A; p.T108T; 18:63489364-63489364

 skinmalignant_melanomaSubstitution - coding silent

c.524T>C; p.F175S; 18:63493052-63493052

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.323C>T; p.T108M; 18:63489363-63489363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.226G>A; p.D76N; 18:63487003-63487003

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.226G>A; p.D76N; 18:63487003-63487003

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.221C>T; p.T74I; 18:63486998-63486998

 livercarcinomaSubstitution - Missense

c.145G>A; p.D49N; 18:63484573-63484573

 skin; trunkmalignant_melanomaSubstitution - Missense

c.925G>C; p.E309Q; 18:63503519-63503519

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.519G>T; p.K173N; 18:63493047-63493047

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.169G>C; p.V57L; 18:63486946-63486946

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.645G>C; p.K215N; 18:63499197-63499197

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.424+1G>A; p.?; 18:63489465-63489465

 stomachcarcinoma; adenocarcinomaUnknown

c.955A>G; p.I319V; 18:63503549-63503549

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.850C>T; p.P284S; 18:63503444-63503444

 skinmalignant_melanomaSubstitution - Missense

c.329G>T; p.R110I; 18:63489369-63489369

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.804G>A; p.K268K; 18:63503398-63503398

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.632G>A; p.S211N; 18:63499184-63499184

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.285C>A; p.D95E; 18:63487062-63487062

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.371A>C; p.K124T; 18:63489411-63489411

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.516G>A; p.M172I; 18:63493044-63493044

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.888C>A; p.I296I; 18:63503482-63503482

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.8C>T; p.A3V; 18:63484436-63484436

 prostatecarcinomaSubstitution - Missense

c.200C>T; p.P67L; 18:63486977-63486977

 skinmalignant_melanomaSubstitution - Missense

c.205G>A; p.G69R; 18:63486982-63486982

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1044G>C; p.L348F; 18:63503638-63503638

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.252C>A; p.Y84*; 18:63487029-63487029

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.919A>G; p.M307V; 18:63503513-63503513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.919A>G; p.M307V; 18:63503513-63503513

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.919A>T; p.M307L; 18:63503513-63503513

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.384G>A; p.T128T; 18:63489424-63489424

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1023C>A; p.I341I; 18:63503617-63503617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.379G>A; p.E127K; 18:63489419-63489419

 ovaryother; neoplasmSubstitution - Missense

c.379G>A; p.E127K; 18:63489419-63489419

 skinmalignant_melanomaSubstitution - Missense

c.506G>C; p.G169A; 18:63493034-63493034

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272G>A; p.R91Q; 18:63487049-63487049

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.307G>A; p.E103K; 18:63489347-63489347

 skinmalignant_melanomaSubstitution - Missense

c.476T>G; p.I159S; 18:63493004-63493004

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.124_125GC>TT; p.A42F; 18:63484552-63484553

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.630C>A; p.D210E; 18:63499182-63499182

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.225G>A; p.S75S; 18:63487002-63487002

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.28G>T; p.A10S; 18:63484456-63484456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425G>T; p.G142V; 18:63492953-63492953

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>C; p.V187L; 18:63493087-63493087

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

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