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

Basic Information

Gene ID

6422

Name

SFRP1

Synonymous

secreted frizzled-related protein 1;SFRP1;secreted frizzled-related protein 1

Definition

SARP-2|sFRP-1|secreted apoptosis-related protein 2

Position

8p11.21

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 0.17.

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.370C>T; p.R124W; 8:41308790-41308790

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.222G>T; p.K74N; 8:41308938-41308938

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.93C>T; p.A31A; 8:41309067-41309067

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.648G>A; p.V216V; 8:41265464-41265464

 skinmalignant_melanomaSubstitution - coding silent

c.441C>T; p.F147F; 8:41308719-41308719

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.492C>T; p.D164D; 8:41308668-41308668

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.589G>A; p.A197T; 8:41303494-41303494

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.661G>T; p.G221C; 8:41265451-41265451

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.668A>C; p.K223T; 8:41265444-41265444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.823G>A; p.V275M; 8:41265289-41265289

 skinmalignant_melanomaSubstitution - Missense

c.457G>A; p.E153K; 8:41308703-41308703

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.A88T; 8:41308898-41308898

 breastcarcinomaSubstitution - Missense

c.714C>G; p.I238M; 8:41265398-41265398

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.A88T; 8:41308898-41308898

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.281C>T; p.A94V; 8:41308879-41308879

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.139C>A; p.Q47K; 8:41309021-41309021

 livercarcinomaSubstitution - Missense

c.139C>A; p.Q47K; 8:41309021-41309021

 livercarcinomaSubstitution - Missense

c.889T>C; p.F297L; 8:41265223-41265223

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.260T>C; p.M87T; 8:41308900-41308900

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.73C>T; p.L25F; 8:41309087-41309087

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92C>A; p.A31D; 8:41309068-41309068

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.195G>T; p.L65L; 8:41308965-41308965

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.523A>C; p.T175P; 8:41308637-41308637

 breastcarcinomaSubstitution - Missense

c.880T>C; p.F294L; 8:41265232-41265232

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.665A>T; p.D222V; 8:41265447-41265447

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.643G>A; p.E215K; 8:41265469-41265469

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.484G>T; p.E162*; 8:41308676-41308676

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.534C>T; p.S178S; 8:41308626-41308626

 skinmalignant_melanomaSubstitution - coding silent

c.934G>A; p.V312M; 8:41265178-41265178

 breastcarcinomaSubstitution - Missense

c.66C>T; p.G22G; 8:41309094-41309094

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.490delG; p.D164fs*6; 8:41308670-41308670

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.591C>T; p.A197A; 8:41303492-41303492

 stomachadenocarcinomaSubstitution - coding silent

c.746A>G; p.Y249C; 8:41265366-41265366

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.537G>T; p.K179N; 8:41308623-41308623

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.860G>A; p.W287*; 8:41265252-41265252

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.792C>T; p.L264L; 8:41265320-41265320

 breastcarcinomaSubstitution - coding silent

c.643G>T; p.E215*; 8:41265469-41265469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.400G>A; p.E134K; 8:41308760-41308760

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.39_41delAGC; p.A14delA; 8:41309119-41309121

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.132C>A; p.G44G; 8:41309028-41309028

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.132C>A; p.G44G; 8:41309028-41309028

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.684G>A; p.K228K; 8:41265428-41265428

 skinmalignant_melanomaSubstitution - coding silent

c.39_41delAGC; p.A14delA; 8:41309119-41309121

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.39_41delAGC; p.A14delA; 8:41309119-41309121

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisDeletion - In frame

c.80C>T; p.A27V; 8:41309080-41309080

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.80C>T; p.A27V; 8:41309080-41309080

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.862G>A; p.D288N; 8:41265250-41265250

 skinmalignant_melanomaSubstitution - Missense

c.822G>A; p.K274K; 8:41265290-41265290

 skinmalignant_melanomaSubstitution - coding silent

c.239A>G; p.N80S; 8:41308921-41308921

 skinmalignant_melanomaSubstitution - Missense

c.883A>C; p.K295Q; 8:41265229-41265229

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.552G>A; p.T184T; 8:41303531-41303531

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.616G>A; p.E206K; 8:41303467-41303467

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.410G>A; p.R137H; 8:41308750-41308750

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.410G>A; p.R137H; 8:41308750-41308750

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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