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

Basic Information

Gene ID

6423

Name

SFRP2

Synonymous

secreted frizzled-related protein 2;SFRP2;secreted frizzled-related protein 2

Definition

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

Position

4q31.3

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 0.13.

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.829C>T; p.Q277*; 4:153781510-153781510

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.471C>T; p.S157S; 4:153788365-153788365

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.380C>T; p.P127L; 4:153788456-153788456

 skinmalignant_melanomaSubstitution - Missense

c.523T>C; p.C175R; 4:153785924-153785924

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.S235L; 4:153781635-153781635

 skinmalignant_melanomaSubstitution - Missense

c.704C>T; p.S235L; 4:153781635-153781635

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.431G>A; p.R144H; 4:153788405-153788405

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.431G>A; p.R144H; 4:153788405-153788405

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.474C>T; p.S158S; 4:153788362-153788362

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.583+2T>A; p.?; 4:153785862-153785862

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.745G>T; p.E249*; 4:153781594-153781594

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.883T>G; p.C295G; 4:153781456-153781456

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.237G>A; p.W79*; 4:153788599-153788599

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.55C>A; p.L19M; 4:153788781-153788781

 thyroidother; neoplasmSubstitution - Missense

c.676G>A; p.G226S; 4:153781663-153781663

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.437C>T; p.P146L; 4:153788399-153788399

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.118T>A; p.C40S; 4:153788718-153788718

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.188T>A; p.L63Q; 4:153788648-153788648

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.752A>G; p.N251S; 4:153781587-153781587

 skinmalignant_melanomaSubstitution - Missense

c.499G>A; p.E167K; 4:153788337-153788337

 skinmalignant_melanomaSubstitution - Missense

c.524G>A; p.C175Y; 4:153785923-153785923

 prostatecarcinomaSubstitution - Missense

c.625G>C; p.D209H; 4:153781714-153781714

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.625G>C; p.D209H; 4:153781714-153781714

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.866G>T; p.S289I; 4:153781473-153781473

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.306C>T; p.V102V; 4:153788530-153788530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.176G>A; p.R59Q; 4:153788660-153788660

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.134C>T; p.A45V; 4:153788702-153788702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.134C>T; p.A45V; 4:153788702-153788702

 thyroidother; neoplasmSubstitution - Missense

c.835G>A; p.G279R; 4:153781504-153781504

 skinmalignant_melanomaSubstitution - Missense

c.338C>T; p.P113L; 4:153788498-153788498

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.348G>A; p.S116S; 4:153788488-153788488

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.199G>A; p.E67K; 4:153788637-153788637

 skinmalignant_melanomaSubstitution - Missense

c.863G>T; p.R288L; 4:153781476-153781476

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.863G>T; p.R288L; 4:153781476-153781476

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.70G>A; p.G24R; 4:153788766-153788766

 pancreascarcinomaSubstitution - Missense

c.762C>T; p.N254N; 4:153781577-153781577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.99C>A; p.F33L; 4:153788737-153788737

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.754G>A; p.D252N; 4:153781585-153781585

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.75C>T; p.L25L; 4:153788761-153788761

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.376G>A; p.A126T; 4:153788460-153788460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.297C>T; p.F99F; 4:153788539-153788539

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.297C>T; p.F99F; 4:153788539-153788539

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.816G>C; p.S272S; 4:153781523-153781523

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.775G>A; p.V259I; 4:153781564-153781564

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.67C>T; p.R23C; 4:153788769-153788769

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.690G>A; p.R230R; 4:153781649-153781649

 skinmalignant_melanomaSubstitution - coding silent

c.816G>A; p.S272S; 4:153781523-153781523

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.816G>A; p.S272S; 4:153781523-153781523

 large_intestine; rectumNSSubstitution - coding silent

c.816G>A; p.S272S; 4:153781523-153781523

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.590A>C; p.K197T; 4:153781749-153781749

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.661A>G; p.I221V; 4:153781678-153781678

 skinmalignant_melanomaSubstitution - Missense

c.776T>C; p.V259A; 4:153781563-153781563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.606G>C; p.E202D; 4:153781733-153781733

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.776T>C; p.V259A; 4:153781563-153781563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.776T>C; p.V259A; 4:153781563-153781563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.132T>G; p.P44P; 4:153788704-153788704

 thyroidother; neoplasmSubstitution - coding silent

c.133G>T; p.A45S; 4:153788703-153788703

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.675C>T; p.N225N; 4:153781664-153781664

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.763G>A; p.A255T; 4:153781576-153781576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.571A>G; p.K191E; 4:153785876-153785876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.763G>A; p.A255T; 4:153781576-153781576

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.563C>T; p.T188M; 4:153785884-153785884

 pancreascarcinomaSubstitution - Missense

c.763G>A; p.A255T; 4:153781576-153781576

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.429C>T; p.D143D; 4:153788407-153788407

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.66G>A; p.A22A; 4:153788770-153788770

 thyroidother; neoplasmSubstitution - coding silent

c.21G>C; p.S7S; 4:153788815-153788815

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.753C>T; p.N251N; 4:153781586-153781586

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.241C>T; p.P81S; 4:153788595-153788595

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.486G>C; p.L162L; 4:153788350-153788350

 thyroidother; neoplasmSubstitution - coding silent

c.147delG; p.C50fs*20; 4:153788689-153788689

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.647C>T; p.T216I; 4:153781692-153781692

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.588G>A; p.L196L; 4:153781751-153781751

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.853C>T; p.R285C; 4:153781486-153781486

 prostatecarcinomaSubstitution - Missense

c.463delC; p.L155fs*31; 4:153788373-153788373

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.773_784del12; p.L258_G261delLVMG; 4:153781555-153781566

 skin; scalpmalignant_melanomaDeletion - In frame

c.389C>T; p.S130F; 4:153788447-153788447

 skinmalignant_melanomaSubstitution - Missense

c.20_21insGCT; p.L11_F12insL; 4:153788815-153788816

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaInsertion - In frame

c.175C>T; p.R59W; 4:153788661-153788661

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.738C>T; p.T246T; 4:153781601-153781601

 skinmalignant_melanomaSubstitution - coding silent

c.705G>A; p.S235S; 4:153781634-153781634

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.622C>T; p.R208*; 4:153781717-153781717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.540T>G; p.D180E; 4:153785907-153785907

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.540T>G; p.D180E; 4:153785907-153785907

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.683C>T; p.S228F; 4:153781656-153781656

 skinmalignant_melanomaSubstitution - Missense

c.866G>A; p.S289N; 4:153781473-153781473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.727T>A; p.L243M; 4:153781612-153781612

 skinmalignant_melanomaSubstitution - Missense

c.745G>A; p.E249K; 4:153781594-153781594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.248T>C; p.V83A; 4:153788588-153788588

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.32_33insGCT; p.L11_F12insL; 4:153788803-153788804

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - In frame

c.815C>A; p.S272*; 4:153781524-153781524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.325G>A; p.E109K; 4:153788511-153788511

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.E109K; 4:153788511-153788511

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.78C>T; p.F26F; 4:153788758-153788758

 thyroidother; neoplasmSubstitution - coding silent

c.211G>C; p.E71Q; 4:153788625-153788625

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.396C>T; p.F132F; 4:153788440-153788440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.823C>T; p.R275W; 4:153781516-153781516

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.814T>A; p.S272T; 4:153781525-153781525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298G>A; p.A100T; 4:153788538-153788538

 central_nervous_system; braingliomaSubstitution - Missense

c.150C>T; p.C50C; 4:153788686-153788686

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.871C>T; p.R291C; 4:153781468-153781468

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.829C>G; p.Q277E; 4:153781510-153781510

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

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