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

Basic Information

Gene ID

8404

Name

SPARCL1

Synonymous

SPARC-like 1 (hevin);SPARCL1;SPARC-like 1 (hevin)

Definition

SPARC-like protein 1|high endothelial venule protein|proliferation-inducing protein 33

Position

4q22.1

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 0.11.

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.20delT; p.F7fs*29; 4:87499555-87499555

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.20delT; p.F7fs*29; 4:87499555-87499555

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.20delT; p.F7fs*29; 4:87499555-87499555

lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.1550A>G; p.D517G; 4:87482542-87482542

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.888A>G; p.Q296Q; 4:87493912-87493912

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.743A>G; p.D248G; 4:87494057-87494057

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.468T>C; p.S156S; 4:87494332-87494332

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.904C>A; p.L302I; 4:87493896-87493896

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.995C>G; p.P332R; 4:87493805-87493805

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1157A>G; p.Q386R; 4:87493643-87493643

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.882G>T; p.Q294H; 4:87493918-87493918

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.644A>C; p.N215T; 4:87494156-87494156

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1762T>A; p.Y588N; 4:87480427-87480427

kidneyother; neoplasmSubstitution - Missense

c.1688A>T; p.D563V; 4:87480501-87480501

livercarcinomaSubstitution - Missense

c.1688A>T; p.D563V; 4:87480501-87480501

livercarcinomaSubstitution - Missense

c.21C>T; p.F7F; 4:87499554-87499554

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.719C>G; p.S240C; 4:87494081-87494081

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.918C>A; p.S306R; 4:87493882-87493882

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1434C>T; p.T478T; 4:87490370-87490370

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1550A>T; p.D517V; 4:87482542-87482542

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.419T>C; p.F140S; 4:87494381-87494381

breastcarcinomaSubstitution - Missense

c.676A>G; p.R226G; 4:87494124-87494124

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1305C>A; p.S435R; 4:87490865-87490865

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.561T>A; p.D187E; 4:87494239-87494239

thyroidcarcinomaSubstitution - Missense

c.1323C>T; p.G441G; 4:87490847-87490847

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1546A>G; p.T516A; 4:87482546-87482546

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1180G>A; p.E394K; 4:87493620-87493620

skinmalignant_melanomaSubstitution - Missense

c.1078G>A; p.D360N; 4:87493722-87493722

breastcarcinomaSubstitution - Missense

c.1418G>C; p.G473A; 4:87490386-87490386

breastcarcinomaSubstitution - Missense

c.112G>A; p.D38N; 4:87495070-87495070

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.176C>T; p.S59F; 4:87495006-87495006

breastcarcinomaSubstitution - Missense

c.880C>T; p.Q294*; 4:87493920-87493920

breastcarcinomaSubstitution - Nonsense

c.816C>A; p.S272S; 4:87493984-87493984

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1984C>G; p.L662V; 4:87473786-87473786

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.634G>A; p.G212S; 4:87494166-87494166

livercarcinomaSubstitution - Missense

c.1881_1892del12; p.T628_F631delTRFF; 4:87479504-87479515

skinmalignant_melanomaDeletion - In frame

c.1061G>A; p.R354K; 4:87493739-87493739

skinmalignant_melanomaSubstitution - Missense

c.1499A>G; p.Q500R; 4:87490305-87490305

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1349G>A; p.G450E; 4:87490821-87490821

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1890C>A; p.F630L; 4:87479506-87479506

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1337C>T; p.A446V; 4:87490833-87490833

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.823G>T; p.E275*; 4:87493977-87493977

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.823G>T; p.E275*; 4:87493977-87493977

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.304G>A; p.D102N; 4:87494496-87494496

skinmalignant_melanomaSubstitution - Missense

c.393G>T; p.E131D; 4:87494407-87494407

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.74C>G; p.S25C; 4:87495108-87495108

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1482G>A; p.G494G; 4:87490322-87490322

skinmalignant_melanomaSubstitution - coding silent

c.1697G>A; p.R566K; 4:87480492-87480492

skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.963C>T; p.L321L; 4:87493837-87493837

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.633T>C; p.V211V; 4:87494167-87494167

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.934G>A; p.E312K; 4:87493866-87493866

skinmalignant_melanomaSubstitution - Missense

c.1387C>A; p.P463T; 4:87490783-87490783

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1035C>T; p.G345G; 4:87493765-87493765

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1618G>T; p.E540*; 4:87482474-87482474

ovarycarcinoma; clear_cell_carcinomaSubstitution - Nonsense

c.1852G>A; p.A618T; 4:87479544-87479544

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1255A>G; p.T419A; 4:87491654-87491654

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1915G>A; p.D639N; 4:87479481-87479481

skinmalignant_melanomaSubstitution - Missense

c.907G>A; p.E303K; 4:87493893-87493893

skinmalignant_melanomaSubstitution - Missense

c.1529A>G; p.K510R; 4:87490275-87490275

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1049C>A; p.T350N; 4:87493751-87493751

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.146C>A; p.A49D; 4:87495036-87495036

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.146C>A; p.A49D; 4:87495036-87495036

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.146C>A; p.A49D; 4:87495036-87495036

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.146C>A; p.A49D; 4:87495036-87495036

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.146C>A; p.A49D; 4:87495036-87495036

kidneyother; neoplasmSubstitution - Missense

c.1116G>A; p.E372E; 4:87493684-87493684

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1116G>A; p.E372E; 4:87493684-87493684

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.845C>T; p.S282L; 4:87493955-87493955

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.845C>T; p.S282L; 4:87493955-87493955

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.845C>T; p.S282L; 4:87493955-87493955

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.667G>C; p.E223Q; 4:87494133-87494133

breastcarcinomaSubstitution - Missense

c.1881A>G; p.I627M; 4:87479515-87479515

skinmalignant_melanomaSubstitution - Missense

c.749C>T; p.P250L; 4:87494051-87494051

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.415G>A; p.D139N; 4:87494385-87494385

skinmalignant_melanomaSubstitution - Missense

c.879G>C; p.W293C; 4:87493921-87493921

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.884G>T; p.S295I; 4:87493916-87493916

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1975G>A; p.D659N; 4:87473795-87473795

skinmalignant_melanomaSubstitution - Missense

c.529A>G; p.R177G; 4:87494271-87494271

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.529A>G; p.R177G; 4:87494271-87494271

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>C; p.D359H; 4:87493725-87493725

urinary_tract; bladdercarcinomaSubstitution - Missense

c.116A>G; p.N39S; 4:87495066-87495066

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>C; p.D359H; 4:87493725-87493725

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.828G>A; p.M276I; 4:87493972-87493972

skinmalignant_melanomaSubstitution - Missense

c.1024G>A; p.D342N; 4:87493776-87493776

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1024G>A; p.D342N; 4:87493776-87493776

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.G144D; 4:87494369-87494369

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.627T>G; p.G209G; 4:87494173-87494173

breastcarcinomaSubstitution - coding silent

c.382G>A; p.E128K; 4:87494418-87494418

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1674G>A; p.K558K; 4:87480515-87480515

skinmalignant_melanomaSubstitution - coding silent

c.1679T>G; p.I560S; 4:87480510-87480510

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205G>C; p.E69Q; 4:87494595-87494595

livercarcinomaSubstitution - Missense

c.205G>C; p.E69Q; 4:87494595-87494595

livercarcinomaSubstitution - Missense

c.1994G>C; p.*665S; 4:87473776-87473776

urinary_tract; bladdercarcinomaNonstop extension

c.1160G>C; p.R387T; 4:87493640-87493640

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.303G>T; p.E101D; 4:87494497-87494497

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.740C>G; p.S247C; 4:87494060-87494060

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.129C>A; p.P43P; 4:87495053-87495053

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.399_400insA; p.L134fs*6; 4:87494400-87494401

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.460C>G; p.Q154E; 4:87494340-87494340

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.593C>T; p.S198F; 4:87494207-87494207

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1519G>A; p.G507R; 4:87490285-87490285

thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.1972A>G; p.I658V; 4:87473798-87473798

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.54G>A; p.P18P; 4:87499521-87499521

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.865C>A; p.Q289K; 4:87493935-87493935

ovaryother; neoplasmSubstitution - Missense

c.1434C>A; p.T478T; 4:87490370-87490370

breastcarcinomaSubstitution - coding silent

c.1625A>G; p.N542S; 4:87482467-87482467

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.618A>G; p.K206K; 4:87494182-87494182

lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1060A>G; p.R354G; 4:87493740-87493740

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1439C>T; p.A480V; 4:87490365-87490365

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1858C>A; p.L620M; 4:87479538-87479538

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.844T>A; p.S282T; 4:87493956-87493956

skinmalignant_melanomaSubstitution - Missense

c.861C>T; p.H287H; 4:87493939-87493939

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.784G>A; p.D262N; 4:87494016-87494016

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1459G>A; p.A487T; 4:87490345-87490345

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1955G>A; p.G652E; 4:87479441-87479441

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.186C>T; p.D62D; 4:87494996-87494996

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.316C>G; p.H106D; 4:87494484-87494484

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.316C>G; p.H106D; 4:87494484-87494484

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.316C>G; p.H106D; 4:87494484-87494484

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.316C>G; p.H106D; 4:87494484-87494484

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.78T>G; p.D26E; 4:87495104-87495104

oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.534C>A; p.S178R; 4:87494266-87494266

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1510G>A; p.D504N; 4:87490294-87490294

skinmalignant_melanomaSubstitution - Missense

c.532A>T; p.S178C; 4:87494268-87494268

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1635C>T; p.H545H; 4:87482457-87482457

thyroidother; neoplasmSubstitution - coding silent

c.1635C>T; p.H545H; 4:87482457-87482457

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1746G>C; p.K582N; 4:87480443-87480443

urinary_tract; bladdercarcinomaSubstitution - Missense

c.108A>C; p.A36A; 4:87495074-87495074

thyroidother; neoplasmSubstitution - coding silent

c.1746delG; p.N584fs*25; 4:87480443-87480443

breastcarcinoma; basal_(triple-negative)_carcinomaDeletion - Frameshift

c.1040A>G; p.D347G; 4:87493760-87493760

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1233G>T; p.E411D; 4:87491676-87491676

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense


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