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

Basic Information

Gene ID

6678

Name

SPARC

Synonymous

secreted protein, acidic, cysteine-rich (osteonectin);SPARC;secreted protein, acidic, cysteine-rich (osteonectin)

Definition

BM-40|basement-membrane protein 40|cysteine-rich protein|osteonectin|secreted protein acidic and rich in cysteine

Position

5q31.3-q32

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 0.06.

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.816C>A; p.T272T; 5:151664154-151664154

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.750C>T; p.T250T; 5:151664220-151664220

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.131G>A; p.G44E; 5:151673206-151673206

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.54C>G; p.A18A; 5:151676135-151676135

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.54C>G; p.A18A; 5:151676135-151676135

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.637G>T; p.V213L; 5:151666458-151666458

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.787G>A; p.E263K; 5:151664183-151664183

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.829A>G; p.N277D; 5:151664141-151664141

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.503G>T; p.R168L; 5:151667549-151667549

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.279C>T; p.C93C; 5:151671624-151671624

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.821A>C; p.D274A; 5:151664149-151664149

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.375C>G; p.F125L; 5:151669740-151669740

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.186C>T; p.T62T; 5:151673151-151673151

pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - coding silent

c.652C>T; p.R218W; 5:151666443-151666443

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.661G>A; p.E221K; 5:151666434-151666434

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.844G>A; p.A282T; 5:151664126-151664126

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.844G>A; p.A282T; 5:151664126-151664126

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.844G>A; p.A282T; 5:151664126-151664126

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.844G>A; p.A282T; 5:151664126-151664126

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.679T>C; p.Y227H; 5:151666416-151666416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.117T>A; p.T39T; 5:151674615-151674615

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.157G>T; p.G53*; 5:151673180-151673180

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.586-3C>T; p.?; 5:151666512-151666512

breastcarcinomaUnknown

c.705C>T; p.F235F; 5:151666390-151666390

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.595A>G; p.I199V; 5:151666500-151666500

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.663G>C; p.E221D; 5:151666432-151666432

skinmalignant_melanomaSubstitution - Missense

c.150G>A; p.V50V; 5:151673187-151673187

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.310C>A; p.P104T; 5:151671593-151671593

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.187G>T; p.E63*; 5:151673150-151673150

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.280G>A; p.V94M; 5:151671623-151671623

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.23T>A; p.L8H; 5:151676166-151676166

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.23T>A; p.L8H; 5:151676166-151676166

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.393C>T; p.T131T; 5:151669722-151669722

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.380C>T; p.A127V; 5:151669735-151669735

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.491C>T; p.P164L; 5:151667561-151667561

skinmalignant_melanomaSubstitution - Missense

c.407A>C; p.K136T; 5:151669708-151669708

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.122T>C; p.V41A; 5:151673215-151673215

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.250G>A; p.E84K; 5:151671653-151671653

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.250G>A; p.E84K; 5:151671653-151671653

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.250G>A; p.E84K; 5:151671653-151671653

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.626G>T; p.G209V; 5:151666469-151666469

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.529A>T; p.T177S; 5:151667523-151667523

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.497G>A; p.R166H; 5:151667555-151667555

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.449A>G; p.K150R; 5:151669666-151669666

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.484G>C; p.E162Q; 5:151667568-151667568

skinmalignant_melanomaSubstitution - Missense

c.840C>T; p.Y280Y; 5:151664130-151664130

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.454A>G; p.I152V; 5:151667598-151667598

bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.636C>T; p.P212P; 5:151666459-151666459

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.538G>A; p.E180K; 5:151667514-151667514

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.730G>A; p.D244N; 5:151666365-151666365

breastcarcinomaSubstitution - Missense

c.18C>A; p.F6L; 5:151676171-151676171

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.513C>T; p.L171L; 5:151667539-151667539

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - coding silent

c.357C>T; p.F119F; 5:151669758-151669758

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.761C>A; p.P254Q; 5:151664209-151664209

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.732C>T; p.D244D; 5:151666363-151666363

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.550G>A; p.D184N; 5:151667502-151667502

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.694C>T; p.H232Y; 5:151666401-151666401

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.603G>T; p.E201D; 5:151666492-151666492

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.826G>T; p.D276Y; 5:151664144-151664144

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.860C>T; p.A287V; 5:151664110-151664110

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860C>T; p.A287V; 5:151664110-151664110

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.513C>G; p.L171L; 5:151667539-151667539

breastcarcinomaSubstitution - coding silent

c.352A>G; p.T118A; 5:151669763-151669763

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.576G>A; p.Q192Q; 5:151667476-151667476

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.261G>T; p.E87D; 5:151671642-151671642

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160G>T; p.E54*; 5:151673177-151673177

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.358G>A; p.D120N; 5:151669757-151669757

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.584G>A; p.R195Q; 5:151667468-151667468

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335G>T; p.C112F; 5:151669780-151669780

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.749C>T; p.T250I; 5:151664221-151664221

skinmalignant_melanomaSubstitution - Missense

c.469G>A; p.D157N; 5:151667583-151667583

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense


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