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

Basic Information

Gene ID

2719

Name

GPC3

Synonymous

glypican 3;GPC3;glypican 3

Definition

glypican proteoglycan 3|glypican-3|heparan sulphate proteoglycan|intestinal protein OCI-5|secreted glypican-3

Position

Xq26.1

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

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 0.15.

The copy number variations for various cancers

Top

There is no record for GPC3

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1160G>A; p.R387Q; 23:133699901-133699901

 skinmalignant_melanomaSubstitution - Missense

c.490G>C; p.D164H; 23:133754024-133754024

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.490G>C; p.D164H; 23:133754024-133754024

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.865G>T; p.V289L; 23:133753649-133753649

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1065C>A; p.R355R; 23:133699996-133699996

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.865G>T; p.V289L; 23:133753649-133753649

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1199G>T; p.S400I; 23:133692462-133692462

 breastcarcinomaSubstitution - Missense

c.675C>A; p.V225V; 23:133753839-133753839

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1254C>T; p.N418N; 23:133692407-133692407

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1531G>A; p.D511N; 23:133596482-133596482

 skinmalignant_melanomaSubstitution - Missense

c.1742G>A; p.*581*; 23:133536125-133536125

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1202T>C; p.F401S; 23:133692459-133692459

 skinmalignant_melanomaSubstitution - Missense

c.326C>T; p.A109V; 23:133953061-133953061

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.503A>G; p.N168S; 23:133754011-133754011

 skinmalignant_melanomaSubstitution - Missense

c.90G>A; p.P30P; 23:133985360-133985360

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.90G>A; p.P30P; 23:133985360-133985360

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1691T>G; p.L564R; 23:133536176-133536176

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1611A>T; p.G537G; 23:133536256-133536256

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.935G>T; p.R312I; 23:133753579-133753579

 central_nervous_system; braingliomaSubstitution - Missense

c.1430C>A; p.S477Y; 23:133596583-133596583

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.114C>T; p.V38V; 23:133985336-133985336

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.779G>C; p.W260S; 23:133753735-133753735

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1423A>G; p.T475A; 23:133596590-133596590

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.76C>A; p.P26T; 23:133985374-133985374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.598G>T; p.G200*; 23:133753916-133753916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1712C>T; p.S571L; 23:133536155-133536155

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1061_1063delAAC; p.Q354delQ; 23:133699998-133700000

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - In frame

c.1555C>T; p.Q519*; 23:133596458-133596458

 skinmalignant_melanomaSubstitution - Nonsense

c.358C>T; p.R120C; 23:133754156-133754156

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.127C>T; p.Q43*; 23:133985323-133985323

 skinmalignant_melanomaSubstitution - Nonsense

c.1494C>T; p.C498C; 23:133596519-133596519

 livercarcinomaSubstitution - coding silent

c.1504G>A; p.E502K; 23:133596509-133596509

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1339C>T; p.L447F; 23:133661804-133661804

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.441A>T; p.E147D; 23:133754073-133754073

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.557G>C; p.G186A; 23:133753957-133753957

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.302A>G; p.K101R; 23:133953085-133953085

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.892G>T; p.E298*; 23:133753622-133753622

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.892G>T; p.E298*; 23:133753622-133753622

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.606A>G; p.R202R; 23:133753908-133753908

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1682C>T; p.P561L; 23:133536185-133536185

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1159C>G; p.R387G; 23:133699902-133699902

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.335A>C; p.Q112P; 23:133953052-133953052

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.327G>A; p.A109A; 23:133953060-133953060

 central_nervous_system; braingliomaSubstitution - coding silent

c.788C>T; p.S263F; 23:133753726-133753726

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.381T>C; p.N127N; 23:133754133-133754133

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.864_866delTGT; p.V290delV; 23:133753648-133753650

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.589T>A; p.C197S; 23:133753925-133753925

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1704G>A; p.M568I; 23:133536163-133536163

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1681C>T; p.P561S; 23:133536186-133536186

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.901C>A; p.L301M; 23:133753613-133753613

 breastcarcinomaSubstitution - Missense

c.601G>A; p.A201T; 23:133753913-133753913

 skinmalignant_melanomaSubstitution - Missense

c.795C>G; p.C265W; 23:133753719-133753719

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1008G>T; p.K336N; 23:133753506-133753506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707G>A; p.G236E; 23:133753807-133753807

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.333C>G; p.F111L; 23:133953054-133953054

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.498G>A; p.M166I; 23:133754016-133754016

 skinmalignant_melanomaSubstitution - Missense

c.78C>T; p.P26P; 23:133985372-133985372

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.399C>T; p.N133N; 23:133754115-133754115

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.490G>A; p.D164N; 23:133754024-133754024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.217T>C; p.C73R; 23:133953170-133953170

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.800G>A; p.G267E; 23:133753714-133753714

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.439G>A; p.E147K; 23:133754075-133754075

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1732C>T; p.L578L; 23:133536135-133536135

 skinmalignant_melanomaSubstitution - coding silent

c.1177C>T; p.Q393*; 23:133692484-133692484

 skinmalignant_melanomaSubstitution - Nonsense

c.1516A>T; p.I506F; 23:133596497-133596497

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.592C>T; p.L198F; 23:133753922-133753922

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1064G>A; p.R355H; 23:133699997-133699997

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.573C>A; p.A191A; 23:133753941-133753941

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.843C>A; p.V281V; 23:133753671-133753671

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.843C>A; p.V281V; 23:133753671-133753671

 breastcarcinomaSubstitution - coding silent

c.338-8_338-5delTTTT; p.?; 23:133754181-133754184

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.1642G>A; p.E548K; 23:133536225-133536225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.910G>T; p.E304*; 23:133753604-133753604

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1642G>A; p.E548K; 23:133536225-133536225

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1143A>T; p.E381D; 23:133699918-133699918

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1190C>A; p.S397Y; 23:133692471-133692471

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1247C>T; p.A416V; 23:133692414-133692414

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.760C>T; p.R254*; 23:133753754-133753754

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Nonsense

c.136C>T; p.Q46*; 23:133985314-133985314

 livercarcinomaSubstitution - Nonsense

c.136C>T; p.Q46*; 23:133985314-133985314

 livercarcinomaSubstitution - Nonsense

c.595C>T; p.R199*; 23:133753919-133753919

 skinmalignant_melanomaSubstitution - Nonsense

c.595C>T; p.R199*; 23:133753919-133753919

 breastcarcinomaSubstitution - Nonsense

c.196C>A; p.L66I; 23:133953191-133953191

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.656T>C; p.V219A; 23:133753858-133753858

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.646A>G; p.M216V; 23:133753868-133753868

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.793T>C; p.C265R; 23:133753721-133753721

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1498G>A; p.D500N; 23:133596515-133596515

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1029C>T; p.T343T; 23:133753485-133753485

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1314G>A; p.R438R; 23:133661829-133661829

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.726A>G; p.T242T; 23:133753788-133753788

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1468G>A; p.E490K; 23:133596545-133596545

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1739A>T; p.H580L; 23:133536128-133536128

 prostatecarcinomaSubstitution - Missense

c.563C>A; p.P188H; 23:133753951-133753951

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.771C>T; p.T257T; 23:133753743-133753743

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1130A>G; p.H377R; 23:133699931-133699931

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.336A>T; p.Q112H; 23:133953051-133953051

 kidneyother; neoplasmSubstitution - Missense

c.1658A>C; p.H553P; 23:133536209-133536209

 skinmalignant_melanomaSubstitution - Missense

c.369G>T; p.K123N; 23:133754145-133754145

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.121T>G; p.F41V; 23:133985329-133985329

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1037G>T; p.G346V; 23:133700024-133700024

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.825C>T; p.G275G; 23:133753689-133753689

 central_nervous_system; braingliomaSubstitution - coding silent

c.1330C>T; p.Q444*; 23:133661813-133661813

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1477T>G; p.F493V; 23:133596536-133596536

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.418C>A; p.Q140K; 23:133754096-133754096

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.211A>G; p.T71A; 23:133953176-133953176

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.826G>A; p.G276S; 23:133753688-133753688

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.169G>A; p.V57M; 23:133985281-133985281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1341C>A; p.L447L; 23:133661802-133661802

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.199C>A; p.P67T; 23:133953188-133953188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.596G>A; p.R199Q; 23:133753918-133753918

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.949G>A; p.E317K; 23:133753565-133753565

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.596G>A; p.R199Q; 23:133753918-133753918

 breastcarcinomaSubstitution - Missense

c.1448T>G; p.V483G; 23:133596565-133596565

 stomachadenocarcinomaSubstitution - Missense

c.482T>A; p.I161N; 23:133754032-133754032

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.16C>T; p.R6C; 23:133985434-133985434

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1671C>T; p.N557N; 23:133536196-133536196

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.362A>G; p.H121R; 23:133754152-133754152

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1726T>G; p.F576V; 23:133536141-133536141

 skinmalignant_melanomaSubstitution - Missense

c.198C>T; p.L66L; 23:133953189-133953189

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1524C>T; p.G508G; 23:133596489-133596489

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1093G>T; p.D365Y; 23:133699968-133699968

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1450C>T; p.L484L; 23:133596563-133596563

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1194C>T; p.F398F; 23:133692467-133692467

 skinmalignant_melanomaSubstitution - coding silent

c.652C>T; p.Q218*; 23:133753862-133753862

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1430C>T; p.S477F; 23:133596583-133596583

 skin; shouldermalignant_melanomaSubstitution - Missense

c.1454A>T; p.D485V; 23:133596559-133596559

 skinmalignant_melanomaSubstitution - Missense

c.1630C>T; p.P544S; 23:133536237-133536237

 skinmalignant_melanomaSubstitution - Missense

c.1453G>A; p.D485N; 23:133596560-133596560

 skinmalignant_melanomaSubstitution - Missense

')