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

Basic Information

Gene ID

10019

Name

SH2B3

Synonymous

SH2B adaptor protein 3;SH2B3;SH2B adaptor protein 3

Definition

SH2B adapter protein 3|lymphocyte-specific adapter protein Lnk|signal transduction protein Lnk

Position

12q24

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 0.18.

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.464C>T; p.P155L; 12:111418609-111418609

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.1703T>C; p.I568T; 12:111448277-111448277

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.799G>A; p.E267K; 12:111446819-111446819

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.246A>G; p.G82G; 12:111418391-111418391

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.804G>A; p.M268I; 12:111446824-111446824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.639C>A; p.S213R; 12:111418784-111418784

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.1033delG; p.L347fs*26; 12:111447341-111447341

 livercarcinomaDeletion - Frameshift

c.733-2A>T; p.?; 12:111446751-111446751

 oesophaguscarcinoma; adenocarcinomaUnknown

c.1184delA; p.E395fs*16; 12:111447492-111447492

 livercarcinomaDeletion - Frameshift

c.59C>T; p.A20V; 12:111418204-111418204

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1507T>A; p.S503T; 12:111448081-111448081

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665T>C; p.L222P; 12:111418810-111418810

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1236+4_1236+8delTGGGG; p.?; 12:111447548-111447552

 breastcarcinomaUnknown

c.658G>A; p.G220R; 12:111418803-111418803

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1198G>A; p.E400K; 12:111447506-111447506

 central_nervous_system; braingliomaSubstitution - Missense

c.1368C>T; p.V456V; 12:111447787-111447787

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.908C>A; p.S303*; 12:111447015-111447015

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.908C>A; p.S303*; 12:111447015-111447015

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.1099G>A; p.G367S; 12:111447407-111447407

 central_nervous_system; braingliomaSubstitution - Missense

c.1099G>A; p.G367S; 12:111447407-111447407

 breastcarcinomaSubstitution - Missense

c.1659G>A; p.S553S; 12:111448233-111448233

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1303G>A; p.V435M; 12:111447722-111447722

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.878A>G; p.Q293R; 12:111446985-111446985

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.733-1G>T; p.?; 12:111446752-111446752

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1190G>A; p.R397Q; 12:111447498-111447498

 pancreascarcinomaSubstitution - Missense

c.868G>T; p.G290*; 12:111446975-111446975

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.525G>C; p.R175R; 12:111418670-111418670

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1597G>A; p.E533K; 12:111448171-111448171

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1083C>A; p.C361*; 12:111447391-111447391

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1561delC; p.E523fs*25; 12:111448135-111448135

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1561delC; p.E523fs*25; 12:111448135-111448135

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.685_691delGGCCCCG; p.G229fs*47; 12:111418830-111418836

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisDeletion - Frameshift

c.685_691delGGCCCCG; p.G229fs*47; 12:111418830-111418836

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisDeletion - Frameshift

c.1267C>T; p.Q423*; 12:111447686-111447686

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Nonsense

c.874G>C; p.E292Q; 12:111446981-111446981

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.1267C>T; p.Q423*; 12:111447686-111447686

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.1528_1528C>GT; p.L510fs*36; 12:111448102-111448102

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaComplex - frameshift

c.622G>C; p.E208Q; 12:111418767-111418767

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

c.622G>C; p.E208Q; 12:111418767-111418767

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.622G>C; p.E208Q; 12:111418767-111418767

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.622G>C; p.E208Q; 12:111418767-111418767

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.816_834+26del; p.?; 12:111446836-111446880

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.1162G>A; p.V388M; 12:111447470-111447470

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1393G>A; p.V465I; 12:111447812-111447812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1251G>A; p.S417S; 12:111447670-111447670

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1641G>A; p.V547V; 12:111448215-111448215

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.385C>T; p.P129S; 12:111418530-111418530

 skin; extremitymalignant_melanomaSubstitution - Missense

c.434T>C; p.I145T; 12:111418579-111418579

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1_733-7575del21033; p.?; 12:111403235-111439178

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaUnknown

c.659G>T; p.G220V; 12:111418804-111418804

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1373T>C; p.L458P; 12:111447792-111447792

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.251C>T; p.A84V; 12:111418396-111418396

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1651C>T; p.R551W; 12:111448225-111448225

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.1279_1280ins14; p.Q427fs*42; 12:111447698-111447699

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaInsertion - Frameshift

c.1192C>T; p.R398C; 12:111447500-111447500

 breastcarcinomaSubstitution - Missense

c.676C>T; p.R226W; 12:111418821-111418821

 thyroidother; neoplasmSubstitution - Missense

c.1523G>C; p.R508P; 12:111448097-111448097

 skinmalignant_melanomaSubstitution - Missense

c.1422_1423GG>AA; p.V475I; 12:111447996-111447997

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1164G>A; p.V388V; 12:111447472-111447472

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.860T>C; p.F287S; 12:111446967-111446967

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.1712A>G; p.Q571R; 12:111448286-111448286

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.685G>A; p.G229S; 12:111418830-111418830

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.1392C>T; p.V464V; 12:111447811-111447811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.820A>G; p.T274A; 12:111446840-111446840

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.1499A>C; p.H500P; 12:111448073-111448073

 breastcarcinomaSubstitution - Missense

c.603_613>ACAGCG; p.R202fs*64; 12:111418748-111418758

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisComplex - frameshift

c.1327C>T; p.R443C; 12:111447746-111447746

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.622G>T; p.E208*; 12:111418767-111418767

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Nonsense

c.1589C>T; p.P530L; 12:111448163-111448163

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.405C>T; p.F135F; 12:111418550-111418550

 skinmalignant_melanomaSubstitution - coding silent

c.30G>A; p.S10S; 12:111418175-111418175

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1032_1033insG; p.L347fs*38; 12:111447340-111447341

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaInsertion - Frameshift

c.232G>A; p.E78K; 12:111418377-111418377

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.797T>C; p.L266P; 12:111446817-111446817

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1593G>T; p.S531S; 12:111448167-111448167

 thyroidcarcinomaSubstitution - coding silent

c.1583T>A; p.L528Q; 12:111448157-111448157

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955_955delA; p.I319fs*5; 12:111447153-111447153

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisDeletion - Frameshift

c.955_955delA; p.I319fs*5; 12:111447153-111447153

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisDeletion - Frameshift

c.1564C>A; p.P522T; 12:111448138-111448138

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.980C>T; p.T327M; 12:111447178-111447178

 skinmalignant_melanomaSubstitution - Missense

c.1579C>T; p.H527Y; 12:111448153-111448153

 pancreascarcinomaSubstitution - Missense

c.1579C>T; p.H527Y; 12:111448153-111448153

 pancreascarcinomaSubstitution - Missense

c.922C>T; p.R308*; 12:111447029-111447029

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.489C>T; p.P163P; 12:111418634-111418634

 livercarcinomaSubstitution - coding silent

c.489C>T; p.P163P; 12:111418634-111418634

 livercarcinomaSubstitution - coding silent

c.644C>T; p.A215V; 12:111418789-111418789

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.644C>T; p.A215V; 12:111418789-111418789

 haematopoietic_and_lymphoid_tissueother; idiopathic_erythrocytosisSubstitution - Missense

c.1522C>T; p.R508W; 12:111448096-111448096

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1383C>T; p.Y461Y; 12:111447802-111447802

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.644C>T; p.A215V; 12:111418789-111418789

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.770T>C; p.I257T; 12:111446790-111446790

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.624G>A; p.E208E; 12:111418769-111418769

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_veraSubstitution - coding silent

c.1009T>C; p.S337P; 12:111447207-111447207

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1009T>C; p.S337P; 12:111447207-111447207

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.821C>A; p.T274N; 12:111446841-111446841

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1174C>T; p.R392W; 12:111447482-111447482

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1174C>T; p.R392W; 12:111447482-111447482

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.700G>A; p.D234N; 12:111418845-111418845

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.700G>A; p.D234N; 12:111418845-111418845

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_veraSubstitution - Missense

c.700G>A; p.D234N; 12:111418845-111418845

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.700G>A; p.D234N; 12:111418845-111418845

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.668C>T; p.A223V; 12:111418813-111418813

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.668C>T; p.A223V; 12:111418813-111418813

 pancreascarcinomaSubstitution - Missense

c.700G>A; p.D234N; 12:111418845-111418845

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosisSubstitution - Missense

c.1079C>G; p.S360C; 12:111447387-111447387

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1645C>T; p.R549*; 12:111448219-111448219

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.156T>G; p.H52Q; 12:111418301-111418301

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

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