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

Basic Information

Gene ID

10152

Name

ABI2

Synonymous

abl-interactor 2;ABI2;abl-interactor 2

Definition

abelson interactor 2|abl binding protein 3|abl interactor 2|abl-interacting protein 1 (SH3-containing protein)|abl-interactor protein 2b|arg protein tyrosine kinase-binding protein|arg-binding protein 1

Position

2q33

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

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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 0.16.

The copy number variations for various cancers

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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.1224G>A; p.P408P; 2:203417053-203417053

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.917G>A; p.R306H; 2:203402660-203402660

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.216C>T; p.V72V; 2:203366975-203366975

 skinmalignant_melanomaSubstitution - coding silent

c.1235G>A; p.R412H; 2:203417064-203417064

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.846G>A; p.Q282Q; 2:203402589-203402589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.5C>T; p.A2V; 2:203328519-203328519

 skinmalignant_melanomaSubstitution - Missense

c.1402G>C; p.E468Q; 2:203427326-203427326

 breastcarcinomaSubstitution - Missense

c.1401T>C; p.V467V; 2:203427325-203427325

 prostatecarcinomaSubstitution - coding silent

c.525C>T; p.P175P; 2:203391108-203391108

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.95A>C; p.Y32S; 2:203328609-203328609

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.95A>C; p.Y32S; 2:203328609-203328609

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.529A>G; p.S177G; 2:203391112-203391112

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.R193C; 2:203394716-203394716

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1084G>T; p.D362Y; 2:203416913-203416913

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1374G>A; p.V458V; 2:203427298-203427298

 livercarcinomaSubstitution - coding silent

c.218T>G; p.L73R; 2:203366977-203366977

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.218T>G; p.L73R; 2:203366977-203366977

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.22C>T; p.L8L; 2:203328536-203328536

 pancreascarcinomaSubstitution - coding silent

c.533C>T; p.P178L; 2:203391116-203391116

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.403C>T; p.R135C; 2:203380325-203380325

 breastcarcinomaSubstitution - Missense

c.403C>T; p.R135C; 2:203380325-203380325

 skin; trunkmalignant_melanomaSubstitution - Missense

c.858G>T; p.M286I; 2:203402601-203402601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.669G>T; p.V223V; 2:203394808-203394808

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.568T>C; p.S190P; 2:203394707-203394707

 thyroidcarcinomaSubstitution - Missense

c.672G>A; p.R224R; 2:203394811-203394811

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.692G>T; p.R231I; 2:203394831-203394831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.870C>G; p.A290A; 2:203402613-203402613

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.903G>A; p.S301S; 2:203402646-203402646

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.660G>C; p.Q220H; 2:203394799-203394799

 pancreascarcinomaSubstitution - Missense

c.61G>C; p.D21H; 2:203328575-203328575

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1342G>A; p.D448N; 2:203427266-203427266

 breastcarcinomaSubstitution - Missense

c.1234C>T; p.R412C; 2:203417063-203417063

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.757C>T; p.R253*; 2:203395705-203395705

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.757C>T; p.R253*; 2:203395705-203395705

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.171C>T; p.S57S; 2:203366930-203366930

 skinmalignant_melanomaSubstitution - coding silent

c.1329C>G; p.I443M; 2:203427253-203427253

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1382T>C; p.L461P; 2:203427306-203427306

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.404G>A; p.R135H; 2:203380326-203380326

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.436C>A; p.L146I; 2:203380358-203380358

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.145G>T; p.E49*; 2:203366904-203366904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.145G>T; p.E49*; 2:203366904-203366904

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.923C>A; p.P308H; 2:203402666-203402666

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1414C>T; p.H472Y; 2:203427338-203427338

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.687T>A; p.N229K; 2:203394826-203394826

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.320G>A; p.R107K; 2:203380242-203380242

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.984G>T; p.Q328H; 2:203402727-203402727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1308A>G; p.E436E; 2:203427232-203427232

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.499C>T; p.R167C; 2:203391082-203391082

 pancreascarcinomaSubstitution - Missense

c.875G>A; p.R292H; 2:203402618-203402618

 prostatecarcinomaSubstitution - Missense

c.578G>A; p.R193H; 2:203394717-203394717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517C>G; p.Q173E; 2:203391100-203391100

 breastcarcinomaSubstitution - Missense

c.82C>A; p.R28R; 2:203328596-203328596

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1347T>G; p.G449G; 2:203427271-203427271

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.322G>T; p.E108*; 2:203380244-203380244

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.469A>G; p.T157A; 2:203391052-203391052

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1386T>G; p.F462L; 2:203427310-203427310

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.730A>G; p.S244G; 2:203395678-203395678

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.730A>G; p.S244G; 2:203395678-203395678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860A>C; p.N287T; 2:203402603-203402603

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.584T>C; p.L195P; 2:203394723-203394723

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.901T>A; p.S301T; 2:203402644-203402644

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1088C>T; p.T363I; 2:203416917-203416917

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.651C>G; p.P217P; 2:203394790-203394790

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.393_394insACGACC; p.E131_R132insTT; 2:203380315-203380316

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - In frame

c.564G>A; p.R188R; 2:203394703-203394703

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.564G>A; p.R188R; 2:203394703-203394703

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1405T>C; p.S469P; 2:203427329-203427329

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1186G>A; p.V396I; 2:203417015-203417015

 livercarcinomaSubstitution - Missense

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