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

Basic Information

Gene ID

146691

Name

TOM1L2

Synonymous

target of myb1-like 2 (chicken);TOM1L2;target of myb1-like 2 (chicken)

Definition

TOM1-like protein 2|target of Myb-like protein 2

Position

17p11.2

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 0.10.

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.1067A>G; p.D356G; 17:17861537-17861537

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1022G>T; p.R341I; 17:17862761-17862761

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.53A>T; p.E18V; 17:17907531-17907531

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1076C>A; p.A359D; 17:17861528-17861528

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.371C>T; p.P124L; 17:17882844-17882844

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.235C>T; p.R79*; 17:17884750-17884750

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.235C>T; p.R79*; 17:17884750-17884750

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.236G>A; p.R79Q; 17:17884749-17884749

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.453C>T; p.S151S; 17:17882762-17882762

 pancreascarcinomaSubstitution - coding silent

c.742G>A; p.V248I; 17:17869359-17869359

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1369C>T; p.L457L; 17:17847640-17847640

 skinmalignant_melanomaSubstitution - coding silent

c.765C>T; p.F255F; 17:17866921-17866921

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1239C>T; p.F413F; 17:17847770-17847770

 skinmalignant_melanomaSubstitution - coding silent

c.908C>T; p.S303F; 17:17866322-17866322

 skinmalignant_melanomaSubstitution - Missense

c.1028A>G; p.N343S; 17:17862755-17862755

 prostatecarcinomaSubstitution - Missense

c.1045C>T; p.R349C; 17:17862738-17862738

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.158C>T; p.A53V; 17:17898654-17898654

 skinmalignant_melanomaSubstitution - Missense

c.158C>T; p.A53V; 17:17898654-17898654

 skinmalignant_melanomaSubstitution - Missense

c.1240C>T; p.L414F; 17:17847769-17847769

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.255C>T; p.T85T; 17:17884730-17884730

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.912C>A; p.L304L; 17:17866318-17866318

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.702C>T; p.V234V; 17:17869399-17869399

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.685G>A; p.V229M; 17:17869416-17869416

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.702C>T; p.V234V; 17:17869399-17869399

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1109G>A; p.R370Q; 17:17861495-17861495

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1109G>A; p.R370Q; 17:17861495-17861495

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1109G>A; p.R370Q; 17:17861495-17861495

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1346G>A; p.R449Q; 17:17847663-17847663

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1046G>A; p.R349H; 17:17862737-17862737

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1139C>T; p.A380V; 17:17850942-17850942

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1046G>A; p.R349H; 17:17862737-17862737

 skinmalignant_melanomaSubstitution - Missense

c.1139C>T; p.A380V; 17:17850942-17850942

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1322C>A; p.P441H; 17:17847687-17847687

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.705C>T; p.T235T; 17:17869396-17869396

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.259G>A; p.V87I; 17:17884726-17884726

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.299A>C; p.E100A; 17:17884686-17884686

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1019C>T; p.T340M; 17:17862764-17862764

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.466C>T; p.P156S; 17:17882749-17882749

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.683G>A; p.R228H; 17:17869418-17869418

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1128+2T>C; p.?; 17:17861474-17861474

 stomachcarcinoma; adenocarcinomaUnknown

c.568G>C; p.E190Q; 17:17879686-17879686

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.992G>A; p.R331H; 17:17862791-17862791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1330C>T; p.R444W; 17:17847679-17847679

 large_intestine; coloncarcinomaSubstitution - Missense

c.91A>G; p.T31A; 17:17907493-17907493

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1330C>T; p.R444W; 17:17847679-17847679

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.138G>A; p.G46G; 17:17898674-17898674

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.942G>A; p.G314G; 17:17862841-17862841

 skinmalignant_melanomaSubstitution - coding silent

c.1004A>C; p.D335A; 17:17862779-17862779

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.785G>A; p.R262Q; 17:17866901-17866901

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.785G>A; p.R262Q; 17:17866901-17866901

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.785G>A; p.R262Q; 17:17866901-17866901

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.398C>T; p.S133L; 17:17882817-17882817

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328T>G; p.S110A; 17:17884657-17884657

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.459G>A; p.P153P; 17:17882756-17882756

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1135G>A; p.V379I; 17:17850946-17850946

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.388A>G; p.R130G; 17:17882827-17882827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.432G>A; p.S144S; 17:17882783-17882783

 breastcarcinomaSubstitution - coding silent

c.971C>A; p.S324*; 17:17862812-17862812

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1183G>T; p.D395Y; 17:17850898-17850898

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.357C>T; p.V119V; 17:17882858-17882858

 breastcarcinomaSubstitution - coding silent

c.480G>A; p.V160V; 17:17882735-17882735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.472C>T; p.L158L; 17:17882743-17882743

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1089T>C; p.L363L; 17:17861515-17861515

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1044G>A; p.Q348Q; 17:17862739-17862739

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.116T>C; p.I39T; 17:17907468-17907468

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1051A>G; p.T351A; 17:17862732-17862732

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.9C>T; p.F3F; 17:17972305-17972305

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.215C>A; p.T72K; 17:17898597-17898597

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.191A>G; p.Y64C; 17:17898621-17898621

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.R221H; 17:17869439-17869439

 breastcarcinomaSubstitution - Missense

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