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

Basic Information

Gene ID

26136

Name

TES

Synonymous

testin LIM domain protein;TES;testin LIM domain protein

Definition

testin|testis derived transcript (3 LIM domains)

Position

7q31.2

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

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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 0.19.

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.649G>T; p.A217S; 7:116250443-116250443

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665T>C; p.M222T; 7:116250459-116250459

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.172_173insA; p.E59fs*10; 7:116249078-116249079

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.68T>A; p.L23*; 7:116234574-116234574

 pancreascarcinomaSubstitution - Nonsense

c.420_421delAG; p.E141fs*17; 7:116250214-116250215

 bone; pelvischondrosarcomaDeletion - Frameshift

c.553G>A; p.E185K; 7:116250347-116250347

 skinmalignant_melanomaSubstitution - Missense

c.553G>A; p.E185K; 7:116250347-116250347

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.472G>A; p.D158N; 7:116250266-116250266

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.899G>A; p.R300Q; 7:116251956-116251956

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.254C>T; p.P85L; 7:116249160-116249160

 skinmalignant_melanomaSubstitution - Missense

c.91G>A; p.G31R; 7:116234597-116234597

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.437G>A; p.R146Q; 7:116250231-116250231

 breastcarcinomaSubstitution - Missense

c.1121G>A; p.R374Q; 7:116257337-116257337

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.186A>G; p.K62K; 7:116249092-116249092

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.660G>A; p.G220G; 7:116250454-116250454

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.660G>A; p.G220G; 7:116250454-116250454

 breastcarcinomaSubstitution - coding silent

c.942C>A; p.T314T; 7:116252341-116252341

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1178G>A; p.C393Y; 7:116257394-116257394

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1262C>A; p.S421Y; 7:116257478-116257478

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.260A>G; p.Y87C; 7:116249166-116249166

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.284C>T; p.T95M; 7:116249190-116249190

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.284C>T; p.T95M; 7:116249190-116249190

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1032T>C; p.N344N; 7:116252431-116252431

 breastcarcinomaSubstitution - coding silent

c.284C>T; p.T95M; 7:116249190-116249190

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.284C>T; p.T95M; 7:116249190-116249190

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.118A>G; p.I40V; 7:116249024-116249024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.159C>T; p.V53V; 7:116249065-116249065

 skinmalignant_melanomaSubstitution - coding silent

c.915C>T; p.D305D; 7:116251972-116251972

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.506C>T; p.P169L; 7:116250300-116250300

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.506C>T; p.P169L; 7:116250300-116250300

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.506C>T; p.P169L; 7:116250300-116250300

 large_intestine; coloncarcinomaSubstitution - Missense

c.506C>T; p.P169L; 7:116250300-116250300

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.181C>T; p.R61*; 7:116249087-116249087

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.775A>T; p.K259*; 7:116251832-116251832

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.334G>A; p.E112K; 7:116249240-116249240

 breastcarcinomaSubstitution - Missense

c.97G>A; p.E33K; 7:116234603-116234603

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.E33K; 7:116234603-116234603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.E33K; 7:116234603-116234603

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.E33K; 7:116234603-116234603

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.E33K; 7:116234603-116234603

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1133A>G; p.N378S; 7:116257349-116257349

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.618G>T; p.M206I; 7:116250412-116250412

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.170A>C; p.N57T; 7:116249076-116249076

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.908G>T; p.G303V; 7:116251965-116251965

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.297T>A; p.A99A; 7:116249203-116249203

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.829G>A; p.D277N; 7:116251886-116251886

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.909C>A; p.G303G; 7:116251966-116251966

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.92G>C; p.G31A; 7:116234598-116234598

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.840delT; p.W282fs*26; 7:116251897-116251897

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.889G>T; p.E297*; 7:116251946-116251946

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.863A>G; p.Y288C; 7:116251920-116251920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.125G>A; p.R42H; 7:116249031-116249031

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.125G>A; p.R42H; 7:116249031-116249031

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.125G>A; p.R42H; 7:116249031-116249031

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.888C>T; p.S296S; 7:116251945-116251945

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.217A>G; p.T73A; 7:116249123-116249123

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.124C>T; p.R42C; 7:116249030-116249030

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.677C>A; p.S226Y; 7:116250471-116250471

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.124C>T; p.R42C; 7:116249030-116249030

 skinmalignant_melanomaSubstitution - Missense

c.808A>C; p.T270P; 7:116251865-116251865

 skin; trunkmalignant_melanomaSubstitution - Missense

c.647C>T; p.P216L; 7:116250441-116250441

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1087G>A; p.G363R; 7:116257303-116257303

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.661G>T; p.A221S; 7:116250455-116250455

 pancreascarcinomaSubstitution - Missense

c.433T>A; p.Y145N; 7:116250227-116250227

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.662C>T; p.A221V; 7:116250456-116250456

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1130A>C; p.Y377S; 7:116257346-116257346

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1057_1058insT; p.Y353fs*26; 7:116252456-116252457

 ovarycarcinomaInsertion - Frameshift

c.1057_1058insT; p.Y353fs*26; 7:116252456-116252457

 ovarycarcinomaInsertion - Frameshift

c.43G>A; p.E15K; 7:116234549-116234549

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1112A>T; p.E371V; 7:116257328-116257328

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.285G>A; p.T95T; 7:116249191-116249191

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.692G>T; p.R231I; 7:116250486-116250486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.983G>A; p.C328Y; 7:116252382-116252382

 ovaryother; neoplasmSubstitution - Missense

c.1136A>G; p.N379S; 7:116257352-116257352

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.939T>C; p.Y313Y; 7:116252338-116252338

 large_intestine; colonNSSubstitution - coding silent

c.587G>T; p.C196F; 7:116250381-116250381

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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