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

Basic Information

Gene ID

7067

Name

THRA

Synonymous

thyroid hormone receptor, alpha;THRA;thyroid hormone receptor, alpha

Definition

EAR-7|ERBA-related 7|V-erbA-related protein 7|c-erbA-alpha|nuclear receptor subfamily 1 group A member 1|thyroid hormone receptor alpha|thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)|thyroid normone nucle

Position

17q11.2

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 0.06.

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.197G>A; p.R66H; 17:40077583-40077583

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.608C>T; p.S203F; 17:40086738-40086738

 skinmalignant_melanomaSubstitution - Missense

c.1220T>C; p.V407A; 17:40093129-40093129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.813C>T; p.S271S; 17:40088331-40088331

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1386C>T; p.D462D; 17:40093295-40093295

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.196C>T; p.R66C; 17:40077582-40077582

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.733G>A; p.E245K; 17:40088251-40088251

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1011G>A; p.K337K; 17:40089234-40089234

 pancreascarcinomaSubstitution - coding silent

c.1071A>G; p.K357K; 17:40089294-40089294

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.666C>G; p.I222M; 17:40086796-40086796

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.233G>A; p.R78H; 17:40083845-40083845

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.222+1G>A; p.?; 17:40077609-40077609

 stomachcarcinoma; adenocarcinomaUnknown

c.45G>T; p.E15D; 17:40074533-40074533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1278C>G; p.L426L; 17:40093187-40093187

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.316C>T; p.Q106*; 17:40083928-40083928

 prostatecarcinomaSubstitution - Nonsense

c.1048G>T; p.E350*; 17:40089271-40089271

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.813C>A; p.S271R; 17:40088331-40088331

 skinmalignant_melanomaSubstitution - Missense

c.259C>T; p.P87S; 17:40083871-40083871

 skinmalignant_melanomaSubstitution - Missense

c.1131G>A; p.S377S; 17:40093040-40093040

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1131G>A; p.S377S; 17:40093040-40093040

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.876G>T; p.L292L; 17:40088394-40088394

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.32G>T; p.G11V; 17:40074520-40074520

 breastcarcinomaSubstitution - Missense

c.1240C>T; p.R414W; 17:40093149-40093149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.892G>A; p.A298T; 17:40088410-40088410

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.61T>A; p.S21T; 17:40076878-40076878

 skinmalignant_melanomaSubstitution - Missense

c.972A>G; p.L324L; 17:40088490-40088490

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.311G>A; p.R104H; 17:40083923-40083923

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.808G>A; p.E270K; 17:40088326-40088326

 skinmalignant_melanomaSubstitution - Missense

c.1162C>T; p.R388W; 17:40093071-40093071

 salivary_gland; mouth_floorcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.203T>C; p.I68T; 17:40077589-40077589

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.982+2T>C; p.?; 17:40088502-40088502

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.780C>T; p.S260S; 17:40088298-40088298

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.942G>T; p.T314T; 17:40088460-40088460

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1280A>G; p.Q427R; 17:40093189-40093189

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.432G>A; p.R144R; 17:40084671-40084671

 livercarcinomaSubstitution - coding silent

c.432G>A; p.R144R; 17:40084671-40084671

 livercarcinomaSubstitution - coding silent

c.1410G>A; p.P470P; 17:40093319-40093319

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1374C>T; p.V458V; 17:40093283-40093283

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1374C>T; p.V458V; 17:40093283-40093283

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.351C>T; p.A117A; 17:40083963-40083963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.891C>T; p.D297D; 17:40088409-40088409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.190C>T; p.H64Y; 17:40077576-40077576

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.392G>T; p.R131L; 17:40084631-40084631

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.232C>T; p.R78C; 17:40083844-40083844

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1083G>A; p.P361P; 17:40089306-40089306

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.880G>A; p.V294I; 17:40088398-40088398

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.348C>T; p.I116I; 17:40083960-40083960

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.484C>G; p.P162A; 17:40084723-40084723

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.236G>A; p.R79H; 17:40083848-40083848

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.236G>A; p.R79H; 17:40083848-40083848

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.236G>A; p.R79H; 17:40083848-40083848

 central_nervous_system; braingliomaSubstitution - Missense

c.854A>G; p.E285G; 17:40088372-40088372

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.723+2T>A; p.?; 17:40086855-40086855

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.871G>A; p.G291S; 17:40088389-40088389

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1210G>A; p.G404R; 17:40093119-40093119

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.618C>T; p.D206D; 17:40086748-40086748

 breastcarcinomaSubstitution - coding silent

c.745A>G; p.I249V; 17:40088263-40088263

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.395T>G; p.V132G; 17:40084634-40084634

 breastcarcinomaSubstitution - Missense

c.891C>A; p.D297E; 17:40088409-40088409

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.138C>T; p.Y46Y; 17:40077524-40077524

 skinmalignant_melanomaSubstitution - coding silent

c.101C>T; p.S34F; 17:40076918-40076918

 skinmalignant_melanomaSubstitution - Missense

c.1183G>A; p.V395I; 17:40093092-40093092

 pancreascarcinomaSubstitution - Missense

c.1183G>A; p.V395I; 17:40093092-40093092

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.648C>T; p.S216S; 17:40086778-40086778

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.764G>A; p.C255Y; 17:40088282-40088282

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.216C>T; p.G72G; 17:40077602-40077602

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.862A>G; p.K288E; 17:40088380-40088380

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.626A>G; p.K209R; 17:40086756-40086756

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1325G>A; p.R442H; 17:40093234-40093234

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.35C>G; p.S12*; 17:40074523-40074523

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.641C>T; p.A214V; 17:40086771-40086771

 skinmalignant_melanomaSubstitution - Missense

c.1268C>A; p.A423E; 17:40093177-40093177

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.801C>T; p.Y267Y; 17:40088319-40088319

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.433C>T; p.R145W; 17:40084672-40084672

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1323G>T; p.Q441H; 17:40093232-40093232

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.91G>A; p.G31S; 17:40076908-40076908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.645C>T; p.F215F; 17:40086775-40086775

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1110G>A; p.K370K; 17:40089333-40089333

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.363C>T; p.A121A; 17:40083975-40083975

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.355G>T; p.G119C; 17:40083967-40083967

 large_intestine; coloncarcinomaSubstitution - Missense

c.355G>T; p.G119C; 17:40083967-40083967

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.441G>T; p.K147N; 17:40084680-40084680

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.473C>A; p.P158Q; 17:40084712-40084712

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.663C>T; p.I221I; 17:40086793-40086793

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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