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

Basic Information

Gene ID

7068

Name

THRB

Synonymous

thyroid hormone receptor, beta;THRB;thyroid hormone receptor, beta

Definition

nuclear receptor subfamily 1 group A member 2|oncogene ERBA2|thyroid hormone nuclear receptor beta variant 1|thyroid hormone receptor beta|thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)

Position

3p24.2

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

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 0.05.

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.431C>T; p.S144F; 3:24146776-24146776

 skinmalignant_melanomaSubstitution - Missense

c.955G>A; p.V319M; 3:24127688-24127688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.649G>A; p.E217K; 3:24143590-24143590

 skinmalignant_melanomaSubstitution - Missense

c.172C>T; p.L58F; 3:24190185-24190185

 skinmalignant_melanomaSubstitution - Missense

c.469A>T; p.T157S; 3:24146738-24146738

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.341C>G; p.A114G; 3:24152433-24152433

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.Q53*; 3:24190200-24190200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1354C>T; p.P452S; 3:24122916-24122916

 skinmalignant_melanomaSubstitution - Missense

c.368C>T; p.T123M; 3:24152406-24152406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1358C>T; p.P453L; 3:24122912-24122912

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.400A>G; p.T134A; 3:24146807-24146807

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.E220K; 3:24143581-24143581

 skinmalignant_melanomaSubstitution - Missense

c.144G>A; p.T48T; 3:24190213-24190213

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.164C>T; p.S55L; 3:24190193-24190193

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.164C>T; p.S55L; 3:24190193-24190193

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.144G>A; p.T48T; 3:24190213-24190213

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.144G>A; p.T48T; 3:24190213-24190213

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.205C>T; p.H69Y; 3:24190152-24190152

 skinmalignant_melanomaSubstitution - Missense

c.639G>A; p.E213E; 3:24143600-24143600

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.497T>A; p.F166Y; 3:24146710-24146710

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1307C>A; p.A436D; 3:24122963-24122963

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1312C>G; p.R438G; 3:24122958-24122958

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1381G>T; p.D461Y; 3:24122889-24122889

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417C>T; p.L139L; 3:24146790-24146790

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1205C>T; p.A402V; 3:24123065-24123065

 skinmalignant_melanomaSubstitution - Missense

c.401C>T; p.T134I; 3:24146806-24146806

 skinmalignant_melanomaSubstitution - Missense

c.571C>G; p.L191V; 3:24143668-24143668

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1377C>T; p.F459F; 3:24122893-24122893

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.159G>A; p.Q53Q; 3:24190198-24190198

 skinmalignant_melanomaSubstitution - coding silent

c.123C>T; p.S41S; 3:24190234-24190234

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1377C>T; p.F459F; 3:24122893-24122893

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.425C>T; p.S142F; 3:24146782-24146782

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37G>A; p.A13T; 3:24190320-24190320

 skinmalignant_melanomaSubstitution - Missense

c.76G>A; p.D26N; 3:24190281-24190281

 skinmalignant_melanomaSubstitution - Missense

c.727C>T; p.R243W; 3:24143512-24143512

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.76G>A; p.D26N; 3:24190281-24190281

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.949G>A; p.A317T; 3:24127694-24127694

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>T; p.P141S; 3:24146786-24146786

 skinmalignant_melanomaSubstitution - Missense

c.723A>G; p.Q241Q; 3:24143516-24143516

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.560C>T; p.A187V; 3:24143679-24143679

 skinmalignant_melanomaSubstitution - Missense

c.721C>A; p.Q241K; 3:24143518-24143518

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.373G>A; p.E125K; 3:24152401-24152401

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1299C>T; p.A433A; 3:24122971-24122971

 skinmalignant_melanomaSubstitution - coding silent

c.701C>T; p.A234V; 3:24143538-24143538

 skinmalignant_melanomaSubstitution - Missense

c.940T>C; p.S314P; 3:24127703-24127703

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.487G>T; p.E163*; 3:24146720-24146720

 skinmalignant_melanomaSubstitution - Nonsense

c.70G>C; p.E24Q; 3:24190287-24190287

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.148A>T; p.K50*; 3:24190209-24190209

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1056C>A; p.A352A; 3:24127587-24127587

 thyroidother; neoplasmSubstitution - coding silent

c.607G>A; p.E203K; 3:24143632-24143632

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.607G>A; p.E203K; 3:24143632-24143632

 skinmalignant_melanomaSubstitution - Missense

c.493C>T; p.R165C; 3:24146714-24146714

 prostatecarcinomaSubstitution - Missense

c.1348C>A; p.L450I; 3:24122922-24122922

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.995G>A; p.G332E; 3:24127648-24127648

 skinmalignant_melanomaSubstitution - Missense

c.312C>T; p.D104D; 3:24152462-24152462

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1286G>A; p.R429Q; 3:24122984-24122984

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.700G>A; p.A234T; 3:24143539-24143539

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.577G>A; p.E193K; 3:24143662-24143662

 livercarcinomaSubstitution - Missense

c.577G>A; p.E193K; 3:24143662-24143662

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.529G>A; p.D177N; 3:24146678-24146678

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1148G>A; p.R383H; 3:24123122-24123122

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.162G>T; p.S54S; 3:24190195-24190195

 pancreascarcinomaSubstitution - coding silent

c.473G>A; p.R158Q; 3:24146734-24146734

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.473G>A; p.R158Q; 3:24146734-24146734

 skinmalignant_melanomaSubstitution - Missense

c.473G>A; p.R158Q; 3:24146734-24146734

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.679G>A; p.E227K; 3:24143560-24143560

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1013G>A; p.R338Q; 3:24127630-24127630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.119A>G; p.K40R; 3:24190238-24190238

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.567G>A; p.R189R; 3:24143672-24143672

 skinmalignant_melanomaSubstitution - coding silent

c.158A>G; p.Q53R; 3:24190199-24190199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1286G>T; p.R429L; 3:24122984-24122984

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664A>G; p.I222V; 3:24143575-24143575

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.167C>T; p.P56L; 3:24190190-24190190

 skinmalignant_melanomaSubstitution - Missense

c.169C>T; p.H57Y; 3:24190188-24190188

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.666C>G; p.I222M; 3:24143573-24143573

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.78C>T; p.D26D; 3:24190279-24190279

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.657G>A; p.W219*; 3:24143582-24143582

 skinmalignant_melanomaSubstitution - Nonsense

c.597A>G; p.R199R; 3:24143642-24143642

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.596G>A; p.R199K; 3:24143643-24143643

 skinmalignant_melanomaSubstitution - Missense

c.864A>G; p.K288K; 3:24133337-24133337

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.722A>G; p.Q241R; 3:24143517-24143517

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.34A>G; p.T12A; 3:24190323-24190323

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.402C>T; p.T134T; 3:24146805-24146805

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.402C>T; p.T134T; 3:24146805-24146805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.75C>T; p.H25H; 3:24190282-24190282

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1078C>A; p.L360M; 3:24127565-24127565

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.97T>C; p.S33P; 3:24190260-24190260

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1177G>A; p.E393K; 3:24123093-24123093

 skinmalignant_melanomaSubstitution - Missense

c.1273G>A; p.V425M; 3:24122997-24122997

 oesophaguscarcinomaSubstitution - Missense

c.331G>T; p.G111C; 3:24152443-24152443

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1059C>A; p.I353I; 3:24127584-24127584

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.648C>T; p.D216D; 3:24143591-24143591

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.648C>T; p.D216D; 3:24143591-24143591

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1371A>C; p.E457D; 3:24122899-24122899

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1367T>C; p.L456S; 3:24122903-24122903

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1371A>C; p.E457D; 3:24122899-24122899

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1023G>A; p.L341L; 3:24127620-24127620

 skinmalignant_melanomaSubstitution - coding silent

c.143C>T; p.T48M; 3:24190214-24190214

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.143C>T; p.T48M; 3:24190214-24190214

 pancreascarcinomaSubstitution - Missense

c.1023G>A; p.L341L; 3:24127620-24127620

 skinmalignant_melanomaSubstitution - coding silent

c.1023G>A; p.L341L; 3:24127620-24127620

 skinmalignant_melanomaSubstitution - coding silent

c.586C>T; p.R196W; 3:24143653-24143653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.8C>T; p.P3L; 3:24228952-24228952

 skinmalignant_melanomaSubstitution - Missense

c.175A>C; p.I59L; 3:24190182-24190182

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1012C>T; p.R338W; 3:24127631-24127631

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.870G>A; p.L290L; 3:24133331-24133331

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.692C>T; p.A231V; 3:24143547-24143547

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.693G>A; p.A231A; 3:24143546-24143546

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1217A>G; p.Y406C; 3:24123053-24123053

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.653A>G; p.E218G; 3:24143586-24143586

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.174C>T; p.L58L; 3:24190183-24190183

 skinmalignant_melanomaSubstitution - coding silent

c.1055C>T; p.A352V; 3:24127588-24127588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1099G>A; p.D367N; 3:24127544-24127544

 breastcarcinomaSubstitution - Missense

c.624C>T; p.I208I; 3:24143615-24143615

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.540G>A; p.L180L; 3:24143699-24143699

 skinmalignant_melanomaSubstitution - coding silent

c.87A>C; p.L29L; 3:24190270-24190270

 skinmalignant_melanomaSubstitution - coding silent

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