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

Basic Information

Gene ID

10628

Name

TXNIP

Synonymous

thioredoxin interacting protein;TXNIP;thioredoxin interacting protein

Definition

thioredoxin binding protein 2|thioredoxin-binding protein 2|thioredoxin-interacting protein|upregulated by 1,25-dihydroxyvitamin D-3|vitamin D3 up-regulated protein 1

Position

1q21.1

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 0.20.

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.529C>T; p.R177W; 1:145994974-145994974

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.73G>T; p.E25*; 1:145996194-145996194

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.129C>T; p.A43A; 1:145996138-145996138

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.39C>A; p.V13V; 1:145996228-145996228

 breastcarcinomaSubstitution - coding silent

c.1110C>A; p.F370L; 1:145994046-145994046

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1063_1064delAT; p.M355fs*14; 1:145994092-145994093

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.229C>T; p.L77F; 1:145996038-145996038

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.229C>T; p.L77F; 1:145996038-145996038

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.81G>T; p.V27V; 1:145996186-145996186

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.456T>C; p.N152N; 1:145995159-145995159

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1049C>A; p.P350H; 1:145994107-145994107

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.738A>G; p.T246T; 1:145994637-145994637

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.143C>T; p.A48V; 1:145996124-145996124

 skinmalignant_melanomaSubstitution - Missense

c.267G>C; p.V89V; 1:145995460-145995460

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.635A>C; p.K212T; 1:145994740-145994740

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.635A>C; p.K212T; 1:145994740-145994740

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.498G>T; p.K166N; 1:145995005-145995005

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.498G>T; p.K166N; 1:145995005-145995005

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.788C>T; p.S263F; 1:145994587-145994587

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.317C>A; p.P106H; 1:145995410-145995410

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514T>A; p.F172I; 1:145994989-145994989

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.795delG; p.G266fs*12; 1:145994580-145994580

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.886_887insT; p.G297fs*20; 1:145994382-145994383

 livercarcinomaInsertion - Frameshift

c.930C>T; p.A310A; 1:145994339-145994339

 kidneyother; neoplasmSubstitution - coding silent

c.1028G>C; p.R343P; 1:145994128-145994128

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.516C>A; p.F172L; 1:145994987-145994987

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.420G>C; p.K140N; 1:145995195-145995195

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.392G>A; p.R131H; 1:145995223-145995223

 breastcarcinomaSubstitution - Missense

c.731C>T; p.S244L; 1:145994644-145994644

 pancreascarcinomaSubstitution - Missense

c.557G>A; p.R186K; 1:145994946-145994946

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.653G>T; p.R218L; 1:145994722-145994722

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.93G>C; p.V31V; 1:145996174-145996174

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.920C>A; p.S307Y; 1:145994349-145994349

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.365A>G; p.D122G; 1:145995250-145995250

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.824C>A; p.S275Y; 1:145994551-145994551

 central_nervous_system; temporal_lobeglioma; ependymomaSubstitution - Missense

c.26_27insT; p.E11fs*1; 1:145996240-145996241

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1088T>A; p.I363N; 1:145994068-145994068

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1088T>A; p.I363N; 1:145994068-145994068

 large_intestine; coloncarcinomaSubstitution - Missense

c.1088T>A; p.I363N; 1:145994068-145994068

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.110A>G; p.E37G; 1:145996157-145996157

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1158_1160delCAA; p.N389delN; 1:145993867-145993869

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.463G>A; p.D155N; 1:145995152-145995152

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1158_1160delCAA; p.N389delN; 1:145993867-145993869

 breastcarcinoma; ductal_carcinomaDeletion - In frame

c.351A>C; p.K117N; 1:145995264-145995264

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4G>A; p.V2M; 1:145996263-145996263

 livercarcinomaSubstitution - Missense

c.206A>G; p.Y69C; 1:145996061-145996061

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.493G>A; p.E165K; 1:145995010-145995010

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.453C>T; p.V151V; 1:145995162-145995162

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1083C>T; p.S361S; 1:145994073-145994073

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1015C>G; p.P339A; 1:145994141-145994141

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.134G>A; p.R45K; 1:145996133-145996133

 skinmalignant_melanomaSubstitution - Missense

c.134G>A; p.R45K; 1:145996133-145996133

 skinmalignant_melanomaSubstitution - Missense

c.915A>T; p.R305S; 1:145994354-145994354

 livercarcinomaSubstitution - Missense

c.915A>T; p.R305S; 1:145994354-145994354

 livercarcinomaSubstitution - Missense

c.561A>C; p.K187N; 1:145994942-145994942

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.496_498delAAG; p.K167delK; 1:145995005-145995007

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.496_498delAAG; p.K167delK; 1:145995005-145995007

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.493G>T; p.E165*; 1:145995010-145995010

 breastcarcinomaSubstitution - Nonsense

c.782G>C; p.R261T; 1:145994593-145994593

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.385_386insT; p.D130fs*1; 1:145995229-145995230

 salivary_glandcarcinoma; adenoid_cystic_carcinomaInsertion - Frameshift

c.13A>G; p.K5E; 1:145996254-145996254

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.13A>G; p.K5E; 1:145996254-145996254

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.368A>G; p.Y123C; 1:145995247-145995247

 livercarcinomaSubstitution - Missense

c.88C>T; p.R30W; 1:145996179-145996179

 skinmalignant_melanomaSubstitution - Missense

c.198T>C; p.T66T; 1:145996069-145996069

 breastcarcinomaSubstitution - coding silent

c.1002T>C; p.Y334Y; 1:145994154-145994154

 prostatecarcinomaSubstitution - coding silent

c.787T>C; p.S263P; 1:145994588-145994588

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.500A>G; p.K167R; 1:145995003-145995003

 breastcarcinomaSubstitution - Missense

c.620G>T; p.R207L; 1:145994755-145994755

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1158C>T; p.L386L; 1:145993869-145993869

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.358T>C; p.C120R; 1:145995257-145995257

 skinmalignant_melanomaSubstitution - Missense

c.506C>T; p.S169F; 1:145994997-145994997

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.534G>A; p.V178V; 1:145994969-145994969

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.396G>T; p.P132P; 1:145995219-145995219

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1078G>C; p.D360H; 1:145994078-145994078

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.762C>A; p.S254R; 1:145994613-145994613

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.49C>T; p.P17S; 1:145996218-145996218

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.423A>C; p.K141N; 1:145995192-145995192

 pancreascarcinomaSubstitution - Missense

c.1106A>T; p.E369V; 1:145994050-145994050

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.580G>A; p.E194K; 1:145994795-145994795

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.622A>G; p.I208V; 1:145994753-145994753

 ovaryother; neoplasmSubstitution - Missense

c.1045A>T; p.T349S; 1:145994111-145994111

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.876G>A; p.L292L; 1:145994393-145994393

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1038C>T; p.S346S; 1:145994118-145994118

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1038C>T; p.S346S; 1:145994118-145994118

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1022A>G; p.D341G; 1:145994134-145994134

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.157A>G; p.K53E; 1:145996110-145996110

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1156C>T; p.L386F; 1:145993871-145993871

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.504T>A; p.V168V; 1:145994999-145994999

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.511A>G; p.M171V; 1:145994992-145994992

 breastcarcinomaSubstitution - Missense

c.536C>T; p.S179F; 1:145994967-145994967

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.6G>T; p.V2V; 1:145996261-145996261

 breastcarcinomaSubstitution - coding silent

c.595G>A; p.A199T; 1:145994780-145994780

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.996C>T; p.P332P; 1:145994160-145994160

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.996C>T; p.P332P; 1:145994160-145994160

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.26C>A; p.S9Y; 1:145996241-145996241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.26C>A; p.S9Y; 1:145996241-145996241

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.26C>A; p.S9Y; 1:145996241-145996241

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.497A>G; p.K166R; 1:145995006-145995006

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.674G>A; p.G225D; 1:145994701-145994701

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.74A>G; p.E25G; 1:145996193-145996193

 pancreascarcinomaSubstitution - Missense

c.74A>G; p.E25G; 1:145996193-145996193

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.74A>G; p.E25G; 1:145996193-145996193

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

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