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

Basic Information

Gene ID

406

Name

ARNTL

Synonymous

aryl hydrocarbon receptor nuclear translocator-like;ARNTL;aryl hydrocarbon receptor nuclear translocator-like

Definition

ARNT-like protein 1, brain and muscle|PAS domain-containing protein 3|aryl hydrocarbon receptor nuclear translocator-like protein 1|bHLH-PAS protein JAP3|basic-helix-loop-helix-PAS orphan MOP3|basic-helix-loop-helix-PAS protein MOP3|brain and muscle ARNT-

Position

11p15

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 0.08.

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.1024C>G; p.R342G; 11:13372369-13372369

 skinmalignant_melanomaSubstitution - Missense

c.1463G>A; p.R488Q; 11:13378388-13378388

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.435T>G; p.D145E; 11:13360400-13360400

 pancreascarcinomaSubstitution - Missense

c.254G>A; p.R85Q; 11:13358466-13358466

 ovaryother; neoplasmSubstitution - Missense

c.968T>C; p.V323A; 11:13372313-13372313

 breastcarcinomaSubstitution - Missense

c.197A>C; p.H66P; 11:13357072-13357072

 thyroidother; neoplasmSubstitution - Missense

c.1536G>A; p.S512S; 11:13381176-13381176

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1536G>A; p.S512S; 11:13381176-13381176

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1642C>G; p.P548A; 11:13385716-13385716

 thyroidother; neoplasmSubstitution - Missense

c.180-8delC; p.?; 11:13357047-13357047

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.731G>A; p.R244Q; 11:13369678-13369678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264G>T; p.M88I; 11:13358476-13358476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.309C>T; p.N103N; 11:13358521-13358521

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.184G>C; p.E62Q; 11:13357059-13357059

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.553-1G>T; p.?; 11:13366664-13366664

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1096G>T; p.E366*; 11:13374126-13374126

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.250C>T; p.R84C; 11:13358462-13358462

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.50C>T; p.S17F; 11:13354358-13354358

 skinmalignant_melanomaSubstitution - Missense

c.1388A>T; p.D463V; 11:13376705-13376705

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.163G>T; p.D55Y; 11:13356761-13356761

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1499A>C; p.E500A; 11:13378424-13378424

 livercarcinomaSubstitution - Missense

c.1499A>C; p.E500A; 11:13378424-13378424

 livercarcinomaSubstitution - Missense

c.1827T>C; p.D609D; 11:13386705-13386705

 livercarcinomaSubstitution - coding silent

c.588G>A; p.L196L; 11:13366700-13366700

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.943G>A; p.A315T; 11:13372288-13372288

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1211A>C; p.K404T; 11:13375651-13375651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.179+6A>G; p.?; 11:13356783-13356783

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1699G>C; p.D567H; 11:13385773-13385773

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1186G>T; p.E396*; 11:13375626-13375626

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.1182G>A; p.T394T; 11:13375622-13375622

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.64G>A; p.D22N; 11:13354372-13354372

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.661G>T; p.D221Y; 11:13366773-13366773

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1789_1791delGCA; p.A598delA; 11:13386667-13386669

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.1341C>T; p.G447G; 11:13376658-13376658

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.713G>A; p.R238Q; 11:13369660-13369660

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.713G>A; p.R238Q; 11:13369660-13369660

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.418A>T; p.T140S; 11:13360383-13360383

 breastcarcinomaSubstitution - Missense

c.14G>T; p.R5I; 11:13354322-13354322

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1577C>T; p.T526M; 11:13381217-13381217

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.222-8T>C; p.?; 11:13358426-13358426

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.109C>T; p.R37C; 11:13354417-13354417

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.109C>T; p.R37C; 11:13354417-13354417

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.829A>C; p.S277R; 11:13372174-13372174

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.741C>A; p.F247L; 11:13369688-13369688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.734G>A; p.R245H; 11:13369681-13369681

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1718-10C>T; p.?; 11:13386586-13386586

 ovaryother; neoplasmUnknown

c.823C>T; p.R275*; 11:13372168-13372168

 skinmalignant_melanomaSubstitution - Nonsense

c.1297A>G; p.I433V; 11:13375737-13375737

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1848T>A; p.V616V; 11:13386726-13386726

 ovaryother; neoplasmSubstitution - coding silent

c.408C>T; p.N136N; 11:13360373-13360373

 breastcarcinomaSubstitution - coding silent

c.328G>T; p.D110Y; 11:13358540-13358540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.459+5G>T; p.?; 11:13360429-13360429

 livercarcinomaUnknown

c.459+5G>T; p.?; 11:13360429-13360429

 livercarcinomaUnknown

c.1782T>C; p.N594N; 11:13386660-13386660

 breastcarcinomaSubstitution - coding silent

c.1121A>G; p.E374G; 11:13374151-13374151

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.987C>T; p.N329N; 11:13372332-13372332

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1840_1841GG>AA; p.G614N; 11:13386718-13386719

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.420T>G; p.T140T; 11:13360385-13360385

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1029C>T; p.H343H; 11:13372374-13372374

 breastcarcinomaSubstitution - coding silent

c.1113G>A; p.S371S; 11:13374143-13374143

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.211A>C; p.K71Q; 11:13357086-13357086

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1277G>A; p.W426*; 11:13375717-13375717

 ovaryother; neoplasmSubstitution - Nonsense

c.1181C>T; p.T394M; 11:13375621-13375621

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.830G>T; p.S277I; 11:13372175-13372175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1181C>T; p.T394M; 11:13375621-13375621

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.944C>G; p.A315G; 11:13372289-13372289

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.944C>G; p.A315G; 11:13372289-13372289

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1252C>T; p.R418*; 11:13375692-13375692

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.824G>A; p.R275Q; 11:13372169-13372169

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1030G>A; p.A344T; 11:13372375-13372375

 livercarcinomaSubstitution - Missense

c.1030G>A; p.A344T; 11:13372375-13372375

 stomachadenocarcinomaSubstitution - Missense

c.1030G>A; p.A344T; 11:13372375-13372375

 livercarcinomaSubstitution - Missense

c.1104A>G; p.L368L; 11:13374134-13374134

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.725G>C; p.G242A; 11:13369672-13369672

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.848G>T; p.S283I; 11:13372193-13372193

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.520G>T; p.E174*; 11:13365560-13365560

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1541C>T; p.S514F; 11:13381181-13381181

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887G>T; p.G296V; 11:13372232-13372232

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1581T>C; p.P527P; 11:13381221-13381221

 central_nervous_system; braingliomaSubstitution - coding silent

c.779T>C; p.V260A; 11:13369726-13369726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1009A>G; p.M337V; 11:13372354-13372354

 livercarcinomaSubstitution - Missense

c.1009A>G; p.M337V; 11:13372354-13372354

 livercarcinomaSubstitution - Missense

c.989G>A; p.G330E; 11:13372334-13372334

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.433G>A; p.D145N; 11:13360398-13360398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.670A>T; p.T224S; 11:13366782-13366782

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.248G>A; p.R83Q; 11:13358460-13358460

 pancreascarcinomaSubstitution - Missense

c.110G>A; p.R37H; 11:13354418-13354418

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.110G>A; p.R37H; 11:13354418-13354418

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1643C>A; p.P548H; 11:13385717-13385717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.540C>G; p.L180L; 11:13365580-13365580

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.221+1G>T; p.?; 11:13357097-13357097

 lungcarcinoma; adenocarcinomaUnknown

c.1062G>C; p.Q354H; 11:13372407-13372407

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1062G>C; p.Q354H; 11:13372407-13372407

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.904G>A; p.E302K; 11:13372249-13372249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.251G>A; p.R84H; 11:13358463-13358463

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.R84H; 11:13358463-13358463

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.904G>A; p.E302K; 11:13372249-13372249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.904G>A; p.E302K; 11:13372249-13372249

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.R84H; 11:13358463-13358463

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.593C>T; p.P198L; 11:13366705-13366705

 skinmalignant_melanomaSubstitution - Missense

c.813G>T; p.K271N; 11:13369760-13369760

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.892G>T; p.D298Y; 11:13372237-13372237

 livercarcinomaSubstitution - Missense

c.892G>T; p.D298Y; 11:13372237-13372237

 livercarcinomaSubstitution - Missense

c.1696T>C; p.S566P; 11:13385770-13385770

 skinmalignant_melanomaSubstitution - Missense

c.871C>A; p.P291T; 11:13372216-13372216

 pancreascarcinomaSubstitution - Missense

c.871C>A; p.P291T; 11:13372216-13372216

 pancreascarcinomaSubstitution - Missense

c.871C>A; p.P291T; 11:13372216-13372216

 pancreascarcinomaSubstitution - Missense

c.1289T>G; p.V430G; 11:13375729-13375729

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.358C>T; p.Q120*; 11:13358570-13358570

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.496C>A; p.R166R; 11:13365536-13365536

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.358C>T; p.Q120*; 11:13358570-13358570

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.1503A>G; p.E501E; 11:13378428-13378428

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.56_57insC; p.T21fs*25; 11:13354364-13354365

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

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