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

Basic Information

Gene ID

1147

Name

CHUK

Synonymous

conserved helix-loop-helix ubiquitous kinase;CHUK;conserved helix-loop-helix ubiquitous kinase

Definition

I-kappa-B kinase 1|I-kappa-B kinase-alpha|IKK-a kinase|IkB kinase alpha subunit|Nuclear factor NFkappaB inhibitor kinase alpha|TCF-16|inhibitor of nuclear factor kappa-B kinase subunit alpha|transcription factor 16

Position

10q24-q25

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 0.22.

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.169C>T; p.R57*; 10:100225954-100225954

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.451G>A; p.V151I; 10:100220611-100220611

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.802G>A; p.V268I; 10:100218126-100218126

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.802G>A; p.V268I; 10:100218126-100218126

 thyroidother; neoplasmSubstitution - Missense

c.802G>A; p.V268I; 10:100218126-100218126

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.802G>A; p.V268I; 10:100218126-100218126

 thyroidother; neoplasmSubstitution - Missense

c.787A>T; p.S263C; 10:100218728-100218728

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1936delA; p.R646fs*22; 10:100194022-100194022

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.624G>T; p.G208G; 10:100219073-100219073

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1654C>T; p.R552C; 10:100200696-100200696

 breastcarcinomaSubstitution - Missense

c.2061A>C; p.S687S; 10:100193345-100193345

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1438T>G; p.L480V; 10:100204575-100204575

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.767G>T; p.S256I; 10:100218748-100218748

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.971T>G; p.I324S; 10:100209752-100209752

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1850_1852delAGA; p.K617delK; 10:100194106-100194108

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.555G>A; p.L185L; 10:100219279-100219279

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2113A>T; p.T705S; 10:100190964-100190964

 livercarcinomaSubstitution - Missense

c.1137T>G; p.C379W; 10:100207324-100207324

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1128+1G>T; p.?; 10:100209594-100209594

 skin; earcarcinoma; squamous_cell_carcinomaUnknown

c.428G>A; p.R143Q; 10:100220634-100220634

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.428G>A; p.R143Q; 10:100220634-100220634

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.397C>T; p.R133*; 10:100220665-100220665

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.397C>T; p.R133*; 10:100220665-100220665

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.397C>T; p.R133*; 10:100220665-100220665

 central_nervous_system; braingliomaSubstitution - Nonsense

c.397C>T; p.R133*; 10:100220665-100220665

 central_nervous_system; braingliomaSubstitution - Nonsense

c.1129-1G>C; p.?; 10:100207333-100207333

 breastcarcinoma; lobular_carcinomaUnknown

c.1129-1G>C; p.?; 10:100207333-100207333

 breastcarcinoma; lobular_carcinomaUnknown

c.1519_1520insA; p.M507fs*17; 10:100202137-100202138

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.590C>T; p.P197L; 10:100219107-100219107

 breastcarcinomaSubstitution - Missense

c.1519_1520insA; p.M507fs*17; 10:100202137-100202138

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1489C>T; p.Q497*; 10:100204524-100204524

 pancreascarcinomaSubstitution - Nonsense

c.1931G>C; p.G644A; 10:100194027-100194027

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1931G>C; p.G644A; 10:100194027-100194027

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2053C>A; p.P685T; 10:100193353-100193353

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1231+1G>T; p.?; 10:100207229-100207229

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.789C>T; p.S263S; 10:100218726-100218726

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.974C>A; p.S325Y; 10:100209749-100209749

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.427C>T; p.R143*; 10:100220635-100220635

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Nonsense

c.427C>T; p.R143*; 10:100220635-100220635

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Nonsense

c.1890T>C; p.S630S; 10:100194068-100194068

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.741G>T; p.E247D; 10:100218774-100218774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1352C>T; p.A451V; 10:100205079-100205079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1691C>T; p.A564V; 10:100200009-100200009

 pancreascarcinomaSubstitution - Missense

c.1691C>T; p.A564V; 10:100200009-100200009

 pancreascarcinomaSubstitution - Missense

c.233A>T; p.D78V; 10:100222948-100222948

 livercarcinomaSubstitution - Missense

c.1961T>C; p.L654P; 10:100193997-100193997

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1400A>G; p.N467S; 10:100204613-100204613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.233A>T; p.D78V; 10:100222948-100222948

 livercarcinomaSubstitution - Missense

c.1193T>C; p.F398S; 10:100207268-100207268

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.244G>A; p.E82K; 10:100222937-100222937

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1649G>A; p.G550E; 10:100200701-100200701

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.410A>G; p.E137G; 10:100220652-100220652

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.787A>G; p.S263G; 10:100218728-100218728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.788G>A; p.S263N; 10:100218727-100218727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1513G>A; p.E505K; 10:100202144-100202144

 breastcarcinomaSubstitution - Missense

c.670C>G; p.H224D; 10:100219027-100219027

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1129-1G>A; p.?; 10:100207333-100207333

 urinary_tract; bladdercarcinomaUnknown

c.694G>A; p.E232K; 10:100218821-100218821

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.368C>A; p.S123Y; 10:100222129-100222129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1317_1319delAGA; p.E439delE; 10:100205112-100205114

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.1918A>G; p.M640V; 10:100194040-100194040

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.401A>G; p.Y134C; 10:100220661-100220661

 livercarcinomaSubstitution - Missense

c.201-1G>T; p.?; 10:100222981-100222981

 lungcarcinoma; adenocarcinomaUnknown

c.595A>C; p.T199P; 10:100219102-100219102

 breastcarcinomaSubstitution - Missense

c.866G>T; p.G289V; 10:100218062-100218062

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1348G>T; p.A450S; 10:100205083-100205083

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.435A>G; p.L145L; 10:100220627-100220627

 skinmalignant_melanomaSubstitution - coding silent

c.757C>T; p.R253W; 10:100218758-100218758

 breastcarcinomaSubstitution - Missense

c.709A>G; p.K237E; 10:100218806-100218806

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.46G>T; p.E16*; 10:100229487-100229487

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.399A>G; p.R133R; 10:100220663-100220663

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.709A>G; p.K237E; 10:100218806-100218806

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1246A>C; p.I416L; 10:100205185-100205185

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.310C>T; p.R104*; 10:100222871-100222871

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1019G>C; p.R340P; 10:100209704-100209704

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.1423C>T; p.Q475*; 10:100204590-100204590

 oesophaguscarcinomaSubstitution - Nonsense

c.511G>T; p.D171Y; 10:100219323-100219323

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.886A>G; p.K296E; 10:100218042-100218042

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1270C>T; p.R424C; 10:100205161-100205161

 skinmalignant_melanomaSubstitution - Missense

c.1856T>C; p.I619T; 10:100194102-100194102

 large_intestine; coloncarcinomaSubstitution - Missense

c.1856T>C; p.I619T; 10:100194102-100194102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2055G>A; p.P685P; 10:100193351-100193351

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.244G>T; p.E82*; 10:100222937-100222937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.894A>T; p.P298P; 10:100218034-100218034

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1486G>T; p.E496*; 10:100204527-100204527

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1447T>G; p.F483V; 10:100204566-100204566

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.849C>T; p.D283D; 10:100218079-100218079

 skinmalignant_melanomaSubstitution - coding silent

c.2046G>A; p.W682*; 10:100193360-100193360

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.464T>C; p.V155A; 10:100220598-100220598

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.507C>G; p.A169A; 10:100219327-100219327

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2150T>G; p.L717R; 10:100190927-100190927

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.639A>C; p.E213D; 10:100219058-100219058

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1687C>T; p.R563C; 10:100200013-100200013

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1176T>C; p.T392T; 10:100207285-100207285

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1094G>A; p.R365Q; 10:100209629-100209629

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1451A>G; p.H484R; 10:100204562-100204562

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1458C>T; p.S486S; 10:100204555-100204555

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1231G>T; p.V411L; 10:100207230-100207230

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2225G>A; p.W742*; 10:100189611-100189611

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1569+1G>A; p.?; 10:100202087-100202087

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1569+1G>A; p.?; 10:100202087-100202087

 central_nervous_system; braingliomaUnknown

c.1569+1G>A; p.?; 10:100202087-100202087

 central_nervous_system; braingliomaUnknown

c.598G>A; p.A200T; 10:100219099-100219099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.571_582del12; p.E191_E194delELFE; 10:100219115-100219126

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.2013A>G; p.L671L; 10:100193393-100193393

 thyroidcarcinomaSubstitution - coding silent

c.2135A>G; p.E712G; 10:100190942-100190942

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1232-2A>T; p.?; 10:100205201-100205201

 lungcarcinoma; adenocarcinomaUnknown

c.705G>A; p.K235K; 10:100218810-100218810

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.710A>G; p.K237R; 10:100218805-100218805

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.710A>G; p.K237R; 10:100218805-100218805

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.710A>G; p.K237R; 10:100218805-100218805

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.710A>G; p.K237R; 10:100218805-100218805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.589C>T; p.P197S; 10:100219108-100219108

 skinmalignant_melanomaSubstitution - Missense

c.710A>G; p.K237R; 10:100218805-100218805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1358T>G; p.L453*; 10:100204655-100204655

 oesophaguscarcinomaSubstitution - Nonsense

c.195G>A; p.M65I; 10:100225928-100225928

 breastcarcinomaSubstitution - Missense

c.1729+1G>A; p.?; 10:100199970-100199970

 urinary_tract; bladdercarcinomaUnknown

c.582G>T; p.E194D; 10:100219115-100219115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1773G>A; p.V591V; 10:100194478-100194478

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.751G>T; p.E251*; 10:100218764-100218764

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1617T>C; p.A539A; 10:100200733-100200733

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2019T>G; p.G673G; 10:100193387-100193387

 breastcarcinomaSubstitution - coding silent

c.352G>C; p.E118Q; 10:100222145-100222145

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1519A>G; p.M507V; 10:100202138-100202138

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2054C>T; p.P685L; 10:100193352-100193352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1183G>A; p.E395K; 10:100207278-100207278

 breastcarcinomaSubstitution - Missense

c.496C>T; p.L166L; 10:100219338-100219338

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1251G>T; p.Q417H; 10:100205180-100205180

 livercarcinomaSubstitution - Missense

c.1251G>T; p.Q417H; 10:100205180-100205180

 livercarcinomaSubstitution - Missense

c.385+1G>A; p.?; 10:100222111-100222111

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1591G>T; p.E531*; 10:100200759-100200759

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1007C>T; p.S336L; 10:100209716-100209716

 skinmalignant_melanomaSubstitution - Missense

c.398G>A; p.R133Q; 10:100220664-100220664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.268G>A; p.V90M; 10:100222913-100222913

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.916C>A; p.H306N; 10:100218012-100218012

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.709A>C; p.K237Q; 10:100218806-100218806

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.602C>G; p.T201S; 10:100219095-100219095

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.862G>A; p.G288R; 10:100218066-100218066

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2204T>C; p.M735T; 10:100190873-100190873

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.860G>C; p.R287T; 10:100218068-100218068

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1386_1387insC; p.T463fs*17; 10:100204626-100204627

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - Frameshift

c.1736C>T; p.S579F; 10:100194515-100194515

 lungcarcinoma; adenocarcinomaSubstitution - Missense

')