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

Basic Information

Gene ID

8454

Name

CUL1

Synonymous

cullin 1;CUL1;cullin 1

Definition

CUL-1|cullin-1

Position

7q36.1

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 0.15.

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.721G>C; p.E241Q; 7:148760428-148760428

 breastcarcinomaSubstitution - Missense

c.1369G>C; p.E457Q; 7:148787010-148787010

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1574T>C; p.L525S; 7:148788651-148788651

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.723G>T; p.E241D; 7:148760430-148760430

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1313A>T; p.E438V; 7:148786565-148786565

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.436C>T; p.R146C; 7:148757103-148757103

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.436C>T; p.R146C; 7:148757103-148757103

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.916G>C; p.E306Q; 7:148766687-148766687

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.436C>T; p.R146C; 7:148757103-148757103

 breastcarcinomaSubstitution - Missense

c.660A>G; p.A220A; 7:148760367-148760367

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.482C>T; p.S161L; 7:148757149-148757149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.676A>T; p.T226S; 7:148760383-148760383

 skin; armmalignant_melanomaSubstitution - Missense

c.1914A>C; p.Q638H; 7:148797826-148797826

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.624C>T; p.Y208Y; 7:148759637-148759637

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1937C>T; p.S646L; 7:148797849-148797849

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1067G>A; p.G356E; 7:148767733-148767733

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1937C>T; p.S646L; 7:148797849-148797849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1937C>T; p.S646L; 7:148797849-148797849

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.437G>A; p.R146H; 7:148757104-148757104

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1460G>A; p.S487N; 7:148787101-148787101

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.484-2A>G; p.?; 7:148759302-148759302

 stomachcarcinoma; adenocarcinomaUnknown

c.95A>G; p.Y32C; 7:148730217-148730217

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1839G>A; p.Q613Q; 7:148792758-148792758

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1518C>T; p.R506R; 7:148788595-148788595

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.625G>A; p.V209M; 7:148759638-148759638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2309A>G; p.D770G; 7:148800560-148800560

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.866G>A; p.R289K; 7:148766637-148766637

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1627G>A; p.G543R; 7:148789779-148789779

 skinmalignant_melanomaSubstitution - Missense

c.1271G>C; p.R424P; 7:148784050-148784050

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1271G>C; p.R424P; 7:148784050-148784050

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2039T>C; p.L680S; 7:148798580-148798580

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.60C>T; p.I20I; 7:148730182-148730182

 skinmalignant_melanomaSubstitution - coding silent

c.1593A>G; p.L531L; 7:148788670-148788670

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1675-7T>C; p.?; 7:148790303-148790303

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1397A>C; p.Y466S; 7:148787038-148787038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2138C>T; p.A713V; 7:148799276-148799276

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1418G>T; p.R473M; 7:148787059-148787059

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.534+2T>C; p.?; 7:148759356-148759356

 stomachcarcinoma; adenocarcinomaUnknown

c.2138C>T; p.A713V; 7:148799276-148799276

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1382T>G; p.V461G; 7:148787023-148787023

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1991A>G; p.K664R; 7:148797980-148797980

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.197G>T; p.G66V; 7:148754032-148754032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.112G>A; p.A38T; 7:148730234-148730234

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2197G>A; p.E733K; 7:148799335-148799335

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2290C>T; p.R764*; 7:148800541-148800541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2290C>T; p.R764*; 7:148800541-148800541

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2235A>T; p.R745R; 7:148799373-148799373

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2112G>T; p.E704D; 7:148798653-148798653

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.658G>A; p.A220T; 7:148760365-148760365

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.503G>C; p.R168T; 7:148759323-148759323

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1066G>T; p.G356*; 7:148767732-148767732

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.380G>A; p.R127Q; 7:148757047-148757047

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.658G>A; p.A220T; 7:148760365-148760365

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.503G>C; p.R168T; 7:148759323-148759323

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1428C>G; p.H476Q; 7:148787069-148787069

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1343A>G; p.Q448R; 7:148786595-148786595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2196C>T; p.G732G; 7:148799334-148799334

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2185C>T; p.Q729*; 7:148799323-148799323

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2274G>T; p.E758D; 7:148800525-148800525

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2196C>T; p.G732G; 7:148799334-148799334

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1453G>A; p.E485K; 7:148787094-148787094

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.2094C>G; p.T698T; 7:148798635-148798635

 breastcarcinomaSubstitution - coding silent

c.1453G>A; p.E485K; 7:148787094-148787094

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1453G>A; p.E485K; 7:148787094-148787094

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.855T>C; p.D285D; 7:148766626-148766626

 breastcarcinomaSubstitution - coding silent

c.1453G>A; p.E485K; 7:148787094-148787094

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1453G>A; p.E485K; 7:148787094-148787094

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1123delA; p.K376fs*6; 7:148783822-148783822

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.469T>G; p.Y157D; 7:148757136-148757136

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.122G>A; p.R41K; 7:148730244-148730244

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1730G>A; p.R577Q; 7:148790365-148790365

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1536C>T; p.G512G; 7:148788613-148788613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.368_369GG>TT; p.W123F; 7:148757035-148757036

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1667C>T; p.P556L; 7:148789819-148789819

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2017C>A; p.L673I; 7:148798006-148798006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2266C>G; p.L756V; 7:148800517-148800517

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1840T>C; p.Y614H; 7:148792759-148792759

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1903_1904insT; p.L636fs*19; 7:148797815-148797816

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1739C>T; p.T580M; 7:148790374-148790374

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2278G>C; p.E760Q; 7:148800529-148800529

 livercarcinomaSubstitution - Missense

c.1191+8C>T; p.?; 7:148783898-148783898

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.748G>T; p.E250*; 7:148760455-148760455

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1259A>T; p.E420V; 7:148784038-148784038

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1259A>T; p.E420V; 7:148784038-148784038

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1948-6T>A; p.?; 7:148797931-148797931

 prostatecarcinomaUnknown

c.2146G>A; p.V716M; 7:148799284-148799284

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2136G>A; p.Q712Q; 7:148798677-148798677

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.422A>G; p.N141S; 7:148757089-148757089

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1529A>G; p.D510G; 7:148788606-148788606

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.451G>A; p.E151K; 7:148757118-148757118

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1216A>C; p.N406H; 7:148783995-148783995

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.757C>T; p.Q253*; 7:148760464-148760464

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2109C>T; p.I703I; 7:148798650-148798650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1711G>C; p.A571P; 7:148790346-148790346

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.457C>T; p.R153*; 7:148757124-148757124

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1517G>A; p.R506H; 7:148788594-148788594

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.341G>C; p.S114T; 7:148757008-148757008

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1517G>A; p.R506H; 7:148788594-148788594

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321H; 7:148767628-148767628

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.439C>T; p.R147C; 7:148757106-148757106

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2163G>A; p.M721I; 7:148799301-148799301

 skinmalignant_melanomaSubstitution - Missense

c.796G>C; p.A266P; 7:148766567-148766567

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.37A>C; p.K13Q; 7:148730159-148730159

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2120G>A; p.R707H; 7:148798661-148798661

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1678G>A; p.E560K; 7:148790313-148790313

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1122_1123insA; p.Y377fs*12; 7:148783821-148783822

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.2140G>A; p.A714T; 7:148799278-148799278

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1122_1123insA; p.Y377fs*12; 7:148783821-148783822

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1122_1123insA; p.Y377fs*12; 7:148783821-148783822

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.507_510delCTGT; p.L171fs*4; 7:148759327-148759330

 stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.1258G>A; p.E420K; 7:148784037-148784037

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.610G>A; p.V204I; 7:148759623-148759623

 skinmalignant_melanomaSubstitution - Missense

c.2106C>T; p.N702N; 7:148798647-148798647

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.753C>A; p.F251L; 7:148760460-148760460

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1643A>C; p.Q548P; 7:148789795-148789795

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1447G>A; p.D483N; 7:148787088-148787088

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.1447G>A; p.D483N; 7:148787088-148787088

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1447G>A; p.D483N; 7:148787088-148787088

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.25C>T; p.P9S; 7:148730147-148730147

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1327G>C; p.E443Q; 7:148786579-148786579

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.683A>G; p.Y228C; 7:148760390-148760390

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.105G>T; p.Q35H; 7:148730227-148730227

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2275A>G; p.K759E; 7:148800526-148800526

 prostatecarcinomaSubstitution - Missense

c.1856C>T; p.A619V; 7:148792775-148792775

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1018T>G; p.L340V; 7:148767684-148767684

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1911G>A; p.A637A; 7:148797823-148797823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1699A>G; p.T567A; 7:148790334-148790334

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1467C>T; p.I489I; 7:148787108-148787108

 skinmalignant_melanomaSubstitution - coding silent

c.1446C>T; p.D482D; 7:148787087-148787087

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.271C>T; p.R91*; 7:148754106-148754106

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.271C>T; p.R91*; 7:148754106-148754106

 breastcarcinomaSubstitution - Nonsense

c.733A>G; p.T245A; 7:148760440-148760440

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5C>G; p.S2W; 7:148730127-148730127

 pancreascarcinomaSubstitution - Missense

c.1938G>A; p.S646S; 7:148797850-148797850

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.874G>A; p.E292K; 7:148766645-148766645

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1661C>T; p.A554V; 7:148789813-148789813

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1256C>T; p.P419L; 7:148784035-148784035

 skinmalignant_melanomaSubstitution - Missense

c.1809G>A; p.A603A; 7:148792728-148792728

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1809G>A; p.A603A; 7:148792728-148792728

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.856G>A; p.E286K; 7:148766627-148766627

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.856G>A; p.E286K; 7:148766627-148766627

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.856G>A; p.E286K; 7:148766627-148766627

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.74G>T; p.R25I; 7:148730196-148730196

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.372A>C; p.E124D; 7:148757039-148757039

 livercarcinomaSubstitution - Missense

c.1490G>A; p.G497E; 7:148788567-148788567

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.372A>C; p.E124D; 7:148757039-148757039

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.961C>T; p.R321C; 7:148767627-148767627

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.961C>T; p.R321C; 7:148767627-148767627

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1847C>T; p.T616M; 7:148792766-148792766

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1671A>G; p.S557S; 7:148789823-148789823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.12C>G; p.T4T; 7:148730134-148730134

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2000C>T; p.T667I; 7:148797989-148797989

 skinmalignant_melanomaSubstitution - Missense

c.1782C>A; p.C594*; 7:148790417-148790417

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1391A>C; p.K464T; 7:148787032-148787032

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.838C>T; p.H280Y; 7:148766609-148766609

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2272G>C; p.E758Q; 7:148800523-148800523

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.187C>T; p.R63*; 7:148754022-148754022

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2272G>C; p.E758Q; 7:148800523-148800523

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.158G>A; p.C53Y; 7:148753993-148753993

 central_nervous_system; braingliomaSubstitution - Missense

c.2076G>A; p.Q692Q; 7:148798617-148798617

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1547A>G; p.D516G; 7:148788624-148788624

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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