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

Basic Information

Gene ID

23327

Name

NEDD4L

Synonymous

neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase;NEDD4L;neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase NEDD4-like|ubiquitin-protein ligase Rsp5

Position

18q21.31

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 0.06.

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.704A>T; p.N235I; 18:58329018-58329018

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2683G>A; p.E895K; 18:58390733-58390733

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.530T>A; p.V177D; 18:58325012-58325012

 skinmalignant_melanomaSubstitution - Missense

c.2320G>A; p.G774R; 18:58383273-58383273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329T>A; p.V110E; 18:58316013-58316013

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2118C>G; p.L706L; 18:58367860-58367860

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.2624G>A; p.R875H; 18:58390674-58390674

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2624G>A; p.R875H; 18:58390674-58390674

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2624G>A; p.R875H; 18:58390674-58390674

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2786C>A; p.P929H; 18:58396187-58396187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2099C>T; p.A700V; 18:58367841-58367841

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2614G>A; p.A872T; 18:58390664-58390664

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.474T>C; p.G158G; 18:58323295-58323295

 thyroidother; neoplasmSubstitution - coding silent

c.294A>G; p.R98R; 18:58252051-58252051

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.570_572delTCC; p.P194delP; 18:58325052-58325054

 oesophaguscarcinoma; adenocarcinomaDeletion - In frame

c.1774-2A>G; p.?; 18:58365997-58365997

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1880G>C; p.R627T; 18:58366105-58366105

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2416G>A; p.A806T; 18:58385575-58385575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.91G>A; p.D31N; 18:58165830-58165830

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.689C>T; p.S230F; 18:58329003-58329003

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1703G>T; p.G568V; 18:58357248-58357248

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.571C>T; p.P191S; 18:58325053-58325053

 skinmalignant_melanomaSubstitution - Missense

c.758G>T; p.R253M; 18:58329072-58329072

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.498G>A; p.Q166Q; 18:58323319-58323319

 breastcarcinomaSubstitution - coding silent

c.2404A>G; p.K802E; 18:58385563-58385563

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2788C>G; p.P930A; 18:58396189-58396189

 breastcarcinomaSubstitution - Missense

c.1617C>T; p.H539H; 18:58351014-58351014

 breastcarcinomaSubstitution - coding silent

c.1943T>A; p.F648Y; 18:58366168-58366168

 breastcarcinomaSubstitution - Missense

c.52G>C; p.E18Q; 18:58165791-58165791

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.52G>C; p.E18Q; 18:58165791-58165791

 breastcarcinomaSubstitution - Missense

c.616T>A; p.L206I; 18:58325098-58325098

 livercarcinomaSubstitution - Missense

c.1216T>C; p.S406P; 18:58341696-58341696

 skinmalignant_melanomaSubstitution - Missense

c.692C>T; p.S231L; 18:58329006-58329006

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1025G>T; p.S342I; 18:58333852-58333852

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2509G>T; p.D837Y; 18:58389106-58389106

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.786G>A; p.E262E; 18:58329100-58329100

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.384T>C; p.F128F; 18:58322460-58322460

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1342C>G; p.R448G; 18:58342930-58342930

 breastcarcinomaSubstitution - Missense

c.1816A>C; p.N606H; 18:58366041-58366041

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.60T>C; p.R20R; 18:58165799-58165799

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1955C>A; p.S652Y; 18:58366180-58366180

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.2655A>C; p.T885T; 18:58390705-58390705

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.204+2T>C; p.?; 18:58245510-58245510

 ovaryother; neoplasmUnknown

c.2540C>T; p.S847F; 18:58389137-58389137

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.742C>T; p.R248C; 18:58329056-58329056

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1924G>T; p.G642C; 18:58366149-58366149

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1019C>A; p.S340*; 18:58333846-58333846

 thyroidother; neoplasmSubstitution - Nonsense

c.371G>A; p.R124Q; 18:58322447-58322447

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1404_1405insC; p.K469fs*29; 18:58342992-58342993

 prostatecarcinomaInsertion - Frameshift

c.1980C>T; p.Y660Y; 18:58366205-58366205

 pancreascarcinomaSubstitution - coding silent

c.1980C>T; p.Y660Y; 18:58366205-58366205

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1138C>T; p.R380C; 18:58341110-58341110

 oesophaguscarcinomaSubstitution - Missense

c.1138C>T; p.R380C; 18:58341110-58341110

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1138C>T; p.R380C; 18:58341110-58341110

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1138C>T; p.R380C; 18:58341110-58341110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1138C>T; p.R380C; 18:58341110-58341110

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>A; p.A33T; 18:58165836-58165836

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.97G>A; p.A33T; 18:58165836-58165836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.594G>A; p.G198G; 18:58325076-58325076

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1302A>G; p.L434L; 18:58341782-58341782

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.546G>A; p.S182S; 18:58325028-58325028

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.269T>A; p.L90Q; 18:58252026-58252026

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.830C>T; p.S277L; 18:58330754-58330754

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2263T>C; p.F755L; 18:58373240-58373240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431G>C; p.G144A; 18:58323252-58323252

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.651G>A; p.R217R; 18:58325133-58325133

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1026T>C; p.S342S; 18:58333853-58333853

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.58C>T; p.R20C; 18:58165797-58165797

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.439C>T; p.R147*; 18:58323260-58323260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2835G>A; p.V945V; 18:58396236-58396236

 skinmalignant_melanomaSubstitution - coding silent

c.768C>A; p.S256R; 18:58329082-58329082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2061G>A; p.L687L; 18:58367803-58367803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.116G>T; p.G39V; 18:58165855-58165855

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1837C>T; p.R613W; 18:58366062-58366062

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.696G>A; p.E232E; 18:58329010-58329010

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1883_1884delTG; p.W629fs*2; 18:58366108-58366109

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2500G>A; p.G834S; 18:58389097-58389097

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2500G>A; p.G834S; 18:58389097-58389097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1029C>G; p.V343V; 18:58333856-58333856

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.613A>G; p.N205D; 18:58325095-58325095

 livercarcinomaSubstitution - Missense

c.96C>T; p.L32L; 18:58165835-58165835

 prostatecarcinomaSubstitution - coding silent

c.1838G>A; p.R613Q; 18:58366063-58366063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2100C>T; p.A700A; 18:58367842-58367842

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.517G>A; p.G173R; 18:58324999-58324999

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2352_2353delAA; p.R785fs*33; 18:58383305-58383306

 prostatecarcinomaDeletion - Frameshift

c.2499C>T; p.C833C; 18:58389096-58389096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1470C>T; p.N490N; 18:58343058-58343058

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2569C>T; p.H857Y; 18:58389166-58389166

 skinmalignant_melanomaSubstitution - Missense

c.1025G>A; p.S342N; 18:58333852-58333852

 livercarcinomaSubstitution - Missense

c.347C>T; p.P116L; 18:58316031-58316031

 lungcarcinoid-endocrine_tumour; typicalSubstitution - Missense

c.347C>T; p.P116L; 18:58316031-58316031

 prostatecarcinomaSubstitution - Missense

c.2799C>A; p.T933T; 18:58396200-58396200

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2207A>G; p.Y736C; 18:58373184-58373184

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.896G>T; p.G299V; 18:58330820-58330820

 thyroidcarcinomaSubstitution - Missense

c.2207A>G; p.Y736C; 18:58373184-58373184

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1629A>G; p.R543R; 18:58351026-58351026

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1342C>T; p.R448W; 18:58342930-58342930

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.694G>A; p.E232K; 18:58329008-58329008

 skinmalignant_melanomaSubstitution - Missense

c.2464A>C; p.I822L; 18:58387475-58387475

 breastcarcinomaSubstitution - Missense

c.1897G>A; p.E633K; 18:58366122-58366122

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.620G>A; p.G207D; 18:58325102-58325102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1648+10C>T; p.?; 18:58351055-58351055

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.229G>C; p.E77Q; 18:58248923-58248923

 breastcarcinomaSubstitution - Missense

c.312C>T; p.F104F; 18:58315996-58315996

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1154A>G; p.N385S; 18:58341126-58341126

 central_nervous_system; braingliomaSubstitution - Missense

c.1828G>C; p.E610Q; 18:58366053-58366053

 livercarcinomaSubstitution - Missense

c.1962G>T; p.E654D; 18:58366187-58366187

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2613C>T; p.D871D; 18:58390663-58390663

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1165C>T; p.R389*; 18:58341137-58341137

 skinmalignant_melanomaSubstitution - Nonsense

c.1165C>T; p.R389*; 18:58341137-58341137

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.748C>T; p.R250C; 18:58329062-58329062

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.792G>A; p.S264S; 18:58329106-58329106

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1774-1G>A; p.?; 18:58365998-58365998

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1812A>T; p.R604S; 18:58366037-58366037

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.748C>T; p.R250C; 18:58329062-58329062

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1340G>A; p.R447H; 18:58342928-58342928

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.86G>T; p.G29V; 18:58165825-58165825

 livercarcinomaSubstitution - Missense

c.757A>T; p.R253W; 18:58329071-58329071

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.86G>T; p.G29V; 18:58165825-58165825

 livercarcinomaSubstitution - Missense

c.1519G>T; p.D507Y; 18:58349540-58349540

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.701A>G; p.D234G; 18:58329015-58329015

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1921delG; p.G642fs*66; 18:58366146-58366146

 oesophaguscarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.188C>A; p.T63K; 18:58245492-58245492

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.623G>A; p.R208Q; 18:58325105-58325105

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1887G>A; p.W629*; 18:58366112-58366112

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2617G>A; p.E873K; 18:58390667-58390667

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.591C>A; p.P197P; 18:58325073-58325073

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.569T>C; p.L190P; 18:58325051-58325051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.L115F; 18:58316027-58316027

 skinmalignant_melanomaSubstitution - Missense

c.2347A>G; p.N783D; 18:58383300-58383300

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1918T>A; p.Y640N; 18:58366143-58366143

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.539A>G; p.N180S; 18:58325021-58325021

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2452G>A; p.D818N; 18:58387463-58387463

 skinmalignant_melanomaSubstitution - Missense

c.589C>T; p.P197S; 18:58325071-58325071

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.39C>T; p.S13S; 18:58044699-58044699

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1179G>C; p.W393C; 18:58341151-58341151

 ovaryother; neoplasmSubstitution - Missense

c.193A>G; p.T65A; 18:58245497-58245497

 central_nervous_system; braingliomaSubstitution - Missense

c.784G>A; p.E262K; 18:58329098-58329098

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.784G>A; p.E262K; 18:58329098-58329098

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2364C>T; p.I788I; 18:58383317-58383317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.769G>A; p.E257K; 18:58329083-58329083

 adrenal_gland; adrenal_glandadrenal_cortical_adenoma; cortisol_producingSubstitution - Missense

c.2701G>C; p.G901R; 18:58391495-58391495

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2364C>T; p.I788I; 18:58383317-58383317

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.769G>A; p.E257K; 18:58329083-58329083

 ovaryother; neoplasmSubstitution - Missense

c.784G>A; p.E262K; 18:58329098-58329098

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.532G>C; p.D178H; 18:58325014-58325014

 breastcarcinomaSubstitution - Missense

c.285C>T; p.D95D; 18:58252042-58252042

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.835G>A; p.E279K; 18:58330759-58330759

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1033G>A; p.D345N; 18:58333860-58333860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1033G>A; p.D345N; 18:58333860-58333860

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

')