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

Basic Information

Gene ID

123879

Name

DCUN1D3

Synonymous

DCN1, defective in cullin neddylation 1, domain containing 3;DCUN1D3;DCN1, defective in cullin neddylation 1, domain containing 3

Definition

DCN1-like protein 3|DCUN1 domain-containing protein 3|defective in cullin neddylation protein 1-like protein 3|squamous cell carcinoma-related oncogene 3

Position

16p12.3

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

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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

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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

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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

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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.110G>A; p.R37H; 16:20862429-20862429

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.494G>A; p.R165Q; 16:20860307-20860307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.838C>T; p.R280*; 16:20859963-20859963

 oesophaguscarcinomaSubstitution - Nonsense

c.250G>A; p.E84K; 16:20862289-20862289

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.431+2T>G; p.?; 16:20862106-20862106

 stomachcarcinoma; adenocarcinomaUnknown

c.621C>T; p.A207A; 16:20860180-20860180

 skinmalignant_melanomaSubstitution - coding silent

c.237C>T; p.S79S; 16:20862302-20862302

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.237C>T; p.S79S; 16:20862302-20862302

 breastcarcinomaSubstitution - coding silent

c.853G>A; p.G285R; 16:20859948-20859948

 livercarcinomaSubstitution - Missense

c.547T>C; p.Y183H; 16:20860254-20860254

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.39G>A; p.S13S; 16:20862500-20862500

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.216G>T; p.S72S; 16:20862323-20862323

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.563A>G; p.Q188R; 16:20860238-20860238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.563A>G; p.Q188R; 16:20860238-20860238

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.337C>T; p.R113C; 16:20862202-20862202

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.R126*; 16:20862163-20862163

 breastcarcinomaSubstitution - Nonsense

c.376C>T; p.R126*; 16:20862163-20862163

 skinmalignant_melanomaSubstitution - Nonsense

c.493C>T; p.R165W; 16:20860308-20860308

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.912T>C; p.T304T; 16:20859889-20859889

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.564G>T; p.Q188H; 16:20860237-20860237

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.128_129CC>TT; p.P43>?; 16:20862410-20862411

 NSmalignant_melanomaComplex

c.348T>C; p.N116N; 16:20862191-20862191

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.348T>C; p.N116N; 16:20862191-20862191

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.348T>C; p.N116N; 16:20862191-20862191

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.716C>T; p.S239F; 16:20860085-20860085

 skinmalignant_melanomaSubstitution - Missense

c.157G>A; p.V53I; 16:20862382-20862382

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.157G>A; p.V53I; 16:20862382-20862382

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.615C>A; p.A205A; 16:20860186-20860186

 breastcarcinomaSubstitution - coding silent

c.85C>T; p.H29Y; 16:20862454-20862454

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.562C>A; p.Q188K; 16:20860239-20860239

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.915G>A; p.*305*; 16:20859886-20859886

 livercarcinomaSubstitution - coding silent

c.94A>C; p.R32R; 16:20862445-20862445

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.94A>C; p.R32R; 16:20862445-20862445

 thyroidother; neoplasmSubstitution - coding silent

c.730A>C; p.N244H; 16:20860071-20860071

 thyroidother; neoplasmSubstitution - Missense

c.900C>T; p.P300P; 16:20859901-20859901

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.382C>A; p.L128M; 16:20862157-20862157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.537C>G; p.F179L; 16:20860264-20860264

 NSNSSubstitution - Missense

c.605G>T; p.R202L; 16:20860196-20860196

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.340T>G; p.F114V; 16:20862199-20862199

 skinmalignant_melanomaSubstitution - Missense

c.176C>T; p.A59V; 16:20862363-20862363

 skinmalignant_melanomaSubstitution - Missense

c.902A>C; p.E301A; 16:20859899-20859899

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.241T>A; p.S81T; 16:20862298-20862298

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.144T>G; p.G48G; 16:20862395-20862395

 breastcarcinomaSubstitution - coding silent

c.613G>A; p.A205T; 16:20860188-20860188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.222T>G; p.D74E; 16:20862317-20862317

 skinmalignant_melanomaSubstitution - Missense

c.739C>T; p.L247F; 16:20860062-20860062

 skinmalignant_melanomaSubstitution - Missense

c.231G>A; p.R77R; 16:20862308-20862308

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.679T>G; p.F227V; 16:20860122-20860122

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.575A>G; p.D192G; 16:20860226-20860226

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.259T>G; p.S87A; 16:20862280-20862280

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.598C>A; p.L200M; 16:20860203-20860203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298G>C; p.D100H; 16:20862241-20862241

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.873C>T; p.L291L; 16:20859928-20859928

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.162C>T; p.N54N; 16:20862377-20862377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.462A>G; p.I154M; 16:20860339-20860339

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.66T>C; p.R22R; 16:20862473-20862473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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