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

Basic Information

Gene ID

79961

Name

DENND2D

Synonymous

DENN/MADD domain containing 2D;DENND2D;DENN/MADD domain containing 2D

Definition

DENN domain-containing protein 2D|RP5-1180E21.2

Position

1p13.3

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

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

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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 0.09.

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.508C>G; p.L170V; 1:111196053-111196053

 central_nervous_system; braingliomaSubstitution - Missense

c.286C>T; p.L96L; 1:111198700-111198700

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.495G>A; p.L165L; 1:111197185-111197185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.280_282delGAG; p.E94delE; 1:111198704-111198706

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.896T>C; p.V299A; 1:111192216-111192216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.280_282delGAG; p.E94delE; 1:111198704-111198706

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1066G>C; p.D356H; 1:111188735-111188735

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.676C>T; p.H226Y; 1:111194696-111194696

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.917T>C; p.M306T; 1:111192195-111192195

 large_intestine; coloncarcinomaSubstitution - Missense

c.917T>C; p.M306T; 1:111192195-111192195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.917T>C; p.M306T; 1:111192195-111192195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.713G>A; p.C238Y; 1:111194659-111194659

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.59T>A; p.L20H; 1:111200401-111200401

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.713G>A; p.C238Y; 1:111194659-111194659

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1087A>G; p.N363D; 1:111188714-111188714

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.177G>A; p.V59V; 1:111199689-111199689

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.273G>A; p.E91E; 1:111198713-111198713

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.271G>C; p.E91Q; 1:111198715-111198715

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1027A>G; p.K343E; 1:111188774-111188774

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.226_229delACCT; p.Y77fs*49; 1:111199637-111199640

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaDeletion - Frameshift

c.373G>A; p.V125I; 1:111197973-111197973

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1379A>G; p.K460R; 1:111187642-111187642

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.972+2T>C; p.?; 1:111192138-111192138

 stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.893C>T; p.T298I; 1:111192219-111192219

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.369C>T; p.S123S; 1:111197977-111197977

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.300C>T; p.I100I; 1:111198686-111198686

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1079A>G; p.Q360R; 1:111188722-111188722

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.874C>A; p.P292T; 1:111192238-111192238

 thyroidother; neoplasmSubstitution - Missense

c.1407T>G; p.T469T; 1:111187614-111187614

 ovaryother; neoplasmSubstitution - coding silent

c.202G>A; p.E68K; 1:111199664-111199664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.754G>A; p.V252M; 1:111194618-111194618

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.245G>C; p.R82P; 1:111198741-111198741

 thyroidcarcinomaSubstitution - Missense

c.781G>A; p.A261T; 1:111194591-111194591

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.795-1G>A; p.?; 1:111192318-111192318

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.218C>A; p.P73H; 1:111199648-111199648

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.818C>A; p.A273D; 1:111192294-111192294

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1155G>T; p.K385N; 1:111188315-111188315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1309G>A; p.E437K; 1:111188161-111188161

 skinmalignant_melanomaSubstitution - Missense

c.1187G>A; p.R396Q; 1:111188283-111188283

 breastcarcinomaSubstitution - Missense

c.473G>T; p.S158I; 1:111197207-111197207

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.176T>C; p.V59A; 1:111199690-111199690

 breastcarcinomaSubstitution - Missense

c.1251C>A; p.T417T; 1:111188219-111188219

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1251C>A; p.T417T; 1:111188219-111188219

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1389G>T; p.K463N; 1:111187632-111187632

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.246G>A; p.R82R; 1:111198740-111198740

 skinmalignant_melanomaSubstitution - coding silent

c.1186C>T; p.R396W; 1:111188284-111188284

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.825C>T; p.A275A; 1:111192287-111192287

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1119G>A; p.E373E; 1:111188351-111188351

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1114A>C; p.N372H; 1:111188356-111188356

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.753C>T; p.A251A; 1:111194619-111194619

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.643G>A; p.E215K; 1:111195918-111195918

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.826G>A; p.A276T; 1:111192286-111192286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.643G>A; p.E215K; 1:111195918-111195918

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446G>A; p.R149H; 1:111197234-111197234

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446G>A; p.R149H; 1:111197234-111197234

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.807G>A; p.Q269Q; 1:111192305-111192305

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.290T>C; p.L97P; 1:111198696-111198696

 livercarcinomaSubstitution - Missense

c.559T>C; p.F187L; 1:111196002-111196002

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.736C>G; p.Q246E; 1:111194636-111194636

 breastcarcinomaSubstitution - Missense

c.743T>C; p.F248S; 1:111194629-111194629

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.232C>A; p.Q78K; 1:111199634-111199634

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.259C>T; p.R87W; 1:111198727-111198727

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.687T>C; p.H229H; 1:111194685-111194685

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1117G>A; p.E373K; 1:111188353-111188353

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.36C>A; p.L12L; 1:111200424-111200424

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1083G>A; p.G361G; 1:111188718-111188718

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.30C>T; p.F10F; 1:111200430-111200430

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.653C>T; p.S218L; 1:111194719-111194719

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1115A>G; p.N372S; 1:111188355-111188355

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.P151L; 1:111197228-111197228

 breastcarcinomaSubstitution - Missense

c.322G>A; p.G108R; 1:111198664-111198664

 skinmalignant_melanomaSubstitution - Missense

c.1227C>G; p.F409L; 1:111188243-111188243

 parathyroidcarcinomaSubstitution - Missense

c.1060A>T; p.I354F; 1:111188741-111188741

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1167T>A; p.H389Q; 1:111188303-111188303

 livercarcinomaSubstitution - Missense

c.1167T>A; p.H389Q; 1:111188303-111188303

 livercarcinomaSubstitution - Missense

c.747C>T; p.A249A; 1:111194625-111194625

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.244C>T; p.R82W; 1:111198742-111198742

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.663G>A; p.R221R; 1:111194709-111194709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.426+3C>T; p.?; 1:111197917-111197917

 breastcarcinomaUnknown

c.1253A>C; p.N418T; 1:111188217-111188217

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.201A>G; p.S67S; 1:111199665-111199665

 breastcarcinomaSubstitution - coding silent

c.638G>A; p.G213D; 1:111195923-111195923

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.232C>T; p.Q78*; 1:111199634-111199634

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.482G>A; p.G161D; 1:111197198-111197198

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.208G>A; p.D70N; 1:111199658-111199658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.819T>G; p.A273A; 1:111192293-111192293

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1259G>A; p.R420Q; 1:111188211-111188211

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1259G>A; p.R420Q; 1:111188211-111188211

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.818_819CT>AG; p.A273E; 1:111192293-111192294

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.77A>T; p.Q26L; 1:111199789-111199789

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.267G>T; p.Q89H; 1:111198719-111198719

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1152C>T; p.V384V; 1:111188318-111188318

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.312C>T; p.C104C; 1:111198674-111198674

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.346G>A; p.E116K; 1:111198640-111198640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.915C>T; p.F305F; 1:111192197-111192197

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.645+2T>C; p.?; 1:111195914-111195914

 stomachcarcinoma; adenocarcinomaUnknown

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