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

Basic Information

Gene ID

57447

Name

NDRG2

Synonymous

NDRG family member 2;NDRG2;NDRG family member 2

Definition

N-myc downstream regulator 2|N-myc downstream-regulated gene 2 protein|NDR1-related protein NDR2|cytoplasmic protein Ndr1|protein NDRG2|syld709613 protein

Position

14q11.2

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 0.16.

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.1109C>T; p.S370F; 14:21017603-21017603

 skinmalignant_melanomaSubstitution - Missense

c.1045C>A; p.L349M; 14:21017667-21017667

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.173C>G; p.P58R; 14:21022442-21022442

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.260A>G; p.D87G; 14:21022146-21022146

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.991G>T; p.A331S; 14:21017721-21017721

 thyroidother; neoplasmSubstitution - Missense

c.22C>T; p.Q8*; 14:21023294-21023294

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.789C>A; p.D263E; 14:21018787-21018787

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.855C>T; p.F285F; 14:21018463-21018463

 skinmalignant_melanomaSubstitution - coding silent

c.993C>T; p.A331A; 14:21017719-21017719

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.279G>T; p.Q93H; 14:21022127-21022127

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.191C>T; p.A64V; 14:21022424-21022424

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.346T>G; p.Y116D; 14:21021878-21021878

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.366C>T; p.D122D; 14:21021858-21021858

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.861+3C>T; p.?; 14:21018454-21018454

 breastcarcinoma; ductal_carcinomaUnknown

c.62C>T; p.P21L; 14:21023254-21023254

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.653G>A; p.R218K; 14:21019702-21019702

 skinmalignant_melanomaSubstitution - Missense

c.1051C>T; p.Q351*; 14:21017661-21017661

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.528G>T; p.K176N; 14:21020523-21020523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.843C>A; p.T281T; 14:21018475-21018475

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.721C>T; p.R241*; 14:21019156-21019156

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.474C>A; p.N158K; 14:21020577-21020577

 skinmalignant_melanomaSubstitution - Missense

c.142G>A; p.G48S; 14:21022473-21022473

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.422T>C; p.I141T; 14:21020830-21020830

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.207C>T; p.H69H; 14:21022408-21022408

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1079C>T; p.S360L; 14:21017633-21017633

 skinmalignant_melanomaSubstitution - Missense

c.1079C>T; p.S360L; 14:21017633-21017633

 skinmalignant_melanomaSubstitution - Missense

c.185G>A; p.R62H; 14:21022430-21022430

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.185G>A; p.R62H; 14:21022430-21022430

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.12G>A; p.L4L; 14:21023304-21023304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.293T>C; p.V98A; 14:21022113-21022113

 skinmalignant_melanomaSubstitution - Missense

c.458C>T; p.A153V; 14:21020794-21020794

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.229T>G; p.S77A; 14:21022177-21022177

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.930C>T; p.F310F; 14:21018006-21018006

 breastcarcinomaSubstitution - coding silent

c.582G>A; p.P194P; 14:21019950-21019950

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1088C>T; p.P363L; 14:21017624-21017624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6G>A; p.A2A; 14:21023310-21023310

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.481G>A; p.D161N; 14:21020570-21020570

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.895C>G; p.Q299E; 14:21018206-21018206

 breastcarcinomaSubstitution - Missense

c.95G>A; p.R32Q; 14:21022886-21022886

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.472A>G; p.N158D; 14:21020579-21020579

 skinmalignant_melanomaSubstitution - Missense

c.766C>T; p.P256S; 14:21018810-21018810

 skinmalignant_melanomaSubstitution - Missense

c.921C>T; p.F307F; 14:21018015-21018015

 skinmalignant_melanomaSubstitution - coding silent

c.1034G>T; p.R345L; 14:21017678-21017678

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.858C>T; p.L286L; 14:21018460-21018460

 skinmalignant_melanomaSubstitution - coding silent

c.390C>T; p.C130C; 14:21021834-21021834

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.192G>A; p.A64A; 14:21022423-21022423

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.204C>T; p.Y68Y; 14:21022411-21022411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.912C>T; p.T304T; 14:21018024-21018024

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.256G>A; p.E86K; 14:21022150-21022150

 skinmalignant_melanomaSubstitution - Missense

c.755C>T; p.T252I; 14:21019122-21019122

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.861G>A; p.K287K; 14:21018457-21018457

 central_nervous_system; braingliomaSubstitution - coding silent

c.493G>A; p.G165S; 14:21020558-21020558

 skinmalignant_melanomaSubstitution - Missense

c.64G>T; p.E22*; 14:21023252-21023252

 livercarcinomaSubstitution - Nonsense

c.64G>T; p.E22*; 14:21023252-21023252

 livercarcinomaSubstitution - Nonsense

c.219C>G; p.L73L; 14:21022396-21022396

 breastcarcinomaSubstitution - coding silent

c.394C>A; p.L132M; 14:21021830-21021830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.469-3C>T; p.?; 14:21020585-21020585

 lungcarcinoma; small_cell_carcinomaUnknown

c.943G>A; p.G315S; 14:21017993-21017993

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.479C>T; p.P160L; 14:21020572-21020572

 skinmalignant_melanomaSubstitution - Missense

c.852G>C; p.S284S; 14:21018466-21018466

 ovaryother; neoplasmSubstitution - coding silent

c.970C>T; p.R324C; 14:21017742-21017742

 breastcarcinomaSubstitution - Missense

c.827C>G; p.S276*; 14:21018491-21018491

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.856C>T; p.L286F; 14:21018462-21018462

 skinmalignant_melanomaSubstitution - Missense

c.766C>G; p.P256A; 14:21018810-21018810

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.267G>A; p.Q89Q; 14:21022139-21022139

 skinmalignant_melanomaSubstitution - coding silent

c.323_324GA>TT; p.G108V; 14:21022082-21022083

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.782T>C; p.V261A; 14:21018794-21018794

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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