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

Basic Information

Gene ID

65009

Name

NDRG4

Synonymous

NDRG family member 4;NDRG4;NDRG family member 4

Definition

N-myc downstream-regulated gene 4 protein|brain development-related molecule 1|protein NDRG4|smooth muscle-associated protein 8|vascular smooth muscle cell-associated protein 8

Position

16q21

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 0.06.

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.435G>A; p.V145V; 16:58504616-58504616

 skinmalignant_melanomaSubstitution - coding silent

c.919C>G; p.L307V; 16:58509310-58509310

 breastcarcinomaSubstitution - Missense

c.351G>A; p.Q117Q; 16:58504365-58504365

 pancreascarcinomaSubstitution - coding silent

c.355C>T; p.P119S; 16:58504369-58504369

 skinmalignant_melanomaSubstitution - Missense

c.370C>G; p.L124V; 16:58504384-58504384

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.340C>T; p.Q114*; 16:58504270-58504270

 skinmalignant_melanomaSubstitution - Nonsense

c.583G>A; p.D195N; 16:58506585-58506585

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.429C>T; p.I143I; 16:58504610-58504610

 breastcarcinomaSubstitution - coding silent

c.168C>T; p.G56G; 16:58503848-58503848

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1102G>A; p.E368K; 16:58511562-58511562

 skinmalignant_melanomaSubstitution - Missense

c.837C>T; p.N279N; 16:58508973-58508973

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.332A>T; p.Q111L; 16:58504262-58504262

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.326C>T; p.A109V; 16:58504256-58504256

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.326C>T; p.A109V; 16:58504256-58504256

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.326C>T; p.A109V; 16:58504256-58504256

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.384delC; p.S130fs*11; 16:58504398-58504398

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.407G>A; p.G136E; 16:58504421-58504421

 skinmalignant_melanomaSubstitution - Missense

c.742_743CC>TT; p.P248F; 16:58507833-58507834

 skinmalignant_melanomaSubstitution - Missense

c.821G>T; p.G274V; 16:58507995-58507995

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.387C>G; p.P129P; 16:58504401-58504401

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.233G>T; p.C78F; 16:58504163-58504163

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.223+1G>A; p.?; 16:58503904-58503904

 stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.223+1G>A; p.?; 16:58503904-58503904

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.749C>T; p.T250M; 16:58507840-58507840

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.749C>T; p.T250M; 16:58507840-58507840

 skinmalignant_melanomaSubstitution - Missense

c.321delG; p.A109fs*32; 16:58504251-58504251

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.957C>A; p.G319G; 16:58509348-58509348

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1041C>T; p.R347R; 16:58511501-58511501

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.718C>T; p.R240C; 16:58507809-58507809

 skin; armmalignant_melanomaSubstitution - Missense

c.784A>G; p.M262V; 16:58507958-58507958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.909G>A; p.Q303Q; 16:58509189-58509189

 skinmalignant_melanomaSubstitution - coding silent

c.276C>T; p.T92T; 16:58504206-58504206

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.287T>C; p.V96A; 16:58504217-58504217

 lungcarcinoma; mixed_small_cell_carcinoma-adenocarcinomaSubstitution - Missense

c.910C>T; p.P304S; 16:58509301-58509301

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.163C>A; p.R55R; 16:58503843-58503843

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.184C>T; p.R62C; 16:58503864-58503864

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.184C>T; p.R62C; 16:58503864-58503864

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.796G>A; p.G266R; 16:58507970-58507970

 skinmalignant_melanomaSubstitution - Missense

c.840C>T; p.S280S; 16:58508976-58508976

 skinmalignant_melanomaSubstitution - coding silent

c.495G>A; p.G165G; 16:58506413-58506413

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.959A>G; p.Y320C; 16:58509350-58509350

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1029G>T; p.V343V; 16:58511489-58511489

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.200C>A; p.T67N; 16:58503880-58503880

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.159G>A; p.V53V; 16:58503839-58503839

 breastcarcinomaSubstitution - coding silent

c.528A>C; p.K176N; 16:58506446-58506446

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.170C>G; p.S57C; 16:58503850-58503850

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.163C>T; p.R55W; 16:58503843-58503843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.224-1G>C; p.?; 16:58504153-58504153

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.688C>A; p.L230M; 16:58506987-58506987

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.255C>T; p.F85F; 16:58504185-58504185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.442G>A; p.G148R; 16:58504623-58504623

 livercarcinomaSubstitution - Missense

c.442G>A; p.G148R; 16:58504623-58504623

 livercarcinomaSubstitution - Missense

c.466G>T; p.A156S; 16:58504647-58504647

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.713A>G; p.N238S; 16:58507012-58507012

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.382C>T; p.L128F; 16:58504396-58504396

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.390C>T; p.S130S; 16:58504404-58504404

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.49_50insG; p.Q19fs*24; 16:58487827-58487828

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1026G>A; p.S342S; 16:58511486-58511486

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

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