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

Basic Information

Gene ID

10397

Name

NDRG1

Synonymous

N-myc downstream regulated 1;NDRG1;N-myc downstream regulated 1

Definition

N-myc downstream-regulated gene 1 protein|differentiation-related gene 1 protein|nickel-specific induction protein Cap43|protein NDRG1|protein regulated by oxygen-1|reducing agents and tunicamycin-responsive protein

Position

8q24.3

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

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.657G>T; p.M219I; 8:133250481-133250481

 oesophaguscarcinomaSubstitution - Missense

c.196G>A; p.G66S; 8:133264556-133264556

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.118T>G; p.L40V; 8:133264634-133264634

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.925G>A; p.V309M; 8:133242041-133242041

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.288C>T; p.A96A; 8:133262085-133262085

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1157G>C; p.G386A; 8:133238906-133238906

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.700C>T; p.R234W; 8:133248770-133248770

 skinmalignant_melanomaSubstitution - Missense

c.187C>A; p.H63N; 8:133264565-133264565

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.322G>A; p.A108T; 8:133262051-133262051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.322G>A; p.A108T; 8:133262051-133262051

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.322G>A; p.A108T; 8:133262051-133262051

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.470T>C; p.V157A; 8:133256844-133256844

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1007C>G; p.S336C; 8:133239056-133239056

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.194T>G; p.I65S; 8:133264558-133264558

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.927G>A; p.V309V; 8:133242039-133242039

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.563C>T; p.P188L; 8:133254570-133254570

 breastcarcinomaSubstitution - Missense

c.1110C>T; p.A370A; 8:133238953-133238953

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.318C>T; p.F106F; 8:133262055-133262055

 skinmalignant_melanomaSubstitution - coding silent

c.33T>A; p.A11A; 8:133284279-133284279

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.974G>A; p.R325Q; 8:133239089-133239089

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.718G>T; p.E240*; 8:133248752-133248752

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.341C>A; p.S114Y; 8:133259216-133259216

 breastcarcinomaSubstitution - Missense

c.734G>C; p.G245A; 8:133248736-133248736

 breastcarcinomaSubstitution - Missense

c.924C>T; p.F308F; 8:133242042-133242042

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.686A>G; p.N229S; 8:133250452-133250452

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.492C>T; p.N164N; 8:133256822-133256822

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.64-6T>C; p.?; 8:133280273-133280273

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.64-6T>C; p.?; 8:133280273-133280273

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.882G>A; p.Q294Q; 8:133244364-133244364

 breastcarcinomaSubstitution - coding silent

c.321C>T; p.P107P; 8:133262052-133262052

 skinmalignant_melanomaSubstitution - coding silent

c.755+10T>C; p.?; 8:133248705-133248705

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.805G>A; p.V269M; 8:133247877-133247877

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.616G>A; p.E206K; 8:133250522-133250522

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1100G>A; p.S367N; 8:133238963-133238963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294C>A; p.G98G; 8:133262079-133262079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.289C>A; p.P97T; 8:133262084-133262084

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.843C>T; p.T281T; 8:133246628-133246628

 skinmalignant_melanomaSubstitution - coding silent

c.368C>A; p.P123H; 8:133259189-133259189

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.269C>T; p.A90V; 8:133262104-133262104

 NSmalignant_melanomaSubstitution - Missense

c.677T>C; p.L226P; 8:133250461-133250461

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731C>T; p.P244L; 8:133248739-133248739

 skinmalignant_melanomaSubstitution - Missense

c.861G>A; p.A287A; 8:133244385-133244385

 skinmalignant_melanomaSubstitution - coding silent

c.861G>A; p.A287A; 8:133244385-133244385

 skinmalignant_melanomaSubstitution - coding silent

c.996C>T; p.S332S; 8:133239067-133239067

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.849C>T; p.L283L; 8:133246622-133246622

 skinmalignant_melanomaSubstitution - coding silent

c.17A>G; p.Q6R; 8:133284295-133284295

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.17A>G; p.Q6R; 8:133284295-133284295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.82C>T; p.Q28*; 8:133280249-133280249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.478C>A; p.L160I; 8:133256836-133256836

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.578C>G; p.S193C; 8:133254555-133254555

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1126C>T; p.P376S; 8:133238937-133238937

 skinmalignant_melanomaSubstitution - Missense

c.57_58delAG; p.E21fs*10; 8:133284254-133284255

 skinmalignant_melanomaDeletion - Frameshift

c.72C>T; p.T24T; 8:133280259-133280259

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.114G>T; p.E38D; 8:133264638-133264638

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.112G>A; p.E38K; 8:133264640-133264640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.49G>T; p.V17L; 8:133284263-133284263

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1155C>G; p.A385A; 8:133238908-133238908

 breastcarcinomaSubstitution - coding silent

c.616G>C; p.E206Q; 8:133250522-133250522

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.818A>G; p.N273S; 8:133246653-133246653

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.46T>C; p.L16L; 8:133284266-133284266

 skinmalignant_melanomaSubstitution - coding silent

c.808-9C>T; p.?; 8:133246672-133246672

 livercarcinomaUnknown

c.808-9C>T; p.?; 8:133246672-133246672

 livercarcinomaUnknown

c.672G>A; p.L224L; 8:133250466-133250466

 livercarcinomaSubstitution - coding silent

c.1086C>A; p.S362R; 8:133238977-133238977

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.100G>A; p.E34K; 8:133264652-133264652

 skinmalignant_melanomaSubstitution - Missense

c.303C>A; p.D101E; 8:133262070-133262070

 prostatecarcinomaSubstitution - Missense

c.484C>G; p.L162V; 8:133256830-133256830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1055G>T; p.S352I; 8:133239008-133239008

 thyroidother; neoplasmSubstitution - Missense

c.506C>T; p.A169V; 8:133256808-133256808

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.871G>A; p.G291S; 8:133244375-133244375

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.168G>A; p.R56R; 8:133264584-133264584

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.73G>A; p.G25S; 8:133280258-133280258

 skinmalignant_melanomaSubstitution - Missense

c.211A>G; p.T71A; 8:133262162-133262162

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.732G>A; p.P244P; 8:133248738-133248738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.836_837insA; p.T281fs*23; 8:133246634-133246635

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.66C>A; p.T22T; 8:133280265-133280265

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.424G>A; p.G142S; 8:133258392-133258392

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.195C>A; p.I65I; 8:133264557-133264557

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1052G>A; p.R351Q; 8:133239011-133239011

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.815G>A; p.C272Y; 8:133246656-133246656

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.815G>A; p.C272Y; 8:133246656-133246656

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1156G>A; p.G386R; 8:133238907-133238907

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.636C>T; p.R212R; 8:133250502-133250502

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

')