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

Basic Information

Gene ID

54583

Name

EGLN1

Synonymous

egl-9 family hypoxia-inducible factor 1;EGLN1;egl-9 family hypoxia-inducible factor 1

Definition

HIF prolyl hydroxylase 2|HIF-prolyl hydroxylase 2|egl nine homolog 1|egl nine-like protein 1|hypoxia-inducible factor prolyl hydroxylase 2|prolyl hydroxylase domain-containing protein 2|zinc finger MYND domain-containing protein 6

Position

1q42.1

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 0.04.

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.1210C>T; p.L404L; 1:231367575-231367575

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1210C>T; p.L404L; 1:231367575-231367575

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.183C>T; p.S61S; 1:231421706-231421706

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.606G>A; p.M202I; 1:231421283-231421283

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.380G>C; p.C127S; 1:231421509-231421509

 thyroidother; neoplasmSubstitution - Missense

c.622T>C; p.C208R; 1:231421267-231421267

 prostatecarcinomaSubstitution - Missense

c.1120C>T; p.H374Y; 1:231370590-231370590

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1263C>T; p.V421V; 1:231366429-231366429

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.120C>T; p.F40F; 1:231421769-231421769

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.120C>T; p.F40F; 1:231421769-231421769

 breastcarcinomaSubstitution - coding silent

c.1150T>C; p.Y384H; 1:231367635-231367635

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.623G>A; p.C208Y; 1:231421266-231421266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.840_841insA; p.R281fs*4; 1:231421048-231421049

 prostateadenomaInsertion - Frameshift

c.609C>T; p.N203N; 1:231421280-231421280

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.609C>T; p.N203N; 1:231421280-231421280

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.609C>T; p.N203N; 1:231421280-231421280

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.799G>A; p.E267K; 1:231421090-231421090

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.827T>C; p.M276T; 1:231421062-231421062

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.521G>A; p.S174N; 1:231421368-231421368

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.709G>A; p.D237N; 1:231421180-231421180

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.872A>G; p.K291R; 1:231421017-231421017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.585C>G; p.L195L; 1:231421304-231421304

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.105C>T; p.R35R; 1:231421784-231421784

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1187G>C; p.R396T; 1:231367598-231367598

 breastcarcinomaSubstitution - Missense

c.96C>T; p.R32R; 1:231421793-231421793

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1235T>G; p.V412G; 1:231366457-231366457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.96C>A; p.R32R; 1:231421793-231421793

 skinmalignant_melanomaSubstitution - coding silent

c.635A>T; p.D212V; 1:231421254-231421254

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.924G>T; p.T308T; 1:231374067-231374067

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.496A>C; p.S166R; 1:231421393-231421393

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1281G>A; p.*427*; 1:231366411-231366411

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.746A>T; p.K249M; 1:231421143-231421143

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.772T>C; p.W258R; 1:231421117-231421117

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>T; p.F366F; 1:231370612-231370612

 skinmalignant_melanomaSubstitution - coding silent

c.1183G>T; p.E395*; 1:231367602-231367602

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1031G>A; p.R344Q; 1:231370679-231370679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1031G>A; p.R344Q; 1:231370679-231370679

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1031G>A; p.R344Q; 1:231370679-231370679

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217-11_1217-10delTT; p.?; 1:231366485-231366486

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.1124A>T; p.E375V; 1:231370586-231370586

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.648G>T; p.K216N; 1:231421241-231421241

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.682G>A; p.A228T; 1:231421207-231421207

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.682G>A; p.A228T; 1:231421207-231421207

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.878A>G; p.N293S; 1:231421011-231421011

 pancreascarcinomaSubstitution - Missense

c.1208A>G; p.Y403C; 1:231367577-231367577

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1033A>T; p.I345F; 1:231370677-231370677

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.619A>G; p.I207V; 1:231421270-231421270

 livercarcinomaSubstitution - Missense

c.619A>G; p.I207V; 1:231421270-231421270

 livercarcinomaSubstitution - Missense

c.619A>G; p.I207V; 1:231421270-231421270

 livercarcinomaSubstitution - Missense

c.1090C>T; p.L364L; 1:231370620-231370620

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.912G>A; p.P304P; 1:231374079-231374079

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1175A>G; p.D392G; 1:231367610-231367610

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.949C>T; p.P317S; 1:231374042-231374042

 skinmalignant_melanomaSubstitution - Missense

c.359C>T; p.P120L; 1:231421530-231421530

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.405C>T; p.G135G; 1:231421484-231421484

 pancreascarcinomaSubstitution - coding silent

c.812T>A; p.L271Q; 1:231421077-231421077

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.510G>T; p.G170G; 1:231421379-231421379

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.880G>A; p.G294S; 1:231421009-231421009

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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