Cancer metastasis database

Annotation category 5

Gene information

Gene ID 54583
Symbol

EGLN1

Synonymous

C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6

Full name

egl-9 family hypoxia-inducible factor 1

Gene description

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

Cytoband

1q42.1

Gene type

protein-coding

Synonymous

MIM:606425; HGNC:HGNC:1232; Ensembl:ENSG00000135766; HPRD:06971; Vega:OTTHUMG00000038027

COSMIC somatic mutation

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