Cancer metastasis database

Annotation category 5

Gene information

Gene ID 112398
Symbol

EGLN2

Synonymous

EIT6|HIF-PH1|HIFPH1|HPH-1|HPH-3|PHD1

Full name

egl-9 family hypoxia-inducible factor 2

Gene description

HIF-prolyl hydroxylase 1|egl nine homolog 2|estrogen-induced tag 6|hypoxia-inducible factor prolyl hydroxylase 1|prolyl hydroxylase domain-containing protein 1

Cytoband

19q13.2

Gene type

protein-coding

Synonymous

MIM:606424; HGNC:HGNC:14660; Ensembl:ENSG00000269858; HPRD:06970; Vega:OTTHUMG00000182703

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.366C>A; p.A122A; 19:40800938-40800938

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.697C>T; p.R233C; 19:40801269-40801269

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1130C>A; p.A377D; 19:40807513-40807513

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535C>G; p.L179V; 19:40801107-40801107

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.613C>T; p.R205C; 19:40801185-40801185

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.647G>A; p.G216D; 19:40801219-40801219

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.706C>T; p.R236C; 19:40801278-40801278

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.707G>T; p.R236L; 19:40801279-40801279

 prostatecarcinomaSubstitution - Missense

c.591C>T; p.F197F; 19:40801163-40801163

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.663C>T; p.D221D; 19:40801235-40801235

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.577G>A; p.V193I; 19:40801149-40801149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.517G>T; p.A173S; 19:40801089-40801089

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1208C>A; p.P403Q; 19:40807848-40807848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.128C>T; p.P43L; 19:40800700-40800700

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1169-2A>C; p.?; 19:40807807-40807807

 lungcarcinoma; adenocarcinomaUnknown

c.269C>T; p.P90L; 19:40800841-40800841

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.126T>A; p.C42*; 19:40800698-40800698

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.686C>T; p.A229V; 19:40801258-40801258

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.891C>T; p.H297H; 19:40806602-40806602

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.576C>T; p.C192C; 19:40801148-40801148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1063C>T; p.R355W; 19:40807237-40807237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.854C>T; p.A285V; 19:40806565-40806565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.450_451insAGCTGC; p.S155_S156insCS; 19:40801022-40801023

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaInsertion - In frame

c.142T>C; p.Y48H; 19:40800714-40800714

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.649G>A; p.G217R; 19:40801221-40801221

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.188delC; p.R65fs*86; 19:40800760-40800760

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.20C>A; p.P7Q; 19:40800592-40800592

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.723C>T; p.A241A; 19:40801295-40801295

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.592C>T; p.L198L; 19:40801164-40801164

 skinmalignant_melanomaSubstitution - coding silent

c.877G>A; p.G293R; 19:40806588-40806588

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.895G>T; p.D299Y; 19:40806606-40806606

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1214C>T; p.T405M; 19:40807854-40807854

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.507G>A; p.A169A; 19:40801079-40801079

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.758T>G; p.I253S; 19:40801330-40801330

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.693G>A; p.P231P; 19:40801265-40801265

 breastcarcinomaSubstitution - coding silent

c.173C>T; p.S58L; 19:40800745-40800745

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.883G>T; p.V295L; 19:40806594-40806594

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.843G>A; p.K281K; 19:40801415-40801415

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.229C>T; p.R77W; 19:40800801-40800801

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1006G>A; p.V336M; 19:40807180-40807180

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.908G>T; p.G303V; 19:40806619-40806619

 breastcarcinoma; lobular_carcinomaSubstitution - Missense

c.1199T>C; p.V400A; 19:40807839-40807839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.726G>T; p.W242C; 19:40801298-40801298

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.929G>A; p.C310Y; 19:40806640-40806640

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.653G>A; p.R218H; 19:40801225-40801225

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.625G>A; p.E209K; 19:40801197-40801197

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1129G>A; p.A377T; 19:40807512-40807512

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.333C>T; p.G111G; 19:40800905-40800905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.878G>T; p.G293V; 19:40806589-40806589

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.386C>T; p.P129L; 19:40800958-40800958

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.245G>A; p.G82E; 19:40800817-40800817

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.559C>T; p.R187W; 19:40801131-40801131

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.920G>T; p.C307F; 19:40806631-40806631

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.907G>A; p.G303S; 19:40806618-40806618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 19:40800807-40800807

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1039T>C; p.L347L; 19:40807213-40807213

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent