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

Basic Information

Gene ID

112399

Name

EGLN3

Synonymous

egl-9 family hypoxia-inducible factor 3;EGLN3;egl-9 family hypoxia-inducible factor 3

Definition

HIF prolyl hydroxylase 3|HIF-PH3|HIF-prolyl hydroxylase 3|HPH-1|HPH-3|egl nine homolog 3|egl nine-like protein 3 isoform|hypoxia-inducible factor prolyl hydroxylase 3|prolyl hydroxylase domain-containing protein 3

Position

14q13.1

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 0.00.

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.102C>T; p.F34F; 14:33950651-33950651

 skinmalignant_melanomaSubstitution - coding silent

c.443G>A; p.C148Y; 14:33931130-33931130

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.159C>T; p.T53T; 14:33950594-33950594

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.510G>A; p.E170E; 14:33929180-33929180

 skinmalignant_melanomaSubstitution - coding silent

c.607G>A; p.A203T; 14:33929083-33929083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144H; 14:33931142-33931142

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.401G>C; p.R134P; 14:33931172-33931172

 oesophaguscarcinomaSubstitution - Missense

c.568T>A; p.S190T; 14:33929122-33929122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.469G>T; p.D157Y; 14:33931104-33931104

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.606C>T; p.Y202Y; 14:33929084-33929084

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.497G>A; p.R166Q; 14:33929193-33929193

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.615-1G>T; p.?; 14:33927034-33927034

 lungcarcinoma; adenocarcinomaUnknown

c.380G>A; p.G127E; 14:33931193-33931193

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.48G>T; p.L16L; 14:33950705-33950705

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.589G>A; p.E197K; 14:33929101-33929101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.638T>G; p.F213C; 14:33927010-33927010

 kidneyother; neoplasmSubstitution - Missense

c.119G>A; p.G40D; 14:33950634-33950634

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.574C>T; p.R192C; 14:33929116-33929116

 skinmalignant_melanomaSubstitution - Missense

c.574C>T; p.R192C; 14:33929116-33929116

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.478C>T; p.L160L; 14:33929212-33929212

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.130C>A; p.L44M; 14:33950623-33950623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.402C>G; p.R134R; 14:33931171-33931171

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.341T>C; p.V114A; 14:33950412-33950412

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.264C>T; p.C88C; 14:33950489-33950489

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.303G>T; p.L101L; 14:33950450-33950450

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.165C>T; p.A55A; 14:33950588-33950588

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.258_259GG>TT; p.E86_G87>DC; 14:33950494-33950495

 lungcarcinoma; adenocarcinomaComplex - compound substitution

c.669G>T; p.K223N; 14:33926979-33926979

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.367G>T; p.A123S; 14:33931206-33931206

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.45C>T; p.A15A; 14:33950708-33950708

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.92T>C; p.L31P; 14:33950661-33950661

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.481C>T; p.H161Y; 14:33929209-33929209

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.594G>A; p.V198V; 14:33929096-33929096

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.302T>C; p.L101P; 14:33950451-33950451

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.172G>A; p.D58N; 14:33950581-33950581

 skinmalignant_melanomaSubstitution - Missense

c.357+4G>A; p.?; 14:33950392-33950392

 kidneyother; neoplasmUnknown

c.565T>A; p.W189R; 14:33929125-33929125

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.173A>T; p.D58V; 14:33950580-33950580

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.588C>G; p.H196Q; 14:33929102-33929102

 livercarcinomaSubstitution - Missense

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