AutismKB 2.0

Annotation Detail for EGLN2


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Basic Information Top
Gene Symbol:EGLN2 ( DKFZp434E026,EIT6,HIFPH1,HPH-3,PHD1 )
Gene Full Name: egl nine homolog 2 (C. elegans)
Band: 19q13.2
Quick LinksEntrez ID:112398; OMIM: 606424; Uniprot ID:EGLN2_HUMAN; ENSEMBL ID: ENSG00000171570; HGNC ID: 14660
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
11Phosphoserine(IKK)HMM predict
20Phosphoserine(CDC2)HMM predict
21O-linkedHMM predict
58O-linkedHMM predict
61O-linkedHMM predict
63Phosphothreonine(MAPK)HMM predict
63O-linkedHMM predict
67O-linkedHMM predict
69O-linkedHMM predict
70O-linkedHMM predict
71O-linkedHMM predict
72O-linkedHMM predict
74Phosphoserine(CDC2)HMM predict
120MethyllysineHMM predict
130Phosphoserine(CDC2)HMM predict
130Phosphoserine(CDK)HMM predict
158Phosphoserine(CK2)HMM predict
226Phosphoserine(ATM)HMM predict
401Phosphoserine(ATM)HMM predict
401O-linkedHMM predict
401Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_053046
  • Location:chr19 45998020-46006175
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 46000275 46000916 641 0
USF1 HepG2E 45999644 45999872 228 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018