AutismKB 2.0

Annotation Detail for EGLN1


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Basic Information Top
Gene Symbol:EGLN1 ( C1orf12,DKFZp761F179,ECYT3,HIFPH2,HPH2,PHD2,SM20,ZMYND6 )
Gene Full Name: egl nine homolog 1 (C. elegans)
Band: 1q42.2
Quick LinksEntrez ID:54583; OMIM: 606425; Uniprot ID:EGLN1_HUMAN; ENSEMBL ID: ENSG00000135766; HGNC ID: 1232
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
12Phosphoserine(CDK)HMM predict
12Phosphoserine(CDC2)HMM predict
75O-linkedHMM predict
75Phosphoserine(IKK)HMM predict
168Phosphothreonine(MAPK)HMM predict
242Phosphoserine(ATM)HMM predict
245Phosphoserine(CK2)HMM predict
247Phosphoserine(CK1)HMM predict
306N-linkedHMM predict
310Phosphotyrosine(EGFR)HMM predict
310Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022051
  • Location:chr1 229568053-229627412
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 229623737 229624325 588 0
CTCF G2GSE9613 229624766 229624957 191 0
Fos K562GSE19551 229578535 229578823 288 0
H3K4me3 colorectalcancer 229621332 229623387 2055 0
H3ac HepG2E 229621332 229621928 596 0
H3ac HepG2E 229622288 229623518 1230 0
NRSF mAbJurkat 229596528 229596711 183 0
Nanog hESGSE18292 229579807 229580246 439 0
PHF8 293TGSE20725 229622984 229625448 2464 0
PHF8 HeLaGSE20725 229623216 229625237 2021 0
RARA MCF7GSE15244 229587315 229588189 874 0
RARA MCF7GSE15244 229609605 229610956 1351 0
RARA MCF7GSE15244 229622081 229623351 1270 0
TAF k562GSE8489 229621870 229623387 1517 0
hScc1 BcellGSE12603 229623317 229625055 1738 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (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