AutismKB 2.0

Annotation Detail for OFD1


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Basic Information Top
Gene Symbol:OFD1 ( 71-7A,CXorf5,JBTS10,MGC117039,MGC117040,SGBS2 )
Gene Full Name: oral-facial-digital syndrome 1
Band: Xp22.2
Quick LinksEntrez ID:8481; OMIM: 300170; Uniprot ID:OFD1_HUMAN; ENSEMBL ID: ENSG00000046651; HGNC ID: 2567
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
669Phosphoserine.
686Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
15Phosphoserine(CK1)HMM predict
63Phosphoserine(CK1)HMM predict
118N-linkedHMM predict
267Phosphothreonine(PKC)HMM predict
531Phosphoserine(CAMK2)HMM predict
534Phosphoserine(CK1)HMM predict
558Phosphotyrosine(Syk)HMM predict
663Phosphoserine(CDC2)HMM predict
681N-linkedHMM predict
684Phosphoserine(CK2)HMM predict
735Phosphoserine(PKG)HMM predict
735Phosphoserine(PKA)HMM predict
736Phosphoserine(PKG)HMM predict
736Phosphoserine(PKA)HMM predict
737O-linkedHMM predict
745Phosphoserine(PKG)HMM predict
762Phosphoserine(CDK)HMM predict
774Phosphoserine(CDK)HMM predict
781O-linkedHMM predict
781Phosphoserine(IKK)HMM predict
781Phosphoserine(CK1)HMM predict
783PhosphoserineHMM predict
783O-linkedHMM predict
789Phosphoserine(CDC2)HMM predict
899Phosphoserine(PKG)HMM predict
961Phosphotyrosine(INSR)HMM predict
961Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003611
  • Location:chrX 13662800-13697390
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 13662105 13663397 1292 50
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 13662232 13663438 1206 0
FOXA1 MCF7GSE15244 13675546 13676155 609 0
Nanog hESGSE18292 13689915 13690471 556 0
Oct1 H2O2-HelaGSE14283 13690271 13690298 27 0
Oct1 HelaGSE14283 13690271 13690299 28 0
P300 T30-glioblastomaGSE21026 13670585 13671376 791 0
Sox2 hESGSE18292 13690133 13690631 498 0
hScc1 CdLSGSE12603 13678235 13678887 652 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