AutismKB 2.0

Annotation Detail for C9orf169


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Basic Information Top
Gene Symbol:C9orf169 ( MGC59937 )
Gene Full Name: chromosome 9 open reading frame 169
Band: 9q34.3
Quick LinksEntrez ID:375791; OMIM: NA; Uniprot ID:CI169_HUMAN; ENSEMBL ID: ENSG00000197191; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12Phosphotyrosine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_199001
  • Location:chr9 139239464-139240582
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 139237523 139238415 892 1496
PHF8 Hs68plusFBSGSE20725 139237442 139238503 1061 1492
VDR GM10861-UnstimGSE22484 139237331 139238581 1250 1509
VDR GM10861-stimGSE22484 139237225 139238621 1396 1542
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 139241861 139242171 310 1434
CTCF CD4SISSRdata 139241861 139242171 310 1434
CTCF HelaGSE12889 139241718 139242067 349 1310
CTCF JurkatGSE12889 139241774 139242119 345 1364
ER MCF7GSE19013 139240895 139241811 916 771
TFAP2C MCF7GSE21234 139240695 139242197 1502 864
No data
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