AutismKB 2.0

Annotation Detail for CIAO1


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Basic Information Top
Gene Symbol:CIAO1 ( CIA1,WDR39 )
Gene Full Name: cytosolic iron-sulfur protein assembly 1
Band: 2q11.2
Quick LinksEntrez ID:9391; OMIM: 604333; Uniprot ID:CIAO1_HUMAN; ENSEMBL ID: ENSG00000144021; HGNC ID: 14280
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
57Phosphoserine(CK1)HMM predict
63Phosphothreonine(PKC)HMM predict
70Phosphoserine(IKK)HMM predict
80O-linkedHMM predict
140Phosphotyrosine(SRC)HMM predict
140Phosphotyrosine(INSR)HMM predict
140Phosphotyrosine(EGFR)HMM predict
140Phosphotyrosine(Syk)HMM predict
235Phosphoserine(ATM)HMM predict
285Phosphoserine(CK1)HMM predict
293O-linkedHMM predict
303Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004804
  • Location:chr2 96295610-96303618
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 96294800 96296401 1601 10
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 96296831 96297329 498 0
ETS1 JurkatGSE17954 96294953 96296278 1325 0
H3K4me3 colorectalcancer 96296097 96296276 179 0
Myc hESGSE17917 96295453 96295793 340 0
P300 T30-glioblastomaGSE21026 96294980 96296385 1405 0
VDR GM10855-UnstimGSE22484 96294946 96296323 1377 0
VDR GM10855-stimGSE22484 96294983 96296403 1420 0
VDR GM10861-UnstimGSE22484 96294899 96296327 1428 0
VDR GM10861-stimGSE22484 96294935 96296301 1366 0
hScc1 BcellGSE12603 96296626 96296937 311 0
hScc1 CdLSGSE12603 96296626 96296868 242 0
p130 SenescentGSE19898 96295359 96296133 774 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