AutismKB 2.0

Annotation Detail for C22orf43


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Basic Information Top
Gene Symbol:C22orf43 ( MGC33025,MGC75009 )
Gene Full Name: chromosome 22 open reading frame 43
Band: 22q11.2
Quick LinksEntrez ID:51233; OMIM: NA; Uniprot ID:CV043_HUMAN; ENSEMBL ID: ENSG00000189269; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016449
  • Location:chr22 22280639-22304486
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 22310254 22310584 330 5933
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 22269735 22270398 663 10573
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22299779 22300028 249 0
CTCF CD4SISSRdata 22299779 22300028 249 0
CTCF G2GSE9613 22299604 22300129 525 0
NRSF JurkatGSE13047 22280584 22281322 738 0
NRSF mAbJurkat 22279299 22283400 4101 0
NRSF-mono JurkatQuESTdata 22280583 22281287 704 0
NRSF-poly JurkatQuESTdata 22280608 22281189 581 0
hScc1 BcellGSE12603 22281561 22281949 388 0
hScc1 BcellGSE12603 22298732 22299189 457 0
hScc1 CdLSGSE12603 22299604 22300129 525 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