AutismKB 2.0

Annotation Detail for C9orf50


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Basic Information Top
Gene Symbol:C9orf50 ( FLJ35803 )
Gene Full Name: chromosome 9 open reading frame 50
Band: 9q34.11
Quick LinksEntrez ID:375759; OMIM: NA; Uniprot ID:CI050_HUMAN; ENSEMBL ID: ENSG00000179058; HGNC ID: 23677
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_199350
  • Location:chr9 131414326-131422875
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 131412674 131412885 211 1547
CTCF CD4SISSRdata 131412674 131412885 211 1547
NRSF mAbJurkat 131403971 131404233 262 10225
Rb GrowingGSE19898 131399512 131399718 206 14712
TFAP2C MCF7GSE21234 131397469 131397918 449 16633
TFAP2C MCF7GSE21234 131410725 131411668 943 3130
TFAP2C MCF7GSE21234 131411683 131412468 785 2251
hScc1 BcellGSE12603 131410691 131411259 568 3352
hScc1 BcellGSE12603 131412481 131413479 998 1347
hScc1 CdLSGSE12603 131412253 131413508 1255 1446
hScc1 G2GSE9613 131411532 131413803 2271 1659
p130 SenescentGSE19898 131399111 131399386 275 15078
p130 shRbQuiescentGSE19898 131398744 131399396 652 15257
p130 shRbQuiescentGSE19898 131399869 131400351 482 14217
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 131419513 131419661 148 0
TFAP2C MCF7GSE21234 131415438 131416045 607 0
hScc1 BcellGSE12603 131415721 131416064 343 0
hScc1 BcellGSE12603 131422342 131422694 352 0
hScc1 G2GSE9613 131419223 131419752 529 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