AutismKB 2.0

Annotation Detail for C9orf46


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Basic Information Top
Gene Symbol:C9orf46 ( FLJ14688,FLJ39176,MDS030 )
Gene Full Name: chromosome 9 open reading frame 46
Band: 9p24.1
Quick LinksEntrez ID:55848; OMIM: NA; Uniprot ID:CI046_HUMAN; ENSEMBL ID: ENSG00000107020; 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_018465
  • Location:chr9 5347972-5427859
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
E2F4 G0GSE7516 5427685 5428424 739 195
LIN9 G0GSE7516 5427535 5428679 1144 248
NFkBII GM12878GSE19485 5426665 5429604 2939 275
PHF8 HeLaGSE20725 5427406 5428638 1232 163
PHF8 Hs68plusFBSGSE20725 5427177 5428785 1608 122
hScc1 BcellGSE12603 5432437 5432652 215 4685
hScc1 CdLSGSE12603 5432134 5432652 518 4534
p130 QuiescentGSE19898 5427585 5428144 559 5
p130 SenescentGSE19898 5427533 5428464 931 139
p130 shRbSenescentGSE19898 5427564 5428194 630 20
p130 G0GSE7516 5427459 5428643 1184 192
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 5414998 5415308 310 0
CTCF CD4SISSRdata 5414998 5415308 310 0
ETS1 JurkatGSE17954 5427246 5428406 1160 0
NRSF JurkatGSE13047 5387451 5388118 667 0
NRSF mAbJurkat 5386639 5388778 2139 0
NRSF-mono JurkatQuESTdata 5387450 5387858 408 0
NRSF-poly JurkatQuESTdata 5387575 5387962 387 0
Nanog ESGSE20650 5406959 5407435 476 0
Nanog hESGSE18292 5406952 5407291 339 0
Nanog hESGSE18292 5415136 5415478 342 0
Oct1 H2O2-HelaGSE14283 5379397 5379444 47 0
Oct1 HelaGSE14283 5407101 5407131 30 0
PHF8 293TGSE20725 5427270 5428303 1033 0
PHF8 Hs68minusFBSGSE20725 5427283 5428207 924 0
PolII HeLaGSE12783 5427013 5428542 1529 0
Rb shRbSenescenceGSE19898 5427689 5427886 197 0
Sox2 hESGSE18292 5414961 5415497 536 0
TAF HelaGSE8489 5426529 5426848 319 0
hScc1 BcellGSE12603 5409334 5409515 181 0
hScc1 BcellGSE12603 5415004 5415338 334 0
hScc1 BcellGSE12603 5427417 5427912 495 0
p130 shRbQuiescentGSE19898 5427382 5428196 814 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