AutismKB 2.0

Annotation Detail for C9orf30


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Basic Information Top
Gene Symbol:C9orf30 ( FLJ34973,MGC17337 )
Gene Full Name: chromosome 9 open reading frame 30
Band: 9q31.1
Quick LinksEntrez ID:91283; OMIM: NA; Uniprot ID:CI030_HUMAN; ENSEMBL ID: ENSG00000066697; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
98Phosphoserine.
274Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080655
  • Location:chr9 102229462-102253331
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 102210816 102210942 126 18584
Myc K562GSE19551 102215221 102215565 344 14070
Nanog hESGSE18292 102215294 102215736 442 13948
Oct1 HelaGSE14283 102224415 102224455 40 5028
PolII HeLaGSE12783 102228036 102230576 2540 157
TAF HelaGSE8489 102228622 102228900 278 702
TAF k562GSE8489 102228622 102229080 458 612
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF k562GSE8489 102256500 102256675 175 3256
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 102231042 102232034 992 0
CTCF CD4GSE12889 102240053 102240375 322 0
CTCF CD4SISSRdata 102240053 102240375 322 0
Fos K562GSE19551 102231211 102231825 614 0
Myc K562GSE19551 102239979 102240302 323 0
Oct1 HelaGSE14283 102233330 102233366 36 0
Oct1 HelaGSE14283 102252128 102252201 73 0
P300 T30-glioblastomaGSE21026 102230978 102232056 1078 0
PHF8 293TGSE20725 102228628 102230296 1668 0
SRF GMOGSE8489 102232107 102232337 230 0
SRF HepG2GSE8489 102232107 102232337 230 0
hScc1 BcellGSE12603 102239797 102240253 456 0
hScc1 CdLSGSE12603 102239861 102240318 457 0
p130 QuiescentGSE19898 102231200 102231428 228 0
p130 QuiescentGSE19898 102242274 102242536 262 0
p130 SenescentGSE19898 102231394 102231831 437 0
p130 shRbSenescentGSE19898 102231361 102231739 378 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