AutismKB 2.0

Annotation Detail for UAP1L1


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Basic Information Top
Gene Symbol:UAP1L1 ( RP11-229P13.18 )
Gene Full Name: UDP-N-acteylglucosamine pyrophosphorylase 1-like 1
Band: 9q34.3
Quick LinksEntrez ID:91373; OMIM: NA; Uniprot ID:UAP1L_HUMAN; ENSEMBL ID: ENSG00000197355; HGNC ID: 28082
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
114Substrate binding.
307Substrate binding.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_207309
  • Location:chr9 139092413-139098811
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 139090703 139092887 2184 619
hScc1 BcellGSE12603 139091803 139092577 774 224
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 139092271 139092654 383 0
hScc1 BcellGSE12603 139093272 139093669 397 0
hScc1 BcellGSE12603 139096855 139097060 205 0
p130 shRbQuiescentGSE19898 139097516 139098039 523 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