AutismKB 2.0

Annotation Detail for NDP


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Basic Information Top
Gene Symbol:NDP ( EVR2,FEVR,ND )
Gene Full Name: Norrie disease (pseudoglioma)
Band: Xp11.3
Quick LinksEntrez ID:4693; OMIM: 300658; Uniprot ID:NDP_HUMAN; ENSEMBL ID: ENSG00000124479; HGNC ID: 7678
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_000266
  • Location:chrX 43692968-43717693
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 43722356 43722387 31 4678
Oct1 HelaGSE14283 43722357 43722387 30 4679
Oct1 HelaGSE14283 43734170 43734240 70 16512
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 43693923 43694210 287 0
CTCF CD4SISSRdata 43693923 43694210 287 0
CTCF G2GSE9613 43693921 43694140 219 0
CTCF G2GSE9613 43702602 43703070 468 0
CTCF G2GSE9613 43713894 43714583 689 0
hScc1 G2GSE9613 43693995 43694167 172 0
hScc1 G2GSE9613 43702202 43703625 1423 0
hScc1 G2GSE9613 43713894 43714432 538 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