AutismKB 2.0

Annotation Detail for RPGRIP1L


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Basic Information Top
Gene Symbol:RPGRIP1L ( CORS3,DKFZp686C0668,FTM,JBTS7,KIAA1005,MKS5,NPHP8 )
Gene Full Name: RPGRIP1-like
Band: 16q12.2
Quick LinksEntrez ID:23322; OMIM: 610937; Uniprot ID:FTM_HUMAN; ENSEMBL ID: ENSG00000103494; HGNC ID: 29168
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_015272
  • Location:chr16 52192192-52295258
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 52294749 52296172 1423 202
H3ac HepG2E 52295487 52296980 1493 975
P300 T0-glioblastomaGSE21026 52295071 52295896 825 225
P300 T30-glioblastomaGSE21026 52294606 52296021 1415 55
PHF8 293TGSE20725 52295157 52296122 965 381
PHF8 HeLaGSE20725 52294655 52296039 1384 89
PHF8 Hs68minusFBSGSE20725 52295111 52296310 1199 452
p130 QuiescentGSE19898 52295025 52295527 502 18
p130 SenescentGSE19898 52294837 52295943 1106 132
p130 shRbQuiescentGSE19898 52294824 52296193 1369 250
p130 shRbSenescentGSE19898 52294887 52295734 847 52
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 52173211 52173609 398 18783
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 52287644 52287684 40 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