AutismKB 2.0

Annotation Detail for PKHD1L1


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Basic Information Top
Gene Symbol:PKHD1L1 ( DKFZp586C1021,PKHDL1 )
Gene Full Name: polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1
Band: 8q23.1-q23.2
Quick LinksEntrez ID:93035; OMIM: 607843; Uniprot ID:PKHL1_HUMAN; ENSEMBL ID: ENSG00000205038; HGNC ID: 20313
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
122O-linked (GalNAc...) (Potential).
445O-linked (GalNAc...) (Potential).
1803O-linked (GalNAc...) (Potential).
1839O-linked (GalNAc...) (Potential).
2320O-linked (GalNAc...) (Potential).
3736O-linked (GalNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_177531
  • Location:chr8 110443881-110611739
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 110442900 110442937 37 963
Oct1 HelaGSE14283 110442902 110442935 33 963
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 110613665 110613696 31 1941
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 110532137 110532666 529 0
ER E2-MCF7GSE14664 110469257 110469300 43 0
Myc K562GSE19551 110450943 110451306 363 0
Myc K562GSE19551 110509957 110510232 275 0
NFkBII GM12878GSE19485 110605608 110607597 1989 0
Oct1 H2O2-HelaGSE14283 110480584 110480612 28 0
Oct1 H2O2-HelaGSE14283 110485724 110485751 27 0
Oct1 H2O2-HelaGSE14283 110492050 110492086 36 0
Oct1 H2O2-HelaGSE14283 110558055 110558084 29 0
Oct1 HelaGSE14283 110485726 110485754 28 0
Oct1 HelaGSE14283 110492050 110492086 36 0
Oct1 HelaGSE14283 110575767 110575799 32 0
Oct1 HelaGSE14283 110577473 110577502 29 0
Oct4 hESGSE17917 110532389 110532627 238 0
RARA MCF7GSE15244 110551774 110552163 389 0
hScc1 BcellGSE12603 110532279 110532748 469 0
hScc1 CdLSGSE12603 110532209 110532922 713 0
hScc1 G2GSE9613 110532245 110532666 421 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