AutismKB 2.0

Annotation Detail for PKD1L2


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Basic Information Top
Gene Symbol:PKD1L2 ( DKFZp686J19100,FLJ45333,PC1L2 )
Gene Full Name: polycystic kidney disease 1-like 2
Band: 16q23.2
Quick LinksEntrez ID:114780; OMIM: 607894; Uniprot ID:PK1L2_HUMAN; ENSEMBL ID: ENSG00000166473; HGNC ID: 21715
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
96N-linked (GlcNAc...) (Potential).
110N-linked (GlcNAc...) (Potential).
268N-linked (GlcNAc...) (Potential).
307N-linked (GlcNAc...) (Potential).
441N-linked (GlcNAc...) (Potential).
536N-linked (GlcNAc...) (Potential).
1176N-linked (GlcNAc...) (Potential).
1186N-linked (GlcNAc...) (Potential).
2035Polycystin motif.
2129Polycystin motif.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001076780
  • Location:chr16 79761397-79811475
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 79814800 79814836 36 3343
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 79772131 79772716 585 0
CTCF CD4GSE12889 79796227 79796435 208 0
CTCF CD4SISSRdata 79796227 79796435 208 0
CTCF HelaGSE12889 79796261 79796451 190 0
CTCF G2GSE9613 79776559 79776822 263 0
CTCF G2GSE9613 79788132 79788300 168 0
CTCF G2GSE9613 79796043 79796443 400 0
CTCF G2GSE9613 79800211 79800385 174 0
CTCF G2GSE9613 79805848 79806218 370 0
CTCF G2GSE9613 79806879 79807279 400 0
ER Fulvestrant-MCF7GSE14664 79768111 79768144 33 0
ER MCF7GSE19013 79805906 79806383 477 0
FOXA1 MCF7GSE15244 79765826 79766950 1124 0
FOXA1 MCF7GSE15244 79771969 79772389 420 0
Fos K562GSE19551 79772255 79772673 418 0
Myc K562GSE19551 79780436 79780796 360 0
NRSF JurkatGSE13047 79761440 79762425 985 0
NRSF mAbJurkat 79761737 79762257 520 0
NRSF mAbJurkat 79763206 79763906 700 0
NRSF mAbJurkat 79765007 79765212 205 0
NRSF mAbJurkat 79768120 79768333 213 0
NRSF-mono JurkatQuESTdata 79761571 79762283 712 0
NRSF pAbJurkat 79768120 79768333 213 0
NRSF-poly JurkatQuESTdata 79761633 79762291 658 0
Oct1 HelaGSE14283 79768113 79768140 27 0
P300 T30-glioblastomaGSE21026 79765572 79767009 1437 0
P300 T30-glioblastomaGSE21026 79771934 79773043 1109 0
RARA MCF7GSE15244 79765606 79767085 1479 0
RARA MCF7GSE15244 79771969 79772389 420 0
Sox2 hESGSE18292 79796263 79796652 389 0
TAF HelaGSE8489 79768191 79769068 877 0
TFAP2C MCF7GSE21234 79765708 79767060 1352 0
TFAP2C MCF7GSE21234 79772092 79772764 672 0
p130 SenescentGSE19898 79772093 79772458 365 0
p130 SenescentGSE19898 79772509 79772690 181 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


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