AutismKB 2.0

Annotation Detail for PKD2L1


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Basic Information Top
Gene Symbol:PKD2L1 ( PCL,PKD2L,PKDL,TRPP3 )
Gene Full Name: polycystic kidney disease 2-like 1
Band: 10q24.31
Quick LinksEntrez ID:9033; OMIM: 604532; Uniprot ID:PK2L1_HUMAN; ENSEMBL ID: ENSG00000107593; HGNC ID: 9011
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
177N-linked (GlcNAc...) (Potential).
207Polycystin motif.
207N-linked (GlcNAc...) (Potential).
241N-linked (GlcNAc...) (Potential).
505N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
177N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
207N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
241N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
505N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(CDK)HMM predict
30Phosphoserine(CDC2)HMM predict
30Phosphoserine(CDK)HMM predict
62Phosphotyrosine(Abl)HMM predict
64Phosphothreonine(PKC)HMM predict
70S-palmitoylHMM predict
190Phosphotyrosine(Syk)HMM predict
190SulfotyrosineHMM predict
207N-linkedHMM predict
241N-linkedHMM predict
425Phosphotyrosine(Syk)HMM predict
425Phosphotyrosine(EGFR)HMM predict
460N-linkedHMM predict
561N-linkedHMM predict
564Phosphotyrosine(SRC)HMM predict
589N-linkedHMM predict
686Phosphoserine(CDC2)HMM predict
686Phosphoserine(CDK)HMM predict
708Phosphotyrosine(SRC)HMM predict
747Phosphoserine(CDC2)HMM predict
766O-linkedHMM predict
766O-linkedHMM predict
766Phosphothreonine(MAPK)HMM predict
795Phosphoserine(PKG)HMM predict
801Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016112
  • Location:chr10 102037892-102080232
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 102088236 102088510 274 8141
CTCF CD4SISSRdata 102088236 102088510 274 8141
FoxA1 MCF7MACSdata 102088278 102088713 435 8263
H3K27me3 colorectalcancer 102082712 102083213 501 2730
H3K27me3 colorectalcancer 102083650 102084615 965 3900
hScc1 BcellGSE12603 102088231 102088606 375 8186
hScc1 CdLSGSE12603 102088231 102088626 395 8196
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 102074672 102075383 711 0
NRSF JurkatSISSRdata 102074822 102075279 457 0
NRSF mAbJurkat 102074318 102076253 1935 0
NRSF-mono JurkatQuESTdata 102074629 102075291 662 0
NRSF-poly JurkatQuESTdata 102046977 102047440 463 0
NRSF-poly JurkatQuESTdata 102074575 102075383 808 0
Oct1 HelaGSE14283 102045081 102045111 30 0
STAT1 HeLaGSE12783 102057195 102058268 1073 0
TFAP2C MCF7GSE21234 102050813 102051327 514 0
hScc1 BcellGSE12603 102047119 102047371 252 0
hScc1 BcellGSE12603 102053573 102053889 316 0
hScc1 CdLSGSE12603 102053361 102053940 579 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