AutismKB 2.0

Annotation Detail for PKDREJ


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Basic Information Top
Gene Symbol:PKDREJ ( - )
Gene Full Name: polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)
Band: 22q13.31
Quick LinksEntrez ID:10343; OMIM: 604670; Uniprot ID:PKDRE_HUMAN; ENSEMBL ID: ENSG00000130943; HGNC ID: 9015
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
197N-linked (GlcNAc...) (Potential).
242N-linked (GlcNAc...) (Potential).
295N-linked (GlcNAc...) (Potential).
306N-linked (GlcNAc...) (Potential).
345N-linked (GlcNAc...) (Potential).
349N-linked (GlcNAc...) (Potential).
481N-linked (GlcNAc...) (Potential).
674N-linked (GlcNAc...) (Potential).
849N-linked (GlcNAc...) (Potential).
890N-linked (GlcNAc...) (Potential).
923N-linked (GlcNAc...) (Potential).
939N-linked (GlcNAc...) (Potential).
958N-linked (GlcNAc...) (Potential).
965N-linked (GlcNAc...) (Potential).
1836N-linked (GlcNAc...) (Potential).
1893N-linked (GlcNAc...) (Potential).
1944N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
197N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
242N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
295N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
306N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
345N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
349N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
481N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
674N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
849N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
890N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
923N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
939N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
958N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
965N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1836N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1893N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1944N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
62Phosphoserine(PKA)HMM predict
135Phosphoserine(CDK)HMM predict
135Phosphoserine(CDC2)HMM predict
157Phosphoserine(CDC2)HMM predict
157PhosphoserineHMM predict
157Phosphoserine(IKK)HMM predict
166O-linkedHMM predict
197N-linkedHMM predict
234Phosphoserine(PKG)HMM predict
287Phosphoserine(CDC2)HMM predict
306N-linkedHMM predict
328Phosphotyrosine(SRC)HMM predict
345N-linkedHMM predict
349N-linkedHMM predict
362Phosphoserine(ATM)HMM predict
439Phosphoserine(PKG)HMM predict
439Phosphoserine(PKA)HMM predict
481N-linkedHMM predict
484N-linkedHMM predict
499Phosphoserine(ATM)HMM predict
545Phosphoserine(IKK)HMM predict
605Phosphoserine(CK1)HMM predict
628Phosphothreonine(PKC)HMM predict
671O-linkedHMM predict
674N-linkedHMM predict
695Phosphoserine(CK1)HMM predict
778Phosphothreonine(PKA)HMM predict
832Phosphotyrosine(Jak)HMM predict
849N-linkedHMM predict
862Phosphotyrosine(EGFR)HMM predict
890N-linkedHMM predict
925Phosphoserine(CK1)HMM predict
934Phosphothreonine(PKA)HMM predict
939N-linkedHMM predict
958N-linkedHMM predict
965N-linkedHMM predict
971N-linkedHMM predict
1020O-linkedHMM predict
1227Phosphotyrosine(Syk)HMM predict
1451Phosphoserine(ATM)HMM predict
1512Phosphoserine(CDC2)HMM predict
1516Phosphothreonine(PKC)HMM predict
1552Phosphoserine(CK1)HMM predict
1557Phosphoserine(ATM)HMM predict
1738Phosphotyrosine(Syk)HMM predict
1777N-linkedHMM predict
1836N-linkedHMM predict
1842N-linkedHMM predict
1893N-linkedHMM predict
1962Phosphoserine(PKG)HMM predict
2183Phosphotyrosine(Syk)HMM predict
2250TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006071
  • Location:chr22 45030224-45037882
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 45028684 45028894 210 1436
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45037475 45037986 511 0
H3K4me3 colorectalcancer 45037475 45037804 329 0
hScc1 BcellGSE12603 45037234 45038197 963 0
hScc1 CdLSGSE12603 45037560 45037905 345 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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