AutismKB 2.0

Annotation Detail for PRELP


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Basic Information Top
Gene Symbol:PRELP ( MGC45323,MST161,MSTP161,SLRR2A )
Gene Full Name: proline/arginine-rich end leucine-rich repeat protein
Band: 1q32.1
Quick LinksEntrez ID:5549; OMIM: 601914; Uniprot ID:PRELP_HUMAN; ENSEMBL ID: ENSG00000188783; HGNC ID: 9357
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
124N-linked (GlcNAc...).
289N-linked (GlcNAc...) (Potential).
320N-linked (GlcNAc...) (Potential).
327N-linked (GlcNAc...).
Location(AA) Modifications Resource
124N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
289N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
320N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
327N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
23Phosphothreonine(PKC)HMM predict
43Phosphothreonine(PKA)HMM predict
43O-linkedHMM predict
106Phosphotyrosine(Jak)HMM predict
124N-linkedHMM predict
179Phosphoserine(ATM)HMM predict
242Phosphothreonine(PKA)HMM predict
320N-linkedHMM predict
321N-linkedHMM predict
327N-linkedHMM predict
354Phosphotyrosine(Jak)HMM predict
361Phosphotyrosine(Jak)HMM predict
361Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002725
  • Location:chr1 201711505-201727099
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 201698587 201699251 664 12587
TFAP2C MCF7GSE21234 201694903 201695326 423 16391
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 201723589 201723885 296 0
CTCF CD4SISSRdata 201723589 201723885 296 0
ETS1 JurkatGSE17954 201723148 201723951 803 0
Rb GrowingGSE19898 201716295 201716506 211 0
Rb QuiescentGSE19898 201716280 201716706 426 0
p130 QuiescentGSE19898 201716473 201716701 228 0
p130 SenescentGSE19898 201716206 201716839 633 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