AutismKB 2.0

Annotation Detail for PEX5L


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Basic Information Top
Gene Symbol:PEX5L ( PEX5R,PXR2,PXR2B )
Gene Full Name: peroxisomal biogenesis factor 5-like
Band: 3q26.33
Quick LinksEntrez ID:51555; OMIM: 611058; Uniprot ID:PEX5R_HUMAN; ENSEMBL ID: ENSG00000114757; HGNC ID: 30024
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
261Phosphoserine (By similarity).
447Phosphoserine (By similarity).
Location(AA) Modifications Resource
261Phosphoserine (By similarity).Swiss-Prot 53.0
447Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
14Phosphotyrosine(EGFR)HMM predict
14Phosphotyrosine(Jak)HMM predict
14Phosphotyrosine(INSR)HMM predict
18Phosphoserine(CK2)HMM predict
54Phosphoserine(PKG)HMM predict
79Phosphoserine(MAPK)HMM predict
119Phosphoserine(IKK)HMM predict
119Phosphoserine(ATM)HMM predict
121O-linkedHMM predict
128Phosphoserine(IKK)HMM predict
131O-linkedHMM predict
131Phosphoserine(CK2)HMM predict
131O-linkedHMM predict
131Phosphoserine(CK1)HMM predict
132Phosphoserine(IKK)HMM predict
135Phosphoserine(CDC2)HMM predict
188Phosphothreonine(PKC)HMM predict
199Phosphoserine(CK1)HMM predict
199Phosphoserine(CDC2)HMM predict
201Phosphoserine(CK1)HMM predict
216Phosphoserine(ATM)HMM predict
221Phosphoserine(ATM)HMM predict
246Phosphothreonine(PKC)HMM predict
259N-linkedHMM predict
261Phosphoserine(CK1)HMM predict
261Phosphoserine(PKG)HMM predict
261PhosphoserineHMM predict
316SulfotyrosineHMM predict
437Phosphoserine(CDC2)HMM predict
445Phosphoserine(PKG)HMM predict
445Phosphoserine(PKA)HMM predict
447Phosphoserine(CDC2)HMM predict
502Phosphothreonine(PKC)HMM predict
558Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016559
  • Location:chr3 181000743-181237210
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 181237103 181237795 692 239
NRSF JurkatGSE13047 181236624 181237977 1353 90
NRSF mAbJurkat 181237856 181238441 585 938
NRSF-mono JurkatQuESTdata 181236629 181237970 1341 89
NRSF-poly JurkatQuESTdata 181236673 181237994 1321 123
Rb GrowingGSE19898 181237204 181237347 143 65
Rb QuiescentGSE19898 181237754 181237925 171 629
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 181156299 181158696 2397 0
CTCF CD4GSE12889 181129627 181129924 297 0
CTCF CD4SISSRdata 181129627 181129924 297 0
CTCF G2GSE9613 181011993 181012531 538 0
CTCF G2GSE9613 181019885 181020133 248 0
CTCF G2GSE9613 181034880 181035092 212 0
CTCF G2GSE9613 181061938 181062166 228 0
CTCF G2GSE9613 181116249 181116386 137 0
CTCF G2GSE9613 181130076 181130265 189 0
CTCF G2GSE9613 181150430 181150693 263 0
CTCF G2GSE9613 181157936 181158194 258 0
CTCF G2GSE9613 181161728 181161929 201 0
CTCF G2GSE9613 181165528 181165774 246 0
CTCF G2GSE9613 181222053 181222268 215 0
CTCF G2GSE9613 181225091 181225273 182 0
FOXA1 MCF7GSE15244 181163350 181163933 583 0
FoxA1 MCF7MACSdata 181163564 181163761 197 0
NFkBII GM12878GSE19485 181082068 181084491 2423 0
NFkBII GM12892GSE19485 181082405 181084138 1733 0
NRSF mAbJurkat 181235885 181237171 1286 0
Oct4 hESGSE17917 181150078 181150291 213 0
TFAP2C MCF7GSE21234 181026385 181026736 351 0
TFAP2C MCF7GSE21234 181066691 181067034 343 0
hScc1 BcellGSE12603 181012065 181012531 466 0
hScc1 BcellGSE12603 181083654 181083943 289 0
hScc1 BcellGSE12603 181142608 181143035 427 0
hScc1 BcellGSE12603 181219064 181219519 455 0
hScc1 CdLSGSE12603 181011951 181012605 654 0
hScc1 CdLSGSE12603 181129410 181130371 961 0
hScc1 CdLSGSE12603 181218807 181219661 854 0
hScc1 G2GSE9613 181011993 181012605 612 0
hScc1 G2GSE9613 181061910 181062285 375 0
p63 keratinocytesGSE17611 181169949 181170388 439 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
19051 EST chr3 181075873 181082040 94 mRNA PEX5L chr3 181000751 181237219Sense/Antisense (SA) pairs

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