AutismKB 2.0

Annotation Detail for PEX5


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Basic Information Top
Gene Symbol:PEX5 ( FLJ50634,FLJ50721,FLJ51948,PTS1-BP,PTS1R,PXR1 )
Gene Full Name: peroxisomal biogenesis factor 5
Band: 12p13.31
Quick LinksEntrez ID:5830; OMIM: 600414; Uniprot ID:PEX5_HUMAN; ENSEMBL ID: ENSG00000139197; HGNC ID: 9719
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
47Phosphoserine(IKK)HMM predict
47O-linkedHMM predict
135SulfotyrosineHMM predict
136N-linkedHMM predict
155Phosphoserine(CDC2)HMM predict
279Phosphoserine(PKG)HMM predict
279Phosphoserine(PKB)HMM predict
320Phosphotyrosine(INSR)HMM predict
441Phosphothreonine(MAPK)HMM predict
499N-linkedHMM predict
536N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000319
  • Location:chr12 7234223-7255341
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 7232437 7232621 184 1695
CTCF CD4SISSRdata 7232437 7232621 184 1695
CTCF G2GSE9613 7232124 7232779 655 1772
FOXA1 DLD1GSE12801 7232669 7233019 350 1380
FOXA1 MCF7GSE15244 7232744 7233125 381 1289
Rb QuiescentGSE19898 7233230 7233471 241 873
Rb QuiescentGSE19898 7233684 7233875 191 444
Rb QuiescentGSE19898 7233906 7234118 212 212
Rb SenescentGSE19898 7233257 7233545 288 823
hScc1 BcellGSE12603 7232197 7232744 547 1753
hScc1 CdLSGSE12603 7232163 7232779 616 1753
hScc1 G2GSE9613 7232269 7232779 510 1700
p130 QuiescentGSE19898 7233266 7233417 151 882
p130 QuiescentGSE19898 7233795 7233958 163 347
p130 SenescentGSE19898 7233100 7233365 265 991
p130 shRbSenescentGSE19898 7233976 7234238 262 117
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 7263548 7263802 254 8334
CTCF CD4SISSRdata 7263548 7263802 254 8334
CTCF G2GSE9613 7263421 7263777 356 8258
Myc K562GSE19551 7263515 7263873 358 8353
Nanog hESGSE18292 7266500 7266711 211 11264
hScc1 BcellGSE12603 7263421 7263777 356 8258
hScc1 CdLSGSE12603 7263421 7263777 356 8258
hScc1 G2GSE9613 7263421 7263777 356 8258
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 7246016 7246272 256 0
CTCF G2GSE9613 7252231 7252413 182 0
H3ac HepG2E 7234163 7234895 732 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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