AutismKB 2.0

Annotation Detail for PGM2L1


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Basic Information Top
Gene Symbol:PGM2L1 ( BM32A,FLJ32029 )
Gene Full Name: phosphoglucomutase 2-like 1
Band: 11q13.4
Quick LinksEntrez ID:283209; OMIM: 611610; Uniprot ID:PGM2L_HUMAN; ENSEMBL ID: ENSG00000165434; HGNC ID: 20898
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
175Phosphoserine.
Location(AA) Modifications Resource
175Phosphoserine.Swiss-Prot 53.0
175PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
122O-linkedHMM predict
124Phosphoserine(IKK)HMM predict
184Phosphotyrosine(Syk)HMM predict
214N-linkedHMM predict
218N-linkedHMM predict
220N-linkedHMM predict
225Phosphoserine(CDC2)HMM predict
257Phosphothreonine(PKC)HMM predict
372N-linkedHMM predict
376N-linkedHMM predict
468N-linkedHMM predict
538Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_173582
  • Location:chr11 73719008-73787149
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 73804175 73804217 42 17047
ER Fulvestrant-MCF7GSE14664 73804164 73804211 47 17038
ETS1 JurkatGSE17954 73786954 73788085 1131 370
NRSF JurkatSISSRdata 73806534 73806927 393 19581
NRSF-mono JurkatQuESTdata 73806303 73807060 757 19532
NRSF-poly JurkatQuESTdata 73806196 73807017 821 19457
Oct1 HelaGSE14283 73794710 73794770 60 7591
Oct1 HelaGSE14283 73802171 73802227 56 15050
Oct1 HelaGSE14283 73804164 73804221 57 17043
P300 T30-glioblastomaGSE21026 73787220 73788048 828 485
PHF8 293TGSE20725 73786517 73787881 1364 50
RARA MCF7GSE15244 73805995 73807319 1324 19508
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 CdLSGSE12603 73710126 73710524 398 8684
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 DLD1GSE12801 73760356 73761014 658 0
FOXA1 MCF7GSE15244 73760435 73760794 359 0
FoxA1 MCF7MACSdata 73760470 73760743 273 0
H3ac HepG2E 73786056 73786452 396 0
NRSF pAbJurkat 73744274 73744505 231 0
Nanog hESGSE18292 73777443 73777830 387 0
Oct1 HelaGSE14283 73726910 73726940 30 0
Oct1 HelaGSE14283 73738394 73738464 70 0
P300 T30-glioblastomaGSE21026 73760098 73761060 962 0
RARA MCF7GSE15244 73743278 73743710 432 0
RARA MCF7GSE15244 73786130 73786452 322 0
TFAP2C MCF7GSE21234 73769721 73770236 515 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