AutismKB 2.0

Annotation Detail for PGAM5


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Basic Information Top
Gene Symbol:PGAM5 ( BXLBV68,MGC5352 )
Gene Full Name: phosphoglycerate mutase family member 5
Band: 12q24.33
Quick LinksEntrez ID:192111; OMIM: NA; Uniprot ID:PGAM5_HUMAN; ENSEMBL ID: ENSG00000176894; HGNC ID: 28763
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
116N6-acetyllysine.
144N6-acetyllysine.
191N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
80Phosphoserine(CK2)HMM predict
121Phosphothreonine(MAPK)HMM predict
121Phosphothreonine(CDK)HMM predict
224Phosphotyrosine(EGFR)HMM predict
256N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138575
  • Location:chr12 131797508-131805822
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 131796817 131797643 826 279
NFkBII GM15510GSE19485 131796571 131798065 1494 191
VDR GM10855-UnstimGSE22484 131796464 131797925 1461 314
VDR GM10861-UnstimGSE22484 131796416 131798551 2135 25
VDR GM10861-stimGSE22484 131796459 131798402 1943 78
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 131806014 131806668 654 519
CTCF G2GSE9613 131807335 131807472 137 1581
CTCF G2GSE9613 131809999 131810361 362 4358
CTCF G2GSE9613 131811652 131812037 385 6022
CTCF G2GSE9613 131813970 131814466 496 8396
CTCF G2GSE9613 131815200 131815384 184 9470
CTCF G2GSE9613 131816994 131817161 167 11255
CTCF G2GSE9613 131822110 131822292 182 16379
CTCF G2GSE9613 131823287 131823805 518 17724
RARG MCF7GSE15244 131818406 131820266 1860 13514
hScc1 BcellGSE12603 131811652 131811813 161 5910
hScc1 BcellGSE12603 131813970 131814182 212 8254
hScc1 BcellGSE12603 131818934 131819718 784 13504
hScc1 G2GSE9613 131816941 131817161 220 11229
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 131796977 131798041 1064 0
CTCF G2GSE9613 131804978 131805494 516 0
H3ac HepG2E 131799888 131800291 403 0
PHF8 HeLaGSE20725 131796719 131798483 1764 0
hScc1 BcellGSE12603 131797849 131798041 192 0
p63 keratinocytesGSE17611 131799514 131800442 928 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
6883 mRNA MGC5352 chr12 131901877 131918581 153 mRNA chr12 131914068 131919036Sense/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


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