AutismKB 2.0

Annotation Detail for PMM2


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Basic Information Top
Gene Symbol:PMM2 ( CDG1,CDG1a,CDGS,PMM 2 )
Gene Full Name: phosphomannomutase 2
Band: 16p13.2
Quick LinksEntrez ID:5373; OMIM: 601785; Uniprot ID:PMM2_HUMAN; ENSEMBL ID: ENSG00000140650; HGNC ID: 9115
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
25Phosphothreonine(PKA)HMM predict
66SulfotyrosineHMM predict
128N-linkedHMM predict
130Phosphoserine(CDK)HMM predict
137Phosphoserine(ATM)HMM predict
201Phosphotyrosine(EGFR)HMM predict
201Phosphotyrosine(INSR)HMM predict
201Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000303
  • Location:chr16 8799192-8850683
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 8798910 8799297 387 89
Oct4 hESGSE17917 8798903 8799315 412 84
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 8833339 8835022 1683 0
ER E2-MCF7GSE14664 8810498 8810530 32 0
ER E2-MCF7GSE14664 8822525 8822561 36 0
H3K4me3 colorectalcancer 8799465 8800226 761 0
Nanog hESGSE18292 8833093 8833592 499 0
Oct1 H2O2-HelaGSE14283 8800934 8800997 63 0
Oct1 H2O2-HelaGSE14283 8825095 8825126 31 0
Oct1 H2O2-HelaGSE14283 8837843 8837896 53 0
Oct1 HelaGSE14283 8800931 8801008 77 0
Oct1 HelaGSE14283 8820897 8820929 32 0
Oct1 HelaGSE14283 8822526 8822562 36 0
Oct1 HelaGSE14283 8837843 8837887 44 0
Oct4 hESGSE17917 8833370 8833722 352 0
Oct4 hESGSE21916 8833154 8834134 980 0
PHF8 HeLaGSE20725 8798500 8799981 1481 0
RARA MCF7GSE15244 8799403 8800226 823 0
TAF HelaGSE8489 8810525 8810743 218 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
9590 mRNA PMM2 chr16 8799192 8850684 356 EST chr16 8849007 8850082Sense/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