AutismKB 2.0

Annotation Detail for PMM1


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Basic Information Top
Gene Symbol:PMM1 ( Sec53 )
Gene Full Name: phosphomannomutase 1
Band: 22q13.2
Quick LinksEntrez ID:5372; OMIM: 601786; Uniprot ID:PMM1_HUMAN; ENSEMBL ID: ENSG00000100417; HGNC ID: 9114
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
25Phosphothreonine(MAPK)HMM predict
56Phosphotyrosine(INSR)HMM predict
75Phosphotyrosine(EGFR)HMM predict
80N-linkedHMM predict
137N-linkedHMM predict
146Phosphothreonine(PKC)HMM predict
218N-linkedHMM predict
239Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002676
  • Location:chr22 40302857-40315758
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 40320193 40320445 252 4561
PHF8 HeLaGSE20725 40315075 40316655 1580 107
Rb GrowingGSE19898 40315915 40316260 345 329
Rb QuiescentGSE19898 40315682 40316302 620 234
Rb SenescentGSE19898 40315619 40316243 624 173
Rb shRbQuiescentGSE19898 40315967 40316167 200 309
Rb shRbSenescenceGSE19898 40315935 40316253 318 336
p130 QuiescentGSE19898 40315954 40316263 309 350
p130 SenescentGSE19898 40315822 40316256 434 281
p130 shRbQuiescentGSE19898 40315903 40316372 469 379
p130 shRbSenescentGSE19898 40315831 40316285 454 300
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 40302909 40303329 420 0
H3K4me3 colorectalcancer 40314823 40315135 312 0
H3ac HepG2E 40314595 40315445 850 0
RARA MCF7GSE15244 40313602 40313955 353 0
Rb shRbQuiescentGSE19898 40303297 40303493 196 0
hScc1 BcellGSE12603 40315099 40315620 521 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
17528 EST chr22 40292520 40298026 172 mRNA PMM1 chr22 40297411 40310313Sense/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