AutismKB 2.0

Annotation Detail for GMPPA


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Basic Information Top
Gene Symbol:GMPPA ( - )
Gene Full Name: GDP-mannose pyrophosphorylase A
Band: 2q35
Quick LinksEntrez ID:29926; OMIM: NA; Uniprot ID:GMPPA_HUMAN; ENSEMBL ID: ENSG00000144591; HGNC ID: 22923
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013335
  • Location:chr2 220071856-220079953
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 220068453 220068752 299 3254
CTCF CD4SISSRdata 220068453 220068752 299 3254
CTCF JurkatGSE12889 220068426 220068637 211 3325
CTCF G2GSE9613 220052030 220052188 158 19748
CTCF G2GSE9613 220056248 220058254 2006 14606
CTCF G2GSE9613 220061614 220062744 1130 9678
CTCF G2GSE9613 220063300 220063966 666 8224
CTCF G2GSE9613 220064746 220066374 1628 6297
CTCF G2GSE9613 220068329 220068675 346 3355
CTCF G2GSE9613 220069807 220070272 465 1817
CTCF G2GSE9613 220070624 220072044 1420 523
ER MCF7GSE19013 220064176 220065200 1024 7169
ETS1 JurkatGSE17954 220071174 220072306 1132 117
P300 T30-glioblastomaGSE21026 220070571 220072718 2147 212
PHF8 Hs68plusFBSGSE20725 220070707 220072202 1495 402
Rb GrowingGSE19898 220062707 220062844 137 9081
TFAP2C MCF7GSE21234 220071329 220071937 608 224
USF1 HepG2E 220067339 220069262 1923 3556
USF2 HepG2E 220068239 220069176 937 3149
hScc1 BcellGSE12603 220056211 220057938 1727 14782
hScc1 BcellGSE12603 220070039 220070624 585 1525
hScc1 BcellGSE12603 220071113 220071785 672 408
hScc1 G2GSE9613 220057193 220058286 1093 14117
p130 shRbQuiescentGSE19898 220071079 220072379 1300 128
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 shRbSenescentGSE19898 220071585 220072132 547 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