AutismKB 2.0

Annotation Detail for GNPDA1


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Basic Information Top
Gene Symbol:GNPDA1 ( GNP1,GNPDA,GNPI,GPI,HLN,KIAA0060 )
Gene Full Name: glucosamine-6-phosphate deaminase 1
Band: 5q31.3
Quick LinksEntrez ID:10007; OMIM: 601798; Uniprot ID:GNPI1_HUMAN; ENSEMBL ID: ENSG00000113552; HGNC ID: 4417
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
64N6-acetyllysine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005471
  • Location:chr5 141360423-141372775
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 141374708 141375419 711 2288
ER E2-MCF7GSE14664 141374982 141375032 50 2232
GABP k562GSE8489 141383619 141385429 1810 11749
Myc K562GSE19551 141372642 141373114 472 103
Oct1 HelaGSE14283 141391095 141391126 31 18335
PHF8 293TGSE20725 141372240 141373372 1132 31
Rb GrowingGSE19898 141373987 141374182 195 1309
Rb shRbSenescenceGSE19898 141375612 141375956 344 3009
USF1 HepG2E 141373089 141374271 1182 905
hScc1 BcellGSE12603 141374708 141375353 645 2255
hScc1 CdLSGSE12603 141374864 141375419 555 2366
p130 QuiescentGSE19898 141372835 141373136 301 210
p130 QuiescentGSE19898 141374995 141375187 192 2316
p130 SenescentGSE19898 141384437 141384764 327 11825
p130 shRbSenescentGSE19898 141372838 141373153 315 220
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 141360552 141360788 236 0
CTCF CD4SISSRdata 141360552 141360788 236 0
CTCF G2GSE9613 141360449 141360866 417 0
CTCF G2GSE9613 141366030 141366305 275 0
CTCF G2GSE9613 141371471 141372932 1461 0
Oct1 HelaGSE14283 141367501 141367539 38 0
PHF8 HeLaGSE20725 141372180 141373217 1037 0
STAT1 HeLaGSE12782 141360079 141361065 986 0
STAT1 HeLaGSE12783 141360113 141361065 952 0
STAT1 IFNSISSRdata 141360083 141360993 910 0
USF1 HepG2E 141371103 141372663 1560 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