AutismKB 2.0

Annotation Detail for GNPTAB


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Basic Information Top
Gene Symbol:GNPTAB ( DKFZp762B226,GNPTA,ICD,KIAA1208,MGC4170 )
Gene Full Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Band: 12q23.2
Quick LinksEntrez ID:79158; OMIM: 607840; Uniprot ID:GNPTA_HUMAN; ENSEMBL ID: ENSG00000111670; HGNC ID: 29670
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
83N-linked (GlcNAc...) (Potential).
114N-linked (GlcNAc...) (Potential).
148N-linked (GlcNAc...) (Potential).
179N-linked (GlcNAc...) (Potential).
250N-linked (GlcNAc...) (Potential).
614N-linked (GlcNAc...) (Potential).
699N-linked (GlcNAc...).
729N-linked (GlcNAc...) (Potential).
829N-linked (GlcNAc...) (Potential).
1009N-linked (GlcNAc...) (Potential).
1129N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
83N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
114N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
148N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
250N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
614N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
729N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
829N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1009N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1129N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
83N-linkedHMM predict
114N-linkedHMM predict
148N-linkedHMM predict
206Phosphothreonine(PKC)HMM predict
298Phosphoserine(MAPK)HMM predict
376N-linkedHMM predict
385Phosphoserine(CDC2)HMM predict
457N-linkedHMM predict
458N-linkedHMM predict
469Phosphoserine(ATM)HMM predict
551N-linkedHMM predict
607N-linkedHMM predict
614N-linkedHMM predict
619N-linkedHMM predict
642N-linkedHMM predict
684N-linkedHMM predict
743Phosphoserine(ATM)HMM predict
759N-linkedHMM predict
829N-linkedHMM predict
847Phosphothreonine(PKC)HMM predict
853Phosphothreonine(CK2)HMM predict
909Phosphoserine(CK1)HMM predict
1035Phosphothreonine(PKA)HMM predict
1078Phosphotyrosine(Syk)HMM predict
1089Phosphoserine(IKK)HMM predict
1163Phosphothreonine(PKC)HMM predict
1172Phosphotyrosine(Syk)HMM predict
1244ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024312
  • Location:chr12 100663408-100748762
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 100757723 100757984 261 9091
CTCF CD4SISSRdata 100757723 100757984 261 9091
CTCF JurkatGSE12889 100757745 100758065 320 9143
CTCF G2GSE9613 100758000 100758133 133 9304
Oct1 HelaGSE14283 100763625 100763661 36 14881
Sox2 hESGSE18292 100757808 100758080 272 9182
hScc1 CdLSGSE12603 100748419 100749209 790 52
hScc1 CdLSGSE12603 100758000 100758206 206 9341
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 100662603 100662640 37 787
USF1 HepG2E 100660636 100661121 485 2530
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 100677457 100677742 285 0
CTCF CD4GSE12889 100691468 100691807 339 0
CTCF CD4SISSRdata 100677457 100677742 285 0
CTCF CD4SISSRdata 100691468 100691807 339 0
CTCF G2GSE9613 100669321 100669453 132 0
CTCF G2GSE9613 100677534 100677754 220 0
CTCF G2GSE9613 100690415 100690695 280 0
CTCF G2GSE9613 100691568 100692036 468 0
CTCF G2GSE9613 100709967 100710253 286 0
CTCF G2GSE9613 100739358 100739653 295 0
CTCF G2GSE9613 100748225 100749282 1057 0
ER E2-MCF7GSE14664 100682438 100682476 38 0
Fos K562GSE19551 100711179 100711661 482 0
FoxA1 MCF7MACSdata 100679281 100679501 220 0
H3K4me2 HCT116GSE10453 100747417 100747817 400 0
H3K4me3 colorectalcancer 100747417 100748153 736 0
H3ac HepG2E 100744083 100744224 141 0
H3ac HepG2E 100747417 100747854 437 0
Myc K562GSE19551 100711333 100711635 302 0
Myc K562GSE19551 100741814 100742168 354 0
RARG MCF7GSE15244 100682057 100682503 446 0
STAT1 IFNSISSRdata 100691412 100691998 586 0
hScc1 BcellGSE12603 100677350 100677719 369 0
hScc1 BcellGSE12603 100691497 100692075 578 0
hScc1 BcellGSE12603 100748225 100749169 944 0
hScc1 CdLSGSE12603 100677350 100677903 553 0
hScc1 CdLSGSE12603 100691332 100692036 704 0
hScc1 G2GSE9613 100669251 100669453 202 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
6505 EST chr12 100655931 100656480 114 mRNA MGC4170 chr12 100641745 100727100Sense/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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