AutismKB 2.0

Annotation Detail for POMGNT1


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Basic Information Top
Gene Symbol:POMGNT1 ( DKFZp761B182,FLJ20277,GNTI.2,MEB,MGAT1.2 )
Gene Full Name: protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Band: 1p34.1
Quick LinksEntrez ID:55624; OMIM: 606822; Uniprot ID:PMGT1_HUMAN; ENSEMBL ID: ENSG00000085998; HGNC ID: 19139
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
7Phosphoserine(CDC2)HMM predict
66Phosphoserine(PKG)HMM predict
66Phosphoserine(CAMK2)HMM predict
66Phosphoserine(PKB)HMM predict
78SulfotyrosineHMM predict
78Phosphotyrosine(Syk)HMM predict
78Phosphotyrosine(EGFR)HMM predict
93PhosphoserineHMM predict
93Phosphoserine(PKA)HMM predict
93Phosphoserine(PKC)HMM predict
198Phosphoserine(IKK)HMM predict
280O-linkedHMM predict
341Phosphotyrosine(Syk)HMM predict
407Phosphoserine(ATM)HMM predict
430Phosphotyrosine(Syk)HMM predict
468Phosphothreonine(CDK)HMM predict
516Phosphotyrosine(Jak)HMM predict
541Phosphotyrosine(INSR)HMM predict
575Phosphotyrosine(EGFR)HMM predict
575Phosphotyrosine(Abl)HMM predict
629Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017739
  • Location:chr1 46426940-46436707
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 46436004 46437523 1519 56
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46425551 46425827 276 1252
TFAP2C MCF7GSE21234 46425637 46426278 641 983
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46436311 46436518 207 0
CTCF CD4SISSRdata 46436311 46436518 207 0
CTCF G2GSE9613 46430347 46430670 323 0
CTCF G2GSE9613 46436326 46437001 675 0
H3ac HepG2E 46435028 46436089 1061 0
PHF8 293TGSE20725 46435974 46437313 1339 0
hScc1 BcellGSE12603 46436362 46437051 689 0
hScc1 G2GSE9613 46436127 46436861 734 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