AutismKB 2.0

Annotation Detail for POGLUT1


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Basic Information Top
Gene Symbol:POGLUT1 ( C3orf9,CLP46,KDELCL1,KTELC1,MDSRP,MGC32995,Rumi,hCLP46 )
Gene Full Name: protein O-glucosyltransferase 1
Band: 3q13.33
Quick LinksEntrez ID:56983; OMIM: NA; Uniprot ID:PGLT1_HUMAN; ENSEMBL ID: ENSG00000163389; HGNC ID: 22954
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
40N-linked (GlcNAc...) (Potential).
53N-linked (GlcNAc...) (Potential).
204N-linked (GlcNAc...) (Potential).
373N-linked (GlcNAc...) (Potential).
392Prevents secretion from ER (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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
18546 mRNA MDS010 chr3 120670488 120696242 449 EST chr3 120695567 120696102Sense/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