AutismKB 2.0

Annotation Detail for PON1


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Basic Information Top
Gene Symbol:PON1 ( ESA,MVCD5,PON )
Gene Full Name: paraoxonase 1
Band: 7q21.3
Quick LinksEntrez ID:5444; OMIM: 168820; Uniprot ID:PON1_HUMAN; ENSEMBL ID: ENSG00000005421; HGNC ID: 9204
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
76Phosphoserine (By similarity).
227N-linked (GlcNAc...).
253N-linked (GlcNAc...).
270N-linked (GlcNAc...) (Potential).
324N-linked (GlcNAc...).
Location(AA) Modifications Resource
76Phosphoserine (By similarity).Swiss-Prot 53.0
227N-linked (GlcNAc...).Swiss-Prot 53.0
253N-linked (GlcNAc...).Swiss-Prot 53.0
270N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
324N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
81Phosphoserine(CDC2)HMM predict
81Phosphoserine(CDK)HMM predict
152Phosphoserine(CK1)HMM predict
207Phosphotyrosine(Syk)HMM predict
229Phosphoserine(CDC2)HMM predict
234Phosphotyrosine(Jak)HMM predict
253N-linkedHMM predict
257Phosphothreonine(CDK)HMM predict
324N-linkedHMM predict
331O-linkedHMM predict
331O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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