AutismKB 2.0

Annotation Detail for DSG1


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Basic Information Top
Gene Symbol:DSG1 ( CDHF4,DG1,DSG,PPKS1,SPPK1 )
Gene Full Name: desmoglein 1
Band: 18q12.1
Quick LinksEntrez ID:1828; OMIM: 125670; Uniprot ID:DSG1_HUMAN; ENSEMBL ID: ENSG00000134760; HGNC ID: 3048
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
36N-linked (GlcNAc...) (Potential).
110N-linked (GlcNAc...).
180N-linked (GlcNAc...) (Potential).
579Phosphoserine.
Location(AA) Modifications Resource
36N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
110N-linked (GlcNAc...).Swiss-Prot 53.0
180N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
36N-linkedHMM predict
84Phosphothreonine(PKC)HMM predict
110N-linkedHMM predict
180N-linkedHMM predict
268Phosphotyrosine(Syk)HMM predict
339Phosphotyrosine(INSR)HMM predict
419Phosphothreonine(PKC)HMM predict
420Phosphothreonine(PKC)HMM predict
443Phosphothreonine(PKC)HMM predict
509Phosphoserine(IKK)HMM predict
509Phosphoserine(PKB)HMM predict
511Phosphoserine(CK1)HMM predict
513O-linkedHMM predict
517O-linkedHMM predict
518O-linkedHMM predict
521Phosphoserine(IKK)HMM predict
522O-linkedHMM predict
525Phosphoserine(ATM)HMM predict
528Phosphotyrosine(SRC)HMM predict
528Phosphotyrosine(Jak)HMM predict
571S-palmitoylHMM predict
633Phosphotyrosine(INSR)HMM predict
675Phosphothreonine(PKC)HMM predict
680Phosphoserine(PKB)HMM predict
728Phosphoserine(CDK)HMM predict
728Phosphoserine(CDC2)HMM predict
800O-linkedHMM predict
806O-linkedHMM predict
807O-linkedHMM predict
810O-linkedHMM predict
812O-linkedHMM predict
816O-linkedHMM predict
834N-linkedHMM predict
842O-linkedHMM predict
846O-linkedHMM predict
904Phosphoserine(CK1)HMM predict
904O-linkedHMM predict
908O-linkedHMM predict
1019Phosphoserine(ATM)HMM predict
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
12039 mRNA DSG1 chr18 27152049 27190453 276 EST chr18 27177328 27260888Sense/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