AutismKB 2.0

Annotation Detail for CASQ1


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Basic Information Top
Gene Symbol:CASQ1 ( CASQ,PDIB1 )
Gene Full Name: calsequestrin 1 (fast-twitch, skeletal muscle)
Band: 1q23.2
Quick LinksEntrez ID:844; OMIM: 114250; Uniprot ID:CASQ1_HUMAN; ENSEMBL ID: ENSG00000143318; HGNC ID: 1512
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
350N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
344N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
37Phosphotyrosine(Syk)HMM predict
37Phosphotyrosine(INSR)HMM predict
188SulfotyrosineHMM predict
188Phosphotyrosine(Syk)HMM predict
226Phosphotyrosine(Syk)HMM predict
242Phosphoserine(CK2)HMM predict
242PhosphoserineHMM predict
257Phosphothreonine(PKA)HMM predict
257Phosphothreonine(PKC)HMM predict
344N-linkedHMM predict
381Phosphothreonine(CK2)HMM 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