AutismKB 2.0

Annotation Detail for HAP1


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Basic Information Top
Gene Symbol:HAP1 ( HAP2,HIP5,HLP,hHLP1 )
Gene Full Name: huntingtin-associated protein 1
Band: 17q21.2
Quick LinksEntrez ID:9001; OMIM: 600947; Uniprot ID:HAP1_HUMAN; ENSEMBL ID: ENSG00000173805; HGNC ID: 4812
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
10S-palmitoylHMM predict
28Phosphoserine(CDC2)HMM predict
28O-linkedHMM predict
30O-linkedHMM predict
32Phosphoserine(CDC2)HMM predict
32Phosphoserine(CDK)HMM predict
32Phosphoserine(ATM)HMM predict
32O-linkedHMM predict
32PhosphoserineHMM predict
32Phosphoserine(MAPK)HMM predict
38O-linkedHMM predict
46Phosphothreonine(PKC)HMM predict
84PhosphoserineHMM predict
116MethylarginineHMM predict
120MethylarginineHMM predict
194Phosphotyrosine(Abl)HMM predict
259Phosphoserine(CK2)HMM predict
259Phosphoserine(ATM)HMM predict
336Phosphoserine(IKK)HMM predict
336Phosphoserine(ATM)HMM predict
340Phosphothreonine(CK2)HMM predict
464O-linkedHMM predict
464O-linkedHMM predict
465O-linkedHMM predict
467O-linkedHMM predict
517Phosphothreonine(PKA)HMM predict
656GlycineHMM predict
665Phosphoserine(IKK)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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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