AutismKB 2.0

Annotation Detail for ALAS2


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Basic Information Top
Gene Symbol:ALAS2 ( ALAS-E,ALASE,ANH1,ASB,FLJ93603,XLDPP,XLSA )
Gene Full Name: aminolevulinate, delta-, synthase 2
Band: Xp11.21
Quick LinksEntrez ID:212; OMIM: 301300; Uniprot ID:HEM0_HUMAN; ENSEMBL ID: ENSG00000158578; HGNC ID: 397
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
391N6-(pyridoxal phosphate)lysine
Location(AA) Modifications Resource
Location(AA) Modification Resource
11S-palmitoylHMM predict
47N-linkedHMM predict
185Phosphoserine(CK2)HMM predict
188O-linkedHMM predict
199Phosphotyrosine(INSR)HMM predict
199Phosphotyrosine(Syk)HMM predict
228N-linkedHMM predict
262N-linkedHMM predict
368MethylarginineHMM predict
439O-linkedHMM predict
521Phosphoserine(CDC2)HMM predict
521Phosphoserine(ATM)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