AutismKB 2.0

Annotation Detail for ASAH1


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Basic Information Top
Gene Symbol:ASAH1 ( AC,ACDase,ASAH,FLJ21558,FLJ22079,PHP,PHP32 )
Gene Full Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1
Band: 8p22
Quick LinksEntrez ID:427; OMIM: 613468; Uniprot ID:ASAH1_HUMAN; ENSEMBL ID: ENSG00000104763; HGNC ID: 735
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
173N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
259N-linked (GlcNAc...).
286N-linked (GlcNAc...).
342N-linked (GlcNAc...) (Potential).
348N-linked (GlcNAc...) (Potential).
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004315
  • Location:chr8 17958221-17986756
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb QuiescentGSE19898 17995735 17995960 225 9091
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
25125 HTC chr8 17986656 17999406 72 mRNA ASAH1 chr8 17958220 17986757Sense/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