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).
Location(AA) Modifications Resource
173N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
259N-linked (GlcNAc...).Swiss-Prot 53.0
286N-linked (GlcNAc...).Swiss-Prot 53.0
342N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
348N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
35Phosphothreonine(PKA)HMM predict
173N-linkedHMM predict
195N-linkedHMM predict
259N-linkedHMM predict
262Phosphoserine(CK2)HMM predict
286N-linkedHMM predict
301Phosphoserine(PKG)HMM predict
335Phosphothreonine(CDC2)HMM predict
342N-linkedHMM predict
348N-linkedHMM predict
384TyrosineHMM predict
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
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 17985753 17986585 832 0
FOXA1 MCF7GSE15244 17986339 17986608 269 0
H3K4me3 colorectalcancer 17986131 17986684 553 0
H3ac HepG2E 17986339 17986770 431 0
PHF8 293TGSE20725 17985508 17986866 1358 0
PHF8 HeLaGSE20725 17985364 17987084 1720 0
PHF8 Hs68plusFBSGSE20725 17984746 17987219 2473 0
RARA MCF7GSE15244 17986339 17986642 303 0
USF1 HepG2E 17986177 17986684 507 0
hScc1 BcellGSE12603 17985265 17986642 1377 0
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