AutismKB 2.0

Annotation Detail for ASAH2


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Basic Information Top
Gene Symbol:ASAH2 ( BCDase,HNAC1,MGC129777,NCDase )
Gene Full Name: N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
Band: 10q11.23
Quick LinksEntrez ID:56624; OMIM: 611202; Uniprot ID:ASAH2_HUMAN; ENSEMBL ID: ENSG00000188611; HGNC ID: 18860
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
62O-linked (GalNAc...) (Potential).
67O-linked (GalNAc...) (Potential).
68O-linked (GalNAc...) (Potential).
70O-linked (GalNAc...) (Potential).
73O-linked (GalNAc...) (Potential).
74O-linked (GalNAc...) (Potential).
76O-linked (GalNAc...) (Potential).
78O-linked (GalNAc...) (Potential).
79O-linked (GalNAc...) (Potential).
80O-linked (GalNAc...) (Potential).
82O-linked (GalNAc...) (Potential).
84O-linked (GalNAc...) (Potential).
98N-linked (GlcNAc...) (Potential).
151N-linked (GlcNAc...) (Potential).
217N-linked (GlcNAc...) (Potential).
468N-linked (GlcNAc...) (Potential).
564N-linked (GlcNAc...) (Potential).
730N-linked (GlcNAc...) (Potential).
779O-linked (GalNAc...) (Potential).
Location(AA) Modifications Resource
62O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
67O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
68O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
70O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
73O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
74O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
76O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
78O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
79O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
80O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
82O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
84O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
98N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
151N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
217N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
468N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
564N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
730N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
779O-linked (GalNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
52O-linkedHMM predict
54Phosphoserine(IKK)HMM predict
54Phosphoserine(CDC2)HMM predict
58O-linkedHMM predict
67O-linkedHMM predict
70O-linkedHMM predict
73Phosphoserine(IKK)HMM predict
78Phosphoserine(IKK)HMM predict
79O-linkedHMM predict
80O-linkedHMM predict
82O-linkedHMM predict
85O-linkedHMM predict
85O-linkedHMM predict
90Phosphothreonine(MAPK)HMM predict
90Phosphothreonine(CDC2)HMM predict
90Phosphothreonine(CDK)HMM predict
90PhosphothreonineHMM predict
98N-linkedHMM predict
151N-linkedHMM predict
217N-linkedHMM predict
256N-linkedHMM predict
308N-linkedHMM predict
309N-linkedHMM predict
311N-linkedHMM predict
334Phosphotyrosine(INSR)HMM predict
334Phosphotyrosine(Jak)HMM predict
373N-linkedHMM predict
440N-linkedHMM predict
445O-linkedHMM predict
447O-linkedHMM predict
468N-linkedHMM predict
564N-linkedHMM predict
582Phosphothreonine(PKC)HMM predict
687N-linkedHMM predict
705O-linkedHMM predict
730N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019893
  • Location:chr10 51617078-51678318
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 51694202 51694233 31 15899
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF2 HepG2E 51664449 51664706 257 0
hScc1 BcellGSE12603 51629595 51630251 656 0
hScc1 BcellGSE12603 51654179 51654587 408 0
hScc1 CdLSGSE12603 51629595 51630180 585 0
hScc1 CdLSGSE12603 51654179 51654747 568 0
hScc1 G2GSE9613 51629595 51630286 691 0
hScc1 G2GSE9613 51654179 51654639 460 0
Validated miRNA targets Top
Cis-Nats regulation Top

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