AutismKB 2.0

Annotation Detail for ALDH18A1


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Basic Information Top
Gene Symbol:ALDH18A1 ( GSAS,MGC117316,P5CS,PYCS )
Gene Full Name: aldehyde dehydrogenase 18 family, member A1
Band: 10q24.1
Quick LinksEntrez ID:5832; OMIM: 138250; Uniprot ID:P5CS_HUMAN; ENSEMBL ID: ENSG00000059573; HGNC ID: 9722
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
56Phosphothreonine(CDK)HMM predict
134Phosphoserine(ATM)HMM predict
204N-linkedHMM predict
274Phosphoserine(CDC2)HMM predict
274Phosphoserine(IKK)HMM predict
329N-linkedHMM predict
427Phosphoserine(CK1)HMM predict
431Phosphoserine(CK1)HMM predict
431Phosphoserine(IKK)HMM predict
458Phosphothreonine(PKA)HMM predict
525Phosphoserine(CK1)HMM predict
657Phosphoserine(CDC2)HMM predict
668SulfotyrosineHMM predict
759Phosphothreonine(PKC)HMM predict
775Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001017423
  • Location:chr10 97355676-97406556
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb GrowingGSE19898 97406597 97406809 212 147
p130 shRbSenescentGSE19898 97406480 97407027 547 197
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 97350854 97351194 340 4653
CTCF CD4SISSRdata 97350854 97351194 340 4653
CTCF JurkatGSE12889 97350979 97351135 156 4620
USF2 HepG2E 97350932 97351308 376 4557
hScc1 BcellGSE12603 97350932 97351344 412 4539
hScc1 CdLSGSE12603 97350932 97351455 523 4483
hScc1 G2GSE9613 97350932 97351455 523 4483
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 97402959 97403230 271 0
H3ac HepG2E 97405108 97405792 684 0
RARA MCF7GSE15244 97367022 97367739 717 0
hScc1 BcellGSE12603 97406006 97406509 503 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


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