AutismKB 2.0

Annotation Detail for ALDH5A1


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Basic Information Top
Gene Symbol:ALDH5A1 ( SSADH,SSDH )
Gene Full Name: aldehyde dehydrogenase 5 family, member A1
Band: 6p22.3
Quick LinksEntrez ID:7915; OMIM: 610045; Uniprot ID:SSDH_HUMAN; ENSEMBL ID: ENSG00000112294; HGNC ID: 408
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126N6-acetyllysine.
358N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
35O-linkedHMM predict
35O-linkedHMM predict
233Phosphothreonine(MAPK)HMM predict
254Phosphotyrosine(SRC)HMM predict
285O-linkedHMM predict
286O-linkedHMM predict
427N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001080
  • Location:chr6 24603175-24645412
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 24646297 24646330 33 901
ER Fulvestrant-MCF7GSE14664 24646294 24646330 36 900
Oct1 HelaGSE14283 24646297 24646330 33 901
Oct1 HelaGSE14283 24646725 24646884 159 1392
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24629205 24629454 249 0
CTCF CD4SISSRdata 24629205 24629454 249 0
CTCF HelaGSE12889 24629191 24629464 273 0
CTCF G2GSE9613 24602617 24603817 1200 0
CTCF G2GSE9613 24626176 24626574 398 0
CTCF G2GSE9613 24629132 24629416 284 0
CTCF G2GSE9613 24632513 24633289 776 0
CTCF G2GSE9613 24642117 24642400 283 0
H3ac HepG2E 24603671 24604265 594 0
Oct1 H2O2-HelaGSE14283 24610358 24610390 32 0
Oct1 HelaGSE14283 24621668 24621700 32 0
RARA MCF7GSE15244 24612885 24613465 580 0
RNAII Tamoxifen-MCF7GSE14664 24610358 24610398 40 0
Sox2 hESGSE18292 24633114 24633485 371 0
hScc1 BcellGSE12603 24602988 24603743 755 0
hScc1 BcellGSE12603 24629279 24629416 137 0
hScc1 BcellGSE12603 24632513 24632910 397 0
hScc1 CdLSGSE12603 24632946 24633576 630 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