AutismKB 2.0

Annotation Detail for AASDH


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AASDH ( ACSF4,LYS2,NRPS1098,NRPS998 )
Gene Full Name: aminoadipate-semialdehyde dehydrogenase
Band: 4q12
Quick LinksEntrez ID:132949; OMIM: NA; Uniprot ID:ACSF4_HUMAN; ENSEMBL ID: ENSG00000157426; HGNC ID: 23993
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
589O-(pantetheine 4'-phosphoryl)serine (By
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_181806
  • Location:chr4 56899215-56948394
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 56951160 56951214 54 2793
H3K4me3 colorectalcancer 56947762 56949700 1938 337
H3ac HepG2E 56948526 56949700 1174 719
Myc hESGSE17917 56948258 56948616 358 43
Oct1 H2O2-HelaGSE14283 56949873 56949916 43 1500
Oct1 HelaGSE14283 56951160 56951203 43 2787
PHF8 HeLaGSE20725 56947922 56948907 985 20
PHF8 Hs68plusFBSGSE20725 56947761 56949185 1424 79
PolII HeLaGSE12783 56947654 56949621 1967 243
TAF HelaGSE8489 56947762 56949700 1938 337
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 56884860 56885287 427 14142
Oct1 H2O2-HelaGSE14283 56883269 56883296 27 15933
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 56917329 56917552 223 0
CTCF G2GSE9613 56948047 56948306 259 0
ETS1 JurkatGSE17954 56947876 56948911 1035 0
H3ac HepG2E 56947762 56948270 508 0
Nanog ESGSE20650 56924035 56924176 141 0
Oct1 HelaGSE14283 56930483 56930529 46 0
P300 T30-glioblastomaGSE21026 56947739 56949032 1293 0
PHF8 293TGSE20725 56947888 56948833 945 0
PHF8 Hs68minusFBSGSE20725 56947699 56949077 1378 0
USF2 HepG2E 56921197 56921758 561 0
hScc1 BcellGSE12603 56948047 56948451 404 0
p130 shRbQuiescentGSE19898 56947718 56948902 1184 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