AutismKB 2.0

Annotation Detail for ADSL


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Basic Information Top
Gene Symbol:ADSL ( AMPS,ASASE,ASL )
Gene Full Name: adenylosuccinate lyase
Band: 22q13.1
Quick LinksEntrez ID:158; OMIM: 608222; Uniprot ID:PUR8_HUMAN; ENSEMBL ID: ENSG00000100354,ENSG00000239900; HGNC ID: 291
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
9Phosphoserine.
147N6-acetyllysine.
295N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
15Phosphoserine(CDC2)HMM predict
23Phosphoserine(CDK)HMM predict
199O-linkedHMM predict
201O-linkedHMM predict
202O-linkedHMM predict
305S-palmitoylHMM predict
313Phosphothreonine(PKA)HMM predict
438Phosphoserine(ATM)HMM predict
454Phosphoserine(PKG)HMM predict
466Phosphotyrosine(SRC)HMM predict
476MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000026
  • Location:chr22 39072508-39092696
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 39071657 39073209 1552 76
PHF8 293TGSE20725 39071626 39073256 1630 68
PHF8 HeLaGSE20725 39071697 39073229 1532 46
hScc1 BcellGSE12603 39072002 39072951 949 32
p130 QuiescentGSE19898 39071888 39072117 229 506
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39074115 39074322 207 0
CTCF CD4SISSRdata 39074115 39074322 207 0
CTCF G2GSE9613 39074055 39074240 185 0
H3K4me2 HCT116GSE10453 39073188 39073825 637 0
H3ac HepG2E 39072002 39074240 2238 0
KLF4 hESGSE17917 39074162 39074333 171 0
NRSF JurkatSISSRdata 39072460 39072627 167 0
PHF8 Hs68plusFBSGSE20725 39071771 39073258 1487 0
TFAP2C MCF7GSE21234 39074078 39074313 235 0
USF1 HepG2E 39072951 39074202 1251 0
hScc1 BcellGSE12603 39074024 39074240 216 0
hScc1 CdLSGSE12603 39073541 39074240 699 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