AutismKB 2.0

Annotation Detail for ADSSL1


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Basic Information Top
Gene Symbol:ADSSL1 ( FLJ38602 )
Gene Full Name: adenylosuccinate synthase like 1
Band: 14q32.33
Quick LinksEntrez ID:122622; OMIM: 612498; Uniprot ID:PURA1_HUMAN; ENSEMBL ID: ENSG00000185100; HGNC ID: 20093
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
388Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
19MethylarginineHMM predict
29Phosphothreonine(PKC)HMM predict
271O-linkedHMM predict
273Phosphoserine(IKK)HMM predict
274N-linkedHMM predict
276O-linkedHMM predict
429Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152328
  • Location:chr14 104261578-104284689
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 104261028 104261257 229 436
CTCF CD4SISSRdata 104261028 104261257 229 436
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 104261459 104261929 470 0
CTCF G2GSE9613 104263772 104264329 557 0
CTCF G2GSE9613 104264789 104264988 199 0
CTCF G2GSE9613 104266222 104266811 589 0
Myc K562GSE19551 104266506 104267113 607 0
TFAP2C MCF7GSE21234 104262106 104262977 871 0
hScc1 BcellGSE12603 104261459 104262080 621 0
hScc1 BcellGSE12603 104263284 104263798 514 0
hScc1 BcellGSE12603 104264066 104264486 420 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