AutismKB 2.0

Annotation Detail for ADAMTSL1


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Basic Information Top
Gene Symbol:ADAMTSL1 ( ADAMTSL-1,ADAMTSR1,C9orf94,DKFZp686L03130,FLJ35283,FLJ41032,FLJ46891,MGC118803,MGC118805,MGC40193,PUNCTIN )
Gene Full Name: ADAMTS-like 1
Band: 9p22.2-p22.1
Quick LinksEntrez ID:92949; OMIM: 609198; Uniprot ID:ATL1_HUMAN; ENSEMBL ID: ENSG00000178031; HGNC ID: 14632
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
251N-linked (GlcNAc...) (Potential).
1084N-linked (GlcNAc...) (Potential).
1342N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
251N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphothreonine(PKA)HMM predict
36C-linkedHMM predict
39C-linkedHMM predict
42C-linkedHMM predict
194Phosphoserine(ATM)HMM predict
236O-linkedHMM predict
240Phosphoserine(IKK)HMM predict
242Phosphoserine(CK1)HMM predict
365Phosphotyrosine(Syk)HMM predict
402Phosphoserine(PKG)HMM predict
402Phosphoserine(IKK)HMM predict
402Phosphoserine(PKB)HMM predict
445C-linkedHMM predict
446Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040272
  • Location:chr9 18816145-18900944
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 18814155 18814556 401 1790
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 18842115 18842145 30 0
hScc1 BcellGSE12603 18835185 18835546 361 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