AutismKB 2.0

Annotation Detail for DST


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Basic Information Top
Gene Symbol:DST ( BP240,BPA,BPAG1,CATX-15,CATX15,D6S1101,DKFZp564B2416,DMH,DT,FLJ46791,KIAA0465,KIAA1470,MACF2 )
Gene Full Name: dystonin
Band: 6p12.1
Quick LinksEntrez ID:667; OMIM: 113810; Uniprot ID:DYST_HUMAN; ENSEMBL ID: ENSG00000151914; HGNC ID: 1090
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
40Phosphothreonine.
42Phosphothreonine.
1324Phosphoserine.
1389Nuclear localization signal; in isoform 6
3970Phosphoserine.
5461Phosphothreonine.
6764Phosphothreonine.
7364Phosphoserine (By similarity).
7432Phosphoserine.
7440Phosphothreonine.
7510Phosphoserine.
7513Phosphoserine.
7553Microtubule tip localization signal.
7562Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001723
  • Location:chr6 56587355-56615646
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 56610440 56610578 138 0
CTCF CD4SISSRdata 56610440 56610578 138 0
CTCF G2GSE9613 56610376 56610633 257 0
Nanog hESGSE18292 56610393 56610686 293 0
Oct1 HelaGSE14283 56615074 56615100 26 0
Rb QuiescentGSE19898 56610373 56610737 364 0
Rb SenescentGSE19898 56610463 56610668 205 0
Rb shRbSenescenceGSE19898 56610485 56610634 149 0
Sox2 hESGSE18292 56610443 56610692 249 0
TFAP2C MCF7GSE21234 56600983 56601210 227 0
USF1 HepG2E 56614370 56614720 350 0
p130 QuiescentGSE19898 56610499 56610720 221 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-146a hsa-mir-146a 5 20417706
hsa-miR-146a* hsa-mir-146a 5 20417706
No data
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