AutismKB 2.0

Annotation Detail for ASZ1


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Basic Information Top
Gene Symbol:ASZ1 ( ALP1,ANKL1,C7orf7,CT1.19,GASZ,MGC26634,Orf3 )
Gene Full Name: ankyrin repeat, SAM and basic leucine zipper domain containing 1
Band: 7q31.2
Quick LinksEntrez ID:136991; OMIM: 605797; Uniprot ID:ASZ1_HUMAN; ENSEMBL ID: ENSG00000154438; HGNC ID: 1350
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
18Phosphoserine(CK2)HMM predict
20Phosphoserine(CK1)HMM predict
104N-linkedHMM predict
151Phosphothreonine(PKA)HMM predict
177Phosphothreonine(CK2)HMM predict
183Phosphotyrosine(Syk)HMM predict
212Phosphothreonine(CK2)HMM predict
301Phosphothreonine(PKC)HMM predict
397N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_130768
  • Location:chr7 116790511-116854778
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 116862193 116863783 1590 8210
Oct1 H2O2-HelaGSE14283 116861955 116861982 27 7190
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 116774467 116776164 1697 15196
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 116813116 116813373 257 0
Oct1 HelaGSE14283 116833422 116833468 46 0
hScc1 BcellGSE12603 116827193 116828016 823 0
hScc1 CdLSGSE12603 116812857 116813477 620 0
hScc1 CdLSGSE12603 116827193 116827552 359 0
hScc1 G2GSE9613 116827193 116828016 823 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