AutismKB 2.0

Annotation Detail for CTSZ


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Basic Information Top
Gene Symbol:CTSZ ( CTSX,FLJ17088 )
Gene Full Name: cathepsin Z
Band: 20q13.32
Quick LinksEntrez ID:1522; OMIM: 603169; Uniprot ID:CATZ_HUMAN; ENSEMBL ID: ENSG00000101160; HGNC ID: 2547
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
184N-linked (GlcNAc...).
224N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
184N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
224N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
56Phosphotyrosine(INSR)HMM predict
56Phosphotyrosine(Syk)HMM predict
97O-linkedHMM predict
184N-linkedHMM predict
224N-linkedHMM predict
230SulfotyrosineHMM predict
238Phosphotyrosine(EGFR)HMM predict
238Phosphotyrosine(INSR)HMM predict
278Phosphoserine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001336
  • Location:chr20 57003635-57015679
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 57018841 57020304 1463 3893
P300 T30-glioblastomaGSE21026 57018681 57020327 1646 3825
VDR GM10861-stimGSE22484 57015746 57017071 1325 729
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 57015367 57015764 397 0
H3ac HepG2E 57010658 57011613 955 0
NFkBII GM12878GSE19485 57012493 57014787 2294 0
NFkBII GM15510GSE19485 57012621 57014478 1857 0
NFkBII GM18526GSE19485 57012601 57014853 2252 0
TFAP2C MCF7GSE21234 57007770 57008355 585 0
VDR GM10855-stimGSE22484 57010656 57017181 6525 0
VDR GM10861-stimGSE22484 57010287 57015678 5391 0
hScc1 BcellGSE12603 57009839 57010871 1032 0
hScc1 BcellGSE12603 57011475 57011814 339 0
hScc1 BcellGSE12603 57015115 57015880 765 0
hScc1 CdLSGSE12603 57013149 57013568 419 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