AutismKB 2.0

Annotation Detail for CTSA


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Basic Information Top
Gene Symbol:CTSA ( GLB2,GSL,NGBE,PPCA,PPGB )
Gene Full Name: cathepsin A
Band: 20q13.12
Quick LinksEntrez ID:5476; OMIM: 613111; Uniprot ID:PPGB_HUMAN; ENSEMBL ID: ENSG00000064601; HGNC ID: 9251
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
145N-linked (GlcNAc...).
333N-linked (GlcNAc...).
Location(AA) Modifications Resource
145N-linked (GlcNAc...).Swiss-Prot 53.0
333N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
46Phosphoserine(PKC)HMM predict
142Phosphotyrosine(Syk)HMM predict
145N-linkedHMM predict
179Phosphotyrosine(INSR)HMM predict
196Phosphoserine(IKK)HMM predict
240S-palmitoylHMM predict
241S-palmitoylHMM predict
333N-linkedHMM predict
334O-linkedHMM predict
338O-linkedHMM predict
339O-linkedHMM predict
374Phosphotyrosine(INSR)HMM predict
387Phosphoserine(ATM)HMM predict
474PhenylalanineHMM predict
475PhenylalanineHMM predict
476PhenylalanineHMM predict
477PhenylalanineHMM predict
480TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000308
  • Location:chr20 43953612-43960862
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 43953350 43953812 462 32
hScc1 BcellGSE12603 43953105 43953878 773 121
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 43953959 43955482 1523 0
USF1 HepG2E 43952200 43955482 3282 0
USF1 HepG2E 43955831 43956298 467 0
USF1 HepG2E 43956612 43957321 709 0
USF1 HepG2E 43958784 43960758 1974 0
USF2 HepG2E 43953812 43955482 1670 0
USF2 HepG2E 43955831 43956298 467 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
16443 mRNA PPGB chr20 43953612 43960863 60 mRNA PLTP chr20 43960803 43974193Sense/Antisense (SA) pairs

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


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