AutismKB 2.0

Annotation Detail for PCSK1N


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Basic Information Top
Gene Symbol:PCSK1N ( PROSAAS,SAAS )
Gene Full Name: proprotein convertase subtilisin/kexin type 1 inhibitor
Band: Xp11.23
Quick LinksEntrez ID:27344; OMIM: 300399; Uniprot ID:PCSK1_HUMAN; ENSEMBL ID: ENSG00000102109; HGNC ID: 17301
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
53O-linked (GalNAc...).
244Sufficient for inhibition of PCSK1.
247O-linked (GalNAc...).
Location(AA) Modifications Resource
Location(AA) Modification Resource
44Phosphoserine(IKK)HMM predict
65MethylarginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013271
  • Location:chrX 48574449-48578903
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48590976 48591185 209 12177
Oct1 HelaGSE14283 48579860 48579929 69 991
Oct1 HelaGSE14283 48580041 48580077 36 1156
hScc1 BcellGSE12603 48578591 48579219 628 2
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48574440 48575789 1349 0
CTCF G2GSE9613 48577629 48579190 1561 0
hScc1 BcellGSE12603 48574791 48575719 928 0
hScc1 G2GSE9613 48574996 48575756 760 0
hScc1 G2GSE9613 48577629 48579059 1430 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