AutismKB 2.0

Annotation Detail for PCSK9


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Basic Information Top
Gene Symbol:PCSK9 ( FH3,HCHOLA3,LDLCQ1,NARC-1,NARC1,PC9 )
Gene Full Name: proprotein convertase subtilisin/kexin type 9
Band: 1p32.3
Quick LinksEntrez ID:255738; OMIM: 607786; Uniprot ID:PCSK9_HUMAN; ENSEMBL ID: ENSG00000169174; HGNC ID: 20001
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
47Phosphoserine.
533N-linked (GlcNAc...).
688Phosphoserine.
Location(AA) Modifications Resource
47Phosphoserine.Swiss-Prot 53.0
533N-linked (GlcNAc...).Swiss-Prot 53.0
688Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
38SulfotyrosineHMM predict
38Phosphotyrosine(INSR)HMM predict
38Phosphotyrosine(EGFR)HMM predict
89Phosphoserine(ATM)HMM predict
142SulfotyrosineHMM predict
171Phosphotyrosine(Syk)HMM predict
221Phosphoserine(IKK)HMM predict
221Phosphoserine(PKB)HMM predict
383Phosphoserine(IKK)HMM predict
386Phosphoserine(ATM)HMM predict
468O-linkedHMM predict
595Phosphoserine(PKB)HMM predict
662Phosphoserine(IKK)HMM predict
662O-linkedHMM predict
667O-linkedHMM predict
668O-linkedHMM predict
668O-linkedHMM predict
678S-palmitoylHMM predict
679S-palmitoylHMM predict
682ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_174936
  • Location:chr1 55277807-55303110
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 55271501 55271730 229 6192
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 55309831 55310141 310 6876
CTCF G2GSE9613 55308463 55308831 368 5537
CTCF G2GSE9613 55309577 55310371 794 6864
Oct1 H2O2-HelaGSE14283 55310267 55310296 29 7171
Oct1 HelaGSE14283 55310264 55310326 62 7185
RNAII Tamoxifen-MCF7GSE14664 55305171 55305261 90 2106
hScc1 G2GSE9613 55309542 55310371 829 6846
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55277747 55278869 1122 0
CTCF G2GSE9613 55286685 55286889 204 0
CTCF G2GSE9613 55292679 55292959 280 0
CTCF G2GSE9613 55299727 55300052 325 0
CTCF G2GSE9613 55302032 55302505 473 0
ER E2-MCF7GSE14664 55288726 55288758 32 0
H3ac HepG2E 55278513 55279635 1122 0
Oct1 H2O2-HelaGSE14283 55280441 55280477 36 0
Oct1 HelaGSE14283 55280441 55280475 34 0
RARA MCF7GSE15244 55279130 55279635 505 0
TFAP2C MCF7GSE21234 55279068 55279773 705 0
hScc1 BcellGSE12603 55299804 55300469 665 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