AutismKB 2.0

Annotation Detail for PLVAP


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Basic Information Top
Gene Symbol:PLVAP ( FELS,PV-1,PV1,gp68 )
Gene Full Name: plasmalemma vesicle associated protein
Band: 19p13.11
Quick LinksEntrez ID:83483; OMIM: 607647; Uniprot ID:PLVAP_HUMAN; ENSEMBL ID: ENSG00000130300; HGNC ID: 13635
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
83N-linked (GlcNAc...) (Potential).
89N-linked (GlcNAc...) (Potential).
113N-linked (GlcNAc...) (Potential).
151N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
83N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
89N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
113N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
151N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
83N-linkedHMM predict
89N-linkedHMM predict
113N-linkedHMM predict
115Phosphoserine(PKC)HMM predict
318Phosphoserine(ATM)HMM predict
428Phosphoserine(ATM)HMM predict
436ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_031310
  • Location:chr19 17323263-17349136
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17357789 17358084 295 8800
CTCF CD4SISSRdata 17357789 17358084 295 8800
CTCF JurkatGSE12889 17357746 17358128 382 8801
CTCF G2GSE9613 17357632 17358178 546 8769
hScc1 BcellGSE12603 17357632 17358178 546 8769
hScc1 CdLSGSE12603 17357632 17358178 546 8769
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 17334086 17334804 718 0
Oct1 H2O2-HelaGSE14283 17344759 17344792 33 0
Oct1 H2O2-HelaGSE14283 17344830 17344879 49 0
Oct1 HelaGSE14283 17344829 17344895 66 0
TAF k562GSE8489 17334086 17334843 757 0
hScc1 BcellGSE12603 17348721 17349095 374 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