AutismKB 2.0

Annotation Detail for PVALB


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Basic Information Top
Gene Symbol:PVALB ( D22S749,MGC116759 )
Gene Full Name: parvalbumin
Band: 22q12.3
Quick LinksEntrez ID:5816; OMIM: 168890; Uniprot ID:PRVA_HUMAN; ENSEMBL ID: ENSG00000100362; HGNC ID: 9704
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylserine.
79Phosphoserine (By similarity).
83Phosphothreonine (By similarity).
Location(AA) Modifications Resource
2N-acetylserine.Swiss-Prot 53.0
Location(AA) Modification Resource
98IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002854
  • Location:chr22 35526691-35545462
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 35554751 35555158 407 9492
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 35523761 35524995 1234 2314
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 35543751 35544292 541 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