AutismKB 2.0

Annotation Detail for PRF1


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Basic Information Top
Gene Symbol:PRF1 ( FLH2,HPLH2,MGC65093,P1,PFN1,PFP )
Gene Full Name: perforin 1 (pore forming protein)
Band: 10q22.1
Quick LinksEntrez ID:5551; OMIM: 170280; Uniprot ID:PERF_HUMAN; ENSEMBL ID: ENSG00000180644; HGNC ID: 9360
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
205N-linked (GlcNAc...).
549N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
205N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
549N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
112O-linkedHMM predict
112Phosphoserine(PKG)HMM predict
136Phosphothreonine(MAPK)HMM predict
136Phosphothreonine(CDC2)HMM predict
152Phosphoserine(IKK)HMM predict
152Phosphoserine(ATM)HMM predict
205N-linkedHMM predict
234Phosphoserine(PKG)HMM predict
289Phosphothreonine(PKA)HMM predict
335Phosphoserine(CDC2)HMM predict
365Phosphoserine(PKA)HMM predict
388Phosphoserine(IKK)HMM predict
503Phosphoserine(CDK)HMM predict
549N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005041
  • Location:chr10 72027110-72032519
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 72045319 72045347 28 12814
Stat6 IL-4-hr4GSE17850 72032802 72033347 545 555
hScc1 CdLSGSE12603 72048798 72049348 550 16554
hScc1 G2GSE9613 72048798 72049348 550 16554
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 72017091 72017122 31 10004
SRF k562GSE8489 72021733 72022203 470 5143
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 72032159 72032662 503 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