AutismKB 2.0

Annotation Detail for MRPL54


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Basic Information Top
Gene Symbol:MRPL54 ( L54mt,MRP-L54 )
Gene Full Name: mitochondrial ribosomal protein L54
Band: 19p13.3
Quick LinksEntrez ID:116541; OMIM: 611858; Uniprot ID:RM54_HUMAN; ENSEMBL ID: ENSG00000183617; HGNC ID: 16685
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172251
  • Location:chr19 3713671-3718554
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 3712054 3714573 2519 358
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 3718968 3719268 300 564
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 HypoHepG2 3713680 3714343 663 0
HIF1 NormHepG2 3713643 3714414 771 0
PHF8 293TGSE20725 3713235 3714469 1234 0
PHF8 HeLaGSE20725 3713389 3714578 1189 0
PHF8 Hs68minusFBSGSE20725 3713561 3714347 786 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