AutismKB 2.0

Annotation Detail for MRPL40


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Basic Information Top
Gene Symbol:MRPL40 ( FLJ41774,MGC9400,MRP-L22,NLVCF,URIM )
Gene Full Name: mitochondrial ribosomal protein L40
Band: 22q11.21
Quick LinksEntrez ID:64976; OMIM: 605089; Uniprot ID:RM40_HUMAN; ENSEMBL ID: ENSG00000185608; HGNC ID: 14491
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_003776
  • Location:chr22 17800035-17803593
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 17798972 17800361 1389 369
NFkBII GM15510GSE19485 17798676 17800601 1925 397
PHF8 HeLaGSE20725 17799100 17800590 1490 191
PHF8 Hs68plusFBSGSE20725 17798937 17800591 1654 272
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 17800120 17800430 310 0
H3ac HepG2E 17800747 17801261 514 0
TAF k562GSE8489 17800152 17800430 278 0
VDR GM10861-UnstimGSE22484 17798821 17801374 2553 0
p130 QuiescentGSE19898 17800061 17800377 316 0
p130 SenescentGSE19898 17800056 17800352 296 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