AutismKB 2.0

Annotation Detail for MRPL50


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Basic Information Top
Gene Symbol:MRPL50 ( FLJ20493,FLJ21990,MRP-L50 )
Gene Full Name: mitochondrial ribosomal protein L50
Band: 9q31.1
Quick LinksEntrez ID:54534; OMIM: 611854; Uniprot ID:RM50_HUMAN; ENSEMBL ID: ENSG00000136897; HGNC ID: 16654
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
155Phosphothreonine.
157Phosphoserine.
158Phosphotyrosine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
21Phosphothreonine(MAPK)HMM predict
60Phosphotyrosine(INSR)HMM predict
61Phosphothreonine(MAPK)HMM predict
61Phosphothreonine(CDK)HMM predict
61PhosphothreonineHMM predict
72Phosphoserine(PKB)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019051
  • Location:chr9 103192069-103200716
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 103200406 103201164 758 69
P300 T30-glioblastomaGSE21026 103200320 103201150 830 19
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 103189990 103190271 281 1939
CTCF CD4SISSRdata 103189990 103190271 281 1939
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 103199977 103201318 1341 0
FOXA1 MCF7GSE15244 103200162 103201129 967 0
H3K4me3 colorectalcancer 103199552 103200552 1000 0
H3ac HepG2E 103199726 103200806 1080 0
Oct1 HelaGSE14283 103194822 103194861 39 0
P300 T0-glioblastomaGSE21026 103200135 103201218 1083 0
TAF HelaGSE8489 103199516 103200806 1290 0
TAF k562GSE8489 103199516 103200765 1249 0
p130 shRbSenescentGSE19898 103200325 103201041 716 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