AutismKB 2.0

Annotation Detail for MRPS30


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Basic Information Top
Gene Symbol:MRPS30 ( DKFZp566B2024,MRP-S30,PAP,PDCD9,S30mt )
Gene Full Name: mitochondrial ribosomal protein S30
Band: 5p12
Quick LinksEntrez ID:10884; OMIM: 611991; Uniprot ID:RT30_HUMAN; ENSEMBL ID: ENSG00000112996; HGNC ID: 8769
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
31O-linkedHMM predict
39Phosphothreonine(MAPK)HMM predict
52Phosphothreonine(PKC)HMM predict
219MethylarginineHMM predict
402Phosphotyrosine(INSR)HMM predict
428ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016640
  • Location:chr5 44844783-44851370
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44844461 44844847 386 130
CTCF CD4SISSRdata 44844461 44844847 386 130
Fos K562GSE19551 44844350 44845168 818 25
Oct1 HelaGSE14283 44833657 44833695 38 11108
TAF HelaGSE8489 44842559 44845310 2751 849
hScc1 CdLSGSE12603 44844566 44844910 344 46
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44844456 44845310 854 0
ETS1 JurkatGSE17954 44844239 44845404 1165 0
H3K4me3 colorectalcancer 44844637 44845497 860 0
P300 T30-glioblastomaGSE21026 44844243 44845352 1109 0
Rb QuiescentGSE19898 44844533 44845035 502 0
Rb SenescentGSE19898 44844538 44845476 938 0
TAF HelaGSE8489 44846273 44846631 358 0
TAF k562GSE8489 44844025 44845929 1904 0
p130 SenescentGSE19898 44844645 44844952 307 0
p130 shRbSenescentGSE19898 44844552 44845089 537 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