AutismKB 2.0

Annotation Detail for RARS2


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Basic Information Top
Gene Symbol:RARS2 ( ArgRS,DALRD2,MGC14993,MGC23778,PCH6,PRO1992,RARSL,dJ382I10.6 )
Gene Full Name: arginyl-tRNA synthetase 2, mitochondrial
Band: 6q15
Quick LinksEntrez ID:57038; OMIM: 611524; Uniprot ID:SYRM_HUMAN; ENSEMBL ID: ENSG00000146282; HGNC ID: 21406
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
144"HIGH" region.
Location(AA) Modifications Resource
Location(AA) Modification Resource
34Phosphoserine(ATM)HMM predict
248Phosphoserine(PKG)HMM predict
266Phosphotyrosine(INSR)HMM predict
266Phosphotyrosine(Syk)HMM predict
272Phosphotyrosine(EGFR)HMM predict
309Phosphoserine(IKK)HMM predict
413Phosphothreonine(CK2)HMM predict
413Phosphothreonine(PKC)HMM predict
472Phosphoserine(IKK)HMM predict
472Phosphoserine(CK1)HMM predict
527Phosphothreonine(PKC)HMM predict
544Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020320
  • Location:chr6 88280821-88356439
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 88356111 88356781 670 7
LIN9 G0GSE7516 88355814 88357186 1372 61
Rb SenescentGSE19898 88356035 88356897 862 27
p130 shRbQuiescentGSE19898 88356000 88356993 993 57
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 88340466 88340498 32 0
ER MCF7GSE19013 88340539 88341016 477 0
GABP k562GSE8489 88355430 88356519 1089 0
H3K4me3 colorectalcancer 88355430 88356340 910 0
H3ac HepG2E 88355430 88356407 977 0
Myc K562GSE19551 88318179 88318541 362 0
Oct1 HelaGSE14283 88325250 88325286 36 0
Oct1 HelaGSE14283 88351544 88351642 98 0
Oct1 HelaGSE14283 88355344 88355375 31 0
TAF HelaGSE8489 88355430 88356340 910 0
TAF k562GSE8489 88355430 88356407 977 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