AutismKB 2.0

Annotation Detail for EPRS


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPRS ( DKFZp313B047,EARS,GLUPRORS,PARS,QARS,QPRS )
Gene Full Name: glutamyl-prolyl-tRNA synthetase
Band: 1q41
Quick LinksEntrez ID:2058; OMIM: 138295; Uniprot ID:SYEP_HUMAN; ENSEMBL ID: ENSG00000136628; HGNC ID: 3418
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
214"HIGH" region.
300N6-acetyllysine.
417N6-acetyllysine.
436"KMSKS" region.
498N6-acetyllysine.
535N6-acetyllysine.
542N6-acetyllysine.
637N6-acetyllysine.
788N6-acetyllysine.
872Phosphotyrosine.
880Phosphoserine.
882Phosphoserine.
883Phosphoserine.
885Phosphoserine.
886Phosphoserine.
888Phosphothreonine.
891Phosphoserine.
898Phosphothreonine.
999Phosphoserine.
1000Phosphoserine.
1156N6-acetyllysine.
1503N6-acetyllysine.
Location(AA) Modifications Resource
826Phosphothreonine.Swiss-Prot 53.0
826PhosphothreoninePhospho.ELM 6.0
928Phosphoserine.Swiss-Prot 53.0
928PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
22Phosphoserine(IKK)HMM predict
127Phosphothreonine(PKC)HMM predict
357N-linkedHMM predict
358N-linkedHMM predict
411Phosphoserine(IKK)HMM predict
503N-linkedHMM predict
529Phosphotyrosine(Syk)HMM predict
612Phosphotyrosine(Syk)HMM predict
616Phosphoserine(CDK)HMM predict
654N-linkedHMM predict
665Phosphothreonine(PKA)HMM predict
671N-linkedHMM predict
755Phosphotyrosine(Syk)HMM predict
787Phosphoserine(MAPK)HMM predict
800Phosphotyrosine(INSR)HMM predict
800Phosphotyrosine(Jak)HMM predict
808Phosphoserine(ATM)HMM predict
808O-linkedHMM predict
810Phosphoserine(IKK)HMM predict
811O-linkedHMM predict
813Phosphoserine(CK1)HMM predict
814Phosphoserine(CDC2)HMM predict
814Phosphoserine(IKK)HMM predict
814Phosphoserine(CDK)HMM predict
816O-linkedHMM predict
826Phosphothreonine(MAPK)HMM predict
848Phosphothreonine(PKC)HMM predict
898N-linkedHMM predict
904N-linkedHMM predict
961Phosphothreonine(CK2)HMM predict
1125Phosphotyrosine(Syk)HMM predict
1139Phosphothreonine(PKC)HMM predict
1244Phosphoserine(CK2)HMM predict
1314Phosphothreonine(PKC)HMM predict
1314Phosphothreonine(PKA)HMM predict
1345Phosphoserine(CK2)HMM predict
1425S-farnesylHMM predict
1427LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004446
  • Location:chr1 218208566-218286622
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 218286546 218286801 255 51
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
STAT1 HeLaGSE12783 218206859 218207882 1023 1196
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 218286333 218286813 480 0
CTCF CD4SISSRdata 218286333 218286813 480 0
CTCF G2GSE9613 218286050 218286705 655 0
ETS1 JurkatGSE17954 218285941 218287135 1194 0
GABP k562GSE8489 218285488 218285775 287 0
H3K4me3 colorectalcancer 218285488 218286186 698 0
H3ac HepG2E 218285488 218286223 735 0
PHF8 293TGSE20725 218285877 218287047 1170 0
TAF k562GSE8489 218284885 218285139 254 0
TAF k562GSE8489 218285488 218286939 1451 0
hScc1 BcellGSE12603 218286186 218286741 555 0
hScc1 CdLSGSE12603 218286301 218286834 533 0
p130 shRbQuiescentGSE19898 218285970 218286492 522 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


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