AutismKB 2.0

Annotation Detail for AARS


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Basic Information Top
Gene Symbol:AARS ( CMT2N )
Gene Full Name: alanyl-tRNA synthetase
Band: 16q22.1
Quick LinksEntrez ID:16; OMIM: 601065; Uniprot ID:SYAC_HUMAN; ENSEMBL ID: ENSG00000090861; HGNC ID: 20
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
19N6-acetyllysine.
555Phosphoserine.
578Phosphothreonine.
580Phosphotyrosine.
876N6-acetyllysine.
Location(AA) Modifications Resource
578Phosphothreonine.Swiss-Prot 53.0
578PhosphothreoninePhospho.ELM 6.0
580Phosphotyrosine.Swiss-Prot 53.0
580PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
8Phosphoserine(CAMK2)HMM predict
72Phosphothreonine(PKC)HMM predict
543Phosphotyrosine(INSR)HMM predict
543Phosphotyrosine(EGFR)HMM predict
554PhosphoserineHMM predict
554Phosphoserine(CK2)HMM predict
604N-linkedHMM predict
690Phosphotyrosine(EGFR)HMM predict
730N-linkedHMM predict
903S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001605
  • Location:chr16 68843797-68880912
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 68880250 68881795 1545 110
TAFII hESGSE17917 68880650 68881458 808 142
USF1 HepG2E 68880886 68881464 578 263
p130 QuiescentGSE19898 68881157 68881429 272 381
p130 shRbQuiescentGSE19898 68880243 68881652 1409 35
p130 shRbSenescentGSE19898 68881201 68881395 194 386
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
VDR GM10861-stimGSE22484 68842771 68844545 1774 140
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 68858964 68859255 291 0
CTCF CD4SISSRdata 68858964 68859255 291 0
CTCF G2GSE9613 68842525 68845921 3396 0
CTCF G2GSE9613 68858918 68859245 327 0
CTCF G2GSE9613 68859589 68859944 355 0
Fos K562GSE19551 68880502 68881280 778 0
H3ac HepG2E 68880286 68880656 370 0
Oct1 H2O2-HelaGSE14283 68853816 68853855 39 0
Oct1 H2O2-HelaGSE14283 68858188 68858223 35 0
Oct1 H2O2-HelaGSE14283 68861929 68861957 28 0
Oct1 HelaGSE14283 68853822 68853855 33 0
Oct1 HelaGSE14283 68858188 68858223 35 0
PHF8 293TGSE20725 68880223 68881107 884 0
PHF8 HeLaGSE20725 68879923 68881458 1535 0
PHF8 Hs68minusFBSGSE20725 68880367 68881058 691 0
PHF8 Hs68plusFBSGSE20725 68880089 68881459 1370 0
TAF HelaGSE8489 68847245 68847628 383 0
TAF HelaGSE8489 68873983 68874484 501 0
TAF HelaGSE8489 68874852 68875308 456 0
TAF HelaGSE8489 68880286 68880585 299 0
TAF k562GSE8489 68880286 68880522 236 0
hScc1 BcellGSE12603 68858918 68859245 327 0
hScc1 BcellGSE12603 68880585 68880920 335 0
p130 shRbSenescentGSE19898 68880441 68881179 738 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