AutismKB 2.0

Annotation Detail for IARS2


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Basic Information Top
Gene Symbol:IARS2 ( FLJ10326,ILERS )
Gene Full Name: isoleucyl-tRNA synthetase 2, mitochondrial
Band: 1q41
Quick LinksEntrez ID:55699; OMIM: 612801; Uniprot ID:SYIM_HUMAN; ENSEMBL ID: ENSG00000067704; HGNC ID: 29685
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126"HIGH" region (By similarity).
186Phosphoserine.
189N6-acetyllysine.
233N6-acetyllysine.
241N6-acetyllysine.
668"KMSKS" region (By similarity).
775N6-acetyllysine.
781N6-acetyllysine.
Location(AA) Modifications Resource
186Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
17Phosphothreonine(PKC)HMM predict
30Phosphoserine(ATM)HMM predict
30Phosphoserine(MAPK)HMM predict
60Phosphotyrosine(EGFR)HMM predict
117Phosphotyrosine(INSR)HMM predict
143N-linkedHMM predict
186PhosphoserineHMM predict
228Phosphotyrosine(Syk)HMM predict
246Phosphoserine(CDC2)HMM predict
246Phosphoserine(IKK)HMM predict
248O-linkedHMM predict
270Phosphotyrosine(EGFR)HMM predict
318Phosphotyrosine(Syk)HMM predict
318Phosphotyrosine(SRC)HMM predict
330Phosphotyrosine(INSR)HMM predict
346O-linkedHMM predict
347O-linkedHMM predict
361N-linkedHMM predict
374Phosphoserine(IKK)HMM predict
402Phosphotyrosine(INSR)HMM predict
484N-linkedHMM predict
543Phosphotyrosine(Jak)HMM predict
590Phosphotyrosine(Jak)HMM predict
729Phosphothreonine(PKA)HMM predict
729Phosphothreonine(PKC)HMM predict
818Phosphoserine(PKA)HMM predict
925Phosphoserine(IKK)HMM predict
925Phosphoserine(CK1)HMM predict
926Phosphoserine(CK1)HMM predict
975Phosphotyrosine(SRC)HMM predict
990S-palmitoylHMM predict
1005CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018060
  • Location:chr1 218334077-218387998
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF k562GSE8489 218332994 218333303 309 929
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 218353194 218353398 204 0
CTCF CD4SISSRdata 218353194 218353398 204 0
CTCF G2GSE9613 218333899 218334462 563 0
Fos K562GSE19551 218358907 218359478 571 0
H3ac HepG2E 218334599 218334781 182 0
H3ac HepG2E 218335679 218336128 449 0
H3ac HepG2E 218384003 218384472 469 0
PHF8 293TGSE20725 218333628 218334734 1106 0
PHF8 HeLaGSE20725 218333921 218334936 1015 0
PHF8 Hs68plusFBSGSE20725 218333591 218334858 1267 0
hScc1 BcellGSE12603 218333899 218334462 563 0
p130 SenescentGSE19898 218334488 218334898 410 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