AutismKB 2.0

Annotation Detail for ACTN3


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Basic Information Top
Gene Symbol:ACTN3 ( MGC117002,MGC117005 )
Gene Full Name: actinin, alpha 3
Band: 11q13.2
Quick LinksEntrez ID:89; OMIM: 102574; Uniprot ID:ACTN3_HUMAN; ENSEMBL ID: ENSG00000248746; HGNC ID: 165
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
16MethylarginineHMM predict
26Phosphotyrosine(INSR)HMM predict
154Phosphoserine(CK2)HMM predict
168S-palmitoylHMM predict
293Phosphotyrosine(Syk)HMM predict
418Phosphoserine(PKG)HMM predict
432Phosphoserine(ATM)HMM predict
610Phosphoserine(CDC2)HMM predict
758Phosphoserine(ATM)HMM predict
791Phosphoserine(MAPK)HMM predict
806Phosphothreonine(PKC)HMM predict
834Phosphothreonine(CK2)HMM predict
851Phosphotyrosine(EGFR)HMM predict
851Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001104
  • Location:chr11 66070966-66087372
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 66083027 66083596 569 0
NRSF pAbJurkat 66072778 66073106 328 0
NRSF pAbJurkat 66083386 66084581 1195 0
NRSF pAbJurkat 66085236 66085714 478 0
Oct4 hESGSE17917 66070650 66071325 675 0
hScc1 BcellGSE12603 66072741 66073181 440 0
hScc1 BcellGSE12603 66074332 66074727 395 0
hScc1 BcellGSE12603 66083238 66084179 941 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