AutismKB 2.0

Annotation Detail for MFN1


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Basic Information Top
Gene Symbol:MFN1 ( DKFZp762F247,FLJ20693,MGC41806,hfzo1,hfzo2 )
Gene Full Name: mitofusin 1
Band: 3q26.33
Quick LinksEntrez ID:55669; OMIM: 608506; Uniprot ID:MFN1_HUMAN; ENSEMBL ID: ENSG00000171109; HGNC ID: 18262
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
50Phosphothreonine(CK2)HMM predict
50Phosphothreonine(PKC)HMM predict
86Phosphoserine(PKB)HMM predict
86Phosphoserine(IKK)HMM predict
90Phosphoserine(PKG)HMM predict
124Phosphotyrosine(Syk)HMM predict
228Phosphoserine(CK1)HMM predict
248Phosphotyrosine(INSR)HMM predict
248Phosphotyrosine(SRC)HMM predict
329Phosphoserine(CK1)HMM predict
368Phosphotyrosine(Jak)HMM predict
561O-linkedHMM predict
562O-linkedHMM predict
564O-linkedHMM predict
567O-linkedHMM predict
568O-linkedHMM predict
571O-linkedHMM predict
571Phosphothreonine(MAPK)HMM predict
574N-linkedHMM predict
593O-linkedHMM predict
728N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033540
  • Location:chr3 180548173-180593699
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 180547617 180548480 863 125
PHF8 293TGSE20725 180547708 180548619 911 10
p130 SenescentGSE19898 180547853 180548236 383 129
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 180547969 180548547 578 0
H3ac HepG2E 180548675 180549388 713 0
Oct4 hESGSE17917 180547992 180548381 389 0
P300 T0-glioblastomaGSE21026 180547845 180548762 917 0
P300 T30-glioblastomaGSE21026 180547875 180548743 868 0
PHF8 HeLaGSE20725 180547725 180548807 1082 0
TAFII hESGSE17917 180547936 180548532 596 0
p130 shRbQuiescentGSE19898 180547830 180548628 798 0
p130 shRbSenescentGSE19898 180548191 180548469 278 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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