AutismKB 2.0

Annotation Detail for NDUFA5


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Basic Information Top
Gene Symbol:NDUFA5 ( B13,CI-13KD-B,CI-13kB,DKFZp781K1356,FLJ12147,NUFM,UQOR13 )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
Band: 7q31.32
Quick LinksEntrez ID:4698; OMIM: 601677; Uniprot ID:NDUA5_HUMAN; ENSEMBL ID: ENSG00000128609; HGNC ID: 7688
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine (By similarity).
30N6-acetyllysine.
46N6-acetyllysine (By similarity).
60N6-acetyllysine.
98N6-acetyllysine (By similarity).
Location(AA) Modifications Resource
2N-acetylalanine (By similarity).Swiss-Prot 53.0
46N6-acetyllysine (By similarity).Swiss-Prot 53.0
98N6-acetyllysine (By similarity).Swiss-Prot 53.0
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005000
  • Location:chr7 122968319-122985193
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 123002509 123002721 212 17422
TAFII hESGSE17917 122985014 122985528 514 78
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 122965319 122965907 588 2707
Oct1 HelaGSE14283 122966679 122966720 41 1620
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 122984423 122985597 1174 0
H3K4me2 HCT116GSE10453 122983254 122985662 2408 0
H3K4me3 colorectalcancer 122983448 122985733 2285 0
H3ac HepG2E 122983625 122985566 1941 0
NRSF mAbJurkat 122982685 122985425 2740 0
NRSF pAbJurkat 122983590 122984123 533 0
P300 T30-glioblastomaGSE21026 122984286 122985812 1526 0
PHF8 293TGSE20725 122984353 122985747 1394 0
PHF8 HeLaGSE20725 122984479 122985760 1281 0
RARA MCF7GSE15244 122983793 122985566 1773 0
TAF HelaGSE8489 122982437 122985769 3332 0
TAF k562GSE8489 122982473 122986179 3706 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