AutismKB 2.0

Annotation Detail for NDUFB7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NDUFB7 ( B18,CI-B18,MGC2480 )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa
Band: 19p13.12
Quick LinksEntrez ID:4713; OMIM: 603842; Uniprot ID:NDUB7_HUMAN; ENSEMBL ID: ENSG00000099795; HGNC ID: 7702
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
69C-X9-C motif 1.
90C-X9-C motif 2.
Location(AA) Modifications Resource
2N-myristoyl glycine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
29SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004146
  • Location:chr19 14537891-14543885
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 14543404 14544427 1023 30
NFkBII GM18526GSE19485 14543411 14544507 1096 74
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 14543121 14544398 1277 0
PHF8 Hs68minusFBSGSE20725 14543425 14544236 811 0
hScc1 BcellGSE12603 14538681 14539090 409 0
hScc1 BcellGSE12603 14539541 14539834 293 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