Property Summary

NCBI Gene PubMed Count 12
PubMed Score 4.08
PubTator Score 5.86

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytic glioma -1.800 2.0e-02
ependymoma -1.100 1.9e-06
atypical teratoid / rhabdoid tumor -1.300 2.1e-04
glioblastoma -1.200 8.5e-04
hereditary spastic paraplegia -1.113 5.1e-03
pancreatic ductal adenocarcinoma liver m... -1.173 1.9e-02
adult high grade glioma -1.100 5.2e-04
Pick disease -1.200 1.0e-04
ovarian cancer 1.800 7.6e-07

 GO Function (1)

Gene RIF (4)

PMID Text
21607760 analysis of the combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19542079 A new cause of Leigh syndrome can be a defect in early complex I assembly due to C20orf7 mutations.
18940309 C20orf7 is crucial in the assembly of complex I and mutations in C20orf7 cause mitochondrial disease

AA Sequence

MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDY      1 - 70
LKEEVGSRIADRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLA     71 - 140
DEEFLPFKENTFDLVVSSLSLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREG    141 - 210
GFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTML    211 - 280
AAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ         281 - 345
//

Text Mined References (13)

PMID Year Title
27499296 2016 Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function.
27226634 2016 NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.
21607760 2012 Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19542079 2010 Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.
18940309 2008 Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.