Human Gene Module / Chromosome 7 / NDUFA5

NDUFA5NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
1 / 3
Rare Variants / Common Variants
0 / 2
Aliases
NDUFA5, B13,  CI-13KD-B,  CI-13kB,  DKFZp781K1356,  FLJ12147,  NUFM,  UQOR13
Associated Syndromes
-
Chromosome Band
7q31.32
Associated Disorders
-
Relevance to Autism

Genetic association has been found between the NDUFA5 gene and autism in a Japanese population cohort (Marui et al., 2011).

Molecular Function

The encoded protein is the B13 subunit of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
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SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to NDUFA5 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Recent Recommendation Defining the human deubiquitinating enzyme interaction landscape Sowa ME , et al. (2009) No -
2 Primary The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism Marui T , et al. (2010) Yes -
3 Highly Cited A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13 Pata I , et al. (1997) No -
Rare Variants  

No rare variants reported.

Common Variants   (2)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.22-1334A>T;c.67-1334A>T;c.58-1334A>T;c.66+5484A>T;c.265-1334A>T;c.97-1334A>T T/A intron_variant - - - 20825370 Marui T , et al. (2010)
c.139-127T>A;c.184-127T>A;c.175-127T>A;c.67-127T>A;c.382-127T>A;c.214-127T>A T to A intron_variant - - - 20825370 Marui T , et al. (2010)
SFARI Gene score
2

Strong Candidate

In a study involving 235 cases and 214 controls, 3 SNPs were found in the NDUFA5 gene. In that same study, a TDT involving 148 autism trios found two SNPs with significant association (PMID 20825370).

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
3
icon
2

Decreased from 3 to 2

Description

In a study involving 235 cases and 214 controls, 3 SNPs were found in the NDUFA5 gene. In that same study, a TDT involving 148 autism trios found two SNPs with significant association (PMID 20825370).

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

In a study involving 235 cases and 214 controls, 3 SNPs were found in the NDUFA5 gene. In that same study, a TDT involving 148 autism trios found two SNPs with significant association (PMID 20825370).

Reports Added
[New Scoring Scheme]
7/1/2014
No data
icon
4

Increased from No data to 4

Description

In a study involving 235 cases and 214 controls, 3 SNPs were found in the NDUFA5 gene. In that same study, a TDT involving 148 autism trios found two SNPs with significant association (PMID 20825370).

4/1/2014
No data
icon
4

Increased from No data to 4

Description

In a study involving 235 cases and 214 controls, 3 SNPs were found in the NDUFA5 gene. In that same study, a TDT involving 148 autism trios found two SNPs with significant association (PMID 20825370).

Krishnan Probability Score

Score 0.44478535272633

Ranking 15741/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.17396305332775

Ranking 7204/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.88433324065105

Ranking 5114/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Larsen Cumulative Evidence Score

Score 2

Ranking 398/461 scored genes


[Show Scoring Methodology]
Larsen and colleagues generated gene scores based on the sum of evidence for all available ASD-associated variants in a gene, with assessments based on mode of inheritance, effect size, and variant frequency in the general population. The approach was first presented in Mol Autism 7:44 (2016), and scores for 461 genes can be found in column I in supplementary table 4 from that paper.
Original Source
Zhang D Score

Score -0.32639654208008

Ranking 17551/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Original Source
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