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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NDUFAF5 |
 Gene summary |
| Gene information | Gene symbol | NDUFAF5 | Gene ID | 79133 |
| Gene name | NADH:ubiquinone oxidoreductase complex assembly factor 5 | |
| Synonyms | C20orf7|MC1DN16|bA526K24.2|dJ842G6.1 | |
| Cytomap | 20p12.1 | |
| Type of gene | protein-coding | |
| Description | arginine-hydroxylase NDUFAF5, mitochondrialNADH dehydrogenase (ubiquinone) complex I, assembly factor 5NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5probable methyltransferase C20orf7, mitochondrialputative methyltransferase NDUF | |
| Modification date | 20200313 | |
| UniProtAcc | B3KR61, Q5TEU4, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for NDUFAF5 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000101247
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000479716.5 | NDUFAF5-212:lncRNA:NDUFAF5 | 1.125614e+01 | 1.002929e+00 | 1.916304e-07 | 3.680346e-06 |
| CB | UP | ENST00000481249.5 | NDUFAF5-213:lncRNA:NDUFAF5 | 3.224131e+01 | 1.003237e+00 | 5.200363e-06 | 6.057703e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NDUFAF5 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_119778 | chr20 | 13808842:13808902:13814418:13814515:13816463:13816546 | 13814418:13814515 |
| exon_skip_130482 | chr20 | 13798461:13798500:13801508:13801683:13808842:13808891 | 13801508:13801683 |
| exon_skip_143287 | chr20 | 13798461:13798500:13801486:13801683:13808842:13808891 | 13801486:13801683 |
| exon_skip_145989 | chr20 | 13801568:13801683:13801818:13801873:13803150:13803421 | 13801818:13801873 |
| exon_skip_162547 | chr20 | 13801573:13801683:13801818:13801873:13808842:13808865 | 13801818:13801873 |
| exon_skip_192769 | chr20 | 13808842:13808902:13816463:13816546:13816875:13816957 | 13816463:13816546 |
| exon_skip_236209 | chr20 | 13787312:13787352:13788589:13788652:13793180:13793227 | 13788589:13788652 |
| exon_skip_257457 | chr20 | 13801568:13801683:13801818:13801873:13808842:13808865 | 13801818:13801873 |
| exon_skip_280620 | chr20 | 13788589:13788652:13793180:13793227:13798461:13798500 | 13793180:13793227 |
| exon_skip_29455 | chr20 | 13814418:13814515:13816463:13816546:13816875:13816957 | 13816463:13816546 |
| exon_skip_37923 | chr20 | 13793180:13793227:13794838:13794941:13798461:13798500 | 13794838:13794941 |
| exon_skip_43043 | chr20 | 13787312:13787352:13788589:13788652:13793160:13793227 | 13788589:13788652 |
| exon_skip_64670 | chr20 | 13788589:13788652:13793160:13793227:13798461:13798500 | 13793160:13793227 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_64670 | Mayo_CB | 5.897561e-01 | 7.174627e-01 | -1.277066e-01 | 3.935772e-06 |
| exon_skip_37923 | Mayo_CB | 4.223171e-01 | 5.749351e-01 | -1.526180e-01 | 2.467151e-05 |
| exon_skip_37923 | Mayo_TC | 5.969512e-01 | 6.984416e-01 | -1.014903e-01 | 3.006135e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for NDUFAF5 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378106 | 13794838 | 13794941 | Frame-shift |
| ENST00000378106 | 13801486 | 13801683 | In-frame |
| ENST00000378106 | 13816463 | 13816546 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378106 | 13794838 | 13794941 | Frame-shift |
| ENST00000378106 | 13816463 | 13816546 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000378106 | 13788589 | 13788652 | Frame-shift |
| ENST00000378106 | 13794838 | 13794941 | Frame-shift |
| ENST00000378106 | 13816463 | 13816546 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NDUFAF5 |
p-ENSG00000101247_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000378106 | 5546 | 345 | 13801486 | 13801683 | 640 | 836 | 173 | 239 |
| ENST00000378106 | 5546 | 345 | 13816463 | 13816546 | 899 | 981 | 260 | 287 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000378106 | 5546 | 345 | 13816463 | 13816546 | 899 | 981 | 260 | 287 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000378106 | 5546 | 345 | 13816463 | 13816546 | 899 | 981 | 260 | 287 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q5TEU4 | 173 | 239 | 37 | 345 | Chain | ID=PRO_0000307213;Note=Arginine-hydroxylase NDUFAF5%2C mitochondrial |
| Q5TEU4 | 173 | 239 | 229 | 229 | Natural variant | ID=VAR_054119;Note=In MT-C1D. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18940309;Dbxref=dbSNP:rs118203929,PMID:18940309 |
| Q5TEU4 | 260 | 287 | 37 | 345 | Chain | ID=PRO_0000307213;Note=Arginine-hydroxylase NDUFAF5%2C mitochondrial |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q5TEU4 | 260 | 287 | 37 | 345 | Chain | ID=PRO_0000307213;Note=Arginine-hydroxylase NDUFAF5%2C mitochondrial |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q5TEU4 | 260 | 287 | 37 | 345 | Chain | ID=PRO_0000307213;Note=Arginine-hydroxylase NDUFAF5%2C mitochondrial |
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3'-UTR located exon skipping events that lost miRNA binding sites in NDUFAF5 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for NDUFAF5 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for NDUFAF5 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFAF5 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| PCC | exon_skip_119778 | rs2423749 | chr20:13813305 | 1.371092e-04 | 2.212409e-02 |
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Correlation with RNA binding proteins (RBPs) for NDUFAF5 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | U2AF2 | exon_skip_64670 | -5.307994e-01 | 3.325218e-12 |
| CB | RBM3 | exon_skip_64670 | 5.570967e-01 | 1.600508e-13 |
| CB | TRA2A | exon_skip_64670 | -5.134934e-01 | 2.132093e-11 |
| CB | FUBP1 | exon_skip_64670 | -4.512174e-01 | 7.685543e-09 |
| CB | NUP42 | exon_skip_64670 | 6.019790e-01 | 4.659482e-16 |
| CB | U2AF2 | exon_skip_280620 | -5.136931e-01 | 8.170044e-12 |
| CB | TRA2A | exon_skip_280620 | -5.185835e-01 | 4.782634e-12 |
| CB | FUBP1 | exon_skip_280620 | -4.797573e-01 | 2.680858e-10 |
| CB | NUP42 | exon_skip_280620 | 4.664963e-01 | 9.483960e-10 |
| CB | CNOT4 | exon_skip_37923 | -4.277382e-01 | 1.869708e-08 |
| CB | PCBP4 | exon_skip_37923 | 4.891175e-01 | 6.077401e-11 |
| CB | TRA2A | exon_skip_37923 | -6.068808e-01 | 2.267271e-17 |
| CB | NUP42 | exon_skip_37923 | 4.562782e-01 | 1.499638e-09 |
| HCC | SRSF4 | exon_skip_37923 | -4.029567e-01 | 6.342215e-12 |
| IFG | RBMS3 | exon_skip_37923 | -5.288086e-01 | 5.478618e-03 |
| IFG | PABPN1L | exon_skip_37923 | -4.025042e-01 | 4.149134e-02 |
| IFG | ZNF326 | exon_skip_37923 | -4.561840e-01 | 1.916232e-02 |
| IFG | CNOT4 | exon_skip_37923 | -5.202416e-01 | 6.441334e-03 |
| IFG | IGF2BP3 | exon_skip_37923 | -5.436279e-01 | 4.099342e-03 |
| IFG | PCBP1 | exon_skip_37923 | -5.619981e-01 | 2.808613e-03 |
| IFG | TRA2A | exon_skip_37923 | -6.665552e-01 | 2.007412e-04 |
| IFG | PCBP2 | exon_skip_37923 | -5.702064e-01 | 2.355304e-03 |
| IFG | PABPC5 | exon_skip_37923 | -4.861565e-01 | 1.179735e-02 |
| IFG | PABPC1 | exon_skip_37923 | -5.639596e-01 | 2.694024e-03 |
| IFG | SRSF4 | exon_skip_37923 | -5.433978e-01 | 4.118257e-03 |
| IFG | RBM41 | exon_skip_37923 | -5.351529e-01 | 4.846570e-03 |
| IFG | TARDBP | exon_skip_119778 | -6.130086e-01 | 1.447824e-03 |
| IFG | RBFOX2 | exon_skip_119778 | -4.624756e-01 | 2.287738e-02 |
| IFG | TRA2A | exon_skip_119778 | -5.747228e-01 | 3.308347e-03 |
| IFG | HNRNPD | exon_skip_119778 | -6.083551e-01 | 1.609728e-03 |
| IFG | PABPC5 | exon_skip_119778 | -5.213998e-01 | 8.978538e-03 |
| IFG | SRSF9 | exon_skip_119778 | -6.783460e-01 | 2.691938e-04 |
| IFG | NOVA1 | exon_skip_119778 | -6.510009e-01 | 5.708079e-04 |
| TC | HNRNPA0 | exon_skip_37923 | 4.097917e-01 | 8.141258e-08 |
| TC | NOVA1 | exon_skip_37923 | 4.988237e-01 | 2.203614e-11 |
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RelatedDrugs for NDUFAF5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NDUFAF5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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