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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 NDUFV1 |
 Gene summary |
| Gene information | Gene symbol | NDUFV1 | Gene ID | 4723 |
| Gene name | NADH:ubiquinone oxidoreductase core subunit V1 | |
| Synonyms | CI-51K|CI51KD|MC1DN4|UQOR1 | |
| Cytomap | 11q13.2 | |
| Type of gene | protein-coding | |
| Description | NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialNADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDaNADH-ubiquinone oxidoreductase 51 kDa subunitcomplex I 51 kda subunitcomplex I 51kDa subunitcomplex I, mitochondrial respiratory chainm | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 31178714(Identification of Temporal Characteristic Networks of Peripheral Blood Changes in Alzheimer's Disease Based on Weighted Gene Co-expression Network Analysis) |
| 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 NDUFV1 |
| 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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ENSG00000167792
| 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 | DOWN | ENST00000533919.5 | NDUFV1-226:nonsense_mediated_decay:NDUFV1 | 4.281351e+01 | -8.076191e-01 | 1.603498e-07 | 3.162294e-06 |
| CB | DOWN | ENST00000527355.5 | NDUFV1-209:nonsense_mediated_decay:NDUFV1 | 9.134648e+01 | -1.038045e+00 | 1.715978e-07 | 3.350377e-06 |
| TC | DOWN | ENST00000527355.5 | NDUFV1-209:nonsense_mediated_decay:NDUFV1 | 4.704777e+01 | -1.956039e+00 | 7.786463e-13 | 2.966966e-10 |
| TC | DOWN | ENST00000531250.1 | NDUFV1-220:retained_intron:NDUFV1 | 4.382392e+01 | -8.405251e-01 | 1.580549e-09 | 1.932569e-07 |
| TC | DOWN | ENST00000533919.5 | NDUFV1-226:nonsense_mediated_decay:NDUFV1 | 3.385206e+01 | -9.210211e-01 | 2.126177e-07 | 1.141117e-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 NDUFV1 |
| 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_110167 | chr11 | 67611070:67611207:67611403:67611569:67611897:67611967 | 67611403:67611569 |
| exon_skip_111453 | chr11 | 67606961:67607076:67607299:67607324:67608396:67608457 | 67607299:67607324 |
| exon_skip_120975 | chr11 | 67610393:67610570:67610995:67611207:67611403:67611569 | 67610995:67611207 |
| exon_skip_125073 | chr11 | 67606900:67607076:67608400:67608478:67608552:67608722 | 67608400:67608478 |
| exon_skip_131811 | chr11 | 67606900:67607076:67608432:67608478:67608552:67608722 | 67608432:67608478 |
| exon_skip_159924 | chr11 | 67606961:67607076:67608396:67608478:67608552:67608606 | 67608396:67608478 |
| exon_skip_18128 | chr11 | 67609452:67609635:67610381:67610570:67610995:67611007 | 67610381:67610570 |
| exon_skip_182034 | chr11 | 67606961:67607076:67608396:67608457:67608552:67608722 | 67608396:67608457 |
| exon_skip_193678 | chr11 | 67611006:67611207:67611477:67611569:67611897:67611967 | 67611477:67611569 |
| exon_skip_195227 | chr11 | 67611006:67611207:67611522:67611569:67611897:67611967 | 67611522:67611569 |
| exon_skip_200041 | chr11 | 67606961:67607076:67607299:67607616:67608396:67608457 | 67607299:67607616 |
| exon_skip_206820 | chr11 | 67611522:67611569:67611897:67611978:67612120:67612180 | 67611897:67611978 |
| exon_skip_208057 | chr11 | 67606900:67607076:67608396:67608478:67608552:67608722 | 67608396:67608478 |
| exon_skip_210963 | chr11 | 67611095:67611207:67611522:67611569:67611897:67611967 | 67611522:67611569 |
| exon_skip_216516 | chr11 | 67611006:67611207:67611403:67611569:67611897:67611967 | 67611403:67611569 |
| exon_skip_216623 | chr11 | 67606944:67607049:67608400:67608478:67608552:67608606 | 67608400:67608478 |
| exon_skip_218110 | chr11 | 67606944:67607076:67607366:67607616:67608396:67608457 | 67607366:67607616 |
| exon_skip_230225 | chr11 | 67611095:67611207:67611403:67611569:67611897:67611967 | 67611403:67611569 |
| exon_skip_23441 | chr11 | 67606958:67607076:67607299:67607324:67608396:67608478 | 67607299:67607324 |
| exon_skip_239905 | chr11 | 67609452:67609635:67610381:67610570:67610995:67611207 | 67610381:67610570 |
| exon_skip_240247 | chr11 | 67606961:67607076:67607366:67607496:67608400:67608434 | 67607366:67607496 |
| exon_skip_250124 | chr11 | 67606944:67607049:67608396:67608478:67608552:67608606 | 67608396:67608478 |
| exon_skip_26146 | chr11 | 67606900:67607076:67608396:67608457:67608552:67608722 | 67608396:67608457 |
| exon_skip_264754 | chr11 | 67606961:67607076:67608396:67608457:67608552:67608606 | 67608396:67608457 |
| exon_skip_265318 | chr11 | 67611522:67611569:67611897:67611978:67612120:67612209 | 67611897:67611978 |
| exon_skip_266252 | chr11 | 67606961:67607076:67608432:67608478:67608552:67608606 | 67608432:67608478 |
| exon_skip_2690 | chr11 | 67606961:67607076:67608400:67608478:67608552:67608606 | 67608400:67608478 |
| exon_skip_272909 | chr11 | 67606961:67607076:67607366:67607616:67608396:67608457 | 67607366:67607616 |
| exon_skip_278648 | chr11 | 67606933:67607076:67607366:67607496:67608400:67608478 | 67607366:67607496 |
| exon_skip_49909 | chr11 | 67611095:67611207:67611477:67611569:67611897:67611967 | 67611477:67611569 |
| exon_skip_55562 | chr11 | 67611070:67611207:67611522:67611569:67611897:67611967 | 67611522:67611569 |
| exon_skip_58176 | chr11 | 67611070:67611207:67611477:67611569:67611897:67611967 | 67611477:67611569 |
| exon_skip_86228 | chr11 | 67611095:67611207:67611403:67611569:67612120:67612209 | 67611403:67611569 |
| exon_skip_95859 | chr11 | 67611006:67611207:67611403:67611569:67612120:67612209 | 67611403:67611569 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for NDUFV1 |
| 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 |
| ENST00000322776 | 67608396 | 67608478 | Frame-shift |
| ENST00000322776 | 67610381 | 67610570 | Frame-shift |
| ENST00000322776 | 67611403 | 67611569 | Frame-shift |
| ENST00000322776 | 67611897 | 67611978 | Frame-shift |
| ENST00000322776 | 67610995 | 67611207 | 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 |
| ENST00000322776 | 67611897 | 67611978 | Frame-shift |
| 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 |
| ENST00000322776 | 67608396 | 67608478 | Frame-shift |
| ENST00000322776 | 67610381 | 67610570 | Frame-shift |
| ENST00000322776 | 67611403 | 67611569 | Frame-shift |
| ENST00000322776 | 67611897 | 67611978 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NDUFV1 |
p-ENSG00000167792_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 |
| ENST00000322776 | 1613 | 464 | 67610995 | 67611207 | 855 | 1066 | 234 | 304 |
| 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 |
| 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 |
| 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 |
| P49821 | 234 | 304 | 242 | 244 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 265 | 268 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 272 | 284 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 286 | 291 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 21 | 464 | Chain | ID=PRO_0000019976;Note=NADH dehydrogenase [ubiquinone] flavoprotein 1%2C mitochondrial |
| P49821 | 234 | 304 | 235 | 237 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 245 | 256 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 259 | 263 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 296 | 301 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| P49821 | 234 | 304 | 257 | 257 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91YT0 |
| P49821 | 234 | 304 | 277 | 277 | Natural variant | ID=VAR_014481;Note=N->Y;Dbxref=dbSNP:rs1043770 |
| P49821 | 234 | 304 | 199 | 247 | Nucleotide binding | Note=FMN;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P49821 | 234 | 304 | 302 | 304 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5XTB |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NDUFV1 |
| 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 NDUFV1 |
| - 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 NDUFV1 |
| 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 NDUFV1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NDUFV1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NDUFV1 |
| 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 NDUFV1 |
| 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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