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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for NNT |
Gene summary |
Gene information | Gene symbol | NNT | Gene ID | 23530 |
Gene name | nicotinamide nucleotide transhydrogenase | |
Synonyms | GCCD4 | |
Cytomap | 5p12 | |
Type of gene | protein-coding | |
Description | NAD(P) transhydrogenase, mitochondrialpyridine nucleotide transhydrogenase | |
Modification date | 20200313 | |
UniProtAcc | A0A024R0C3, A0A590UJA4, A0A590UJI3, A0A590UJM2, A0A590UJM7, | |
Context | - 24655393(Relative importance of redox buffers GSH and NAD P)H in age-related neurodegeneration and Alzheimer disease-like mouse neurons) |
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 NNT |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
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 NNT |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_134703 | chr5 | 43609143:43609346:43609516:43609551:43612908:43613036 | 43609516:43609551 |
exon_skip_140578 | chr5 | 43609143:43609346:43612908:43613481:43615848:43616065 | 43612908:43613481 |
exon_skip_15030 | chr5 | 43645357:43645510:43647924:43648182:43649147:43649308 | 43647924:43648182 |
exon_skip_157693 | chr5 | 43651784:43651884:43653018:43653213:43655840:43656073 | 43653018:43653213 |
exon_skip_178648 | chr5 | 43609143:43609346:43612908:43613137:43615848:43616034 | 43612908:43613137 |
exon_skip_195946 | chr5 | 43615848:43616065:43624032:43624120:43628200:43628387 | 43624032:43624120 |
exon_skip_196318 | chr5 | 43603204:43603294:43609143:43609346:43615848:43616034 | 43609143:43609346 |
exon_skip_247830 | chr5 | 43615848:43616065:43619032:43619119:43624032:43624120 | 43619032:43619119 |
exon_skip_259416 | chr5 | 43609143:43609346:43612908:43613137:43615848:43616065 | 43612908:43613137 |
exon_skip_267099 | chr5 | 43615848:43616065:43619087:43619119:43624032:43624120 | 43619087:43619119 |
exon_skip_274945 | chr5 | 43677779:43677806:43700119:43700237:43702621:43702736 | 43700119:43700237 |
exon_skip_295989 | chr5 | 43628200:43628387:43644192:43644325:43644611:43644802 | 43644192:43644325 |
exon_skip_57533 | chr5 | 43645357:43645510:43647924:43648182:43649147:43649158 | 43647924:43648182 |
exon_skip_61583 | chr5 | 43612908:43613137:43615848:43616065:43624032:43624120 | 43615848:43616065 |
exon_skip_7324 | chr5 | 43609143:43609346:43612908:43613481:43615848:43616034 | 43612908:43613481 |
exon_skip_91113 | chr5 | 43645357:43645510:43647924:43648440:43649147:43649308 | 43647924:43648440 |
exon_skip_94149 | chr5 | 43619087:43619119:43624032:43624120:43628200:43628387 | 43624032:43624120 |
exon_skip_99259 | chr5 | 43609143:43609346:43609516:43609551:43612908:43613137 | 43609516:43609551 |
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 NNT |
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 |
ENST00000264663 | 43612908 | 43613137 | Frame-shift |
ENST00000344920 | 43612908 | 43613137 | Frame-shift |
ENST00000264663 | 43619032 | 43619119 | Frame-shift |
ENST00000344920 | 43619032 | 43619119 | Frame-shift |
ENST00000264663 | 43700119 | 43700237 | Frame-shift |
ENST00000344920 | 43700119 | 43700237 | Frame-shift |
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 |
ENST00000264663 | 43612908 | 43613137 | Frame-shift |
ENST00000344920 | 43612908 | 43613137 | Frame-shift |
ENST00000264663 | 43619032 | 43619119 | Frame-shift |
ENST00000344920 | 43619032 | 43619119 | Frame-shift |
ENST00000264663 | 43653018 | 43653213 | Frame-shift |
ENST00000344920 | 43653018 | 43653213 | 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 |
ENST00000264663 | 43612908 | 43613137 | Frame-shift |
ENST00000344920 | 43612908 | 43613137 | Frame-shift |
ENST00000264663 | 43619032 | 43619119 | Frame-shift |
ENST00000344920 | 43619032 | 43619119 | Frame-shift |
ENST00000264663 | 43624032 | 43624120 | Frame-shift |
ENST00000344920 | 43624032 | 43624120 | Frame-shift |
ENST00000264663 | 43644192 | 43644325 | Frame-shift |
ENST00000344920 | 43644192 | 43644325 | Frame-shift |
ENST00000264663 | 43653018 | 43653213 | Frame-shift |
ENST00000344920 | 43653018 | 43653213 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NNT |
p-ENSG00000112992_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 |
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 |
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 NNT |
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 NNT |
- 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 NNT |
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 NNT |
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 NNT |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NNT |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q13423 | approved|withdrawn | DB09092 | Xanthinol | small molecule | Q13423 |
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RelatedDiseases for NNT |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |