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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for NDUFB5 |
 Gene summary |
| Gene information | Gene symbol | NDUFB5 | Gene ID | 4711 |
| Gene name | NADH:ubiquinone oxidoreductase subunit B5 | |
| Synonyms | CISGDH|SGDH | |
| Cytomap | 3q26.33 | |
| Type of gene | protein-coding | |
| Description | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrialNADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDaNADH-ubiquinone oxidoreductase SGDH subunitcomplex I SGDH subunitcomplex I-SGDH | |
| Modification date | 20180522 | |
| UniProtAcc | O43674 | |
| Context | PubMed: NDUFB5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for NDUFB5 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for NDUFB5 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NDUFB5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379615 | 3 | 179322694:179322727:179325545:179325600:179333772:179333837 | 179325545:179325600 | ENSG00000136521.8 | ENST00000472629.1 |
| exon_skip_379616 | 3 | 179322694:179322727:179325545:179325600:179334770:179334832 | 179325545:179325600 | ENSG00000136521.8 | ENST00000473500.1 |
| exon_skip_379618 | 3 | 179322694:179322727:179332739:179332847:179333770:179333837 | 179332739:179332847 | ENSG00000136521.8 | ENST00000359944.6,ENST00000480374.1 |
| exon_skip_379623 | 3 | 179322694:179322727:179332758:179332847:179333770:179333837 | 179332758:179332847 | ENSG00000136521.8 | ENST00000259037.3 |
| exon_skip_379628 | 3 | 179322694:179322727:179333770:179333837:179334770:179334832 | 179333770:179333837 | ENSG00000136521.8 | ENST00000468210.1 |
| exon_skip_379634 | 3 | 179322694:179322727:179334770:179334832:179336202:179336265 | 179334770:179334832 | ENSG00000136521.8 | ENST00000496904.1,ENST00000493866.1 |
| exon_skip_379646 | 3 | 179325545:179325600:179333772:179333837:179334770:179334832 | 179333772:179333837 | ENSG00000136521.8 | ENST00000472629.1 |
| exon_skip_379651 | 3 | 179332758:179332847:179333343:179333403:179333770:179333837 | 179333343:179333403 | ENSG00000136521.8 | ENST00000482604.1 |
| exon_skip_379652 | 3 | 179332758:179332847:179333770:179333837:179334770:179334832 | 179333770:179333837 | ENSG00000136521.8 | ENST00000259037.3,ENST00000359944.6,ENST00000488002.1 |
| exon_skip_379653 | 3 | 179332758:179332847:179333770:179333837:179336202:179336265 | 179333770:179333837 | ENSG00000136521.8 | ENST00000480374.1 |
| exon_skip_379663 | 3 | 179333794:179333837:179334770:179334832:179336202:179336265 | 179334770:179334832 | ENSG00000136521.8 | ENST00000259037.3,ENST00000482604.1,ENST00000359944.6,ENST00000472629.1,ENST00000468210.1,ENST00000491054.1 |
| exon_skip_379664 | 3 | 179333794:179333837:179334770:179334832:179341707:179341879 | 179334770:179334832 | ENSG00000136521.8 | ENST00000471112.1 |
| exon_skip_379665 | 3 | 179333794:179333837:179336202:179336309:179341707:179341879 | 179336202:179336309 | ENSG00000136521.8 | ENST00000480374.1 |
| exon_skip_379667 | 3 | 179334770:179334832:179336202:179336309:179341707:179341879 | 179336202:179336309 | ENSG00000136521.8 | ENST00000259037.3,ENST00000493866.1,ENST00000473500.1,ENST00000482604.1,ENST00000359944.6,ENST00000472629.1,ENST00000476587.1,ENST00000468210.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NDUFB5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379615 | 3 | 179322694:179322727:179325545:179325600:179333772:179333837 | 179325545:179325600 | ENSG00000136521.8 | ENST00000472629.1 |
| exon_skip_379616 | 3 | 179322694:179322727:179325545:179325600:179334770:179334832 | 179325545:179325600 | ENSG00000136521.8 | ENST00000473500.1 |
| exon_skip_379618 | 3 | 179322694:179322727:179332739:179332847:179333770:179333837 | 179332739:179332847 | ENSG00000136521.8 | ENST00000359944.6,ENST00000480374.1 |
| exon_skip_379623 | 3 | 179322694:179322727:179332758:179332847:179333770:179333837 | 179332758:179332847 | ENSG00000136521.8 | ENST00000259037.3 |
| exon_skip_379628 | 3 | 179322694:179322727:179333770:179333837:179334770:179334832 | 179333770:179333837 | ENSG00000136521.8 | ENST00000468210.1 |
| exon_skip_379634 | 3 | 179322694:179322727:179334770:179334832:179336202:179336265 | 179334770:179334832 | ENSG00000136521.8 | ENST00000493866.1,ENST00000496904.1 |
| exon_skip_379646 | 3 | 179325545:179325600:179333772:179333837:179334770:179334832 | 179333772:179333837 | ENSG00000136521.8 | ENST00000472629.1 |
| exon_skip_379651 | 3 | 179332758:179332847:179333343:179333403:179333770:179333837 | 179333343:179333403 | ENSG00000136521.8 | ENST00000482604.1 |
| exon_skip_379652 | 3 | 179332758:179332847:179333770:179333837:179334770:179334832 | 179333770:179333837 | ENSG00000136521.8 | ENST00000488002.1,ENST00000259037.3,ENST00000359944.6 |
| exon_skip_379653 | 3 | 179332758:179332847:179333770:179333837:179336202:179336265 | 179333770:179333837 | ENSG00000136521.8 | ENST00000480374.1 |
| exon_skip_379663 | 3 | 179333794:179333837:179334770:179334832:179336202:179336265 | 179334770:179334832 | ENSG00000136521.8 | ENST00000259037.3,ENST00000472629.1,ENST00000468210.1,ENST00000359944.6,ENST00000482604.1,ENST00000491054.1 |
| exon_skip_379664 | 3 | 179333794:179333837:179334770:179334832:179341707:179341879 | 179334770:179334832 | ENSG00000136521.8 | ENST00000471112.1 |
| exon_skip_379665 | 3 | 179333794:179333837:179336202:179336309:179341707:179341879 | 179336202:179336309 | ENSG00000136521.8 | ENST00000480374.1 |
| exon_skip_379667 | 3 | 179334770:179334832:179336202:179336309:179341707:179341879 | 179336202:179336309 | ENSG00000136521.8 | ENST00000259037.3,ENST00000493866.1,ENST00000472629.1,ENST00000468210.1,ENST00000359944.6,ENST00000482604.1,ENST00000473500.1,ENST00000476587.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NDUFB5 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000259037 | 179332758 | 179332847 | Frame-shift |
| ENST00000259037 | 179333770 | 179333837 | Frame-shift |
| ENST00000259037 | 179334770 | 179334832 | Frame-shift |
| ENST00000259037 | 179336202 | 179336309 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000259037 | 179332758 | 179332847 | Frame-shift |
| ENST00000259037 | 179333770 | 179333837 | Frame-shift |
| ENST00000259037 | 179334770 | 179334832 | Frame-shift |
| ENST00000259037 | 179336202 | 179336309 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NDUFB5 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for NDUFB5 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-AZ-4315-01 | exon_skip_379618 exon_skip_379623 | 179332740 | 179332847 | 179332767 | 179332767 | Nonsense_Mutation | C | T | p.R45X |
| COAD | TCGA-AZ-4315-01 | exon_skip_379618 exon_skip_379623 | 179332759 | 179332847 | 179332767 | 179332767 | Nonsense_Mutation | C | T | p.R45X |
| COAD | TCGA-AZ-6598-01 | exon_skip_379664 exon_skip_379663 exon_skip_379634 | 179334771 | 179334832 | 179334770 | 179334770 | Splice_Site | G | T | . |
| THYM | TCGA-5U-AB0F-01 | exon_skip_379665 exon_skip_379667 | 179336203 | 179336309 | 179336201 | 179336201 | Splice_Site | A | G | . |
| KICH | TCGA-KL-8338-01 | exon_skip_379665 exon_skip_379667 | 179336203 | 179336309 | 179336311 | 179336311 | Splice_Site | T | C | . |
| KICH | TCGA-KL-8338-01 | exon_skip_379665 exon_skip_379667 | 179336203 | 179336309 | 179336311 | 179336311 | Splice_Site | T | C | p.R150_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| HEC59_ENDOMETRIUM | 179336203 | 179336309 | 179336294 | 179336294 | Frame_Shift_Del | A | - | p.E145fs |
| LNCAPCLONEFGC_PROSTATE | 179332740 | 179332847 | 179332762 | 179332762 | Missense_Mutation | C | A | p.P43H |
| LNCAPCLONEFGC_PROSTATE | 179332759 | 179332847 | 179332762 | 179332762 | Missense_Mutation | C | A | p.P43H |
| HS729_SOFT_TISSUE | 179334771 | 179334832 | 179334804 | 179334804 | Missense_Mutation | A | G | p.Y105C |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179334771 | 179334832 | 179334807 | 179334807 | Missense_Mutation | T | C | p.V106A |
| HCT15_LARGE_INTESTINE | 179336203 | 179336309 | 179336264 | 179336264 | Missense_Mutation | G | T | p.R135I |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 179336203 | 179336309 | 179336271 | 179336271 | Missense_Mutation | G | A | p.M137I |
| 253JBV_URINARY_TRACT | 179336203 | 179336309 | 179336283 | 179336283 | Missense_Mutation | G | C | p.Q141H |
| TE5_OESOPHAGUS | 179336203 | 179336309 | 179336283 | 179336283 | Missense_Mutation | G | C | p.Q141H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFB5 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDUFB5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDUFB5 |
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RelatedDrugs for NDUFB5 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NDUFB5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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