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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 SLC25A27 |
 Gene summary |
| Gene information | Gene symbol | SLC25A27 | Gene ID | 9481 |
| Gene name | solute carrier family 25 member 27 | |
| Synonyms | UCP4 | |
| Cytomap | 6p12.3 | |
| Type of gene | protein-coding | |
| Description | mitochondrial uncoupling protein 4UCP 4uncoupling protein 4 | |
| Modification date | 20180523 | |
| UniProtAcc | O95847 | |
| Context | PubMed: SLC25A27 [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 SLC25A27 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 SLC25A27 |
| 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 SLC25A27 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_452478 | 6 | 46620721:46621035:46623579:46623771:46626698:46626783 | 46623579:46623771 | ENSG00000153291.11 | ENST00000411689.2 |
| exon_skip_452479 | 6 | 46623579:46623767:46626161:46626265:46626698:46626783 | 46626161:46626265 | ENSG00000153291.11 | ENST00000452689.2 |
| exon_skip_452481 | 6 | 46630196:46630235:46632510:46632623:46636445:46636484 | 46632510:46632623 | ENSG00000153291.11 | ENST00000411689.2,ENST00000371347.5,ENST00000452689.2,ENST00000604217.1,ENST00000603486.1,ENST00000604127.1 |
| exon_skip_452482 | 6 | 46636445:46636530:46637871:46637964:46638862:46638965 | 46637871:46637964 | ENSG00000153291.11 | ENST00000371347.5,ENST00000452689.2,ENST00000604616.1,ENST00000604217.1,ENST00000604127.1 |
| exon_skip_452488 | 6 | 46638862:46638965:46644383:46644480:46645347:46645471 | 46644383:46644480 | ENSG00000153291.11 | ENST00000604127.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC25A27 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_452478 | 6 | 46620721:46621035:46623579:46623771:46626698:46626783 | 46623579:46623771 | ENSG00000153291.11 | ENST00000411689.2 |
| exon_skip_452479 | 6 | 46623579:46623767:46626161:46626265:46626698:46626783 | 46626161:46626265 | ENSG00000153291.11 | ENST00000452689.2 |
| exon_skip_452481 | 6 | 46630196:46630235:46632510:46632623:46636445:46636484 | 46632510:46632623 | ENSG00000153291.11 | ENST00000371347.5,ENST00000411689.2,ENST00000452689.2,ENST00000603486.1,ENST00000604217.1,ENST00000604127.1 |
| exon_skip_452482 | 6 | 46636445:46636530:46637871:46637964:46638862:46638965 | 46637871:46637964 | ENSG00000153291.11 | ENST00000371347.5,ENST00000452689.2,ENST00000604217.1,ENST00000604127.1,ENST00000604616.1 |
| exon_skip_452488 | 6 | 46638862:46638965:46644383:46644480:46645347:46645471 | 46644383:46644480 | ENSG00000153291.11 | ENST00000604127.1 |
| 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 SLC25A27 |
| 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 |
| ENST00000371347 | 46632510 | 46632623 | Frame-shift |
| ENST00000371347 | 46637871 | 46637964 | In-frame |
| 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 |
| ENST00000371347 | 46632510 | 46632623 | Frame-shift |
| ENST00000371347 | 46637871 | 46637964 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC25A27 |
| 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 |
| ENST00000371347 | 2980 | 323 | 46637871 | 46637964 | 957 | 1049 | 235 | 265 |
| 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 |
| ENST00000371347 | 2980 | 323 | 46637871 | 46637964 | 957 | 1049 | 235 | 265 |
| 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 |
| O95847 | 235 | 265 | 236 | 323 | Alternative sequence | ID=VSP_045916;Note=In isoform 2. LCSGLVASILGTPADVIKSRIMNQPRDKQGRGLLYKSSTDCLIQAVQGEGFMSLYKGFLPSWLRMTPWSMVFWLTYEKIREMSGVSPF->DLVGSHKAIQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O95847 | 235 | 265 | 1 | 323 | Chain | ID=PRO_0000090676;Note=Mitochondrial uncoupling protein 4 |
| O95847 | 235 | 265 | 226 | 317 | Repeat | Note=Solcar 3 |
| O95847 | 235 | 265 | 229 | 248 | Transmembrane | Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O95847 | 235 | 265 | 236 | 323 | Alternative sequence | ID=VSP_045916;Note=In isoform 2. LCSGLVASILGTPADVIKSRIMNQPRDKQGRGLLYKSSTDCLIQAVQGEGFMSLYKGFLPSWLRMTPWSMVFWLTYEKIREMSGVSPF->DLVGSHKAIQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O95847 | 235 | 265 | 1 | 323 | Chain | ID=PRO_0000090676;Note=Mitochondrial uncoupling protein 4 |
| O95847 | 235 | 265 | 226 | 317 | Repeat | Note=Solcar 3 |
| O95847 | 235 | 265 | 229 | 248 | Transmembrane | Note=Helical%3B Name%3D5;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC25A27 |
| - 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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_452478 | 46623580 | 46623771 | 46623670 | 46623670 | Frame_Shift_Del | C | - | p.A66fs |
| KIRC | TCGA-B0-4821-01 | exon_skip_452482 | 46637872 | 46637964 | 46637908 | 46637909 | Frame_Shift_Ins | - | C | p.T247fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_452478 | 46623580 | 46623771 | 46623609 | 46623609 | Nonsense_Mutation | C | T | p.R46* |
| UCS | TCGA-NA-A4R1-01 | exon_skip_452478 | 46623580 | 46623771 | 46623609 | 46623609 | Nonsense_Mutation | C | T | p.R46* |
| UCS | TCGA-NA-A4R1-01 | exon_skip_452478 | 46623580 | 46623771 | 46623609 | 46623609 | Nonsense_Mutation | C | T | p.R46X |
| UCEC | TCGA-AP-A051-01 | exon_skip_452481 | 46632511 | 46632623 | 46632563 | 46632563 | Nonsense_Mutation | C | T | p.R187* |
| - 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 |
| HCT15_LARGE_INTESTINE | 46623580 | 46623771 | 46623675 | 46623675 | Missense_Mutation | T | C | p.Y68H |
| MFE319_ENDOMETRIUM | 46623580 | 46623771 | 46623676 | 46623676 | Missense_Mutation | A | C | p.Y68S |
| HS821T_FIBROBLAST | 46637872 | 46637964 | 46637912 | 46637912 | Missense_Mutation | G | A | p.A249T |
| NCIH64_LUNG | 46623580 | 46623771 | 46623716 | 46623717 | Nonsense_Mutation | GG | AT | p.E82* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A27 |
| 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 SLC25A27 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A27 |
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RelatedDrugs for SLC25A27 |
| 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 SLC25A27 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC25A27 | C0036341 | Schizophrenia | 2 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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