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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 SLC25A30 |
 Gene summary |
| Gene information | Gene symbol | SLC25A30 | Gene ID | 253512 |
| Gene name | solute carrier family 25 member 30 | |
| Synonyms | KMCP1 | |
| Cytomap | 13q14.13 | |
| Type of gene | protein-coding | |
| Description | kidney mitochondrial carrier protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5SVS4 | |
| Context | PubMed: SLC25A30 [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 SLC25A30 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 SLC25A30 |
| 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 SLC25A30 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103458 | 13 | 45970082:45970150:45971392:45971473:45973074:45973213 | 45971392:45971473 | ENSG00000174032.12 | ENST00000310862.7,ENST00000539591.1,ENST00000519676.1 |
| exon_skip_103461 | 13 | 45973074:45973213:45975217:45975342:45976409:45976505 | 45975217:45975342 | ENSG00000174032.12 | ENST00000310862.7,ENST00000539591.1,ENST00000519676.1,ENST00000523988.1 |
| exon_skip_103462 | 13 | 45976460:45976505:45978461:45978547:45980017:45980112 | 45978461:45978547 | ENSG00000174032.12 | ENST00000310862.7,ENST00000522438.1,ENST00000539591.1,ENST00000519676.1,ENST00000519547.1,ENST00000463262.1 |
| exon_skip_103465 | 13 | 45978461:45978547:45980017:45980112:45985496:45985615 | 45980017:45980112 | ENSG00000174032.12 | ENST00000310862.7,ENST00000463262.1 |
| exon_skip_103469 | 13 | 45980017:45980112:45983061:45983209:45985496:45985615 | 45983061:45983209 | ENSG00000174032.12 | ENST00000519676.1 |
| exon_skip_103470 | 13 | 45980017:45980112:45983061:45983209:45992434:45992509 | 45983061:45983209 | ENSG00000174032.12 | ENST00000539591.1,ENST00000519547.1 |
| exon_skip_103471 | 13 | 45980017:45980112:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENSG00000174032.12 | ENST00000463262.1 |
| exon_skip_103474 | 13 | 45983061:45983209:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENSG00000174032.12 | ENST00000519676.1 |
| exon_skip_103476 | 13 | 45985496:45985615:45985867:45986073:45992434:45992509 | 45985867:45986073 | ENSG00000174032.12 | ENST00000310862.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC25A30 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_103458 | 13 | 45970082:45970150:45971392:45971473:45973074:45973213 | 45971392:45971473 | ENSG00000174032.12 | ENST00000519676.1,ENST00000539591.1,ENST00000310862.7 |
| exon_skip_103461 | 13 | 45973074:45973213:45975217:45975342:45976409:45976505 | 45975217:45975342 | ENSG00000174032.12 | ENST00000523988.1,ENST00000519676.1,ENST00000539591.1,ENST00000310862.7 |
| exon_skip_103462 | 13 | 45976460:45976505:45978461:45978547:45980017:45980112 | 45978461:45978547 | ENSG00000174032.12 | ENST00000519676.1,ENST00000539591.1,ENST00000310862.7,ENST00000519547.1,ENST00000522438.1,ENST00000463262.1 |
| exon_skip_103465 | 13 | 45978461:45978547:45980017:45980112:45985496:45985615 | 45980017:45980112 | ENSG00000174032.12 | ENST00000310862.7,ENST00000463262.1 |
| exon_skip_103469 | 13 | 45980017:45980112:45983061:45983209:45985496:45985615 | 45983061:45983209 | ENSG00000174032.12 | ENST00000519676.1 |
| exon_skip_103470 | 13 | 45980017:45980112:45983061:45983209:45992434:45992509 | 45983061:45983209 | ENSG00000174032.12 | ENST00000539591.1,ENST00000519547.1 |
| exon_skip_103471 | 13 | 45980017:45980112:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENSG00000174032.12 | ENST00000463262.1 |
| exon_skip_103474 | 13 | 45983061:45983209:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENSG00000174032.12 | ENST00000519676.1 |
| exon_skip_103476 | 13 | 45985496:45985615:45985867:45986073:45992434:45992509 | 45985867:45986073 | ENSG00000174032.12 | ENST00000310862.7 |
| 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 SLC25A30 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for SLC25A30 |
| 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 SLC25A30 |
| - 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 |
| BLCA | TCGA-DK-A3IM-01 | exon_skip_103471 exon_skip_103474 | 45985497 | 45985615 | 45985521 | 45985522 | Frame_Shift_Ins | - | C | p.G13fs |
| LUSC | TCGA-39-5027-01 | exon_skip_103465 | 45980018 | 45980112 | 45980021 | 45980021 | Nonsense_Mutation | C | A | p.E102* |
| COAD | TCGA-DM-A1DA-01 | exon_skip_103469 exon_skip_103470 | 45983062 | 45983209 | 45983191 | 45983191 | Nonsense_Mutation | A | T | p.L28X |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 45971393 | 45971473 | 45971414 | 45971414 | Missense_Mutation | T | G | p.R220S |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45971393 | 45971473 | 45971455 | 45971455 | Missense_Mutation | A | C | p.F207V |
| K029AX_SKIN | 45971393 | 45971473 | 45971455 | 45971455 | Missense_Mutation | A | G | p.F207L |
| FTC238_THYROID | 45971393 | 45971473 | 45971457 | 45971457 | Missense_Mutation | C | A | p.G206V |
| SLR21_KIDNEY | 45975218 | 45975342 | 45975246 | 45975246 | Missense_Mutation | T | C | p.M145V |
| HS939T_SKIN | 45980018 | 45980112 | 45980030 | 45980030 | Missense_Mutation | C | T | p.E48K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45983062 | 45983209 | 45983075 | 45983075 | Missense_Mutation | C | T | p.A16T |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45975218 | 45975342 | 45975229 | 45975229 | Nonsense_Mutation | A | T | p.Y150* |
| HEC59_ENDOMETRIUM | 45980018 | 45980112 | 45980042 | 45980042 | Nonsense_Mutation | G | A | p.R44* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A30 |
| 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 |
| exon_skip_103471 | 13 | 45980017:45980112:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENST00000463262.1 | KIRC | rs7997155 | chr13:45985608 | A/T | 1.85e-07 |
| exon_skip_103471 | 13 | 45980017:45980112:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENST00000463262.1 | KIRC | rs12872200 | chr13:45985583 | T/G | 6.73e-05 |
| exon_skip_103474 | 13 | 45983061:45983209:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENST00000519676.1 | KIRC | rs7997155 | chr13:45985608 | A/T | 1.85e-07 |
| exon_skip_103474 | 13 | 45983061:45983209:45985496:45985615:45992434:45992509 | 45985496:45985615 | ENST00000519676.1 | KIRC | rs12872200 | chr13:45985583 | T/G | 6.73e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A30 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A30 |
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RelatedDrugs for SLC25A30 |
| 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 SLC25A30 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC25A30 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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