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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 SLC25A33 |
 Gene summary |
| Gene information | Gene symbol | SLC25A33 | Gene ID | 84275 |
| Gene name | solute carrier family 25 member 33 | |
| Synonyms | BMSC-MCP|PNC1 | |
| Cytomap | 1p36.22 | |
| Type of gene | protein-coding | |
| Description | solute carrier family 25 member 33PNC1 proteinbone marrow stromal cell mitochondrial carrier proteinhuBMSC-MCPmitochondrial carrier proteinnovel mitochondrial carrier proteinsolute carrier family 25 (pyrimidine nucleotide carrier), member 33 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BSK2 | |
| Context | PubMed: SLC25A33 [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 |
| SLC25A33 | GO:0000002 | mitochondrial genome maintenance | 25320081 |
| SLC25A33 | GO:0006864 | pyrimidine nucleotide transport | 25320081 |
| SLC25A33 | GO:0007005 | mitochondrion organization | 25320081 |
| SLC25A33 | GO:0032869 | cellular response to insulin stimulus | 17596519 |
| SLC25A33 | GO:0051881 | regulation of mitochondrial membrane potential | 25320081 |
| SLC25A33 | GO:1990314 | cellular response to insulin-like growth factor stimulus | 17596519 |
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Exon skipping events across known transcript of Ensembl for SLC25A33 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 SLC25A33 |
| 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 SLC25A33 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_1002 | 1 | 9633403:9633470:9640011:9640292:9642356:9645237 | 9640011:9640292 | ENSG00000171612.6 | ENST00000302692.6 |
| exon_skip_982 | 1 | 9613683:9613863:9627341:9627419:9630315:9630416 | 9627341:9627419 | ENSG00000171612.6 | ENST00000302692.6 |
| exon_skip_992 | 1 | 9627341:9627419:9630315:9630416:9633403:9633470 | 9630315:9630416 | ENSG00000171612.6 | ENST00000302692.6 |
| exon_skip_998 | 1 | 9630315:9630416:9633403:9633470:9640011:9640292 | 9633403:9633470 | ENSG00000171612.6 | ENST00000302692.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC25A33 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_1002 | 1 | 9633403:9633470:9640011:9640292:9642356:9645237 | 9640011:9640292 | ENSG00000171612.6 | ENST00000302692.6 |
| exon_skip_982 | 1 | 9613683:9613863:9627341:9627419:9630315:9630416 | 9627341:9627419 | ENSG00000171612.6 | ENST00000302692.6 |
| exon_skip_992 | 1 | 9627341:9627419:9630315:9630416:9633403:9633470 | 9630315:9630416 | ENSG00000171612.6 | ENST00000302692.6 |
| exon_skip_998 | 1 | 9630315:9630416:9633403:9633470:9640011:9640292 | 9633403:9633470 | ENSG00000171612.6 | ENST00000302692.6 |
| 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 SLC25A33 |
| 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 |
| ENST00000302692 | 9630315 | 9630416 | Frame-shift |
| ENST00000302692 | 9633403 | 9633470 | Frame-shift |
| ENST00000302692 | 9640011 | 9640292 | Frame-shift |
| ENST00000302692 | 9627341 | 9627419 | 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 |
| ENST00000302692 | 9630315 | 9630416 | Frame-shift |
| ENST00000302692 | 9633403 | 9633470 | Frame-shift |
| ENST00000302692 | 9640011 | 9640292 | Frame-shift |
| ENST00000302692 | 9627341 | 9627419 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC25A33 |
| 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 |
| ENST00000302692 | 3871 | 321 | 9627341 | 9627419 | 447 | 524 | 79 | 104 |
| 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 |
| ENST00000302692 | 3871 | 321 | 9627341 | 9627419 | 447 | 524 | 79 | 104 |
| 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 |
| Q9BSK2 | 79 | 104 | 1 | 321 | Chain | ID=PRO_0000291785;Note=Solute carrier family 25 member 33 |
| Q9BSK2 | 79 | 104 | 9 | 118 | Repeat | Note=Solcar 1 |
| 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 |
| Q9BSK2 | 79 | 104 | 1 | 321 | Chain | ID=PRO_0000291785;Note=Solute carrier family 25 member 33 |
| Q9BSK2 | 79 | 104 | 9 | 118 | Repeat | Note=Solcar 1 |
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SNVs in the skipped exons for SLC25A33 |
| - 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 |
| HNSC | TCGA-F7-A624-01 | exon_skip_982 | 9627342 | 9627419 | 9627374 | 9627374 | Frame_Shift_Del | T | - | p.L90fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_1002 | 9640012 | 9640292 | 9640211 | 9640211 | Frame_Shift_Del | A | - | p.K228fs |
| COAD | TCGA-AD-6889-01 | exon_skip_1002 | 9640012 | 9640292 | 9640224 | 9640225 | Frame_Shift_Ins | - | T | p.S232fs |
| CHOL | TCGA-ZH-A8Y4-01 | exon_skip_1002 | 9640012 | 9640292 | 9640237 | 9640238 | Frame_Shift_Ins | - | A | p.G237fs |
| CHOL | TCGA-ZH-A8Y4-01 | exon_skip_1002 | 9640012 | 9640292 | 9640237 | 9640238 | Frame_Shift_Ins | - | A | p.L236fs |
| - 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 |
| EFO27_OVARY | 9640012 | 9640292 | 9640225 | 9640225 | Frame_Shift_Del | T | - | p.S232fs |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9640012 | 9640292 | 9640260 | 9640261 | Frame_Shift_Ins | - | G | p.KG244fs |
| KM12_LARGE_INTESTINE | 9627342 | 9627419 | 9627388 | 9627388 | Missense_Mutation | G | A | p.G95S |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 9633404 | 9633470 | 9633410 | 9633410 | Missense_Mutation | T | C | p.I141T |
| HCC1143_BREAST | 9633404 | 9633470 | 9633452 | 9633452 | Missense_Mutation | G | A | p.R155Q |
| NCIH1651_LUNG | 9640012 | 9640292 | 9640080 | 9640080 | Missense_Mutation | G | T | p.R184L |
| NCIH2452_PLEURA | 9640012 | 9640292 | 9640089 | 9640089 | Missense_Mutation | A | G | p.Y187C |
| OVK18_OVARY | 9640012 | 9640292 | 9640104 | 9640104 | Missense_Mutation | C | T | p.A192V |
| PACADD137_PANCREAS | 9640012 | 9640292 | 9640242 | 9640242 | Missense_Mutation | C | T | p.A238V |
| NCIH1944_LUNG | 9640012 | 9640292 | 9640272 | 9640272 | Missense_Mutation | C | T | p.S248F |
| HCT15_LARGE_INTESTINE | 9640012 | 9640292 | 9640292 | 9640292 | Splice_Site | G | T | p.E255* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A33 |
| 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 SLC25A33 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A33 |
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RelatedDrugs for SLC25A33 |
| 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 SLC25A33 |
| 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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