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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 SLC25A32 |
 Gene summary |
| Gene information | Gene symbol | SLC25A32 | Gene ID | 81034 |
| Gene name | solute carrier family 25 member 32 | |
| Synonyms | MFT|MFTC|RREI | |
| Cytomap | 8q22.3 | |
| Type of gene | protein-coding | |
| Description | mitochondrial folate transporter/carriersolute carrier family 25 (mitochondrial folate carrier), member 32 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H2D1 | |
| Context | PubMed: SLC25A32 [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 SLC25A32 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 SLC25A32 |
| 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 SLC25A32 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_491746 | 8 | 104412285:104412774:104413743:104413889:104414168:104414282 | 104413743:104413889 | ENSG00000164933.7 | ENST00000297578.4,ENST00000521645.1,ENST00000523866.1,ENST00000523256.2,ENST00000543107.1 |
| exon_skip_491749 | 8 | 104414168:104414282:104415391:104415552:104417003:104417089 | 104415391:104415552 | ENSG00000164933.7 | ENST00000297578.4 |
| exon_skip_491750 | 8 | 104414168:104414282:104415391:104415552:104419861:104420012 | 104415391:104415552 | ENSG00000164933.7 | ENST00000523866.1,ENST00000543107.1 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENSG00000164933.7 | ENST00000521645.1 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENSG00000164933.7 | ENST00000297578.4 |
| exon_skip_491758 | 8 | 104415391:104415552:104419861:104420012:104427011:104427297 | 104419861:104420012 | ENSG00000164933.7 | ENST00000523866.1,ENST00000543107.1 |
| exon_skip_491759 | 8 | 104417003:104417089:104419861:104420012:104427011:104427297 | 104419861:104420012 | ENSG00000164933.7 | ENST00000521645.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC25A32 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_491746 | 8 | 104412285:104412774:104413743:104413889:104414168:104414282 | 104413743:104413889 | ENSG00000164933.7 | ENST00000297578.4,ENST00000523256.2,ENST00000521645.1,ENST00000523866.1,ENST00000543107.1 |
| exon_skip_491749 | 8 | 104414168:104414282:104415391:104415552:104417003:104417089 | 104415391:104415552 | ENSG00000164933.7 | ENST00000297578.4 |
| exon_skip_491750 | 8 | 104414168:104414282:104415391:104415552:104419861:104420012 | 104415391:104415552 | ENSG00000164933.7 | ENST00000523866.1,ENST00000543107.1 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENSG00000164933.7 | ENST00000521645.1 |
| exon_skip_491754 | 8 | 104414168:104414282:104419861:104420012:104427011:104427297 | 104419861:104420012 | ENSG00000164933.7 | ENST00000523256.2 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENSG00000164933.7 | ENST00000297578.4 |
| exon_skip_491758 | 8 | 104415391:104415552:104419861:104420012:104427011:104427297 | 104419861:104420012 | ENSG00000164933.7 | ENST00000523866.1,ENST00000543107.1 |
| exon_skip_491759 | 8 | 104417003:104417089:104419861:104420012:104427011:104427297 | 104419861:104420012 | ENSG00000164933.7 | ENST00000521645.1 |
| 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 SLC25A32 |
| 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 |
| ENST00000297578 | 104413743 | 104413889 | Frame-shift |
| ENST00000297578 | 104415391 | 104415552 | Frame-shift |
| ENST00000297578 | 104417003 | 104417089 | 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 |
| ENST00000297578 | 104413743 | 104413889 | Frame-shift |
| ENST00000297578 | 104415391 | 104415552 | Frame-shift |
| ENST00000297578 | 104417003 | 104417089 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SLC25A32 |
| 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 SLC25A32 |
| - 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-G3-A3CJ-01 | exon_skip_491746 | 104413744 | 104413889 | 104413753 | 104413753 | Frame_Shift_Del | T | - | p.K268fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_491746 | 104413744 | 104413889 | 104413781 | 104413781 | Frame_Shift_Del | A | - | p.Y259fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_491746 | 104413744 | 104413889 | 104413850 | 104413850 | Frame_Shift_Del | T | - | p.I236fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_491750 exon_skip_491749 | 104415392 | 104415552 | 104415468 | 104415468 | Frame_Shift_Del | G | - | p.P159fs |
| HNSC | TCGA-UF-A7JJ-01 | exon_skip_491759 exon_skip_491758 | 104419862 | 104420012 | 104419870 | 104419870 | Nonsense_Mutation | G | T | p.Y99* |
| LUAD | TCGA-78-7161-01 | exon_skip_491759 exon_skip_491758 | 104419862 | 104420012 | 104420013 | 104420013 | Splice_Site | C | A | p.V52_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 |
| SNU407_LARGE_INTESTINE | 104419862 | 104420012 | 104419877 | 104419877 | Frame_Shift_Del | C | - | p.G97fs |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104413744 | 104413889 | 104413826 | 104413826 | Missense_Mutation | G | T | p.P244T |
| NCIH1573_LUNG | 104413744 | 104413889 | 104413832 | 104413832 | Missense_Mutation | T | A | p.T242S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104413744 | 104413889 | 104413838 | 104413838 | Missense_Mutation | C | T | p.A240T |
| SNU1040_LARGE_INTESTINE | 104413744 | 104413889 | 104413838 | 104413838 | Missense_Mutation | C | T | p.A240T |
| RCCAB_KIDNEY | 104415392 | 104415552 | 104415406 | 104415406 | Missense_Mutation | G | A | p.R180C |
| NCIH441_LUNG | 104415392 | 104415552 | 104415545 | 104415545 | Missense_Mutation | C | A | p.M133I |
| EBC1_LUNG | 104417004 | 104417089 | 104417061 | 104417061 | Missense_Mutation | C | T | p.E112K |
| AM38_CENTRAL_NERVOUS_SYSTEM | 104417004 | 104417089 | 104417085 | 104417085 | Missense_Mutation | T | C | p.N104D |
| M14_SKIN | 104419862 | 104420012 | 104419908 | 104419908 | Missense_Mutation | G | A | p.P87S |
| MDAMB435S_SKIN | 104419862 | 104420012 | 104419908 | 104419908 | Missense_Mutation | G | A | p.P87S |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 104419862 | 104420012 | 104419916 | 104419916 | Missense_Mutation | C | T | p.G84E |
| HEC50B_ENDOMETRIUM | 104419862 | 104420012 | 104419923 | 104419923 | Missense_Mutation | A | C | p.Y82D |
| NCIH211_LUNG | 104419862 | 104420012 | 104419948 | 104419948 | Missense_Mutation | C | A | p.W73C |
| NCIH187_LUNG | 104413744 | 104413889 | 104413820 | 104413820 | Nonsense_Mutation | G | A | p.Q246* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A32 |
| 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_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000297578.4 | HNSC | rs17803441 | chr8:104417045 | C/T | 1.02e-04 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000297578.4 | KIRC | rs17803441 | chr8:104417045 | C/T | 6.17e-04 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000297578.4 | LUAD | rs17803441 | chr8:104417045 | C/T | 1.22e-04 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000297578.4 | LUSC | rs17803441 | chr8:104417045 | C/T | 3.80e-10 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000297578.4 | SARC | rs17803441 | chr8:104417045 | C/T | 1.16e-04 |
| exon_skip_491756 | 8 | 104415391:104415552:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000297578.4 | THCA | rs17803441 | chr8:104417045 | C/T | 1.72e-03 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000521645.1 | HNSC | rs17803441 | chr8:104417045 | C/T | 1.02e-04 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000521645.1 | KIRC | rs17803441 | chr8:104417045 | C/T | 6.17e-04 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000521645.1 | LUAD | rs17803441 | chr8:104417045 | C/T | 1.22e-04 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000521645.1 | LUSC | rs17803441 | chr8:104417045 | C/T | 3.80e-10 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000521645.1 | SARC | rs17803441 | chr8:104417045 | C/T | 1.16e-04 |
| exon_skip_491752 | 8 | 104414168:104414282:104417003:104417089:104419861:104420012 | 104417003:104417089 | ENST00000521645.1 | THCA | rs17803441 | chr8:104417045 | C/T | 1.72e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A32 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A32 |
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RelatedDrugs for SLC25A32 |
| 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 SLC25A32 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC25A32 | C4225187 | EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE | 1 | UNIPROT |
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