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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 SLC25A47 |
 Gene summary |
| Gene information | Gene symbol | SLC25A47 | Gene ID | 283600 |
| Gene name | solute carrier family 25 member 47 | |
| Synonyms | C14orf68|HDMCP|HMFN1655 | |
| Cytomap | 14q32.2 | |
| Type of gene | protein-coding | |
| Description | solute carrier family 25 member 47HCC-down-regulated mitochondrial carrier proteinhepatocellular carcinoma down-regulated mitochondrial carrier proteinhepatocellular carcinoma-downregulated mitochondrial carrier protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q6Q0C1 | |
| Context | PubMed: SLC25A47 [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 SLC25A47 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 SLC25A47 |
| 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 SLC25A47 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109954 | 14 | 100792498:100792565:100793524:100793707:100795062:100795381 | 100793524:100793707 | ENSG00000140107.10 | ENST00000557052.1,ENST00000361529.3 |
| exon_skip_109957 | 14 | 100793524:100793707:100795062:100795381:100795701:100796473 | 100795062:100795381 | ENSG00000140107.10 | ENST00000557052.1,ENST00000361529.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC25A47 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109954 | 14 | 100792498:100792565:100793524:100793707:100795062:100795381 | 100793524:100793707 | ENSG00000140107.10 | ENST00000361529.3,ENST00000557052.1 |
| exon_skip_109957 | 14 | 100793524:100793707:100795062:100795381:100795701:100796473 | 100795062:100795381 | ENSG00000140107.10 | ENST00000361529.3,ENST00000557052.1 |
| 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 SLC25A47 |
| 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 |
| ENST00000361529 | 100795062 | 100795381 | Frame-shift |
| ENST00000361529 | 100793524 | 100793707 | 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 |
| ENST00000361529 | 100795062 | 100795381 | Frame-shift |
| ENST00000361529 | 100793524 | 100793707 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC25A47 |
| 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 |
| ENST00000361529 | 1755 | 308 | 100793524 | 100793707 | 223 | 405 | 48 | 109 |
| 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 |
| ENST00000361529 | 1755 | 308 | 100793524 | 100793707 | 223 | 405 | 48 | 109 |
| 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 |
| Q6Q0C1 | 48 | 109 | 31 | 308 | Alternative sequence | ID=VSP_026234;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15221005,ECO:0000303|PubMed:15322095;Dbxref=PMID:15221005,PMID:15322095 |
| Q6Q0C1 | 48 | 109 | 1 | 308 | Chain | ID=PRO_0000291779;Note=Solute carrier family 25 member 47 |
| Q6Q0C1 | 48 | 109 | 1 | 80 | Repeat | Note=Solcar 1 |
| Q6Q0C1 | 48 | 109 | 93 | 206 | Repeat | Note=Solcar 2 |
| Q6Q0C1 | 48 | 109 | 49 | 69 | Transmembrane | Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6Q0C1 | 48 | 109 | 98 | 116 | Transmembrane | Note=Helical%3B Name%3D3;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 |
| Q6Q0C1 | 48 | 109 | 31 | 308 | Alternative sequence | ID=VSP_026234;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15221005,ECO:0000303|PubMed:15322095;Dbxref=PMID:15221005,PMID:15322095 |
| Q6Q0C1 | 48 | 109 | 1 | 308 | Chain | ID=PRO_0000291779;Note=Solute carrier family 25 member 47 |
| Q6Q0C1 | 48 | 109 | 1 | 80 | Repeat | Note=Solcar 1 |
| Q6Q0C1 | 48 | 109 | 93 | 206 | Repeat | Note=Solcar 2 |
| Q6Q0C1 | 48 | 109 | 49 | 69 | Transmembrane | Note=Helical%3B Name%3D2;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6Q0C1 | 48 | 109 | 98 | 116 | Transmembrane | Note=Helical%3B Name%3D3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC25A47 |
| - 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_109957 | 100795063 | 100795381 | 100795089 | 100795089 | Frame_Shift_Del | G | - | p.V118fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_109957 | 100795063 | 100795381 | 100795161 | 100795161 | Frame_Shift_Del | G | - | p.L142fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_109957 | 100795063 | 100795381 | 100795168 | 100795168 | Frame_Shift_Del | C | - | p.P146fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_109957 | 100795063 | 100795381 | 100795186 | 100795186 | Frame_Shift_Del | C | - | p.P152fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_109957 | 100795063 | 100795381 | 100795092 | 100795093 | Frame_Shift_Ins | - | A | p.S120fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_109957 | 100795063 | 100795381 | 100795092 | 100795093 | Frame_Shift_Ins | - | A | p.V120fs |
| LUAD | TCGA-50-6590-01 | exon_skip_109957 | 100795063 | 100795381 | 100795348 | 100795348 | Nonsense_Mutation | G | T | p.E205* |
| LUSC | TCGA-22-1011-01 | exon_skip_109954 | 100793525 | 100793707 | 100793708 | 100793708 | Splice_Site | G | A | p.R109_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 |
| LOVO_LARGE_INTESTINE | 100793525 | 100793707 | 100793532 | 100793532 | Missense_Mutation | G | A | p.G51D |
| HCC827GR5_LUNG | 100793525 | 100793707 | 100793540 | 100793540 | Missense_Mutation | C | T | p.R54W |
| HCC827_LUNG | 100793525 | 100793707 | 100793540 | 100793540 | Missense_Mutation | C | T | p.R54W |
| RMGI_OVARY | 100793525 | 100793707 | 100793550 | 100793550 | Missense_Mutation | C | G | p.S57W |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100793525 | 100793707 | 100793550 | 100793550 | Missense_Mutation | C | G | p.S57W |
| TASK1_CENTRAL_NERVOUS_SYSTEM | 100793525 | 100793707 | 100793550 | 100793550 | Missense_Mutation | C | G | p.S57W |
| KG1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100793525 | 100793707 | 100793553 | 100793553 | Missense_Mutation | T | C | p.L58P |
| UMUC6_URINARY_TRACT | 100793525 | 100793707 | 100793558 | 100793558 | Missense_Mutation | G | A | p.V60M |
| SKMEL3_SKIN | 100793525 | 100793707 | 100793571 | 100793571 | Missense_Mutation | C | T | p.S64F |
| KMBC2_URINARY_TRACT | 100793525 | 100793707 | 100793646 | 100793646 | Missense_Mutation | C | T | p.P89L |
| TOV21G_OVARY | 100795063 | 100795381 | 100795120 | 100795120 | Missense_Mutation | G | T | p.A129S |
| RL952_ENDOMETRIUM | 100795063 | 100795381 | 100795176 | 100795176 | Missense_Mutation | G | A | p.M147I |
| C10_LARGE_INTESTINE | 100795063 | 100795381 | 100795283 | 100795283 | Missense_Mutation | C | T | p.S183L |
| H4_CENTRAL_NERVOUS_SYSTEM | 100795063 | 100795381 | 100795286 | 100795286 | Missense_Mutation | C | T | p.A184V |
| SNUC4_LARGE_INTESTINE | 100795063 | 100795381 | 100795319 | 100795319 | Missense_Mutation | C | T | p.T195I |
| SCC25_UPPER_AERODIGESTIVE_TRACT | 100795063 | 100795381 | 100795376 | 100795376 | Missense_Mutation | G | C | p.R214P |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100795063 | 100795381 | 100795123 | 100795123 | Nonsense_Mutation | C | T | p.Q130* |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100795063 | 100795381 | 100795283 | 100795283 | Nonsense_Mutation | C | A | p.S183* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC25A47 |
| 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 SLC25A47 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC25A47 |
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RelatedDrugs for SLC25A47 |
| 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 SLC25A47 |
| 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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