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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 SLC13A5 |
 Gene summary |
| Gene information | Gene symbol | SLC13A5 | Gene ID | 284111 |
| Gene name | solute carrier family 13 member 5 | |
| Synonyms | EIEE25|INDY|NACT|mIndy | |
| Cytomap | 17p13.1 | |
| Type of gene | protein-coding | |
| Description | solute carrier family 13 member 5Na(+)/citrate cotransporterNa+-coupled citrate transporter proteinsodium-dependent dicarboxylate transportersolute carrier family 13 (sodium-dependent citrate transporter), member 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86YT5 | |
| Context | PubMed: SLC13A5 [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 |
| SLC13A5 | GO:0015746 | citrate transport | 26384929 |
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Exon skipping events across known transcript of Ensembl for SLC13A5 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 SLC13A5 |
| 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 SLC13A5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_286115 | 17 | 6589415:6589657:6590847:6590985:6594097:6594203 | 6590847:6590985 | ENSG00000141485.11 | ENST00000293800.6,ENST00000381074.4,ENST00000433363.2 |
| exon_skip_286120 | 17 | 6589415:6589657:6594097:6594259:6596362:6596481 | 6594097:6594259 | ENSG00000141485.11 | ENST00000573648.1 |
| exon_skip_286122 | 17 | 6590859:6590985:6594097:6594259:6596362:6596481 | 6594097:6594259 | ENSG00000141485.11 | ENST00000293800.6,ENST00000381074.4,ENST00000433363.2 |
| exon_skip_286124 | 17 | 6597415:6597516:6599044:6599260:6604322:6604445 | 6599044:6599260 | ENSG00000141485.11 | ENST00000573648.1,ENST00000293800.6,ENST00000381074.4,ENST00000433363.2 |
| exon_skip_286125 | 17 | 6599135:6599260:6604322:6604445:6606288:6606457 | 6604322:6604445 | ENSG00000141485.11 | ENST00000573648.1,ENST00000293800.6,ENST00000381074.4,ENST00000433363.2,ENST00000572094.1,ENST00000574824.1 |
| exon_skip_286126 | 17 | 6607354:6607375:6609960:6610097:6610346:6610364 | 6609960:6610097 | ENSG00000141485.11 | ENST00000573648.1,ENST00000572352.1,ENST00000433363.2,ENST00000576323.1 |
| exon_skip_286127 | 17 | 6607354:6607375:6609960:6610097:6616550:6616678 | 6609960:6610097 | ENSG00000141485.11 | ENST00000381074.4 |
| exon_skip_286128 | 17 | 6607354:6607375:6609960:6610219:6610346:6610364 | 6609960:6610219 | ENSG00000141485.11 | ENST00000575230.1 |
| exon_skip_286132 | 17 | 6609960:6610097:6610346:6610364:6616550:6616678 | 6610346:6610364 | ENSG00000141485.11 | ENST00000572352.1 |
| exon_skip_286133 | 17 | 6609960:6610097:6610346:6610467:6616550:6616678 | 6610346:6610467 | ENSG00000141485.11 | ENST00000576323.1 |
| exon_skip_286134 | 17 | 6609960:6610097:6610346:6610475:6616550:6616678 | 6610346:6610475 | ENSG00000141485.11 | ENST00000573648.1,ENST00000293800.6 |
| exon_skip_286135 | 17 | 6609960:6610097:6610350:6610475:6616550:6616678 | 6610350:6610475 | ENSG00000141485.11 | ENST00000572094.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC13A5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_286115 | 17 | 6589415:6589657:6590847:6590985:6594097:6594203 | 6590847:6590985 | ENSG00000141485.11 | ENST00000433363.2,ENST00000293800.6,ENST00000381074.4 |
| exon_skip_286120 | 17 | 6589415:6589657:6594097:6594259:6596362:6596481 | 6594097:6594259 | ENSG00000141485.11 | ENST00000573648.1 |
| exon_skip_286122 | 17 | 6590859:6590985:6594097:6594259:6596362:6596481 | 6594097:6594259 | ENSG00000141485.11 | ENST00000433363.2,ENST00000293800.6,ENST00000381074.4 |
| exon_skip_286124 | 17 | 6597415:6597516:6599044:6599260:6604322:6604445 | 6599044:6599260 | ENSG00000141485.11 | ENST00000433363.2,ENST00000293800.6,ENST00000381074.4,ENST00000573648.1 |
| exon_skip_286125 | 17 | 6599135:6599260:6604322:6604445:6606288:6606457 | 6604322:6604445 | ENSG00000141485.11 | ENST00000433363.2,ENST00000293800.6,ENST00000381074.4,ENST00000573648.1,ENST00000574824.1,ENST00000572094.1 |
| exon_skip_286126 | 17 | 6607354:6607375:6609960:6610097:6610346:6610364 | 6609960:6610097 | ENSG00000141485.11 | ENST00000433363.2,ENST00000573648.1,ENST00000572352.1,ENST00000576323.1 |
| exon_skip_286127 | 17 | 6607354:6607375:6609960:6610097:6616550:6616678 | 6609960:6610097 | ENSG00000141485.11 | ENST00000381074.4 |
| exon_skip_286128 | 17 | 6607354:6607375:6609960:6610219:6610346:6610364 | 6609960:6610219 | ENSG00000141485.11 | ENST00000575230.1 |
| exon_skip_286132 | 17 | 6609960:6610097:6610346:6610364:6616550:6616678 | 6610346:6610364 | ENSG00000141485.11 | ENST00000572352.1 |
| exon_skip_286133 | 17 | 6609960:6610097:6610346:6610467:6616550:6616678 | 6610346:6610467 | ENSG00000141485.11 | ENST00000576323.1 |
| exon_skip_286134 | 17 | 6609960:6610097:6610346:6610475:6616550:6616678 | 6610346:6610475 | ENSG00000141485.11 | ENST00000293800.6,ENST00000573648.1 |
| exon_skip_286135 | 17 | 6609960:6610097:6610350:6610475:6616550:6616678 | 6610350:6610475 | ENSG00000141485.11 | ENST00000572094.1 |
| 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 SLC13A5 |
| 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 |
| ENST00000433363 | 6609960 | 6610097 | Frame-shift |
| ENST00000433363 | 6590847 | 6590985 | In-frame |
| ENST00000433363 | 6594097 | 6594259 | In-frame |
| ENST00000433363 | 6599044 | 6599260 | In-frame |
| ENST00000433363 | 6604322 | 6604445 | 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 |
| ENST00000433363 | 6609960 | 6610097 | Frame-shift |
| ENST00000433363 | 6590847 | 6590985 | In-frame |
| ENST00000433363 | 6594097 | 6594259 | In-frame |
| ENST00000433363 | 6599044 | 6599260 | In-frame |
| ENST00000433363 | 6604322 | 6604445 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC13A5 |
| 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 |
| ENST00000433363 | 3452 | 568 | 6604322 | 6604445 | 951 | 1073 | 239 | 279 |
| ENST00000433363 | 3452 | 568 | 6599044 | 6599260 | 1074 | 1289 | 280 | 351 |
| ENST00000433363 | 3452 | 568 | 6594097 | 6594259 | 1510 | 1671 | 425 | 479 |
| ENST00000433363 | 3452 | 568 | 6590847 | 6590985 | 1672 | 1809 | 479 | 525 |
| 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 |
| ENST00000433363 | 3452 | 568 | 6604322 | 6604445 | 951 | 1073 | 239 | 279 |
| ENST00000433363 | 3452 | 568 | 6599044 | 6599260 | 1074 | 1289 | 280 | 351 |
| ENST00000433363 | 3452 | 568 | 6594097 | 6594259 | 1510 | 1671 | 425 | 479 |
| ENST00000433363 | 3452 | 568 | 6590847 | 6590985 | 1672 | 1809 | 479 | 525 |
| 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 |
| Q86YT5 | 239 | 279 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 239 | 279 | 269 | 269 | Sequence conflict | Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86YT5 | 239 | 279 | 252 | 272 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 280 | 351 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 280 | 351 | 341 | 568 | Natural variant | ID=VAR_078915;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=PMID:26384929 |
| Q86YT5 | 280 | 351 | 330 | 330 | Sequence conflict | Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86YT5 | 280 | 351 | 311 | 331 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 425 | 479 | 479 | 524 | Alternative sequence | ID=VSP_043098;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86YT5 | 425 | 479 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 425 | 479 | 341 | 568 | Natural variant | ID=VAR_078915;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=PMID:26384929 |
| Q86YT5 | 425 | 479 | 427 | 427 | Natural variant | ID=VAR_078916;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=dbSNP:rs548065551,PMID:26384929 |
| Q86YT5 | 425 | 479 | 475 | 475 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86YT5 | 425 | 479 | 406 | 426 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 425 | 479 | 439 | 459 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 479 | 525 | 479 | 524 | Alternative sequence | ID=VSP_043098;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86YT5 | 479 | 525 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 479 | 525 | 341 | 568 | Natural variant | ID=VAR_078915;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=PMID:26384929 |
| Q86YT5 | 479 | 525 | 488 | 488 | Natural variant | ID=VAR_078917;Note=In EIEE25. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24995870;Dbxref=dbSNP:rs587777578,PMID:24995870 |
| Q86YT5 | 479 | 525 | 524 | 524 | Natural variant | ID=VAR_078918;Note=In EIEE25%3B loss of function in citrate transport%3B no effect on localization to plasma membrane. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=dbSNP:rs863225448,PMID:26384929 |
| Q86YT5 | 479 | 525 | 487 | 507 | Transmembrane | Note=Helical;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 |
| Q86YT5 | 239 | 279 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 239 | 279 | 269 | 269 | Sequence conflict | Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86YT5 | 239 | 279 | 252 | 272 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 280 | 351 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 280 | 351 | 341 | 568 | Natural variant | ID=VAR_078915;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=PMID:26384929 |
| Q86YT5 | 280 | 351 | 330 | 330 | Sequence conflict | Note=W->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86YT5 | 280 | 351 | 311 | 331 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 425 | 479 | 479 | 524 | Alternative sequence | ID=VSP_043098;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86YT5 | 425 | 479 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 425 | 479 | 341 | 568 | Natural variant | ID=VAR_078915;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=PMID:26384929 |
| Q86YT5 | 425 | 479 | 427 | 427 | Natural variant | ID=VAR_078916;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=dbSNP:rs548065551,PMID:26384929 |
| Q86YT5 | 425 | 479 | 475 | 475 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q86YT5 | 425 | 479 | 406 | 426 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 425 | 479 | 439 | 459 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YT5 | 479 | 525 | 479 | 524 | Alternative sequence | ID=VSP_043098;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q86YT5 | 479 | 525 | 1 | 568 | Chain | ID=PRO_0000260101;Note=Solute carrier family 13 member 5 |
| Q86YT5 | 479 | 525 | 341 | 568 | Natural variant | ID=VAR_078915;Note=In EIEE25%3B loss of localization to plasma membrane%3B loss of function in citrate transport. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=PMID:26384929 |
| Q86YT5 | 479 | 525 | 488 | 488 | Natural variant | ID=VAR_078917;Note=In EIEE25. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24995870;Dbxref=dbSNP:rs587777578,PMID:24995870 |
| Q86YT5 | 479 | 525 | 524 | 524 | Natural variant | ID=VAR_078918;Note=In EIEE25%3B loss of function in citrate transport%3B no effect on localization to plasma membrane. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:26384929;Dbxref=dbSNP:rs863225448,PMID:26384929 |
| Q86YT5 | 479 | 525 | 487 | 507 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC13A5 |
| - 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_286122 exon_skip_286120 | 6594098 | 6594259 | 6594201 | 6594201 | Frame_Shift_Del | G | - | p.P445fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_286124 | 6599045 | 6599260 | 6599181 | 6599181 | Frame_Shift_Del | G | - | p.R307fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_286124 | 6599045 | 6599260 | 6599236 | 6599236 | Frame_Shift_Del | C | - | p.G288fs |
| BRCA | TCGA-B6-A0X5-01 | exon_skip_286115 | 6590848 | 6590985 | 6590917 | 6590918 | Frame_Shift_Ins | - | A | p.M503fs |
| SKCM | TCGA-EE-A2GN-06 | exon_skip_286125 | 6604323 | 6604445 | 6604350 | 6604350 | Nonsense_Mutation | C | T | p.W271* |
| UVM | TCGA-VD-AA8P-01 | exon_skip_286122 exon_skip_286120 | 6594098 | 6594259 | 6594096 | 6594096 | Splice_Site | A | T | . |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_286122 exon_skip_286120 | 6594098 | 6594259 | 6594260 | 6594260 | Splice_Site | C | T | . |
| - 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 |
| EN_ENDOMETRIUM | 6594098 | 6594259 | 6594216 | 6594216 | Frame_Shift_Del | A | - | p.L440fs |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6590848 | 6590985 | 6590946 | 6590946 | Missense_Mutation | G | A | p.P493S |
| NCIH2110_LUNG | 6590848 | 6590985 | 6590964 | 6590964 | Missense_Mutation | G | T | p.P487T |
| UMUC3_URINARY_TRACT | 6590848 | 6590985 | 6590976 | 6590976 | Missense_Mutation | T | C | p.I483V |
| LU134A_LUNG | 6594098 | 6594259 | 6594129 | 6594129 | Missense_Mutation | G | C | p.T469S |
| NCIH2342_LUNG | 6594098 | 6594259 | 6594152 | 6594152 | Missense_Mutation | C | G | p.E461D |
| SNU1040_LARGE_INTESTINE | 6594098 | 6594259 | 6594250 | 6594250 | Missense_Mutation | G | T | p.L429M |
| GP5D_LARGE_INTESTINE | 6599045 | 6599260 | 6599057 | 6599057 | Missense_Mutation | T | A | p.E348V |
| SNU1040_LARGE_INTESTINE | 6599045 | 6599260 | 6599145 | 6599145 | Missense_Mutation | C | T | p.V319M |
| NCIH2286_LUNG | 6599045 | 6599260 | 6599172 | 6599172 | Missense_Mutation | C | A | p.G310W |
| LS411N_LARGE_INTESTINE | 6609961 | 6610097 | 6609965 | 6609965 | Missense_Mutation | C | T | p.A122T |
| LS411N_LARGE_INTESTINE | 6609961 | 6610219 | 6609965 | 6609965 | Missense_Mutation | C | T | p.A122T |
| EKVX_LUNG | 6609961 | 6610097 | 6609969 | 6609969 | Missense_Mutation | C | A | p.K120N |
| EKVX_LUNG | 6609961 | 6610219 | 6609969 | 6609969 | Missense_Mutation | C | A | p.K120N |
| MKN74_STOMACH | 6609961 | 6610097 | 6609991 | 6609991 | Missense_Mutation | G | A | p.T113M |
| MKN74_STOMACH | 6609961 | 6610219 | 6609991 | 6609991 | Missense_Mutation | G | A | p.T113M |
| UMC11_LUNG | 6609961 | 6610097 | 6609994 | 6609994 | Missense_Mutation | C | A | p.R112L |
| UMC11_LUNG | 6609961 | 6610219 | 6609994 | 6609994 | Missense_Mutation | C | A | p.R112L |
| SNU407_LARGE_INTESTINE | 6609961 | 6610097 | 6610001 | 6610001 | Missense_Mutation | C | T | p.A110T |
| SNU407_LARGE_INTESTINE | 6609961 | 6610219 | 6610001 | 6610001 | Missense_Mutation | C | T | p.A110T |
| NCIH650_LUNG | 6609961 | 6610097 | 6610008 | 6610008 | Missense_Mutation | C | G | p.K107N |
| NCIH650_LUNG | 6609961 | 6610219 | 6610008 | 6610008 | Missense_Mutation | C | G | p.K107N |
| HEC108_ENDOMETRIUM | 6609961 | 6610097 | 6610072 | 6610072 | Missense_Mutation | G | A | p.T86I |
| HEC108_ENDOMETRIUM | 6609961 | 6610219 | 6610072 | 6610072 | Missense_Mutation | G | A | p.T86I |
| JHUEM7_ENDOMETRIUM | 6609961 | 6610097 | 6610080 | 6610080 | Missense_Mutation | C | A | p.M83I |
| JHUEM7_ENDOMETRIUM | 6609961 | 6610219 | 6610080 | 6610080 | Missense_Mutation | C | A | p.M83I |
| SNU719_STOMACH | 6610347 | 6610467 | 6610387 | 6610387 | Missense_Mutation | A | G | p.V64A |
| SNU719_STOMACH | 6610351 | 6610475 | 6610387 | 6610387 | Missense_Mutation | A | G | p.V64A |
| SNU719_STOMACH | 6610347 | 6610475 | 6610387 | 6610387 | Missense_Mutation | A | G | p.V64A |
| SN12C_KIDNEY | 6599045 | 6599260 | 6599239 | 6599239 | Nonsense_Mutation | G | T | p.C287* |
| JHUEM7_ENDOMETRIUM | 6609961 | 6610097 | 6609961 | 6609961 | Splice_Site | C | T | p.R123Q |
| JHUEM7_ENDOMETRIUM | 6609961 | 6610219 | 6609961 | 6609961 | Splice_Site | C | T | p.R123Q |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6609961 | 6610097 | 6609962 | 6609962 | Splice_Site | G | A | p.R123W |
| ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6609961 | 6610219 | 6609962 | 6609962 | Splice_Site | G | A | p.R123W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC13A5 |
| 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 SLC13A5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC13A5 |
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RelatedDrugs for SLC13A5 |
| 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 SLC13A5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC13A5 | C0015695 | Fatty Liver | 1 | CTD_human |
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