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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 SLC5A5 |
 Gene summary |
| Gene information | Gene symbol | SLC5A5 | Gene ID | 6528 |
| Gene name | solute carrier family 5 member 5 | |
| Synonyms | NIS|TDH1 | |
| Cytomap | 19p13.11 | |
| Type of gene | protein-coding | |
| Description | sodium/iodide cotransporterNa(+)/I(-) cotransporterNa(+)/I(-) symportersolute carrier family 5 (sodium iodide symporter), member 5solute carrier family 5 (sodium/iodide cotransporter), member 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q92911 | |
| Context | PubMed: SLC5A5 [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 SLC5A5 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 SLC5A5 |
| 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 SLC5A5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303708 | 19 | 17985472:17985540:17986760:17986915:17988531:17988672 | 17986760:17986915 | ENSG00000105641.3 | ENST00000222248.3 |
| exon_skip_303709 | 19 | 17986760:17986915:17988531:17988672:17988772:17988902 | 17988531:17988672 | ENSG00000105641.3 | ENST00000222248.3 |
| exon_skip_303711 | 19 | 17988772:17988902:17991673:17991762:17992768:17992881 | 17991673:17991762 | ENSG00000105641.3 | ENST00000222248.3 |
| exon_skip_303713 | 19 | 17999139:17999264:18001694:18001810:18004521:18005983 | 18001694:18001810 | ENSG00000105641.3 | ENST00000222248.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC5A5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303708 | 19 | 17985472:17985540:17986760:17986915:17988531:17988672 | 17986760:17986915 | ENSG00000105641.3 | ENST00000222248.3 |
| exon_skip_303709 | 19 | 17986760:17986915:17988531:17988672:17988772:17988902 | 17988531:17988672 | ENSG00000105641.3 | ENST00000222248.3 |
| exon_skip_303711 | 19 | 17988772:17988902:17991673:17991762:17992768:17992881 | 17991673:17991762 | ENSG00000105641.3 | ENST00000222248.3 |
| exon_skip_303713 | 19 | 17999139:17999264:18001694:18001810:18004521:18005983 | 18001694:18001810 | ENSG00000105641.3 | ENST00000222248.3 |
| 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 SLC5A5 |
| 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 |
| ENST00000222248 | 17986760 | 17986915 | Frame-shift |
| ENST00000222248 | 17991673 | 17991762 | Frame-shift |
| ENST00000222248 | 18001694 | 18001810 | Frame-shift |
| ENST00000222248 | 17988531 | 17988672 | 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 |
| ENST00000222248 | 17986760 | 17986915 | Frame-shift |
| ENST00000222248 | 17991673 | 17991762 | Frame-shift |
| ENST00000222248 | 18001694 | 18001810 | Frame-shift |
| ENST00000222248 | 17988531 | 17988672 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC5A5 |
| 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 |
| ENST00000222248 | 3593 | 643 | 17988531 | 17988672 | 1046 | 1186 | 233 | 279 |
| 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 |
| ENST00000222248 | 3593 | 643 | 17988531 | 17988672 | 1046 | 1186 | 233 | 279 |
| 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 |
| Q92911 | 233 | 279 | 1 | 643 | Chain | ID=PRO_0000105383;Note=Sodium/iodide cotransporter |
| Q92911 | 233 | 279 | 267 | 267 | Natural variant | ID=VAR_010265;Note=In TDH1. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9486973;Dbxref=dbSNP:rs121909176,PMID:9486973 |
| Q92911 | 233 | 279 | 208 | 241 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92911 | 233 | 279 | 263 | 286 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92911 | 233 | 279 | 242 | 262 | 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 |
| Q92911 | 233 | 279 | 1 | 643 | Chain | ID=PRO_0000105383;Note=Sodium/iodide cotransporter |
| Q92911 | 233 | 279 | 267 | 267 | Natural variant | ID=VAR_010265;Note=In TDH1. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9486973;Dbxref=dbSNP:rs121909176,PMID:9486973 |
| Q92911 | 233 | 279 | 208 | 241 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92911 | 233 | 279 | 263 | 286 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92911 | 233 | 279 | 242 | 262 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC5A5 |
| - 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-A39Y-01 | exon_skip_303708 | 17986761 | 17986915 | 17986863 | 17986863 | Frame_Shift_Del | C | - | p.P216fs |
| UCEC | TCGA-D1-A17A-01 | exon_skip_303708 | 17986761 | 17986915 | 17986863 | 17986863 | Frame_Shift_Del | C | - | p.P216fs |
| KIRC | TCGA-B0-4698-01 | exon_skip_303709 | 17988532 | 17988672 | 17988546 | 17988547 | Frame_Shift_Ins | - | G | p.P238fs |
| - 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 |
| GMEL_SKIN | 17986761 | 17986915 | 17986839 | 17986839 | Missense_Mutation | C | T | p.R208C |
| SF295_CENTRAL_NERVOUS_SYSTEM | 17986761 | 17986915 | 17986852 | 17986852 | Missense_Mutation | T | C | p.L212P |
| EN_ENDOMETRIUM | 17986761 | 17986915 | 17986913 | 17986913 | Missense_Mutation | G | T | p.M232I |
| CP67MEL_SKIN | 17988532 | 17988672 | 17988611 | 17988611 | Missense_Mutation | G | A | p.G260S |
| HEC151_ENDOMETRIUM | 17988532 | 17988672 | 17988612 | 17988612 | Missense_Mutation | G | A | p.G260D |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17988532 | 17988672 | 17988636 | 17988636 | Missense_Mutation | G | A | p.R268H |
| 639V_URINARY_TRACT | 17991674 | 17991762 | 17991689 | 17991689 | Missense_Mutation | G | A | p.V329M |
| NCIH1876_LUNG | 17991674 | 17991762 | 17991695 | 17991695 | Missense_Mutation | G | T | p.D331Y |
| KMRC1_KIDNEY | 17991674 | 17991762 | 17991699 | 17991699 | Missense_Mutation | T | C | p.I332T |
| SNU324_PANCREAS | 17991674 | 17991762 | 17991704 | 17991704 | Missense_Mutation | G | A | p.E334K |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 17991674 | 17991762 | 17991722 | 17991722 | Missense_Mutation | C | T | p.P340S |
| HCC15_LUNG | 17991674 | 17991762 | 17991740 | 17991740 | Missense_Mutation | T | A | p.C346S |
| OACM51_OESOPHAGUS | 18001695 | 18001810 | 18001748 | 18001748 | Missense_Mutation | C | T | p.R569W |
| MCC13_SKIN | 18001695 | 18001810 | 18001792 | 18001793 | Missense_Mutation | GG | AA | p.D584N |
| MCC13_SKIN | 18001695 | 18001810 | 18001793 | 18001793 | Missense_Mutation | G | A | p.D584N |
| OCUM1_STOMACH | 18001695 | 18001810 | 18001696 | 18001696 | Splice_Site | C | T | p.G551G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC5A5 |
| 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 SLC5A5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC5A5 |
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RelatedDrugs for SLC5A5 |
| 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 |
| Q92911 | DB09418 | Potassium perchlorate | Sodium/iodide cotransporter | small molecule | approved|investigational |
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RelatedDiseases for SLC5A5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC5A5 | C1848805 | Thyroid Dyshormonogenesis 1 | 3 | CTD_human;ORPHANET;UNIPROT |
| SLC5A5 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| SLC5A5 | C0040136 | Thyroid Neoplasm | 2 | CTD_human |
| SLC5A5 | C2239176 | Liver carcinoma | 2 | CTD_human |
| SLC5A5 | C0017638 | Glioma | 1 | CTD_human |
| SLC5A5 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| SLC5A5 | C0025202 | melanoma | 1 | CTD_human |
| SLC5A5 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| SLC5A5 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| SLC5A5 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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