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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 SLC35D1 |
 Gene summary |
| Gene information | Gene symbol | SLC35D1 | Gene ID | 23169 |
| Gene name | solute carrier family 35 member D1 | |
| Synonyms | SHNKND|UGTREL7 | |
| Cytomap | 1p31.3 | |
| Type of gene | protein-coding | |
| Description | UDP-glucuronic acid/UDP-N-acetylgalactosamine transporterUDP-GlcA/UDP-GalNAc transporterUDP-galactose transporter-related 7UDP-galactose transporter-related protein 7solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1solute carrier | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NTN3 | |
| Context | PubMed: SLC35D1 [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 SLC35D1 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 SLC35D1 |
| 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 SLC35D1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_27703 | 1 | 67465014:67470131:67474767:67474850:67486051:67486130 | 67474767:67474850 | ENSG00000116704.6 | ENST00000235345.5 |
| exon_skip_27705 | 1 | 67487217:67487285:67507918:67508011:67512947:67513050 | 67507918:67508011 | ENSG00000116704.6 | ENST00000235345.5,ENST00000506472.2 |
| exon_skip_27706 | 1 | 67512947:67513050:67515464:67515533:67516115:67516187 | 67515464:67515533 | ENSG00000116704.6 | ENST00000235345.5,ENST00000506472.2 |
| exon_skip_27708 | 1 | 67516115:67516187:67517694:67517762:67518453:67518540 | 67517694:67517762 | ENSG00000116704.6 | ENST00000235345.5,ENST00000506472.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC35D1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_27703 | 1 | 67465014:67470131:67474767:67474850:67486051:67486130 | 67474767:67474850 | ENSG00000116704.6 | ENST00000235345.5 |
| exon_skip_27705 | 1 | 67487217:67487285:67507918:67508011:67512947:67513050 | 67507918:67508011 | ENSG00000116704.6 | ENST00000235345.5,ENST00000506472.2 |
| exon_skip_27706 | 1 | 67512947:67513050:67515464:67515533:67516115:67516187 | 67515464:67515533 | ENSG00000116704.6 | ENST00000235345.5,ENST00000506472.2 |
| exon_skip_27708 | 1 | 67516115:67516187:67517694:67517762:67518453:67518540 | 67517694:67517762 | ENSG00000116704.6 | ENST00000235345.5,ENST00000506472.2 |
| 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 SLC35D1 |
| 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 |
| ENST00000235345 | 67474767 | 67474850 | Frame-shift |
| ENST00000235345 | 67517694 | 67517762 | Frame-shift |
| ENST00000235345 | 67507918 | 67508011 | In-frame |
| ENST00000235345 | 67515464 | 67515533 | 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 |
| ENST00000235345 | 67474767 | 67474850 | Frame-shift |
| ENST00000235345 | 67517694 | 67517762 | Frame-shift |
| ENST00000235345 | 67507918 | 67508011 | In-frame |
| ENST00000235345 | 67515464 | 67515533 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC35D1 |
| 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 |
| ENST00000235345 | 6179 | 355 | 67515464 | 67515533 | 551 | 619 | 155 | 177 |
| ENST00000235345 | 6179 | 355 | 67507918 | 67508011 | 723 | 815 | 212 | 243 |
| 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 |
| ENST00000235345 | 6179 | 355 | 67515464 | 67515533 | 551 | 619 | 155 | 177 |
| ENST00000235345 | 6179 | 355 | 67507918 | 67508011 | 723 | 815 | 212 | 243 |
| 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 |
| Q9NTN3 | 155 | 177 | 1 | 355 | Chain | ID=PRO_0000213394;Note=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter |
| Q9NTN3 | 155 | 177 | 158 | 177 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NTN3 | 212 | 243 | 1 | 355 | Chain | ID=PRO_0000213394;Note=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter |
| Q9NTN3 | 212 | 243 | 217 | 239 | 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 |
| Q9NTN3 | 155 | 177 | 1 | 355 | Chain | ID=PRO_0000213394;Note=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter |
| Q9NTN3 | 155 | 177 | 158 | 177 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NTN3 | 212 | 243 | 1 | 355 | Chain | ID=PRO_0000213394;Note=UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter |
| Q9NTN3 | 212 | 243 | 217 | 239 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC35D1 |
| - 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-A1EG-01 | exon_skip_27705 | 67507919 | 67508011 | 67508000 | 67508000 | Frame_Shift_Del | T | - | p.K216fs |
| HNSC | TCGA-CR-7388-01 | exon_skip_27705 | 67507919 | 67508011 | 67507918 | 67507918 | Splice_Site | C | - | p.K243_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 |
| IGROV1_OVARY | 67474768 | 67474850 | 67474796 | 67474796 | Missense_Mutation | A | G | p.W311R |
| CCK81_LARGE_INTESTINE | 67507919 | 67508011 | 67507992 | 67507992 | Missense_Mutation | A | C | p.L219R |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67515465 | 67515533 | 67515481 | 67515481 | Missense_Mutation | C | T | p.A173T |
| KNS62_LUNG | 67517695 | 67517762 | 67517729 | 67517729 | Nonsense_Mutation | G | A | p.Q120* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC35D1 |
| 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 SLC35D1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC35D1 |
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RelatedDrugs for SLC35D1 |
| 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 SLC35D1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SLC35D1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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