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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 SLC35D2 |
 Gene summary |
| Gene information | Gene symbol | SLC35D2 | Gene ID | 11046 |
| Gene name | solute carrier family 35 member D2 | |
| Synonyms | HFRC1|SQV7L|UGTrel8|hfrc | |
| Cytomap | 9q22.32 | |
| Type of gene | protein-coding | |
| Description | UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporterSQV7-like proteinUDP-N-acetylglucosamine transporterUDP-galactose transporter-related protein 8fringe connectionhomolog of Fringe connection protein 1solute carrier family 35 (UDP-GlcNAc/UDP | |
| Modification date | 20180523 | |
| UniProtAcc | Q76EJ3 | |
| Context | PubMed: SLC35D2 [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 SLC35D2 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 SLC35D2 |
| 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 SLC35D2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505128 | 9 | 99082988:99083623:99084279:99084362:99086372:99086451 | 99084279:99084362 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4 |
| exon_skip_505133 | 9 | 99084279:99084362:99086372:99086451:99098998:99099066 | 99086372:99086451 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505135 | 9 | 99086372:99086451:99098998:99099066:99106185:99106275 | 99098998:99099066 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505143 | 9 | 99086372:99086451:99113384:99113453:99114319:99114391 | 99113384:99113453 | ENSG00000130958.7 | ENST00000375259.4 |
| exon_skip_505150 | 9 | 99098998:99099066:99106185:99106278:99107580:99107683 | 99106185:99106278 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505159 | 9 | 99106185:99106278:99107580:99107683:99113384:99113453 | 99107580:99107683 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505164 | 9 | 99107580:99107683:99113384:99113453:99114319:99114391 | 99113384:99113453 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505171 | 9 | 99113388:99113453:99114319:99114391:99122435:99122503 | 99114319:99114391 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505176 | 9 | 99114319:99114391:99119692:99119833:99122435:99122503 | 99119692:99119833 | ENSG00000130958.7 | ENST00000482643.1 |
| exon_skip_505179 | 9 | 99114319:99114391:99122435:99122503:99126745:99126832 | 99122435:99122503 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505182 | 9 | 99122435:99122503:99126745:99126832:99130553:99130587 | 99126745:99126832 | ENSG00000130958.7 | ENST00000482643.1,ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505183 | 9 | 99126745:99126832:99130553:99130587:99145758:99145962 | 99130553:99130587 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505184 | 9 | 99130553:99130587:99136281:99136364:99145758:99145962 | 99136281:99136364 | ENSG00000130958.7 | ENST00000482643.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC35D2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505128 | 9 | 99082988:99083623:99084279:99084362:99086372:99086451 | 99084279:99084362 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4 |
| exon_skip_505133 | 9 | 99084279:99084362:99086372:99086451:99098998:99099066 | 99086372:99086451 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505135 | 9 | 99086372:99086451:99098998:99099066:99106185:99106275 | 99098998:99099066 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505143 | 9 | 99086372:99086451:99113384:99113453:99114319:99114391 | 99113384:99113453 | ENSG00000130958.7 | ENST00000375259.4 |
| exon_skip_505150 | 9 | 99098998:99099066:99106185:99106278:99107580:99107683 | 99106185:99106278 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505159 | 9 | 99106185:99106278:99107580:99107683:99113384:99113453 | 99107580:99107683 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505164 | 9 | 99107580:99107683:99113384:99113453:99114319:99114391 | 99113384:99113453 | ENSG00000130958.7 | ENST00000253270.7 |
| exon_skip_505171 | 9 | 99113388:99113453:99114319:99114391:99122435:99122503 | 99114319:99114391 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505176 | 9 | 99114319:99114391:99119692:99119833:99122435:99122503 | 99119692:99119833 | ENSG00000130958.7 | ENST00000482643.1 |
| exon_skip_505179 | 9 | 99114319:99114391:99122435:99122503:99126745:99126832 | 99122435:99122503 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505182 | 9 | 99122435:99122503:99126745:99126832:99130553:99130587 | 99126745:99126832 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1,ENST00000482643.1 |
| exon_skip_505183 | 9 | 99126745:99126832:99130553:99130587:99145758:99145962 | 99130553:99130587 | ENSG00000130958.7 | ENST00000253270.7,ENST00000375259.4,ENST00000375257.1 |
| exon_skip_505184 | 9 | 99130553:99130587:99136281:99136364:99145758:99145962 | 99136281:99136364 | ENSG00000130958.7 | ENST00000482643.1 |
| 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 SLC35D2 |
| 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 |
| ENST00000253270 | 99084279 | 99084362 | Frame-shift |
| ENST00000253270 | 99086372 | 99086451 | Frame-shift |
| ENST00000253270 | 99098998 | 99099066 | Frame-shift |
| ENST00000253270 | 99107580 | 99107683 | Frame-shift |
| ENST00000253270 | 99122435 | 99122503 | Frame-shift |
| ENST00000253270 | 99130553 | 99130587 | Frame-shift |
| ENST00000253270 | 99106185 | 99106278 | In-frame |
| ENST00000253270 | 99113384 | 99113453 | In-frame |
| ENST00000253270 | 99114319 | 99114391 | In-frame |
| ENST00000253270 | 99126745 | 99126832 | 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 |
| ENST00000253270 | 99084279 | 99084362 | Frame-shift |
| ENST00000253270 | 99086372 | 99086451 | Frame-shift |
| ENST00000253270 | 99098998 | 99099066 | Frame-shift |
| ENST00000253270 | 99107580 | 99107683 | Frame-shift |
| ENST00000253270 | 99122435 | 99122503 | Frame-shift |
| ENST00000253270 | 99130553 | 99130587 | Frame-shift |
| ENST00000253270 | 99106185 | 99106278 | In-frame |
| ENST00000253270 | 99113384 | 99113453 | In-frame |
| ENST00000253270 | 99114319 | 99114391 | In-frame |
| ENST00000253270 | 99126745 | 99126832 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SLC35D2 |
| 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 |
| ENST00000253270 | 1630 | 337 | 99126745 | 99126832 | 256 | 342 | 64 | 93 |
| ENST00000253270 | 1630 | 337 | 99114319 | 99114391 | 411 | 482 | 116 | 139 |
| ENST00000253270 | 1630 | 337 | 99113384 | 99113453 | 483 | 551 | 140 | 162 |
| ENST00000253270 | 1630 | 337 | 99106185 | 99106278 | 655 | 747 | 197 | 228 |
| 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 |
| ENST00000253270 | 1630 | 337 | 99126745 | 99126832 | 256 | 342 | 64 | 93 |
| ENST00000253270 | 1630 | 337 | 99114319 | 99114391 | 411 | 482 | 116 | 139 |
| ENST00000253270 | 1630 | 337 | 99113384 | 99113453 | 483 | 551 | 140 | 162 |
| ENST00000253270 | 1630 | 337 | 99106185 | 99106278 | 655 | 747 | 197 | 228 |
| 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 |
| Q76EJ3 | 64 | 93 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 64 | 93 | 75 | 146 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 64 | 93 | 54 | 74 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 116 | 139 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 116 | 139 | 75 | 146 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 140 | 162 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 140 | 162 | 75 | 146 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 140 | 162 | 147 | 167 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 197 | 228 | 164 | 251 | Alternative sequence | ID=VSP_030006;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q76EJ3 | 197 | 228 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 197 | 228 | 189 | 201 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 197 | 228 | 223 | 237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 197 | 228 | 202 | 222 | 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 |
| Q76EJ3 | 64 | 93 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 64 | 93 | 75 | 146 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 64 | 93 | 54 | 74 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 116 | 139 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 116 | 139 | 75 | 146 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 140 | 162 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 140 | 162 | 75 | 146 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 140 | 162 | 147 | 167 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 197 | 228 | 164 | 251 | Alternative sequence | ID=VSP_030006;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q76EJ3 | 197 | 228 | 1 | 337 | Chain | ID=PRO_0000313080;Note=UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter |
| Q76EJ3 | 197 | 228 | 189 | 201 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 197 | 228 | 223 | 237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q76EJ3 | 197 | 228 | 202 | 222 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SLC35D2 |
| - 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_505133 | 99086373 | 99086451 | 99086448 | 99086448 | Frame_Shift_Del | A | - | p.F252fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_505135 | 99098999 | 99099066 | 99099002 | 99099002 | Frame_Shift_Del | A | - | p.L250fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_505135 | 99098999 | 99099066 | 99099002 | 99099002 | Frame_Shift_Del | A | - | p.L250fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_505135 | 99098999 | 99099066 | 99099002 | 99099002 | Frame_Shift_Del | A | - | p.L250fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_505135 | 99098999 | 99099066 | 99099002 | 99099002 | Frame_Shift_Del | A | - | p.L250fs |
| READ | TCGA-EI-6882-01 | exon_skip_505135 | 99098999 | 99099066 | 99099002 | 99099002 | Frame_Shift_Del | A | - | p.L250fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_505159 | 99107581 | 99107683 | 99107607 | 99107607 | Frame_Shift_Del | A | - | p.Y189fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_505159 | 99107581 | 99107683 | 99107647 | 99107647 | Frame_Shift_Del | A | - | p.F175fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_505183 | 99130554 | 99130587 | 99130570 | 99130570 | Frame_Shift_Del | A | - | p.F59fs |
| KIRP | TCGA-HE-7129-01 | exon_skip_505150 | 99106186 | 99106278 | 99106263 | 99106263 | Nonsense_Mutation | C | A | p.G203X |
| STAD | TCGA-BR-4363-01 | exon_skip_505135 | 99098999 | 99099066 | 99098997 | 99098998 | Splice_Site | - | C | p.G251_splice |
| UCEC | TCGA-B5-A11E-01 | exon_skip_505164 exon_skip_505143 | 99113385 | 99113453 | 99113454 | 99113454 | Splice_Site | C | A | e6-1 |
| BRCA | TCGA-C8-A12Y-01 | exon_skip_505182 | 99126746 | 99126832 | 99126743 | 99126744 | Splice_Site | - | A | e3+2 |
| - 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 |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99086373 | 99086451 | 99086383 | 99086383 | Missense_Mutation | C | G | p.G274A |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99098999 | 99099066 | 99099007 | 99099007 | Missense_Mutation | A | C | p.C248W |
| NOS1_BONE | 99113385 | 99113453 | 99113409 | 99113409 | Missense_Mutation | A | G | p.I155T |
| SNU1040_LARGE_INTESTINE | 99114320 | 99114391 | 99114366 | 99114366 | Missense_Mutation | T | C | p.K125E |
| HT55_LARGE_INTESTINE | 99114320 | 99114391 | 99114383 | 99114383 | Missense_Mutation | A | G | p.M119T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC35D2 |
| 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 SLC35D2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC35D2 |
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RelatedDrugs for SLC35D2 |
| 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 SLC35D2 |
| 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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