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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 UNC5D |
 Gene summary |
| Gene information | Gene symbol | UNC5D | Gene ID | 137970 |
| Gene name | unc-5 netrin receptor D | |
| Synonyms | PRO34692|Unc5h4 | |
| Cytomap | 8p12 | |
| Type of gene | protein-coding | |
| Description | netrin receptor UNC5Dnetrin receptor Unc5h4protein unc-5 homolog 4protein unc-5 homolog Dunc-5 homolog 4unc-5 homolog D | |
| Modification date | 20180329 | |
| UniProtAcc | Q6UXZ4 | |
| Context | PubMed: UNC5D [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 |
| UNC5D | GO:0098742 | cell-cell adhesion via plasma-membrane adhesion molecules | 26235030 |
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Exon skipping events across known transcript of Ensembl for UNC5D 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 UNC5D |
| 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 UNC5D |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_482688 | 8 | 35541099:35541245:35542099:35542267:35544062:35544227 | 35542099:35542267 | ENSG00000156687.6 | ENST00000404895.2,ENST00000474634.1,ENST00000453357.2,ENST00000416672.1 |
| exon_skip_482689 | 8 | 35544062:35544227:35563446:35563479:35579727:35579874 | 35563446:35563479 | ENSG00000156687.6 | ENST00000404895.2,ENST00000287272.2,ENST00000453357.2 |
| exon_skip_482690 | 8 | 35563446:35563479:35578972:35578987:35579727:35579874 | 35578972:35578987 | ENSG00000156687.6 | ENST00000416672.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UNC5D |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_482688 | 8 | 35541099:35541245:35542099:35542267:35544062:35544227 | 35542099:35542267 | ENSG00000156687.6 | ENST00000404895.2,ENST00000416672.1,ENST00000453357.2,ENST00000474634.1 |
| exon_skip_482689 | 8 | 35544062:35544227:35563446:35563479:35579727:35579874 | 35563446:35563479 | ENSG00000156687.6 | ENST00000404895.2,ENST00000287272.2,ENST00000453357.2 |
| exon_skip_482690 | 8 | 35563446:35563479:35578972:35578987:35579727:35579874 | 35578972:35578987 | ENSG00000156687.6 | ENST00000416672.1 |
| 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 UNC5D |
| 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 |
| ENST00000404895 | 35542099 | 35542267 | In-frame |
| ENST00000404895 | 35563446 | 35563479 | 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 |
| ENST00000404895 | 35542099 | 35542267 | In-frame |
| ENST00000404895 | 35563446 | 35563479 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UNC5D |
| 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 |
| ENST00000404895 | 3269 | 953 | 35542099 | 35542267 | 1080 | 1247 | 250 | 306 |
| ENST00000404895 | 3269 | 953 | 35563446 | 35563479 | 1413 | 1445 | 361 | 372 |
| 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 |
| ENST00000404895 | 3269 | 953 | 35542099 | 35542267 | 1080 | 1247 | 250 | 306 |
| ENST00000404895 | 3269 | 953 | 35563446 | 35563479 | 1413 | 1445 | 361 | 372 |
| 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 |
| Q6UXZ4 | 250 | 306 | 33 | 953 | Chain | ID=PRO_0000036079;Note=Netrin receptor UNC5D |
| Q6UXZ4 | 250 | 306 | 264 | 301 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6UXZ4 | 250 | 306 | 268 | 305 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6UXZ4 | 250 | 306 | 279 | 291 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6UXZ4 | 250 | 306 | 252 | 306 | Domain | Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UXZ4 | 250 | 306 | 33 | 379 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXZ4 | 361 | 372 | 33 | 953 | Chain | ID=PRO_0000036079;Note=Netrin receptor UNC5D |
| Q6UXZ4 | 361 | 372 | 33 | 379 | Topological domain | Note=Extracellular;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 |
| Q6UXZ4 | 250 | 306 | 33 | 953 | Chain | ID=PRO_0000036079;Note=Netrin receptor UNC5D |
| Q6UXZ4 | 250 | 306 | 264 | 301 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6UXZ4 | 250 | 306 | 268 | 305 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6UXZ4 | 250 | 306 | 279 | 291 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q6UXZ4 | 250 | 306 | 252 | 306 | Domain | Note=TSP type-1 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00210 |
| Q6UXZ4 | 250 | 306 | 33 | 379 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXZ4 | 361 | 372 | 33 | 953 | Chain | ID=PRO_0000036079;Note=Netrin receptor UNC5D |
| Q6UXZ4 | 361 | 372 | 33 | 379 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for UNC5D |
| - 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 |
| LGG | TCGA-QH-A6XA-01 | exon_skip_482689 | 35563447 | 35563479 | 35563469 | 35563469 | Frame_Shift_Del | A | - | p.I313fs |
| LIHC | TCGA-CC-A5UD-01 | 35542100 | 35542267 | 35542098 | 35542098 | Splice_Site | A | T | . | |
| BRCA | TCGA-BH-A0HX-01 | exon_skip_482689 | 35563447 | 35563479 | 35563480 | 35563480 | Splice_Site | G | T | e8+1 |
| - 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 |
| SW48_LARGE_INTESTINE | 35542100 | 35542267 | 35542136 | 35542136 | Missense_Mutation | C | T | p.A263V |
| HEC251_ENDOMETRIUM | 35542100 | 35542267 | 35542208 | 35542208 | Missense_Mutation | G | A | p.G287D |
| HCC2998_LARGE_INTESTINE | 35542100 | 35542267 | 35542214 | 35542214 | Missense_Mutation | C | T | p.A289V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 35542100 | 35542267 | 35542255 | 35542255 | Missense_Mutation | T | G | p.S303A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35542100 | 35542267 | 35542255 | 35542255 | Missense_Mutation | T | G | p.S303A |
| A549_LUNG | 35542100 | 35542267 | 35542258 | 35542258 | Missense_Mutation | C | A | p.L304I |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35563447 | 35563479 | 35563454 | 35563454 | Missense_Mutation | A | C | p.K364N |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35563447 | 35563479 | 35563454 | 35563454 | Missense_Mutation | A | C | p.K364N |
| MCC13_SKIN | 35563447 | 35563479 | 35563461 | 35563461 | Missense_Mutation | C | T | p.H367Y |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35563447 | 35563479 | 35563469 | 35563469 | Missense_Mutation | A | G | p.I369M |
| VMCUB1_URINARY_TRACT | 35542100 | 35542267 | 35542185 | 35542185 | Nonsense_Mutation | C | A | p.C279* |
| NCIH2009_LUNG | 35563447 | 35563479 | 35563476 | 35563476 | Nonsense_Mutation | C | T | p.Q372* |
| SARC9371_BONE | 35563447 | 35563479 | 35563476 | 35563476 | Nonsense_Mutation | C | T | p.Q372* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UNC5D |
| 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 UNC5D |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UNC5D |
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RelatedDrugs for UNC5D |
| 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 UNC5D |
| 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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