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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 UNC50 |
 Gene summary |
| Gene information | Gene symbol | UNC50 | Gene ID | 25972 |
| Gene name | unc-50 inner nuclear membrane RNA binding protein | |
| Synonyms | GMH1|HSD23|PDLs22|UNCL|URP | |
| Cytomap | 2q11.2 | |
| Type of gene | protein-coding | |
| Description | protein unc-50 homologgeal-6 membrane-associated high-copy suppressor 1periodontal ligament-specific protein 22protein GMH1 homologunc-50 relatedunc-50-like proteinuncoordinated-like protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q53HI1 | |
| Context | PubMed: UNC50 [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 UNC50 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 UNC50 |
| 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 UNC50 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327971 | 2 | 99227237:99227358:99232669:99232809:99232894:99232996 | 99232669:99232809 | ENSG00000115446.7 | ENST00000409347.1,ENST00000357765.2,ENST00000409975.1 |
| exon_skip_327976 | 2 | 99232669:99232809:99232894:99232996:99234630:99234975 | 99232894:99232996 | ENSG00000115446.7 | ENST00000409347.1,ENST00000357765.2,ENST00000409975.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UNC50 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_327971 | 2 | 99227237:99227358:99232669:99232809:99232894:99232996 | 99232669:99232809 | ENSG00000115446.7 | ENST00000357765.2,ENST00000409975.1,ENST00000409347.1 |
| exon_skip_327976 | 2 | 99232669:99232809:99232894:99232996:99234630:99234975 | 99232894:99232996 | ENSG00000115446.7 | ENST00000357765.2,ENST00000409975.1,ENST00000409347.1 |
| 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 UNC50 |
| 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 |
| ENST00000357765 | 99232669 | 99232809 | Frame-shift |
| ENST00000357765 | 99232894 | 99232996 | 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 |
| ENST00000357765 | 99232669 | 99232809 | Frame-shift |
| ENST00000357765 | 99232894 | 99232996 | In-frame |
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Infer the effects of exon skipping event on protein functional features for UNC50 |
| 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 |
| ENST00000357765 | 1160 | 259 | 99232894 | 99232996 | 694 | 795 | 180 | 214 |
| 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 |
| ENST00000357765 | 1160 | 259 | 99232894 | 99232996 | 694 | 795 | 180 | 214 |
| 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 |
| Q53HI1 | 180 | 214 | 1 | 259 | Chain | ID=PRO_0000308961;Note=Protein unc-50 homolog |
| Q53HI1 | 180 | 214 | 185 | 187 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q53HI1 | 180 | 214 | 209 | 222 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q53HI1 | 180 | 214 | 164 | 184 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q53HI1 | 180 | 214 | 188 | 208 | 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 |
| Q53HI1 | 180 | 214 | 1 | 259 | Chain | ID=PRO_0000308961;Note=Protein unc-50 homolog |
| Q53HI1 | 180 | 214 | 185 | 187 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q53HI1 | 180 | 214 | 209 | 222 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q53HI1 | 180 | 214 | 164 | 184 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q53HI1 | 180 | 214 | 188 | 208 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for UNC50 |
| - 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_327971 | 99232670 | 99232809 | 99232757 | 99232757 | Frame_Shift_Del | T | - | p.A180fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_327971 | 99232670 | 99232809 | 99232757 | 99232757 | Frame_Shift_Del | T | - | p.A180fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_327971 | 99232670 | 99232809 | 99232757 | 99232757 | Frame_Shift_Del | T | - | p.A180fs |
| HNSC | TCGA-F7-A624-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L193fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L193fs |
| STAD | TCGA-BR-8368-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L193fs |
| STAD | TCGA-CG-4442-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L193fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.F195fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L193fs |
| UCEC | TCGA-B5-A0K6-01 | exon_skip_327971 | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L193fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_327976 | 99232895 | 99232996 | 99232942 | 99232942 | Frame_Shift_Del | T | - | p.L214fs |
| LUAD | TCGA-62-A46S-01 | exon_skip_327971 | 99232670 | 99232809 | 99232733 | 99232733 | Nonsense_Mutation | T | A | p.Y172* |
| - 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 |
| HEC265_ENDOMETRIUM | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
| SKOV3_OVARY | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
| SNU407_LARGE_INTESTINE | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
| HCC1569_BREAST | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
| IGROV1_OVARY | 99232670 | 99232809 | 99232795 | 99232795 | Frame_Shift_Del | T | - | p.L176fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UNC50 |
| 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 UNC50 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UNC50 |
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RelatedDrugs for UNC50 |
| 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 UNC50 |
| 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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