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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 UBR7 |
 Gene summary |
| Gene information | Gene symbol | UBR7 | Gene ID | 55148 |
| Gene name | ubiquitin protein ligase E3 component n-recognin 7 (putative) | |
| Synonyms | C14orf130 | |
| Cytomap | 14q32.12 | |
| Type of gene | protein-coding | |
| Description | putative E3 ubiquitin-protein ligase UBR7N-recognin-7RING-type E3 ubiquitin transferase UBR7 | |
| Modification date | 20180522 | |
| UniProtAcc | Q8N806 | |
| Context | PubMed: UBR7 [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 UBR7 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 UBR7 |
| 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 UBR7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109458 | 14 | 93673400:93673786:93676169:93676303:93676993:93677054 | 93676169:93676303 | ENSG00000012963.9 | ENST00000554232.1 |
| exon_skip_109460 | 14 | 93676993:93677054:93678377:93678473:93681274:93681328 | 93678377:93678473 | ENSG00000012963.9 | ENST00000416753.1,ENST00000013070.6,ENST00000553857.1,ENST00000553674.1,ENST00000555113.1 |
| exon_skip_109461 | 14 | 93685557:93685707:93686594:93686757:93688658:93688720 | 93686594:93686757 | ENSG00000012963.9 | ENST00000416753.1,ENST00000013070.6,ENST00000553674.1 |
| exon_skip_109464 | 14 | 93686631:93686757:93688658:93688720:93693288:93693370 | 93688658:93688720 | ENSG00000012963.9 | ENST00000416753.1,ENST00000013070.6,ENST00000553674.1,ENST00000555329.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for UBR7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_109458 | 14 | 93673400:93673786:93676169:93676303:93676993:93677054 | 93676169:93676303 | ENSG00000012963.9 | ENST00000554232.1 |
| exon_skip_109460 | 14 | 93676993:93677054:93678377:93678473:93681274:93681328 | 93678377:93678473 | ENSG00000012963.9 | ENST00000013070.6,ENST00000416753.1,ENST00000553674.1,ENST00000555113.1,ENST00000553857.1 |
| exon_skip_109461 | 14 | 93685557:93685707:93686594:93686757:93688658:93688720 | 93686594:93686757 | ENSG00000012963.9 | ENST00000013070.6,ENST00000416753.1,ENST00000553674.1 |
| exon_skip_109464 | 14 | 93686631:93686757:93688658:93688720:93693288:93693370 | 93688658:93688720 | ENSG00000012963.9 | ENST00000013070.6,ENST00000416753.1,ENST00000553674.1,ENST00000555329.1 |
| 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 UBR7 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for UBR7 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for UBR7 |
| - 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 |
| BRCA | TCGA-E2-A14T-01 | exon_skip_109461 | 93686595 | 93686757 | 93686624 | 93686624 | Frame_Shift_Del | C | - | p.L331fs |
| KIRC | TCGA-BP-5177-01 | exon_skip_109461 | 93686595 | 93686757 | 93686659 | 93686659 | Frame_Shift_Del | A | - | p.E342fs |
| ESCA | TCGA-LN-A49P-01 | exon_skip_109458 | 93676170 | 93676303 | 93676302 | 93676302 | Nonsense_Mutation | A | T | p.R95* |
| ESCA | TCGA-LN-A49P-01 | exon_skip_109458 | 93676170 | 93676303 | 93676302 | 93676302 | Nonsense_Mutation | A | T | p.R95X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_109461 | 93686595 | 93686757 | 93686658 | 93686658 | Nonsense_Mutation | G | T | p.E342* |
| LUAD | TCGA-49-4494-01 | exon_skip_109461 | 93686595 | 93686757 | 93686679 | 93686679 | Nonsense_Mutation | C | T | p.Q349* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_109458 | 93676170 | 93676303 | 93676168 | 93676168 | Splice_Site | A | G | e2-2 |
| - 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 |
| MORCPR_LUNG | 93676170 | 93676303 | 93676236 | 93676236 | Missense_Mutation | G | A | p.G73R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 93678378 | 93678473 | 93678384 | 93678384 | Missense_Mutation | G | T | p.A118S |
| MCC26_SKIN | 93678378 | 93678473 | 93678385 | 93678385 | Missense_Mutation | C | T | p.A118V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 93678378 | 93678473 | 93678399 | 93678399 | Missense_Mutation | G | T | p.G123C |
| SHP77_LUNG | 93678378 | 93678473 | 93678400 | 93678400 | Missense_Mutation | G | T | p.G123V |
| SNUC2A_LARGE_INTESTINE | 93678378 | 93678473 | 93678432 | 93678432 | Missense_Mutation | T | C | p.Y134H |
| DU145_PROSTATE | 93686595 | 93686757 | 93686616 | 93686616 | Missense_Mutation | G | A | p.V328I |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 93688659 | 93688720 | 93688672 | 93688672 | Missense_Mutation | G | T | p.L379F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for UBR7 |
| 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 UBR7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for UBR7 |
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RelatedDrugs for UBR7 |
| 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 UBR7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| UBR7 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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