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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for XPC |
 Gene summary |
| Gene information | Gene symbol | XPC | Gene ID | 7508 |
| Gene name | XPC complex subunit, DNA damage recognition and repair factor | |
| Synonyms | RAD4|XP3|XPCC|p125 | |
| Cytomap | 3p25.1 | |
| Type of gene | protein-coding | |
| Description | DNA repair protein complementing XP-C cellsmutant xeroderma pigmentosum group Cxeroderma pigmentosum, complementation group C | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| XPC | GO:0000715 | nucleotide-excision repair, DNA damage recognition | 10873465|19941824 |
| XPC | GO:0006289 | nucleotide-excision repair | 8168482|9734359|11259578 |
| XPC | GO:0045893 | positive regulation of transcription, DNA-templated | 29973595|31527837 |
| XPC | GO:0070914 | UV-damage excision repair | 8077226 |
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Gene structures and expression levels for XPC |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000154767
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000511155.1 | XPC-207:protein_coding:XPC | 3.999421e+00 | 2.143119e+00 | 2.608016e-03 | 2.885148e-02 |
| CB | UP | ENST00000476581.6 | XPC-205:nonsense_mediated_decay:XPC | 2.660497e+01 | 1.004798e+00 | 1.469801e-04 | 1.028350e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for XPC |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_177021 | chr3 | 14152335:14152416:14156335:14156495:14158011:14158886 | 14156335:14156495 |
| exon_skip_185136 | chr3 | 14167169:14167253:14168257:14168380:14170438:14170460 | 14168257:14168380 |
| exon_skip_244890 | chr3 | 14147908:14148001:14148562:14148731:14148814:14148928 | 14148562:14148731 |
| exon_skip_287564 | chr3 | 14167169:14167253:14168257:14168380:14170438:14170550 | 14168257:14168380 |
| exon_skip_294161 | chr3 | 14152362:14152416:14156335:14156495:14158011:14158892 | 14156335:14156495 |
| exon_skip_42605 | chr3 | 14152335:14152416:14156335:14156495:14158011:14158892 | 14156335:14156495 |
| exon_skip_49284 | chr3 | 14165428:14165585:14167169:14167253:14170438:14170460 | 14167169:14167253 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for XPC |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000285021 | 14148562 | 14148731 | Frame-shift |
| ENST00000285021 | 14156335 | 14156495 | Frame-shift |
| ENST00000285021 | 14168257 | 14168380 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000285021 | 14156335 | 14156495 | Frame-shift |
| ENST00000285021 | 14168257 | 14168380 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000285021 | 14148562 | 14148731 | Frame-shift |
| ENST00000285021 | 14156335 | 14156495 | Frame-shift |
| ENST00000285021 | 14168257 | 14168380 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for XPC |
p-ENSG00000154767_img4.png |
| Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in XPC |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for XPC |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for XPC |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XPC |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for XPC |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for XPC |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for XPC |
| 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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