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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 C1D |
 Gene summary |
| Gene information | Gene symbol | C1D | Gene ID | 10438 |
| Gene name | C1D nuclear receptor corepressor | |
| Synonyms | LRP1|Rrp47|SUN-CoR|SUNCOR|hC1D | |
| Cytomap | 2p14 | |
| Type of gene | protein-coding | |
| Description | nuclear nucleic acid-binding protein C1DC1D DNA-binding proteinC1D nuclear receptor co-repressornuclear DNA-binding proteinsmall unique nuclear receptor co-repressorsmall unique nuclear receptor corepressor | |
| Modification date | 20200313 | |
| UniProtAcc | J3KPZ4, Q13901, | |
| Context |
| 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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Gene structures and expression levels for C1D |
| 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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ENSG00000197223
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 C1D |
| 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_101003 | chr2 | 68045988:68046043:68046344:68046410:68047173:68047315 | 68046344:68046410 |
| exon_skip_221451 | chr2 | 68046344:68046410:68047173:68047319:68062945:68062982 | 68047173:68047319 |
| exon_skip_290411 | chr2 | 68046344:68046410:68047173:68047319:68062958:68063009 | 68047173:68047319 |
| exon_skip_88279 | chr2 | 68047173:68047315:68053061:68053137:68062958:68063009 | 68053061:68053137 |
| 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 C1D |
| 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 |
| ENST00000409302 | 68053061 | 68053137 | 3UTR-3UTR |
| ENST00000355848 | 68046344 | 68046410 | Frame-shift |
| ENST00000409302 | 68046344 | 68046410 | Frame-shift |
| ENST00000410067 | 68046344 | 68046410 | 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 |
| ENST00000410067 | 68047173 | 68047319 | 3UTR-3CDS |
| ENST00000409302 | 68053061 | 68053137 | 3UTR-3UTR |
| 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 |
| ENST00000410067 | 68047173 | 68047319 | 3UTR-3CDS |
| ENST00000409302 | 68053061 | 68053137 | 3UTR-3UTR |
| ENST00000355848 | 68046344 | 68046410 | Frame-shift |
| ENST00000409302 | 68046344 | 68046410 | Frame-shift |
| ENST00000410067 | 68046344 | 68046410 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C1D |
p-ENSG00000197223_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 C1D |
| 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 |
| Mayo | ENST00000409302 | 68053061 | 68053137 | hsa-miR-4491 | chr2:68053112-68053119 | 8mer-1a | chr2:68053097-68053119 | 155.00 | -21.72 |
| Mayo | ENST00000409302 | 68053061 | 68053137 | hsa-miR-3190-3p | chr2:68053110-68053117 | 8mer-1a | chr2:68053098-68053118 | 161.00 | -25.52 |
| Mayo | ENST00000409302 | 68053061 | 68053137 | hsa-miR-4657 | chr2:68053112-68053119 | 8mer-1a | chr2:68053097-68053119 | 155.00 | -21.72 |
| Mayo | ENST00000409302 | 68053061 | 68053137 | hsa-miR-3202 | chr2:68053108-68053115 | 8mer-1a | chr2:68053098-68053118 | 161.00 | -25.52 |
| MSBB | ENST00000409302 | 68053061 | 68053137 | hsa-miR-4491 | chr2:68053112-68053119 | 8mer-1a | chr2:68053097-68053119 | 155.00 | -21.72 |
| MSBB | ENST00000409302 | 68053061 | 68053137 | hsa-miR-3190-3p | chr2:68053110-68053117 | 8mer-1a | chr2:68053098-68053118 | 161.00 | -25.52 |
| MSBB | ENST00000409302 | 68053061 | 68053137 | hsa-miR-4657 | chr2:68053112-68053119 | 8mer-1a | chr2:68053097-68053119 | 155.00 | -21.72 |
| MSBB | ENST00000409302 | 68053061 | 68053137 | hsa-miR-3202 | chr2:68053108-68053115 | 8mer-1a | chr2:68053098-68053118 | 161.00 | -25.52 |
| ROSMAP | ENST00000409302 | 68053061 | 68053137 | hsa-miR-4491 | chr2:68053112-68053119 | 8mer-1a | chr2:68053097-68053119 | 155.00 | -21.72 |
| ROSMAP | ENST00000409302 | 68053061 | 68053137 | hsa-miR-3190-3p | chr2:68053110-68053117 | 8mer-1a | chr2:68053098-68053118 | 161.00 | -25.52 |
| ROSMAP | ENST00000409302 | 68053061 | 68053137 | hsa-miR-4657 | chr2:68053112-68053119 | 8mer-1a | chr2:68053097-68053119 | 155.00 | -21.72 |
| ROSMAP | ENST00000409302 | 68053061 | 68053137 | hsa-miR-3202 | chr2:68053108-68053115 | 8mer-1a | chr2:68053098-68053118 | 161.00 | -25.52 |
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SNVs in the skipped exons for C1D |
| - 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 C1D |
| 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 C1D |
| 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 C1D |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| DLPFC | KHSRP | exon_skip_58930 | 4.333966e-01 | 6.989868e-14 |
| DLPFC | TARDBP | exon_skip_160639 | 4.085653e-01 | 2.755151e-12 |
| DLPFC | SRSF2 | exon_skip_160639 | 5.339484e-01 | 2.659652e-21 |
| DLPFC | SRSF11 | exon_skip_160639 | 5.006801e-01 | 1.543844e-18 |
| DLPFC | RBM5 | exon_skip_160639 | 5.924118e-01 | 5.715301e-27 |
| DLPFC | KHSRP | exon_skip_160639 | 6.896596e-01 | 1.898918e-39 |
| DLPFC | EWSR1 | exon_skip_160639 | 5.906747e-01 | 8.755052e-27 |
| DLPFC | SRSF1 | exon_skip_160639 | 4.504038e-01 | 6.809836e-15 |
| DLPFC | SRSF9 | exon_skip_160639 | 5.682814e-01 | 1.711251e-24 |
| DLPFC | ESRP1 | exon_skip_160639 | 4.158582e-01 | 1.026221e-12 |
| HCC | RBM5 | exon_skip_58930 | -4.099093e-01 | 2.091421e-10 |
| IFG | SRSF2 | exon_skip_160639 | -5.808138e-01 | 5.764267e-03 |
| IFG | ESRP1 | exon_skip_160639 | -4.716066e-01 | 3.090597e-02 |
| IFG | HNRNPF | exon_skip_160639 | -5.008137e-01 | 2.075047e-02 |
| TC | ILF2 | exon_skip_160639 | 4.056033e-01 | 1.244055e-07 |
| TC | HNRNPH2 | exon_skip_160639 | 5.285352e-01 | 9.490919e-13 |
| TC | ESRP1 | exon_skip_160639 | 4.535220e-01 | 2.175698e-09 |
| TC | SAMD4A | exon_skip_58930 | -5.165790e-01 | 2.701926e-12 |
| TC | HNRNPF | exon_skip_58930 | -4.958375e-01 | 2.615554e-11 |
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RelatedDrugs for C1D |
| 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 C1D |
| 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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