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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 C1RL |
 Gene summary |
| Gene information | Gene symbol | C1RL | Gene ID | 51279 |
| Gene name | complement C1r subcomponent like | |
| Synonyms | C1RL1|C1RLP|C1r-LP|CLSPa | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | complement C1r subcomponent-like proteinC1r-like proteinC1r-like serine protease analog proteincomplement C1r-like proteinasecomplement component 1, r subcomponent-like | |
| 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 |
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Gene structures and expression levels for C1RL |
| 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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ENSG00000139178
| 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 |
| TC | UP | ENST00000539803.5 | C1RL-206:nonsense_mediated_decay:C1RL | 4.951921e+00 | 9.684023e-01 | 5.892441e-05 | 1.062725e-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 C1RL |
| 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_157425 | chr12 | 7097154:7097163:7099686:7099760:7101898:7102085 | 7099686:7099760 |
| exon_skip_17210 | chr12 | 7102004:7102087:7108251:7108479:7109110:7109128 | 7108251:7108479 |
| exon_skip_182661 | chr12 | 7099686:7099807:7099901:7100026:7101898:7102085 | 7099901:7100026 |
| exon_skip_188158 | chr12 | 7102004:7102087:7108251:7108479:7109110:7109197 | 7108251:7108479 |
| exon_skip_275004 | chr12 | 7099686:7099760:7099901:7100026:7101898:7102085 | 7099901:7100026 |
| exon_skip_7992 | chr12 | 7096770:7097163:7099686:7099760:7101898:7102085 | 7099686:7099760 |
| exon_skip_90333 | chr12 | 7099901:7100026:7101898:7102087:7108251:7108299 | 7101898:7102087 |
| 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 C1RL |
| 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 |
| ENST00000266542 | 7101898 | 7102087 | Frame-shift |
| ENST00000266542 | 7108251 | 7108479 | Frame-shift |
| ENST00000266542 | 7099901 | 7100026 | In-frame |
| 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 |
| ENST00000266542 | 7108251 | 7108479 | Frame-shift |
| ENST00000266542 | 7099901 | 7100026 | In-frame |
| 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 |
| ENST00000266542 | 7108251 | 7108479 | Frame-shift |
| ENST00000266542 | 7099901 | 7100026 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C1RL |
p-ENSG00000139178_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 |
| ENST00000266542 | 3411 | 487 | 7099901 | 7100026 | 584 | 708 | 163 | 205 |
| 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 |
| ENST00000266542 | 3411 | 487 | 7099901 | 7100026 | 584 | 708 | 163 | 205 |
| 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 |
| ENST00000266542 | 3411 | 487 | 7099901 | 7100026 | 584 | 708 | 163 | 205 |
| 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 |
| Q9NZP8 | 163 | 205 | 36 | 487 | Chain | ID=PRO_0000318678;Note=Complement C1r subcomponent-like protein |
| Q9NZP8 | 163 | 205 | 39 | 163 | Domain | Note=CUB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
| Q9NZP8 | 163 | 205 | 166 | 166 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
| 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 |
| Q9NZP8 | 163 | 205 | 36 | 487 | Chain | ID=PRO_0000318678;Note=Complement C1r subcomponent-like protein |
| Q9NZP8 | 163 | 205 | 39 | 163 | Domain | Note=CUB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
| Q9NZP8 | 163 | 205 | 166 | 166 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
| 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 |
| Q9NZP8 | 163 | 205 | 36 | 487 | Chain | ID=PRO_0000318678;Note=Complement C1r subcomponent-like protein |
| Q9NZP8 | 163 | 205 | 39 | 163 | Domain | Note=CUB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00059 |
| Q9NZP8 | 163 | 205 | 166 | 166 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
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3'-UTR located exon skipping events that lost miRNA binding sites in C1RL |
| 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 C1RL |
| - 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 C1RL |
| 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 C1RL |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_275004 | rs3742088 | chr12:7102073 | 5.751217e-11 | 2.121554e-08 |
| HCC | exon_skip_275004 | rs10744062 | chr12:7161164 | 3.398473e-10 | 1.099813e-07 |
| HCC | exon_skip_275004 | rs3813736 | chr12:7122729 | 6.921032e-10 | 2.118115e-07 |
| HCC | exon_skip_275004 | rs17198507 | chr12:7141631 | 6.925308e-08 | 1.431406e-05 |
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Correlation with RNA binding proteins (RBPs) for C1RL |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for C1RL |
| 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 C1RL |
| 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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