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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 C11orf49 |
 Gene summary |
| Gene information | Gene symbol | C11orf49 | Gene ID | 79096 |
| Gene name | chromosome 11 open reading frame 49 | |
| Synonyms | - | |
| Cytomap | 11p11.2 | |
| Type of gene | protein-coding | |
| Description | UPF0705 protein C11orf49 | |
| 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 C11orf49 |
| 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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ENSG00000149179
| 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 |
| CB | DOWN | ENST00000525895.5 | C11orf49-207:nonsense_mediated_decay:C11orf49 | 1.928527e+02 | -1.587591e+00 | 8.818363e-10 | 3.938869e-08 |
| 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 C11orf49 |
| 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_100389 | chr11 | 46987208:46987310:47052388:47052518:47137645:47137729 | 47052388:47052518 |
| exon_skip_109466 | chr11 | 46987208:46987310:46991543:46991647:47052388:47052515 | 46991543:46991647 |
| exon_skip_133877 | chr11 | 46936780:46936851:46987208:46987310:47137645:47137729 | 46987208:46987310 |
| exon_skip_152000 | chr11 | 47052388:47052518:47137316:47137560:47137645:47137729 | 47137316:47137560 |
| exon_skip_172738 | chr11 | 46991543:46991647:47052388:47052518:47137645:47137729 | 47052388:47052518 |
| exon_skip_175131 | chr11 | 47052490:47052518:47137316:47137560:47137645:47137729 | 47137316:47137560 |
| exon_skip_18508 | chr11 | 46936779:46936851:46948026:46948164:46987208:46987310 | 46948026:46948164 |
| exon_skip_191107 | chr11 | 47157023:47157218:47157813:47157922:47161127:47161190 | 47157813:47157922 |
| exon_skip_192321 | chr11 | 46936780:46936851:47052388:47052518:47137645:47137729 | 47052388:47052518 |
| exon_skip_266582 | chr11 | 47052461:47052518:47137316:47137560:47137645:47137729 | 47137316:47137560 |
| exon_skip_276980 | chr11 | 46936780:46936851:46987208:46987310:47052388:47052515 | 46987208:46987310 |
| exon_skip_277255 | chr11 | 46936780:46936851:46987208:46987310:47052388:47052458 | 46987208:46987310 |
| exon_skip_31900 | chr11 | 47157813:47157922:47161127:47161190:47164093:47164385 | 47161127:47161190 |
| exon_skip_39404 | chr11 | 47052397:47052518:47137316:47137560:47137645:47137729 | 47137316:47137560 |
| exon_skip_53078 | chr11 | 47155176:47155261:47157023:47157218:47157813:47157872 | 47157023:47157218 |
| exon_skip_58305 | chr11 | 46936780:46936851:46987208:46987310:46991543:46991647 | 46987208:46987310 |
| exon_skip_79863 | chr11 | 46936780:46936851:46987208:46987310:47052388:47052518 | 46987208:46987310 |
| exon_skip_81418 | chr11 | 47155176:47155261:47157023:47157218:47157813:47157922 | 47157023:47157218 |
| exon_skip_84844 | chr11 | 46987208:46987310:46991543:46991647:47052388:47052458 | 46991543:46991647 |
| exon_skip_85112 | chr11 | 46987208:46987310:47023339:47023394:47052388:47052515 | 47023339:47023394 |
| exon_skip_86177 | chr11 | 46987208:46987310:46991543:46991647:47052388:47052518 | 46991543:46991647 |
| exon_skip_8972 | chr11 | 46987213:46987310:47052388:47052518:47137645:47137729 | 47052388:47052518 |
| 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 C11orf49 |
| 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 |
| ENST00000278460 | 46987208 | 46987310 | Frame-shift |
| ENST00000278460 | 47052388 | 47052518 | Frame-shift |
| ENST00000278460 | 47157023 | 47157218 | 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 |
| ENST00000278460 | 46987208 | 46987310 | Frame-shift |
| ENST00000278460 | 47052388 | 47052518 | 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 |
| ENST00000278460 | 46987208 | 46987310 | Frame-shift |
| ENST00000278460 | 47052388 | 47052518 | Frame-shift |
| ENST00000278460 | 47157023 | 47157218 | Frame-shift |
| ENST00000278460 | 47157813 | 47157922 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C11orf49 |
p-ENSG00000149179_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 C11orf49 |
| 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 C11orf49 |
| - 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 C11orf49 |
| 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 C11orf49 |
| 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 C11orf49 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for C11orf49 |
| 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 C11orf49 |
| 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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