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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for CEP83 |
Gene summary |
Gene information | Gene symbol | CEP83 | Gene ID | 51134 |
Gene name | centrosomal protein 83 | |
Synonyms | CCDC41|NPHP18|NY-REN-58 | |
Cytomap | 12q22 | |
Type of gene | protein-coding | |
Description | centrosomal protein of 83 kDaNY-REN-58 antigencoiled-coil domain-containing protein 41renal carcinoma antigen NY-REN-58 | |
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 CEP83 |
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. |
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 |
CB | DOWN | ENST00000397807.6 | CEP83-202:protein_coding:CEP83 | 6.089592e+01 | -8.232023e-01 | 1.527245e-03 | 7.367767e-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 CEP83 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_109239 | chr12 | 94312931:94313017:94328205:94328308:94331700:94331798 | 94328205:94328308 |
exon_skip_202652 | chr12 | 94412318:94412591:94435275:94435327:94459557:94459946 | 94435275:94435327 |
exon_skip_227470 | chr12 | 94331700:94331829:94333482:94333639:94335589:94335664 | 94333482:94333639 |
exon_skip_276582 | chr12 | 94369953:94370036:94375886:94376017:94378791:94379042 | 94375886:94376017 |
exon_skip_31345 | chr12 | 94312931:94313017:94328205:94328308:94331700:94331829 | 94328205:94328308 |
exon_skip_9647 | chr12 | 94412318:94412591:94435275:94435327:94459557:94459678 | 94435275:94435327 |
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 CEP83 |
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 |
ENST00000397809 | 94435275 | 94435327 | 3UTR-3UTR |
ENST00000339839 | 94375886 | 94376017 | In-frame |
ENST00000397809 | 94375886 | 94376017 | 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 |
ENST00000397809 | 94435275 | 94435327 | 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 |
ENST00000397809 | 94435275 | 94435327 | 3UTR-3UTR |
ENST00000339839 | 94333482 | 94333639 | Frame-shift |
ENST00000397809 | 94333482 | 94333639 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CEP83 |
p-ENSG00000173588_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 CEP83 |
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 | ENST00000397809 | 94435275 | 94435327 | hsa-miR-378j | chr12:94435304-94435311 | 8mer-1a | chr12:94435287-94435311 | 159.00 | -23.08 |
Mayo | ENST00000397809 | 94435275 | 94435327 | hsa-miR-4739 | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
Mayo | ENST00000397809 | 94435275 | 94435327 | hsa-miR-4756-5p | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
Mayo | ENST00000397809 | 94435275 | 94435327 | hsa-miR-135a-3p | chr12:94435319-94435326 | 8mer-1a | chr12:94435305-94435326 | 148.00 | -22.78 |
Mayo | ENST00000397809 | 94435275 | 94435327 | hsa-miR-6839-5p | chr12:94435304-94435311 | 8mer-1a | chr12:94435287-94435311 | 159.00 | -23.08 |
Mayo | ENST00000397809 | 94435275 | 94435327 | hsa-miR-1321 | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
MSBB | ENST00000397809 | 94435275 | 94435327 | hsa-miR-378j | chr12:94435304-94435311 | 8mer-1a | chr12:94435287-94435311 | 159.00 | -23.08 |
MSBB | ENST00000397809 | 94435275 | 94435327 | hsa-miR-4739 | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
MSBB | ENST00000397809 | 94435275 | 94435327 | hsa-miR-4756-5p | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
MSBB | ENST00000397809 | 94435275 | 94435327 | hsa-miR-135a-3p | chr12:94435319-94435326 | 8mer-1a | chr12:94435305-94435326 | 148.00 | -22.78 |
MSBB | ENST00000397809 | 94435275 | 94435327 | hsa-miR-6839-5p | chr12:94435304-94435311 | 8mer-1a | chr12:94435287-94435311 | 159.00 | -23.08 |
MSBB | ENST00000397809 | 94435275 | 94435327 | hsa-miR-1321 | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
ROSMAP | ENST00000397809 | 94435275 | 94435327 | hsa-miR-378j | chr12:94435304-94435311 | 8mer-1a | chr12:94435287-94435311 | 159.00 | -23.08 |
ROSMAP | ENST00000397809 | 94435275 | 94435327 | hsa-miR-4739 | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
ROSMAP | ENST00000397809 | 94435275 | 94435327 | hsa-miR-4756-5p | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
ROSMAP | ENST00000397809 | 94435275 | 94435327 | hsa-miR-135a-3p | chr12:94435319-94435326 | 8mer-1a | chr12:94435305-94435326 | 148.00 | -22.78 |
ROSMAP | ENST00000397809 | 94435275 | 94435327 | hsa-miR-6839-5p | chr12:94435304-94435311 | 8mer-1a | chr12:94435287-94435311 | 159.00 | -23.08 |
ROSMAP | ENST00000397809 | 94435275 | 94435327 | hsa-miR-1321 | chr12:94435317-94435324 | 8mer-1a | chr12:94435306-94435324 | 151.00 | -25.37 |
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SNVs in the skipped exons for CEP83 |
- 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 CEP83 |
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 CEP83 |
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 CEP83 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CEP83 |
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 CEP83 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |