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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 CEP89 |
 Gene summary |
| Gene information | Gene symbol | CEP89 | Gene ID | 84902 |
| Gene name | centrosomal protein 89 | |
| Synonyms | CCDC123|CEP123 | |
| Cytomap | 19q13.11 | |
| Type of gene | protein-coding | |
| Description | centrosomal protein of 89 kDacentrosomal protein 123centrosomal protein 89kDacoiled-coil domain containing 123coiled-coil domain-containing protein 123, mitochondrial | |
| 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 CEP89 |
| 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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ENSG00000121289
| 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 | UP | ENST00000586984.6 | CEP89-203:nonsense_mediated_decay:CEP89 | 7.970909e+01 | 8.412435e-01 | 4.068864e-11 | 2.995336e-09 |
| CB | DOWN | ENST00000586628.2 | CEP89-202:lncRNA:CEP89 | 1.064899e+00 | -2.723995e+00 | 2.074584e-03 | 9.502893e-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 CEP89 |
| 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_103063 | chr19 | 32959900:32960058:32966360:32966466:32971836:32971916 | 32966360:32966466 |
| exon_skip_109553 | chr19 | 32931429:32931571:32933451:32933669:32937013:32937120 | 32933451:32933669 |
| exon_skip_11858 | chr19 | 32931429:32931571:32933451:32933669:32937631:32937673 | 32933451:32933669 |
| exon_skip_12939 | chr19 | 32926190:32926273:32926934:32926984:32931429:32931571 | 32926934:32926984 |
| exon_skip_134976 | chr19 | 32879009:32879378:32881844:32882013:32887752:32887841 | 32881844:32882013 |
| exon_skip_159891 | chr19 | 32887752:32887841:32899857:32899998:32901245:32901412 | 32899857:32899998 |
| exon_skip_169040 | chr19 | 32881844:32882013:32887752:32887841:32899857:32899998 | 32887752:32887841 |
| exon_skip_193631 | chr19 | 32937631:32937673:32939857:32939885:32948266:32948368 | 32939857:32939885 |
| exon_skip_223266 | chr19 | 32899857:32899998:32901245:32901412:32915337:32915517 | 32901245:32901412 |
| exon_skip_244779 | chr19 | 32918224:32918339:32923439:32923542:32926190:32926273 | 32923439:32923542 |
| exon_skip_292242 | chr19 | 32933451:32933669:32937013:32937120:32937631:32937673 | 32937013:32937120 |
| exon_skip_64413 | chr19 | 32918224:32918339:32923439:32923542:32926190:32926200 | 32923439:32923542 |
| exon_skip_8665 | chr19 | 32879068:32879378:32881844:32882013:32887752:32887841 | 32881844:32882013 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_244779 | Mayo_CB | 2.922222e-01 | 3.969565e-01 | -1.047343e-01 | 2.346428e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for CEP89 |
| 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 |
| ENST00000305768 | 32881844 | 32882013 | Frame-shift |
| ENST00000305768 | 32923439 | 32923542 | Frame-shift |
| ENST00000305768 | 32939857 | 32939885 | Frame-shift |
| ENST00000305768 | 32887752 | 32887841 | In-frame |
| ENST00000305768 | 32926934 | 32926984 | In-frame |
| ENST00000305768 | 32933451 | 32933669 | 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 |
| ENST00000305768 | 32899857 | 32899998 | Frame-shift |
| ENST00000305768 | 32923439 | 32923542 | Frame-shift |
| ENST00000305768 | 32926934 | 32926984 | 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 |
| ENST00000305768 | 32881844 | 32882013 | Frame-shift |
| ENST00000305768 | 32899857 | 32899998 | Frame-shift |
| ENST00000305768 | 32923439 | 32923542 | Frame-shift |
| ENST00000305768 | 32966360 | 32966466 | Frame-shift |
| ENST00000305768 | 32887752 | 32887841 | In-frame |
| ENST00000305768 | 32901245 | 32901412 | In-frame |
| ENST00000305768 | 32926934 | 32926984 | In-frame |
| ENST00000305768 | 32933451 | 32933669 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CEP89 |
p-ENSG00000121289_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 |
| ENST00000305768 | 5695 | 783 | 32933451 | 32933669 | 757 | 974 | 222 | 295 |
| ENST00000305768 | 5695 | 783 | 32926934 | 32926984 | 1119 | 1168 | 343 | 359 |
| ENST00000305768 | 5695 | 783 | 32887752 | 32887841 | 1965 | 2053 | 625 | 654 |
| 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 |
| ENST00000305768 | 5695 | 783 | 32926934 | 32926984 | 1119 | 1168 | 343 | 359 |
| 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 |
| ENST00000305768 | 5695 | 783 | 32933451 | 32933669 | 757 | 974 | 222 | 295 |
| ENST00000305768 | 5695 | 783 | 32926934 | 32926984 | 1119 | 1168 | 343 | 359 |
| ENST00000305768 | 5695 | 783 | 32901245 | 32901412 | 1655 | 1821 | 522 | 577 |
| ENST00000305768 | 5695 | 783 | 32887752 | 32887841 | 1965 | 2053 | 625 | 654 |
| 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 |
| Q96ST8 | 222 | 295 | 1 | 247 | Alternative sequence | ID=VSP_039181;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96ST8 | 222 | 295 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 222 | 295 | 234 | 333 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96ST8 | 343 | 359 | 344 | 356 | Alternative sequence | ID=VSP_039182;Note=In isoform 3. SLNIEGLPSKGPI->VTFPIVKISFSDF;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 343 | 359 | 357 | 782 | Alternative sequence | ID=VSP_039183;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 343 | 359 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 625 | 654 | 357 | 782 | Alternative sequence | ID=VSP_039183;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 625 | 654 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 625 | 654 | 369 | 719 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q96ST8 | 343 | 359 | 344 | 356 | Alternative sequence | ID=VSP_039182;Note=In isoform 3. SLNIEGLPSKGPI->VTFPIVKISFSDF;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 343 | 359 | 357 | 782 | Alternative sequence | ID=VSP_039183;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 343 | 359 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| 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 |
| Q96ST8 | 222 | 295 | 1 | 247 | Alternative sequence | ID=VSP_039181;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q96ST8 | 222 | 295 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 222 | 295 | 234 | 333 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96ST8 | 343 | 359 | 344 | 356 | Alternative sequence | ID=VSP_039182;Note=In isoform 3. SLNIEGLPSKGPI->VTFPIVKISFSDF;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 343 | 359 | 357 | 782 | Alternative sequence | ID=VSP_039183;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 343 | 359 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 522 | 577 | 357 | 782 | Alternative sequence | ID=VSP_039183;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 522 | 577 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 522 | 577 | 369 | 719 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q96ST8 | 625 | 654 | 357 | 782 | Alternative sequence | ID=VSP_039183;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96ST8 | 625 | 654 | 1 | 783 | Chain | ID=PRO_0000288809;Note=Centrosomal protein of 89 kDa |
| Q96ST8 | 625 | 654 | 369 | 719 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CEP89 |
| 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 CEP89 |
| - Differential PSIs between mutated versus non-mutated samples. |
ENSG00000121289.exon_skip_11858.Mayo_CB.WGS.boxplot.svg |
| - Depth of Coverage in the skipped exon of the mutated samples. |
ENSG00000121289.exon_skip_11858.Mayo_CB.1098_CER.WGS.svg |
| - Sashimi plot in the skipped exon of the mutated samples. |
ENSG00000121289.exon_skip_11858.Mayo_CB.1098_CER.WGS.png |
| - 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 CEP89 |
| 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 CEP89 |
| 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 CEP89 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_244779 | -5.483734e-01 | 3.758306e-13 |
| CB | SNRPA | exon_skip_244779 | -4.133119e-01 | 1.467146e-07 |
| CB | FUBP1 | exon_skip_244779 | -4.285856e-01 | 4.461184e-08 |
| CB | NUP42 | exon_skip_244779 | 4.169144e-01 | 1.113846e-07 |
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RelatedDrugs for CEP89 |
| 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 CEP89 |
| 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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