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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 POC1B |
 Gene summary |
| Gene information | Gene symbol | POC1B | Gene ID | 282809 |
| Gene name | POC1 centriolar protein B | |
| Synonyms | CORD20|PIX1|TUWD12|WDR51B | |
| Cytomap | 12q21.33 | |
| Type of gene | protein-coding | |
| Description | POC1 centriolar protein homolog BWD repeat-containing protein 51Bproteome of centriole protein 1B | |
| 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 POC1B |
| 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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ENSG00000139323
| 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 POC1B |
| 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_109345 | chr12 | 89466770:89466922:89467617:89467685:89470361:89470405 | 89467617:89467685 |
| exon_skip_118188 | chr12 | 89459671:89459718:89460016:89460038:89466770:89466922 | 89460016:89460038 |
| exon_skip_119381 | chr12 | 89467617:89467685:89470361:89470494:89471614:89471729 | 89470361:89470494 |
| exon_skip_129641 | chr12 | 89425287:89425379:89459638:89459718:89466770:89466922 | 89459638:89459718 |
| exon_skip_152271 | chr12 | 89472168:89472275:89491936:89492115:89497171:89497342 | 89491936:89492115 |
| exon_skip_187075 | chr12 | 89470361:89470494:89471614:89471729:89472168:89472275 | 89471614:89471729 |
| exon_skip_202207 | chr12 | 89491950:89492115:89497171:89497342:89525120:89525204 | 89497171:89497342 |
| exon_skip_228457 | chr12 | 89421154:89421257:89425161:89425379:89459638:89459718 | 89425161:89425379 |
| exon_skip_23240 | chr12 | 89491936:89492115:89497039:89497342:89525120:89525204 | 89497039:89497342 |
| exon_skip_263100 | chr12 | 89491936:89492115:89497171:89497342:89525120:89525204 | 89497171:89497342 |
| exon_skip_44502 | chr12 | 89466770:89466922:89467617:89467685:89491936:89492115 | 89467617:89467685 |
| 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 POC1B |
| 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 |
| ENST00000313546 | 89471614 | 89471729 | Frame-shift |
| ENST00000313546 | 89497171 | 89497342 | Frame-shift |
| ENST00000313546 | 89425161 | 89425379 | In-frame |
| ENST00000313546 | 89459638 | 89459718 | In-frame |
| ENST00000313546 | 89491936 | 89492115 | 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 |
| ENST00000313546 | 89471614 | 89471729 | Frame-shift |
| ENST00000313546 | 89497171 | 89497342 | Frame-shift |
| ENST00000313546 | 89425161 | 89425379 | In-frame |
| ENST00000313546 | 89459638 | 89459718 | 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 |
| ENST00000313546 | 89470361 | 89470494 | Frame-shift |
| ENST00000313546 | 89471614 | 89471729 | Frame-shift |
| ENST00000313546 | 89497171 | 89497342 | Frame-shift |
| ENST00000313546 | 89425161 | 89425379 | In-frame |
| ENST00000313546 | 89459638 | 89459718 | In-frame |
| ENST00000313546 | 89467617 | 89467685 | In-frame |
| ENST00000313546 | 89491936 | 89492115 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POC1B |
p-ENSG00000139323_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 |
| ENST00000313546 | 3018 | 478 | 89491936 | 89492115 | 402 | 580 | 91 | 150 |
| ENST00000313546 | 3018 | 478 | 89459638 | 89459718 | 1162 | 1241 | 344 | 370 |
| ENST00000313546 | 3018 | 478 | 89425161 | 89425379 | 1243 | 1460 | 371 | 443 |
| 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 |
| ENST00000313546 | 3018 | 478 | 89459638 | 89459718 | 1162 | 1241 | 344 | 370 |
| ENST00000313546 | 3018 | 478 | 89425161 | 89425379 | 1243 | 1460 | 371 | 443 |
| 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 |
| ENST00000313546 | 3018 | 478 | 89491936 | 89492115 | 402 | 580 | 91 | 150 |
| ENST00000313546 | 3018 | 478 | 89467617 | 89467685 | 940 | 1007 | 270 | 292 |
| ENST00000313546 | 3018 | 478 | 89459638 | 89459718 | 1162 | 1241 | 344 | 370 |
| ENST00000313546 | 3018 | 478 | 89425161 | 89425379 | 1243 | 1460 | 371 | 443 |
| 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 |
| Q8TC44 | 91 | 150 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 91 | 150 | 106 | 106 | Natural variant | ID=VAR_071917;Note=In CORD20%3B disrupts interaction with FAM161A%3B localization of the mutant is cytosolic without enrichment at specific subcellular sites. R->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24945461,ECO: |
| Q8TC44 | 91 | 150 | 58 | 99 | Repeat | Note=WD 2 |
| Q8TC44 | 91 | 150 | 101 | 139 | Repeat | Note=WD 3 |
| Q8TC44 | 91 | 150 | 142 | 181 | Repeat | Note=WD 4 |
| Q8TC44 | 344 | 370 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 344 | 370 | 370 | 375 | Compositional bias | Note=Poly-Thr |
| Q8TC44 | 371 | 443 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 371 | 443 | 431 | 470 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TC44 | 371 | 443 | 370 | 375 | Compositional bias | Note=Poly-Thr |
| 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 |
| Q8TC44 | 344 | 370 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 344 | 370 | 370 | 375 | Compositional bias | Note=Poly-Thr |
| Q8TC44 | 371 | 443 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 371 | 443 | 431 | 470 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TC44 | 371 | 443 | 370 | 375 | Compositional bias | Note=Poly-Thr |
| 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 |
| Q8TC44 | 91 | 150 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 91 | 150 | 106 | 106 | Natural variant | ID=VAR_071917;Note=In CORD20%3B disrupts interaction with FAM161A%3B localization of the mutant is cytosolic without enrichment at specific subcellular sites. R->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24945461,ECO: |
| Q8TC44 | 91 | 150 | 58 | 99 | Repeat | Note=WD 2 |
| Q8TC44 | 91 | 150 | 101 | 139 | Repeat | Note=WD 3 |
| Q8TC44 | 91 | 150 | 142 | 181 | Repeat | Note=WD 4 |
| Q8TC44 | 270 | 292 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 270 | 292 | 268 | 307 | Repeat | Note=WD 7 |
| Q8TC44 | 344 | 370 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 344 | 370 | 370 | 375 | Compositional bias | Note=Poly-Thr |
| Q8TC44 | 371 | 443 | 1 | 478 | Chain | ID=PRO_0000051410;Note=POC1 centriolar protein homolog B |
| Q8TC44 | 371 | 443 | 431 | 470 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TC44 | 371 | 443 | 370 | 375 | Compositional bias | Note=Poly-Thr |
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3'-UTR located exon skipping events that lost miRNA binding sites in POC1B |
| 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 POC1B |
| - 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 POC1B |
| 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 POC1B |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_118188 | rs11105308 | chr12:89513233 | 1.721899e-08 | 4.047213e-06 |
| HCC | exon_skip_118188 | rs10858883 | chr12:89499571 | 3.121337e-08 | 6.974968e-06 |
| HCC | exon_skip_118188 | rs10858891 | chr12:89513697 | 3.385037e-07 | 6.077687e-05 |
| HCC | exon_skip_118188 | rs7295439 | chr12:89431345 | 4.059486e-05 | 4.212881e-03 |
| HCC | exon_skip_118188 | rs10858888 | chr12:89507840 | 2.129018e-04 | 1.703576e-02 |
| HCC | exon_skip_118188 | rs11105315 | chr12:89530978 | 2.129018e-04 | 1.703576e-02 |
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Correlation with RNA binding proteins (RBPs) for POC1B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RALYL | exon_skip_118188 | 4.926990e-01 | 4.616997e-09 |
| HCC | MSI1 | exon_skip_118188 | -4.526265e-01 | 8.654185e-15 |
| HCC | PTBP1 | exon_skip_118188 | -4.324782e-01 | 1.671136e-13 |
| IFG | PTBP3 | exon_skip_118188 | 4.056586e-01 | 4.921544e-02 |
| PCC | MSI1 | exon_skip_118188 | -4.295394e-01 | 6.242349e-10 |
| PCC | PTBP1 | exon_skip_118188 | -4.798909e-01 | 2.456296e-12 |
| TC | ELAVL4 | exon_skip_118188 | 6.328200e-01 | 1.315278e-18 |
| TC | RALYL | exon_skip_118188 | 6.142090e-01 | 2.427456e-17 |
| TC | NOVA1 | exon_skip_118188 | 4.074810e-01 | 1.563249e-07 |
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RelatedDrugs for POC1B |
| 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 POC1B |
| 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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