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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 POT1 |
 Gene summary |
| Gene information | Gene symbol | POT1 | Gene ID | 25913 |
| Gene name | protection of telomeres 1 | |
| Synonyms | CMM10|GLM9|HPOT1 | |
| Cytomap | 7q31.33 | |
| Type of gene | protein-coding | |
| Description | protection of telomeres protein 1POT1-like telomere end-binding proteinprotection of telomeres 1 homolog | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R739, A0A590UJF2, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| POT1 | GO:0007004 | telomere maintenance via telomerase | 12768206 |
| POT1 | GO:0032202 | telomere assembly | 16043710 |
| POT1 | GO:0032212 | positive regulation of telomere maintenance via telomerase | 17237768 |
| POT1 | GO:0032508 | DNA duplex unwinding | 16030011 |
| POT1 | GO:0051096 | positive regulation of helicase activity | 16030011 |
| POT1 | GO:0051973 | positive regulation of telomerase activity | 16043710|17237768 |
| POT1 | GO:0051974 | negative regulation of telomerase activity | 15632080 |
| POT1 | GO:0060383 | positive regulation of DNA strand elongation | 16043710 |
| POT1 | GO:1905774 | regulation of DNA helicase activity | 19734539 |
| POT1 | GO:1905776 | positive regulation of DNA helicase activity | 19734539 |
| POT1 | GO:2001032 | regulation of double-strand break repair via nonhomologous end joining | 29227966 |
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Gene structures and expression levels for POT1 |
| 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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ENSG00000128513
| 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 | ENST00000657213.1 | POT1-AS1-217:lncRNA:POT1 | 1.894044e+00 | 1.069492e+00 | 5.633481e-04 | 3.188145e-03 |
| CB | UP | ENST00000654766.1 | POT1-222:protein_coding:POT1 | 1.057322e+01 | 1.488448e+00 | 2.488846e-03 | 1.104796e-02 |
| CB | DOWN | ENST00000667489.1 | POT1-AS1-227:lncRNA:POT1 | 7.752703e-01 | -1.471473e+00 | 3.203240e-03 | 1.361623e-02 |
| 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 POT1 |
| 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_109923 | chr7 | 124827214:124827305:124835279:124835414:124840973:124841178 | 124835279:124835414 |
| exon_skip_111966 | chr7 | 124870945:124871041:124882443:124882466:124892266:124892380 | 124882443:124882466 |
| exon_skip_121968 | chr7 | 124892374:124892380:124892702:124892815:124897165:124897184 | 124892702:124892815 |
| exon_skip_165249 | chr7 | 124842937:124842963:124846942:124846998:124851872:124851951 | 124846942:124846998 |
| exon_skip_180072 | chr7 | 124829254:124829342:124835279:124835414:124840973:124841135 | 124835279:124835414 |
| exon_skip_20394 | chr7 | 124859046:124859112:124863350:124863640:124870911:124871041 | 124863350:124863640 |
| exon_skip_207966 | chr7 | 124897165:124897212:124897460:124897595:124898261:124898374 | 124897460:124897595 |
| exon_skip_238128 | chr7 | 124827214:124827305:124835279:124835414:124840973:124841135 | 124835279:124835414 |
| exon_skip_250533 | chr7 | 124863350:124863640:124870911:124871041:124892266:124892380 | 124870911:124871041 |
| exon_skip_273134 | chr7 | 124870911:124871041:124882443:124882466:124892266:124892380 | 124882443:124882466 |
| exon_skip_292889 | chr7 | 124827214:124827305:124829254:124829342:124835279:124835414 | 124829254:124829342 |
| exon_skip_41218 | chr7 | 124846942:124846998:124851872:124851951:124852972:124853138 | 124851872:124851951 |
| exon_skip_55328 | chr7 | 124898261:124898374:124915574:124915646:124928815:124928999 | 124915574:124915646 |
| exon_skip_55400 | chr7 | 124846942:124846998:124848540:124848659:124851872:124851951 | 124848540:124848659 |
| exon_skip_61951 | chr7 | 124827429:124827574:124829254:124829342:124835279:124835414 | 124829254:124829342 |
| 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 POT1 |
| 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 |
| ENST00000357628 | 124915574 | 124915646 | 3UTR-3UTR |
| ENST00000357628 | 124829254 | 124829342 | Frame-shift |
| ENST00000357628 | 124870911 | 124871041 | 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 |
| ENST00000357628 | 124829254 | 124829342 | Frame-shift |
| ENST00000357628 | 124870911 | 124871041 | 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 |
| ENST00000357628 | 124915574 | 124915646 | 3UTR-3UTR |
| ENST00000357628 | 124829254 | 124829342 | Frame-shift |
| ENST00000357628 | 124835279 | 124835414 | Frame-shift |
| ENST00000357628 | 124851872 | 124851951 | Frame-shift |
| ENST00000357628 | 124870911 | 124871041 | Frame-shift |
| ENST00000357628 | 124846942 | 124846998 | In-frame |
| ENST00000357628 | 124863350 | 124863640 | In-frame |
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Infer the effects of exon skipping event on protein functional features for POT1 |
p-ENSG00000128513_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 |
| ENST00000357628 | 4097 | 634 | 124863350 | 124863640 | 855 | 1144 | 85 | 181 |
| ENST00000357628 | 4097 | 634 | 124846942 | 124846998 | 1549 | 1604 | 316 | 335 |
| 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 |
| Q9NUX5 | 85 | 181 | 78 | 89 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
| Q9NUX5 | 85 | 181 | 92 | 106 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
| Q9NUX5 | 85 | 181 | 161 | 173 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
| Q9NUX5 | 85 | 181 | 175 | 184 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
| Q9NUX5 | 85 | 181 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
| Q9NUX5 | 85 | 181 | 127 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
| Q9NUX5 | 85 | 181 | 153 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XJV |
| Q9NUX5 | 85 | 181 | 89 | 89 | Natural variant | ID=VAR_071390;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777 |
| Q9NUX5 | 85 | 181 | 94 | 94 | Natural variant | ID=VAR_071391;Note=In CMM10%3B complete abolition of POT1-DNA complex formation%2C thus disrupting the interaction with telomeres and leading to elongated telomeres. Q->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686849;Dbxref=dbSNP:rs587777 |
| Q9NUX5 | 85 | 181 | 95 | 95 | Natural variant | ID=VAR_075717;Note=In GLM9. G->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25482530;Dbxref=dbSNP:rs797045168,PMID:25482530 |
| Q9NUX5 | 85 | 181 | 137 | 137 | Natural variant | ID=VAR_071392;Note=In CMM10%3B increased telomere intensity signals and telomere fragility. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24686846;Dbxref=dbSNP:rs587777475,PMID:24686846 |
| Q9NUX5 | 316 | 335 | 334 | 339 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5UN7 |
| Q9NUX5 | 316 | 335 | 1 | 634 | Chain | ID=PRO_0000121728;Note=Protection of telomeres protein 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in POT1 |
| 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 | ENST00000357628 | 124915574 | 124915646 | hsa-miR-19a-5p | chr7:124915589-124915596 | 8mer-1a | chr7:124915576-124915596 | 170.00 | -18.10 |
| Mayo | ENST00000357628 | 124915574 | 124915646 | hsa-miR-19b-1-5p | chr7:124915589-124915596 | 8mer-1a | chr7:124915576-124915596 | 170.00 | -18.10 |
| Mayo | ENST00000357628 | 124915574 | 124915646 | hsa-miR-302d-5p | chr7:124915618-124915625 | 8mer-1a | chr7:124915612-124915631 | 148.00 | -16.19 |
| Mayo | ENST00000357628 | 124915574 | 124915646 | hsa-miR-302b-5p | chr7:124915618-124915625 | 8mer-1a | chr7:124915612-124915631 | 148.00 | -16.19 |
| Mayo | ENST00000357628 | 124915574 | 124915646 | hsa-miR-19b-2-5p | chr7:124915589-124915596 | 8mer-1a | chr7:124915576-124915596 | 170.00 | -18.10 |
| ROSMAP | ENST00000357628 | 124915574 | 124915646 | hsa-miR-19a-5p | chr7:124915589-124915596 | 8mer-1a | chr7:124915576-124915596 | 170.00 | -18.10 |
| ROSMAP | ENST00000357628 | 124915574 | 124915646 | hsa-miR-19b-1-5p | chr7:124915589-124915596 | 8mer-1a | chr7:124915576-124915596 | 170.00 | -18.10 |
| ROSMAP | ENST00000357628 | 124915574 | 124915646 | hsa-miR-302d-5p | chr7:124915618-124915625 | 8mer-1a | chr7:124915612-124915631 | 148.00 | -16.19 |
| ROSMAP | ENST00000357628 | 124915574 | 124915646 | hsa-miR-302b-5p | chr7:124915618-124915625 | 8mer-1a | chr7:124915612-124915631 | 148.00 | -16.19 |
| ROSMAP | ENST00000357628 | 124915574 | 124915646 | hsa-miR-19b-2-5p | chr7:124915589-124915596 | 8mer-1a | chr7:124915576-124915596 | 170.00 | -18.10 |
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SNVs in the skipped exons for POT1 |
| - 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 POT1 |
| 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 POT1 |
| 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 POT1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM3 | exon_skip_292889 | 4.424976e-01 | 7.305563e-09 |
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RelatedDrugs for POT1 |
| 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 POT1 |
| 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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