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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 TERF1 |
 Gene summary |
| Gene information | Gene symbol | TERF1 | Gene ID | 7013 |
| Gene name | telomeric repeat binding factor 1 | |
| Synonyms | PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1 | |
| Cytomap | 8q21.11 | |
| Type of gene | protein-coding | |
| Description | telomeric repeat-binding factor 1NIMA-interacting protein 2TTAGGG repeat-binding factor 1telomeric protein Pin2/TRF1telomeric repeat binding factor (NIMA-interacting) 1 | |
| Modification date | 20200327 | |
| 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 |
| TERF1 | GO:0007004 | telomere maintenance via telomerase | 23685356 |
| TERF1 | GO:0008156 | negative regulation of DNA replication | 11327863 |
| TERF1 | GO:1905778 | negative regulation of exonuclease activity | 15200954 |
| TERF1 | GO:1905839 | negative regulation of telomeric D-loop disassembly | 15200954 |
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Gene structures and expression levels for TERF1 |
| 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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ENSG00000147601
| 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 | ENST00000520783.1 | TERF1-207:lncRNA:TERF1 | 2.997899e+00 | -2.116261e+00 | 1.971477e-04 | 1.314891e-03 |
| CB | DOWN | ENST00000518874.5 | TERF1-205:protein_coding:TERF1 | 3.798326e+00 | -1.448142e+00 | 4.665870e-04 | 2.716760e-03 |
| CB | DOWN | ENST00000419292.1 | MTERF1-203:protein_coding:MTERF1 | 1.562031e+01 | -3.490245e+00 | 3.247407e-03 | 1.377407e-02 |
| TC | DOWN | ENST00000520783.1 | TERF1-207:lncRNA:TERF1 | 2.126772e+00 | -1.758951e+00 | 5.334339e-03 | 3.519282e-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 TERF1 |
| 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_164758 | chr8 | 73022233:73022302:73024822:73024971:73026940:73027036 | 73024822:73024971 |
| exon_skip_296099 | chr8 | 73008877:73009205:73013895:73013990:73020684:73020805 | 73013895:73013990 |
| exon_skip_66005 | chr8 | 73032042:73032133:73039116:73039219:73045961:73046975 | 73039116:73039219 |
| exon_skip_95343 | chr8 | 73026940:73027052:73030336:73030395:73032042:73032133 | 73030336:73030395 |
| 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_95343 | ROSMAP_PCC | 7.203150e-01 | 8.366667e-01 | -1.163517e-01 | 2.900092e-04 |
| exon_skip_95343 | Mayo_CB | 2.268293e-01 | 4.271429e-01 | -2.003136e-01 | 2.401074e-08 |
| exon_skip_95343 | Mayo_TC | 6.193902e-01 | 7.474359e-01 | -1.280457e-01 | 5.771425e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for TERF1 |
| 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 |
| ENST00000276603 | 73013895 | 73013990 | In-frame |
| ENST00000276603 | 73030336 | 73030395 | 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 |
| ENST00000276603 | 73013895 | 73013990 | In-frame |
| ENST00000276603 | 73030336 | 73030395 | 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 |
| ENST00000276603 | 73039116 | 73039219 | Frame-shift |
| ENST00000276603 | 73013895 | 73013990 | In-frame |
| ENST00000276603 | 73024822 | 73024971 | In-frame |
| ENST00000276603 | 73030336 | 73030395 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TERF1 |
p-ENSG00000147601_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 |
| ENST00000276603 | 1694 | 439 | 73013895 | 73013990 | 344 | 438 | 107 | 138 |
| ENST00000276603 | 1694 | 439 | 73030336 | 73030395 | 912 | 970 | 296 | 315 |
| 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 |
| ENST00000276603 | 1694 | 439 | 73013895 | 73013990 | 344 | 438 | 107 | 138 |
| ENST00000276603 | 1694 | 439 | 73030336 | 73030395 | 912 | 970 | 296 | 315 |
| 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 |
| ENST00000276603 | 1694 | 439 | 73013895 | 73013990 | 344 | 438 | 107 | 138 |
| ENST00000276603 | 1694 | 439 | 73024822 | 73024971 | 649 | 797 | 208 | 258 |
| ENST00000276603 | 1694 | 439 | 73030336 | 73030395 | 912 | 970 | 296 | 315 |
| 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 |
| P54274 | 107 | 138 | 113 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L82 |
| P54274 | 107 | 138 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 107 | 138 | 95 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 107 | 138 | 117 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 107 | 138 | 115 | 115 | Mutagenesis | Note=Loss of interaction with FBXO4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20159592;Dbxref=PMID:20159592 |
| P54274 | 107 | 138 | 120 | 120 | Mutagenesis | Note=Loss of interaction with FBXO4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20159592;Dbxref=PMID:20159592 |
| P54274 | 107 | 138 | 58 | 268 | Region | Note=TRFH dimerization |
| P54274 | 107 | 138 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 296 | 315 | 296 | 315 | Alternative sequence | ID=VSP_003303;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9326950,ECO:0000303|PubMed:9391075;Dbxref=PMID:15489334,PMID:9326950,PMID:9391075 |
| P54274 | 296 | 315 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 296 | 315 | 265 | 378 | Region | Note=Interaction with RLIM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19164295;Dbxref=PMID:19164295 |
| 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 |
| P54274 | 107 | 138 | 113 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L82 |
| P54274 | 107 | 138 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 107 | 138 | 95 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 107 | 138 | 117 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 107 | 138 | 115 | 115 | Mutagenesis | Note=Loss of interaction with FBXO4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20159592;Dbxref=PMID:20159592 |
| P54274 | 107 | 138 | 120 | 120 | Mutagenesis | Note=Loss of interaction with FBXO4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20159592;Dbxref=PMID:20159592 |
| P54274 | 107 | 138 | 58 | 268 | Region | Note=TRFH dimerization |
| P54274 | 107 | 138 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 296 | 315 | 296 | 315 | Alternative sequence | ID=VSP_003303;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9326950,ECO:0000303|PubMed:9391075;Dbxref=PMID:15489334,PMID:9326950,PMID:9391075 |
| P54274 | 296 | 315 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 296 | 315 | 265 | 378 | Region | Note=Interaction with RLIM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19164295;Dbxref=PMID:19164295 |
| 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 |
| P54274 | 107 | 138 | 113 | 115 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3L82 |
| P54274 | 107 | 138 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 107 | 138 | 95 | 110 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 107 | 138 | 117 | 133 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 107 | 138 | 115 | 115 | Mutagenesis | Note=Loss of interaction with FBXO4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20159592;Dbxref=PMID:20159592 |
| P54274 | 107 | 138 | 120 | 120 | Mutagenesis | Note=Loss of interaction with FBXO4. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20159592;Dbxref=PMID:20159592 |
| P54274 | 107 | 138 | 58 | 268 | Region | Note=TRFH dimerization |
| P54274 | 107 | 138 | 134 | 136 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 208 | 258 | 252 | 254 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1H6O |
| P54274 | 208 | 258 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 208 | 258 | 213 | 213 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| P54274 | 208 | 258 | 211 | 219 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 208 | 258 | 226 | 230 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 208 | 258 | 233 | 251 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 208 | 258 | 255 | 265 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3BQO |
| P54274 | 208 | 258 | 219 | 219 | Modified residue | Note=Phosphoserine%3B by ATM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11375976;Dbxref=PMID:11375976 |
| P54274 | 208 | 258 | 219 | 219 | Mutagenesis | Note=Loss of phosphorylation%3B induction of mitotic entry and apoptosis and increased radiation hypersensitivity of ataxia-telangiectasia cells. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11375976;Dbxref=PMID:11375976 |
| P54274 | 208 | 258 | 219 | 219 | Mutagenesis | Note=Fails to induce apoptosis and decreases radiation hypersensitivity of ataxia-telangiectasia cells (phospho-mimicking mutants). S->D%2CE;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11375976;Dbxref=PMID:11375976 |
| P54274 | 208 | 258 | 58 | 268 | Region | Note=TRFH dimerization |
| P54274 | 296 | 315 | 296 | 315 | Alternative sequence | ID=VSP_003303;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9326950,ECO:0000303|PubMed:9391075;Dbxref=PMID:15489334,PMID:9326950,PMID:9391075 |
| P54274 | 296 | 315 | 2 | 439 | Chain | ID=PRO_0000197129;Note=Telomeric repeat-binding factor 1 |
| P54274 | 296 | 315 | 265 | 378 | Region | Note=Interaction with RLIM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19164295;Dbxref=PMID:19164295 |
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3'-UTR located exon skipping events that lost miRNA binding sites in TERF1 |
| 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 TERF1 |
| - 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 TERF1 |
| 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 TERF1 |
| 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 TERF1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | HNRNPA2B1 | exon_skip_95343 | -4.773011e-01 | 2.003363e-10 |
| CB | RBM4B | exon_skip_95343 | -5.129254e-01 | 4.762354e-12 |
| IFG | EWSR1 | exon_skip_95343 | 4.450539e-01 | 1.763633e-02 |
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RelatedDrugs for TERF1 |
| 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 TERF1 |
| 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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