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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180522 | |
| UniProtAcc | P54274 | |
| Context | PubMed: TERF1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for TERF1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for TERF1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TERF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484058 | 8 | 73921111:73921440:73926129:73926225:73932918:73933040 | 73926129:73926225 | ENSG00000147601.9 | ENST00000276602.6 |
| exon_skip_484059 | 8 | 73934467:73934537:73937056:73937206:73939174:73939271 | 73937056:73937206 | ENSG00000147601.9 | ENST00000522018.1,ENST00000517390.1,ENST00000276603.5,ENST00000276602.6 |
| exon_skip_484062 | 8 | 73939174:73939287:73942570:73942630:73944276:73944368 | 73942570:73942630 | ENSG00000147601.9 | ENST00000276603.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TERF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484058 | 8 | 73921111:73921440:73926129:73926225:73932918:73933040 | 73926129:73926225 | ENSG00000147601.9 | ENST00000276602.6 |
| exon_skip_484059 | 8 | 73934467:73934537:73937056:73937206:73939174:73939271 | 73937056:73937206 | ENSG00000147601.9 | ENST00000276603.5,ENST00000276602.6,ENST00000517390.1,ENST00000522018.1 |
| exon_skip_484062 | 8 | 73939174:73939287:73942570:73942630:73944276:73944368 | 73942570:73942630 | ENSG00000147601.9 | ENST00000276603.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000276603 | 73937056 | 73937206 | In-frame |
| ENST00000276603 | 73942570 | 73942630 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000276603 | 73937056 | 73937206 | In-frame |
| ENST00000276603 | 73942570 | 73942630 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TERF1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 73937056 | 73937206 | 648 | 797 | 208 | 258 |
| ENST00000276603 | 1694 | 439 | 73942570 | 73942630 | 911 | 970 | 296 | 315 |
| Loci of skipped exons in GTEx 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 | 73937056 | 73937206 | 648 | 797 | 208 | 258 |
| ENST00000276603 | 1694 | 439 | 73942570 | 73942630 | 911 | 970 | 296 | 315 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 | 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 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 | 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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SNVs in the skipped exons for TERF1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
TERF1_HNSC_exon_skip_484062_psi_boxplot.png |
TERF1_OV_exon_skip_484059_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| OV | TCGA-13-0726-01 | exon_skip_484059 | 73937057 | 73937206 | 73937056 | 73937056 | Splice_Site | G | A | e5-1 |
| HNSC | TCGA-CV-5439-01 | exon_skip_484062 | 73942571 | 73942630 | 73942569 | 73942569 | Splice_Site | A | G | p.S296_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-5439-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_484062 | |
| Skipped exon start: 73942571 | |
| Skipped exon end: 73942630 | |
| Mutation start: 73942569 | |
| Mutation end: 73942569 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: p.S296_splice | |
exon_skip_484062_HNSC_TCGA-CV-5439-01.png | |
 | Sample: TCGA-13-0726-01 |
| Cancer type: OV | |
| ESID: exon_skip_484059 | |
| Skipped exon start: 73937057 | |
| Skipped exon end: 73937206 | |
| Mutation start: 73937056 | |
| Mutation end: 73937056 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: e5-1 | |
exon_skip_156468_OV_TCGA-13-0726-01.png | |
exon_skip_484059_OV_TCGA-13-0726-01.png | |
| - 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 |
| SKES1_BONE | 73926130 | 73926225 | 73926132 | 73926132 | Missense_Mutation | A | G | p.I108V |
| EN_ENDOMETRIUM | 73926130 | 73926225 | 73926139 | 73926139 | Missense_Mutation | A | G | p.H110R |
| HEC108_ENDOMETRIUM | 73926130 | 73926225 | 73926184 | 73926184 | Missense_Mutation | T | C | p.I125T |
| NCIH647_LUNG | 73926130 | 73926225 | 73926189 | 73926189 | Missense_Mutation | C | A | p.Q127K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TERF1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TERF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TERF1 |
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RelatedDrugs for TERF1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | 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 |
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