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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 PER1 |
 Gene summary |
| Gene information | Gene symbol | PER1 | Gene ID | 5187 |
| Gene name | period circadian regulator 1 | |
| Synonyms | PER|RIGUI|hPER | |
| Cytomap | 17p13.1 | |
| Type of gene | protein-coding | |
| Description | period circadian protein homolog 1Period, drosophila, homolog ofcircadian clock protein PERIOD 1circadian pacemaker protein RIGUIhPER1period circadian clock 1period homolog 1 | |
| 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 |
| PER1 | GO:0032922 | circadian regulation of gene expression | 18411297|24005054 |
| PER1 | GO:0043966 | histone H3 acetylation | 14645221 |
| PER1 | GO:0043967 | histone H4 acetylation | 14645221 |
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Gene structures and expression levels for PER1 |
| 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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ENSG00000179094
| 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 |
| HCC | UP | ENST00000297469.3 | GPER1-201:protein_coding:GPER1 | 6.082755e+01 | 8.021371e-01 | 4.265917e-08 | 2.060039e-05 |
| STG | UP | ENST00000397088.4 | GPER1-202:protein_coding:GPER1 | 4.973858e+01 | 1.207570e+00 | 4.458914e-04 | 2.578026e-02 |
| PG | UP | ENST00000354903.9 | PER1-202:protein_coding:PER1 | 3.338640e+01 | 1.047781e+00 | 1.241487e-03 | 1.706001e-02 |
| PG | UP | ENST00000585284.1 | PER1-219:retained_intron:PER1 | 2.332192e+00 | 2.079395e+00 | 2.061042e-03 | 2.442381e-02 |
| CB | DOWN | ENST00000529244.1 | CATSPER1-202:retained_intron:CATSPER1 | 2.645932e+00 | -1.106103e+00 | 1.850611e-04 | 1.246106e-03 |
| CB | DOWN | ENST00000617001.1 | GPER1-206:protein_coding:GPER1 | 3.174580e+00 | -3.025287e+00 | 7.907963e-03 | 2.868775e-02 |
| TC | UP | ENST00000397092.5 | GPER1-203:protein_coding:GPER1 | 2.152072e+01 | 1.171960e+00 | 2.522723e-04 | 3.358650e-03 |
| TC | UP | ENST00000297469.3 | GPER1-201:protein_coding:GPER1 | 3.502801e+01 | 9.556012e-01 | 3.550307e-04 | 4.393361e-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 PER1 |
| 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_101577 | chr17 | 8146726:8146765:8146897:8147002:8147250:8147381 | 8146897:8147002 |
| exon_skip_13056 | chr17 | 8146897:8147002:8147250:8147381:8147470:8147549 | 8147250:8147381 |
| exon_skip_133118 | chr17 | 8142649:8142835:8143266:8143876:8144751:8144993 | 8143266:8143876 |
| exon_skip_154677 | chr17 | 8150050:8150125:8150219:8150317:8150432:8150610 | 8150219:8150317 |
| exon_skip_161327 | chr17 | 8144503:8144993:8145958:8146137:8146372:8146502 | 8145958:8146137 |
| exon_skip_171923 | chr17 | 8150050:8150125:8150219:8150317:8150432:8150845 | 8150219:8150317 |
| exon_skip_178689 | chr17 | 8147674:8147827:8147997:8148103:8148181:8148259 | 8147997:8148103 |
| exon_skip_198155 | chr17 | 8146640:8146765:8147250:8147381:8147470:8147549 | 8147250:8147381 |
| exon_skip_272230 | chr17 | 8148181:8148259:8148644:8148786:8149259:8149310 | 8148644:8148786 |
| exon_skip_292820 | chr17 | 8146640:8146765:8146897:8147381:8147470:8147549 | 8146897:8147381 |
| exon_skip_31041 | chr17 | 8146693:8146765:8146897:8147002:8147250:8147381 | 8146897:8147002 |
| exon_skip_62888 | chr17 | 8144056:8144993:8145958:8146137:8146372:8146502 | 8145958:8146137 |
| exon_skip_68659 | chr17 | 8141233:8141340:8141805:8141955:8142269:8142458 | 8141805:8141955 |
| 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 PER1 |
| 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 |
| ENST00000317276 | 8147997 | 8148103 | Frame-shift |
| ENST00000317276 | 8148644 | 8148786 | Frame-shift |
| ENST00000317276 | 8145958 | 8146137 | In-frame |
| ENST00000317276 | 8150219 | 8150317 | 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 |
| ENST00000317276 | 8150219 | 8150317 | 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 |
| ENST00000317276 | 8141805 | 8141955 | Frame-shift |
| ENST00000317276 | 8143266 | 8143876 | Frame-shift |
| ENST00000317276 | 8146897 | 8147002 | Frame-shift |
| ENST00000317276 | 8147997 | 8148103 | Frame-shift |
| ENST00000317276 | 8148644 | 8148786 | Frame-shift |
| ENST00000317276 | 8145958 | 8146137 | In-frame |
| ENST00000317276 | 8147250 | 8147381 | In-frame |
| ENST00000317276 | 8150219 | 8150317 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PER1 |
p-ENSG00000179094_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 |
| ENST00000317276 | 4724 | 1290 | 8150219 | 8150317 | 514 | 611 | 92 | 124 |
| ENST00000317276 | 4724 | 1290 | 8145958 | 8146137 | 2277 | 2455 | 679 | 739 |
| 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 |
| ENST00000317276 | 4724 | 1290 | 8150219 | 8150317 | 514 | 611 | 92 | 124 |
| 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 |
| ENST00000317276 | 4724 | 1290 | 8150219 | 8150317 | 514 | 611 | 92 | 124 |
| ENST00000317276 | 4724 | 1290 | 8147250 | 8147381 | 1736 | 1866 | 499 | 542 |
| ENST00000317276 | 4724 | 1290 | 8145958 | 8146137 | 2277 | 2455 | 679 | 739 |
| 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 |
| O15534 | 92 | 124 | 1 | 1290 | Chain | ID=PRO_0000162627;Note=Period circadian protein homolog 1 |
| O15534 | 92 | 124 | 49 | 129 | Compositional bias | Note=Ser-rich |
| O15534 | 92 | 124 | 121 | 121 | Modified residue | Note=Phosphothreonine%3B by CSNK1E;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15534 | 92 | 124 | 122 | 122 | Modified residue | Note=Phosphoserine%3B by CSNK1E;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15534 | 92 | 124 | 121 | 126 | Mutagenesis | Note=Strongly decreases interaction with BTRC and FBXW11 and inhibits degradation promoted by CSNK1E. TSGCSS->AAGCSA |
| O15534 | 92 | 124 | 1 | 151 | Region | Note=Interaction with BTRC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15917222;Dbxref=PMID:15917222 |
| O15534 | 679 | 739 | 1 | 1290 | Chain | ID=PRO_0000162627;Note=Period circadian protein homolog 1 |
| O15534 | 679 | 739 | 704 | 704 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| O15534 | 679 | 739 | 714 | 726 | Mutagenesis | Note=No effect on interaction with BTRC and FBXW11. SVVSVTSQCSFSS->AVVAVTAQCAFAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15917222;Dbxref=PMID:15917222 |
| O15534 | 679 | 739 | 696 | 696 | Natural variant | ID=VAR_036038;Note=In a breast cancer sample%3B somatic mutation. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| O15534 | 679 | 739 | 596 | 815 | Region | Note=Required for phosphorylation by CSNK1E;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O15534 | 92 | 124 | 1 | 1290 | Chain | ID=PRO_0000162627;Note=Period circadian protein homolog 1 |
| O15534 | 92 | 124 | 49 | 129 | Compositional bias | Note=Ser-rich |
| O15534 | 92 | 124 | 121 | 121 | Modified residue | Note=Phosphothreonine%3B by CSNK1E;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15534 | 92 | 124 | 122 | 122 | Modified residue | Note=Phosphoserine%3B by CSNK1E;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15534 | 92 | 124 | 121 | 126 | Mutagenesis | Note=Strongly decreases interaction with BTRC and FBXW11 and inhibits degradation promoted by CSNK1E. TSGCSS->AAGCSA |
| O15534 | 92 | 124 | 1 | 151 | Region | Note=Interaction with BTRC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15917222;Dbxref=PMID:15917222 |
| 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 |
| O15534 | 92 | 124 | 1 | 1290 | Chain | ID=PRO_0000162627;Note=Period circadian protein homolog 1 |
| O15534 | 92 | 124 | 49 | 129 | Compositional bias | Note=Ser-rich |
| O15534 | 92 | 124 | 121 | 121 | Modified residue | Note=Phosphothreonine%3B by CSNK1E;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15534 | 92 | 124 | 122 | 122 | Modified residue | Note=Phosphoserine%3B by CSNK1E;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O15534 | 92 | 124 | 121 | 126 | Mutagenesis | Note=Strongly decreases interaction with BTRC and FBXW11 and inhibits degradation promoted by CSNK1E. TSGCSS->AAGCSA |
| O15534 | 92 | 124 | 1 | 151 | Region | Note=Interaction with BTRC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15917222;Dbxref=PMID:15917222 |
| O15534 | 499 | 542 | 1 | 1290 | Chain | ID=PRO_0000162627;Note=Period circadian protein homolog 1 |
| O15534 | 679 | 739 | 1 | 1290 | Chain | ID=PRO_0000162627;Note=Period circadian protein homolog 1 |
| O15534 | 679 | 739 | 704 | 704 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:20068231,PMID:23186163 |
| O15534 | 679 | 739 | 714 | 726 | Mutagenesis | Note=No effect on interaction with BTRC and FBXW11. SVVSVTSQCSFSS->AVVAVTAQCAFAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15917222;Dbxref=PMID:15917222 |
| O15534 | 679 | 739 | 696 | 696 | Natural variant | ID=VAR_036038;Note=In a breast cancer sample%3B somatic mutation. E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=PMID:16959974 |
| O15534 | 679 | 739 | 596 | 815 | Region | Note=Required for phosphorylation by CSNK1E;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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3'-UTR located exon skipping events that lost miRNA binding sites in PER1 |
| 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 PER1 |
| - 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 PER1 |
| 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 PER1 |
| 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 PER1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for PER1 |
| 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 PER1 |
| 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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