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Fusion gene ID: 26676 |
FusionGeneSummary for PER1_ENOPH1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PER1_ENOPH1 | Fusion gene ID: 26676 | Hgene | Tgene | Gene symbol | PER1 | ENOPH1 | Gene ID | 5187 | 58478 |
| Gene name | period circadian regulator 1 | enolase-phosphatase 1 | |
| Synonyms | PER|RIGUI|hPER | E1|MASA|MST145|mtnC | |
| Cytomap | 17p13.1 | 4q21.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | period circadian protein homolog 1Period, drosophila, homolog ofcircadian clock protein PERIOD 1circadian pacemaker protein RIGUIhPER1period circadian clock 1period homolog 1 | enolase-phosphatase E12,3-diketo-5-methylthio-1-phosphopentane phosphataseacireductone synthase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O15534 | Q9UHY7 | |
| Ensembl transtripts involved in fusion gene | ENST00000317276, ENST00000581082, ENST00000578089, ENST00000354903, | ENST00000273920, ENST00000509635, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 4 X 3 X 3=36 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PER1 [Title/Abstract] AND ENOPH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | PER1 | GO:0032922 | circadian regulation of gene expression | 18411297|24005054 |
| Hgene | PER1 | GO:0043966 | histone H3 acetylation | 14645221 |
| Hgene | PER1 | GO:0043967 | histone H4 acetylation | 14645221 |
| Tgene | ENOPH1 | GO:0019509 | L-methionine salvage from methylthioadenosine | 15843022 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | PRAD | TCGA-2A-A8W3-01A | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000317276 | ENST00000273920 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| 5CDS-5UTR | ENST00000317276 | ENST00000509635 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| Frame-shift | ENST00000581082 | ENST00000273920 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| 5CDS-5UTR | ENST00000581082 | ENST00000509635 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| intron-3CDS | ENST00000578089 | ENST00000273920 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| intron-5UTR | ENST00000578089 | ENST00000509635 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| intron-3CDS | ENST00000354903 | ENST00000273920 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
| intron-5UTR | ENST00000354903 | ENST00000509635 | PER1 | chr17 | 8045967 | - | ENOPH1 | chr4 | 83369073 | + |
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FusionProtFeatures for PER1_ENOPH1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PER1 | ENOPH1 |
| Transcriptional repressor which forms a core componentof the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes throughthe generation of approximately 24 hour circadian rhythms in geneexpression, which are translated into rhythms in metabolism andbehavior. It is derived from the Latin roots 'circa' (about) and'diem' (day) and acts as an important regulator of a wide array ofphysiological functions including metabolism, sleep, bodytemperature, blood pressure, endocrine, immune, cardiovascular,and renal function. Consists of two major components: the centralclock, residing in the suprachiasmatic nucleus (SCN) of the brain,and the peripheral clocks that are present in nearly every tissueand organ system. Both the central and peripheral clocks can bereset by environmental cues, also known as Zeitgebers (German for'timegivers'). The predominant Zeitgeber for the central clock islight, which is sensed by retina and signals directly to the SCN.The central clock entrains the peripheral clocks through neuronaland hormonal signals, body temperature and feeding-related cues,aligning all clocks with the external light/dark cycle. Circadianrhythms allow an organism to achieve temporal homeostasis with itsenvironment at the molecular level by regulating gene expressionto create a peak of protein expression once every 24 hours tocontrol when a particular physiological process is most activewith respect to the solar day. Transcription and translation ofcore clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2,PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythmgeneration, whereas delays imposed by post-translationalmodifications (PTMs) are important for determining the period(tau) of the rhythms (tau refers to the period of a rhythm and isthe length, in time, of one complete cycle). A diurnal rhythm issynchronized with the day/night cycle, while the ultradian andinfradian rhythms have a period shorter and longer than 24 hours,respectively. Disruptions in the circadian rhythms contribute tothe pathology of cardiovascular diseases, cancer, metabolicsyndromes and aging. A transcription/translation feedback loop(TTFL) forms the core of the molecular circadian clock mechanism.Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 orARNTL2/BMAL2, form the positive limb of the feedback loop, act inthe form of a heterodimer and activate the transcription of coreclock genes and clock-controlled genes (involved in key metabolicprocesses), harboring E-box elements (5'-CACGTG-3') within theirpromoters. The core clock genes: PER1/2/3 and CRY1/2 which aretranscriptional repressors form the negative limb of the feedbackloop and interact with the CLOCK|NPAS2-ARNTL/BMAL1|ARNTL2/BMAL2heterodimer inhibiting its activity and thereby negativelyregulating their own expression. This heterodimer also activatesnuclear receptors NR1D1/2 and RORA/B/G, which form a secondfeedback loop and which activate and repress ARNTL/BMAL1transcription, respectively. Regulates circadian target genesexpression at post-transcriptional levels, but may not be requiredfor the repression at transcriptional level. Controls PER2 proteindecay. Represses CRY2 preventing its repression on CLOCK/ARNTLtarget genes such as FXYD5 and SCNN1A in kidney and PPARA inliver. Besides its involvement in the maintenance of the circadianclock, has an important function in the regulation of severalprocesses. Participates in the repression of glucocorticoidreceptor NR3C1/GR-induced transcriptional activity by reducing theassociation of NR3C1/GR to glucocorticoid response elements (GREs)by ARNTL:CLOCK. Plays a role in the modulation of theneuroinflammatory state via the regulation of inflammatorymediators release, such as CCL2 and IL6. In spinal astrocytes,negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades aswell as the subsequent activation of NFkappaB. Coordinatelyregulates the expression of multiple genes that are involved inthe regulation of renal sodium reabsorption. Can act as geneexpression activator in a gene and tissue specific manner, inkidney enhances WNK1 and SLC12A3 expression in collaboration withCLOCK. Modulates hair follicle cycling. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1.{ECO:0000269|PubMed:24005054}. | Bifunctional enzyme that catalyzes the enolization of2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into theintermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate(HK-MTPenyl-1-P), which is then dephosphorylated to form theacireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene). {ECO:0000255|HAMAP-Rule:MF_03117,ECO:0000269|PubMed:15843022}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PER1_ENOPH1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PER1_ENOPH1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| PER1 | CRY1, CSNK1E, CSNK1D, PER3, CSNK1G2, BTRC, FBXW11, PAXIP1, FAM65B, CCDC57, RBPMS, CRY2, CSNK2B, DEC1, RFPL4B, QPRT, TEX264, BCAT1, PRKACB, SKAP1, GFOD1, AP2M1, ARHGAP25, TENC1, XPO1, GTSE1, FOXK2, NXF2, GPR156, TXNIP, C7orf60, PDDC1, ARNTL2, DQX1, KLHL40, SSSCA1, BBS7, KBTBD7, TRIM25 | ENOPH1 | RPS27, RAB10, MOV10, CBS, MCFD2, PGM3, PUS7, SMS, UBA6, HDHD1, IMPDH2, MANF, PRDX6, SNX2, TGM2, BAG3, KATNA1, TMEM132A, TMEM63B, MYO19, BAG6, TSC22D2, RNF41, CARD9, THEM4, VPS52 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PER1_ENOPH1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PER1_ENOPH1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PER1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | PER1 | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| Hgene | PER1 | C0038587 | Substance Withdrawal Syndrome | 1 | CTD_human |
| Hgene | PER1 | C0600427 | Cocaine Dependence | 1 | PSYGENET |
| Hgene | PER1 | C1306067 | Drug-induced paranoid state | 1 | PSYGENET |
| Hgene | PER1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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