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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:PER1-AURKB (FusionGDB2 ID:63888) |
Fusion Gene Summary for PER1-AURKB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PER1-AURKB | Fusion gene ID: 63888 | Hgene | Tgene | Gene symbol | PER1 | AURKB | Gene ID | 5187 | 9212 |
| Gene name | period circadian regulator 1 | aurora kinase B | |
| Synonyms | PER|RIGUI|hPER | AIK2|AIM-1|AIM1|ARK-2|ARK2|AurB|IPL1|PPP1R48|STK-1|STK12|STK5|aurkb-sv1|aurkb-sv2 | |
| Cytomap | 17p13.1 | 17p13.1 | |
| 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 | aurora kinase Baurora kinase B-Sv1aurora kinase B-Sv2aurora- and Ipl1-like midbody-associated protein 1aurora-1aurora-Baurora-related kinase 2aurora/IPL1-related kinase 2protein phosphatase 1, regulatory subunit 48serine/threonine kinase 12serin | |
| Modification date | 20200313 | 20200329 | |
| UniProtAcc | . | Q96GD4 | |
| Ensembl transtripts involved in fusion gene | ENST00000317276, ENST00000581082, ENST00000578089, ENST00000354903, | ENST00000316199, ENST00000534871, ENST00000585124, ENST00000535053, ENST00000578549, | |
| Fusion gene scores | * DoF score | 7 X 7 X 5=245 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PER1 [Title/Abstract] AND AURKB [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | PER1(8055654)-AURKB(8108708), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 | AURKB | GO:0000122 | negative regulation of transcription by RNA polymerase II | 20959462 |
| Tgene | AURKB | GO:0002903 | negative regulation of B cell apoptotic process | 20959462 |
| Tgene | AURKB | GO:0006468 | protein phosphorylation | 21820309|22724069 |
| Tgene | AURKB | GO:0032091 | negative regulation of protein binding | 21820309 |
| Tgene | AURKB | GO:0034644 | cellular response to UV | 20959462 |
| Tgene | AURKB | GO:0036089 | cleavage furrow formation | 16103226 |
| Tgene | AURKB | GO:1905116 | positive regulation of lateral attachment of mitotic spindle microtubules to kinetochore | 28751710 |
| Fusion gene breakpoints across PER1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across AURKB (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BLCA | TCGA-4Z-AA7Q | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
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Fusion Gene ORF analysis for PER1-AURKB |
| 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 |
| 5UTR-3CDS | ENST00000317276 | ENST00000316199 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| 5UTR-3CDS | ENST00000317276 | ENST00000534871 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| 5UTR-3CDS | ENST00000317276 | ENST00000585124 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| 5UTR-3UTR | ENST00000317276 | ENST00000535053 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| 5UTR-3UTR | ENST00000317276 | ENST00000578549 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000581082 | ENST00000316199 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000581082 | ENST00000534871 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000581082 | ENST00000585124 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3UTR | ENST00000581082 | ENST00000535053 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3UTR | ENST00000581082 | ENST00000578549 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000578089 | ENST00000316199 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000578089 | ENST00000534871 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000578089 | ENST00000585124 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3UTR | ENST00000578089 | ENST00000535053 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3UTR | ENST00000578089 | ENST00000578549 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000354903 | ENST00000316199 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000354903 | ENST00000534871 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3CDS | ENST00000354903 | ENST00000585124 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3UTR | ENST00000354903 | ENST00000535053 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| intron-3UTR | ENST00000354903 | ENST00000578549 | PER1 | chr17 | 8055654 | - | AURKB | chr17 | 8108708 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for PER1-AURKB |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for PER1-AURKB |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | AURKB |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Serine/threonine-protein kinase component of the chromosomal passenger complex (CPC), a complex that acts as a key regulator of mitosis. The CPC complex has essential functions at the centromere in ensuring correct chromosome alignment and segregation and is required for chromatin-induced microtubule stabilization and spindle assembly. Involved in the bipolar attachment of spindle microtubules to kinetochores and is a key regulator for the onset of cytokinesis during mitosis. Required for central/midzone spindle assembly and cleavage furrow formation. Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: phosphorylates CHMP4C, leading to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis (PubMed:22422861, PubMed:24814515). AURKB phosphorylates the CPC complex subunits BIRC5/survivin, CDCA8/borealin and INCENP. Phosphorylation of INCENP leads to increased AURKB activity. Other known AURKB substrates involved in centromeric functions and mitosis are CENPA, DES/desmin, GPAF, KIF2C, NSUN2, RACGAP1, SEPTIN1, VIM/vimentin, HASPIN, and histone H3. A positive feedback loop involving HASPIN and AURKB contributes to localization of CPC to centromeres. Phosphorylation of VIM controls vimentin filament segregation in cytokinetic process, whereas histone H3 is phosphorylated at 'Ser-10' and 'Ser-28' during mitosis (H3S10ph and H3S28ph, respectively). A positive feedback between HASPIN and AURKB contributes to CPC localization. AURKB is also required for kinetochore localization of BUB1 and SGO1. Phosphorylation of p53/TP53 negatively regulates its transcriptional activity. Key regulator of active promoters in resting B- and T-lymphocytes: acts by mediating phosphorylation of H3S28ph at active promoters in resting B-cells, inhibiting RNF2/RING1B-mediated ubiquitination of histone H2A and enhancing binding and activity of the USP16 deubiquitinase at transcribed genes. {ECO:0000269|PubMed:11516652, ECO:0000269|PubMed:11756469, ECO:0000269|PubMed:11784863, ECO:0000269|PubMed:11856369, ECO:0000269|PubMed:12458200, ECO:0000269|PubMed:12686604, ECO:0000269|PubMed:12689593, ECO:0000269|PubMed:12925766, ECO:0000269|PubMed:14602875, ECO:0000269|PubMed:14610074, ECO:0000269|PubMed:14722118, ECO:0000269|PubMed:15020684, ECO:0000269|PubMed:15249581, ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:17617734, ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:21658950, ECO:0000269|PubMed:22422861, ECO:0000269|PubMed:24814515}. |
| 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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Fusion Gene Sequence for PER1-AURKB |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for PER1-AURKB |
| 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 |
| - 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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Related Drugs for PER1-AURKB |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB04703 | Hesperidin | Small molecule | Approved|Investigational | |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
| Tgene | AURKB | Q96GD4 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for PER1-AURKB |
| 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 | C0086189 | Drug Withdrawal Symptoms | 1 | CTD_human |
| Hgene | PER1 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
| Hgene | PER1 | C0087169 | Withdrawal Symptoms | 1 | CTD_human |
| Hgene | PER1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Hgene | PER1 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
| Hgene | PER1 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
| Hgene | PER1 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |
| Tgene | AURKB | C0017661 | IGA Glomerulonephritis | 1 | CTD_human |
| Tgene | AURKB | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Tgene | AURKB | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | AURKB | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
| Tgene | AURKB | C2239176 | Liver carcinoma | 1 | CTD_human |
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