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Fusion gene ID: 7628 |
FusionGeneSummary for CMTM8_NR1D2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CMTM8_NR1D2 | Fusion gene ID: 7628 | Hgene | Tgene | Gene symbol | CMTM8 | NR1D2 | Gene ID | 152189 | 9975 |
| Gene name | CKLF like MARVEL transmembrane domain containing 8 | nuclear receptor subfamily 1 group D member 2 | |
| Synonyms | CKLFSF8|CKLFSF8-V2 | BD73|EAR-1R|REVERBB|REVERBbeta|RVR | |
| Cytomap | 3p22.3 | 3p24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CKLF-like MARVEL transmembrane domain-containing protein 8chemokine-like factor superfamily member 8 | nuclear receptor subfamily 1 group D member 2V-erbA-related protein 1-relatednuclear receptor Rev-ErbA beta variant 1nuclear receptor Rev-ErbA beta variant 2orphan nuclear hormone receptor BD73rev-erb alpha-related receptorrev-erb-betarev-erba-alph | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8IZV2 | Q14995 | |
| Ensembl transtripts involved in fusion gene | ENST00000458535, ENST00000307526, | ENST00000312521, ENST00000492552, | |
| Fusion gene scores | * DoF score | 6 X 1 X 4=24 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/24*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: CMTM8 [Title/Abstract] AND NR1D2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 |
| Tgene | NR1D2 | GO:0045892 | negative regulation of transcription, DNA-templated | 17892483|17996965 |
| 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 | BRCA | TCGA-A2-A0ST-01A | CMTM8 | chr3 | 32280611 | + | NR1D2 | chr3 | 23996028 | + |
| * 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 | ENST00000458535 | ENST00000312521 | CMTM8 | chr3 | 32280611 | + | NR1D2 | chr3 | 23996028 | + |
| 5CDS-3UTR | ENST00000458535 | ENST00000492552 | CMTM8 | chr3 | 32280611 | + | NR1D2 | chr3 | 23996028 | + |
| Frame-shift | ENST00000307526 | ENST00000312521 | CMTM8 | chr3 | 32280611 | + | NR1D2 | chr3 | 23996028 | + |
| 5CDS-3UTR | ENST00000307526 | ENST00000492552 | CMTM8 | chr3 | 32280611 | + | NR1D2 | chr3 | 23996028 | + |
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FusionProtFeatures for CMTM8_NR1D2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CMTM8 | NR1D2 |
| Transcriptional repressor which coordinates circadianrhythm and metabolic pathways in a heme-dependent manner. Integralcomponent of the complex transcription machinery that governscircadian rhythmicity and forms a critical negative limb of thecircadian clock by directly repressing the expression of coreclock components ARNTL/BMAL1 and CLOCK. Also regulates genesinvolved in metabolic functions, including lipid metabolism andthe inflammatory response. Acts as a receptor for heme whichstimulates its interaction with the NCOR1/HDAC3 corepressorcomplex, enhancing transcriptional repression. Recognizes twoclasses of DNA response elements within the promoter of its targetgenes and can bind to DNA as either monomers or homodimers,depending on the nature of the response element. Binds as amonomer to a response element composed of the consensus half-sitemotif 5'-[A/G]GGTCA-3' preceded by an A/T-rich 5' sequence(RevRE), or as a homodimer to a direct repeat of the core motifspaced by two nuclegotides (RevDR-2). Acts as a potent competitiverepressor of ROR alpha (RORA) function and also negativelyregulates the expression of NR1D1. Regulates lipid and energyhomeostasis in the skeletal muscle via repression of genesinvolved in lipid metabolism and myogenesis including: CD36,FABP3, FABP4, UCP3, SCD1 and MSTN. Regulates hepatic lipidmetabolism via the repression of APOC3. Represses gene expressionat a distance in macrophages by inhibiting the transcription ofenhancer-derived RNAs (eRNAs). In addition to its activity as arepressor, can also act as a transcriptional activator. Acts as atranscriptional activator of the sterol regulatory element-bindingprotein 1 (SREBF1) and the inflammatory mediator interleukin-6(IL6) in the skeletal muscle. {ECO:0000269|PubMed:17892483,ECO:0000269|PubMed:17996965}. |
| 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 CMTM8_NR1D2 |
| 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 CMTM8_NR1D2 |
| 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 |
| CMTM8 | TRIM25 | NR1D2 | NCOR1, TAF9, GTF2B, TAF6, SIN3B, HDAC1, KAT5, PRMT6, TRIM27, RBPMS, MID2, KRTAP4-2, KRT40, KRTAP10-9, NOTCH2NL, CSNK2A2, RORC, CLOCK, CSNK1E, DEC1, CRY1, USP48, NR1D1, SATB2, ZNF703, TRIM25 |
| - 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 CMTM8_NR1D2 |
| 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 CMTM8_NR1D2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NR1D2 | C0014175 | Endometriosis | 1 | CTD_human |
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