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Fusion gene ID: 41641 |
FusionGeneSummary for VPS72_RORC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: VPS72_RORC | Fusion gene ID: 41641 | Hgene | Tgene | Gene symbol | VPS72 | RORC | Gene ID | 6944 | 6097 |
| Gene name | vacuolar protein sorting 72 homolog | RAR related orphan receptor C | |
| Synonyms | CFL1|Swc2|TCFL1|YL-1|YL1 | IMD42|NR1F3|RORG|RZR-GAMMA|RZRG|TOR | |
| Cytomap | 1q21.3 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vacuolar protein sorting-associated protein 72 homologtranscription factor-like 1transformation suppressor gene YL-1 | nuclear receptor ROR-gammaRAR-related orphan nuclear receptor variant 2RAR-related orphan receptor Cnuclear receptor RZR-gammanuclear receptor subfamily 1 group F member 3retinoic acid-binding receptor gammaretinoid-related orphan receptor gamma | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15906 | P51449 | |
| Ensembl transtripts involved in fusion gene | ENST00000354473, ENST00000496809, | ENST00000356728, ENST00000392697, ENST00000318247, ENST00000480719, | |
| Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 2 X 1 X 2=4 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/224*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: VPS72 [Title/Abstract] AND RORC [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 | RORC | GO:0000122 | negative regulation of transcription by RNA polymerase II | 20427770 |
| Tgene | RORC | GO:0036315 | cellular response to sterol | 19965867 |
| 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 | LUAD | TCGA-NJ-A4YF-01A | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| * 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 | ENST00000354473 | ENST00000356728 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| Frame-shift | ENST00000354473 | ENST00000392697 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| Frame-shift | ENST00000354473 | ENST00000318247 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| 5CDS-intron | ENST00000354473 | ENST00000480719 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| intron-3CDS | ENST00000496809 | ENST00000356728 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| intron-3CDS | ENST00000496809 | ENST00000392697 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| intron-3CDS | ENST00000496809 | ENST00000318247 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
| intron-intron | ENST00000496809 | ENST00000480719 | VPS72 | chr1 | 151162481 | - | RORC | chr1 | 151789756 | - |
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FusionProtFeatures for VPS72_RORC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| VPS72 | RORC |
| Deposition-and-exchange histone chaperone specific forH2AFZ, specifically chaperones H2AFZ and deposits it intonucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AFZ/H2B dimers for nucleosomalH2A/H2B, leading to transcriptional regulation of selected genesby chromatin remodeling. {ECO:0000269|PubMed:26974126}. | Nuclear receptor that binds DNA as a monomer to RORresponse elements (RORE) containing a single core motif half-site5'-AGGTCA-3' preceded by a short A-T-rich sequence. Key regulatorof cellular differentiation, immunity, peripheral circadian rhythmas well as lipid, steroid, xenobiotics and glucose metabolism(PubMed:19381306, PubMed:19965867, PubMed:22789990,PubMed:26160376, PubMed:20203100). Considered to have intrinsictranscriptional activity, have some natural ligands likeoxysterols that act as agonists (25-hydroxycholesterol) or inverseagonists (7-oxygenated sterols), enhancing or repressing thetranscriptional activity, respectively (PubMed:19965867,PubMed:22789990). Recruits distinct combinations of cofactors totarget gene regulatory regions to modulate their transcriptionalexpression, depending on the tissue, time and promoter contexts.Regulates the circadian expression of clock genes such as CRY1,ARNTL/BMAL1 and NR1D1 in peripheral tissues and in a tissue-selective manner. Competes with NR1D1 for binding to their sharedDNA response element on some clock genes such as ARNTL/BMAL1, CRY1and NR1D1 itself, resulting in NR1D1-mediated repression or RORC-mediated activation of the expression, leading to the circadianpattern of clock genes expression. Therefore influences the periodlength and stability of the clock. Involved in the regulation ofthe rhythmic expression of genes involved in glucose and lipidmetabolism, including PLIN2 and AVPR1A (PubMed:19965867). Negativeregulator of adipocyte differentiation through the regulation ofearly phase genes expression, such as MMP3. Controls adipogenesisas well as adipocyte size and modulates insulin sensitivity inobesity. In liver, has specific and redundant functions with RORAas positive or negative modulator of expression of genes encodingphase I and Phase II proteins involved in the metabolism oflipids, steroids and xenobiotics, such as SULT1E1. Also plays alsoa role in the regulation of hepatocyte glucose metabolism throughthe regulation of G6PC and PCK1 (PubMed:19965867). Regulates therhythmic expression of PROX1 and promotes its nuclear localization(PubMed:19381306, PubMed:19965867, PubMed:22789990,PubMed:26160376, PubMed:20203100). Plays an indispensable role inthe induction of IFN-gamma dependent anti-mycobacterial systemicimmunity (PubMed:26160376). {ECO:0000250|UniProtKB:P51450,ECO:0000269|PubMed:19381306, ECO:0000269|PubMed:19965867,ECO:0000269|PubMed:20203100, ECO:0000269|PubMed:22789990,ECO:0000269|PubMed:26160376}. Isoform 2: Essential for thymopoiesis and thedevelopment of several secondary lymphoid tissues, including lymphnodes and Peyer's patches. Required for the generation of LTi(lymphoid tissue inducer) cells. Regulates thymocyte survivalthrough DNA-binding on ROREs of target gene promoter regions andrecruitment of coactivaros via the AF-2. Also plays a key role,downstream of IL6 and TGFB and synergistically with RORA, forlineage specification of uncommitted CD4(+) T-helper (T(H)) cellsinto T(H)17 cells, antagonizing the T(H)1 program. Probablyregulates IL17 and IL17F expression on T(H) by binding to theessential enhancer conserved non-coding sequence 2 (CNS2) in theIL17-IL17F locus. May also play a role in the pre-TCR activationcascade leading to the maturation of alpha/beta T-cells and mayparticipate in the regulation of DNA accessibility in the TCR-J(alpha) locus. {ECO:0000269|PubMed:21499262}. |
| 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 VPS72_RORC |
| 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 VPS72_RORC |
| 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 |
| VPS72 | CALCOCO2, EWSR1, CCDC85B, MDFI, MRGBP, DMAP1, KAT5, CEBPA, ELAVL1, H2AFZ, SRCAP, RUVBL1, RUVBL2, ZFC3H1, PRMT1, HMBOX1, MAGEA10, PLAC1, FOXR1, QPRT, FOXR2, MORF4L1, CARD8, HIST1H2BA, YEATS4, ANP32A, ANP32B, ANP32E, SET, STK11, HIST1H2BG, KPNA1, TRRAP, ING3, EPC1, MBTD1, MYCL, MORF4L2, P4HA3, MEAF6, NFATC2IP, ZNHIT1, TRIM25 | RORC | NCOA6, EVI2A, CIPC, CSNK1E, DEC1, BHLHE41, NPAS2, NR1D2, PPP1CA, PPP1CC, PPP2R1B, PPP2R5D, PPP2R5E, PER2, RORB, ARNTL, PPP2R1A, ARNTL2, CLOCK, FBXL15, PPP1CB, PPP2CA, PSMC5, USP4, TRAF5, EP300, HDAC1, SRC, USP15, SCGB1D2, ANKHD1-EIF4EBP3, CTSA, TP53, GLB1 |
| - 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 VPS72_RORC |
| 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 VPS72_RORC |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RORC | C0021368 | Inflammation | 1 | CTD_human |
| Tgene | RORC | C0877792 | Sleep Disorders, Circadian Rhythm | 1 | CTD_human |
| Tgene | RORC | C4225266 | IMMUNODEFICIENCY 42 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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