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Fusion gene ID: 15007 |
FusionGeneSummary for GNS_CYP27B1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GNS_CYP27B1 | Fusion gene ID: 15007 | Hgene | Tgene | Gene symbol | GNS | CYP27B1 | Gene ID | 2799 | 1594 |
| Gene name | glucosamine (N-acetyl)-6-sulfatase | cytochrome P450 family 27 subfamily B member 1 | |
| Synonyms | G6S | CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR | |
| Cytomap | 12q14.3 | 12q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | N-acetylglucosamine-6-sulfataseglucosamine -6-sulfatase | 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial1alpha(OH)ase25 hydroxyvitamin D3-1-alpha hydroxylase25-OHD-1 alpha-hydroxylaseVD3 1A hydroxylasecalcidiol 1-monooxygenasecytochrome P450 subfamily XXVIIB polypeptide 1cytochrome P450, family 27 | |
| Modification date | 20180519 | 20180506 | |
| UniProtAcc | P15586 | O15528 | |
| Ensembl transtripts involved in fusion gene | ENST00000418919, ENST00000258145, ENST00000543646, ENST00000542058, | ENST00000228606, ENST00000546496, | |
| Fusion gene scores | * DoF score | 9 X 7 X 5=315 | 5 X 4 X 4=80 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/315*10)=-1.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GNS [Title/Abstract] AND CYP27B1 [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 | CYP27B1 | GO:0008285 | negative regulation of cell proliferation | 16549446 |
| Tgene | CYP27B1 | GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity | 16549446 |
| Tgene | CYP27B1 | GO:0010980 | positive regulation of vitamin D 24-hydroxylase activity | 16549446 |
| Tgene | CYP27B1 | GO:0032496 | response to lipopolysaccharide | 12855575 |
| Tgene | CYP27B1 | GO:0033280 | response to vitamin D | 16549446 |
| Tgene | CYP27B1 | GO:0034341 | response to interferon-gamma | 9282826 |
| Tgene | CYP27B1 | GO:0036378 | calcitriol biosynthetic process from calciol | 9415400|15795327|16549446|17023519 |
| Tgene | CYP27B1 | GO:0042359 | vitamin D metabolic process | 9415400 |
| Tgene | CYP27B1 | GO:0070564 | positive regulation of vitamin D receptor signaling pathway | 16549446 |
| 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 | LD | LUAD | TCGA-75-5122-01A | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| * 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 | ENST00000418919 | ENST00000228606 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| 5CDS-intron | ENST00000418919 | ENST00000546496 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| Frame-shift | ENST00000258145 | ENST00000228606 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| 5CDS-intron | ENST00000258145 | ENST00000546496 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| Frame-shift | ENST00000543646 | ENST00000228606 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| 5CDS-intron | ENST00000543646 | ENST00000546496 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| Frame-shift | ENST00000542058 | ENST00000228606 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
| 5CDS-intron | ENST00000542058 | ENST00000546496 | GNS | chr12 | 65113802 | - | CYP27B1 | chr12 | 58157038 | - |
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FusionProtFeatures for GNS_CYP27B1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GNS | CYP27B1 |
| Catalyzes the conversion of 25-hydroxyvitamin D3(25(OH)D3) to 1-alpha,25-dihydroxyvitamin D3 (1alpha,25(OH)(2)D3),and of 24,25-dihydroxyvitamin D3 (24,25(OH)(2)D3) to 1-alpha,24,25-trihydroxyvitamin D3 (1alpha,24,25(OH)(3)D3). Is alsoactive with 25-hydroxy-24-oxo-vitamin D3. Plays an important rolein normal bone growth, calcium metabolism, and tissuedifferentiation. {ECO:0000269|PubMed:10518789}. |
| 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 GNS_CYP27B1 |
| 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 GNS_CYP27B1 |
| 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 |
| GNS | FBXO6, BCCIP, CAPN1, CASP7, CNDP2, EIF5A, G6PD, GBP2, GDA, GLA, GLS, PEPD, KYNU, LDHAL6B, MVD, RPS6KA1, SCLY, C11orf58, UBFD1, ABCE1, KIF2A, FGFR1OP, PARD6B, ENGASE, SUMF1, FKBP14, SULF2, CLPX, CUL1, CAPN2 | CYP27B1 |
| - 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 GNS_CYP27B1 |
| 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 |
| Tgene | CYP27B1 | O15528 | DB01436 | Alfacalcidol | 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for GNS_CYP27B1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GNS | C0026706 | Mucopolysaccharidosis III | 1 | CTD_human |
| Hgene | GNS | C0086650 | MPS III D | 1 | ORPHANET;UNIPROT |
| Tgene | CYP27B1 | C0268689 | Vitamin D-dependent rickets, type 1 | 5 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CYP27B1 | C0020437 | Hypercalcemia | 1 | CTD_human |
| Tgene | CYP27B1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | CYP27B1 | C0035579 | Rickets | 1 | CTD_human;HPO |
| Tgene | CYP27B1 | C0085655 | Polymyositis | 1 | CTD_human |
| Tgene | CYP27B1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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