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Fusion gene ID: 9165 |
FusionGeneSummary for CYP39A1_VPS33A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYP39A1_VPS33A | Fusion gene ID: 9165 | Hgene | Tgene | Gene symbol | CYP39A1 | VPS33A | Gene ID | 51302 | 65082 |
| Gene name | cytochrome P450 family 39 subfamily A member 1 | VPS33A, CORVET/HOPS core subunit | |
| Synonyms | - | MPSPS | |
| Cytomap | 6p12.3 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 24-hydroxycholesterol 7-alpha-hydroxylasecytochrome P450, family 39, subfamily A, polypeptide 1cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1 | vacuolar protein sorting-associated protein 33Avacuolar protein sorting 33 homolog Avacuolar protein sorting 33A | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9NYL5 | Q96AX1 | |
| Ensembl transtripts involved in fusion gene | ENST00000275016, ENST00000489657, | ENST00000267199, ENST00000542310, ENST00000451053, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CYP39A1 [Title/Abstract] AND VPS33A [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 |
| Hgene | CYP39A1 | GO:0006699 | bile acid biosynthetic process | 10748047 |
| Tgene | VPS33A | GO:0016192 | vesicle-mediated transport | 15790593 |
| Tgene | VPS33A | GO:0032400 | melanosome localization | 15790593 |
| Tgene | VPS33A | GO:0032418 | lysosome localization | 15790593 |
| 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 | SARC | TCGA-DX-A7EI-01A | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
| * 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 | ENST00000275016 | ENST00000267199 | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
| 5CDS-5UTR | ENST00000275016 | ENST00000542310 | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
| 5CDS-5UTR | ENST00000275016 | ENST00000451053 | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
| intron-3CDS | ENST00000489657 | ENST00000267199 | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
| intron-5UTR | ENST00000489657 | ENST00000542310 | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
| intron-5UTR | ENST00000489657 | ENST00000451053 | CYP39A1 | chr6 | 46598700 | - | VPS33A | chr12 | 122745994 | - |
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FusionProtFeatures for CYP39A1_VPS33A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CYP39A1 | VPS33A |
| Involved in the bile acid metabolism. Has a preferencefor 24-hydroxycholesterol, and converts it into a 7-alpha-hydroxylated product. {ECO:0000269|PubMed:10748047}. | Plays a role in vesicle-mediated protein trafficking tolysosomal compartments including the endocytic membrane transportand autophagic pathways. Believed to act as a core component ofthe putative HOPS and CORVET endosomal tethering complexes whichare proposed to be involved in the Rab5-to-Rab7 endosomeconversion probably implicating MON1A/B, and via binding SNAREsand SNARE complexes to mediate tethering and docking events duringSNARE-mediated membrane fusion. The HOPS complex is proposed to berecruited to Rab7 on the late endosomal membrane and to regulatelate endocytic, phagocytic and autophagic traffic towardslysosomes. The CORVET complex is proposed to function as a Rab5effector to mediate early endosome fusion probably in specificendosome subpopulations (PubMed:23351085, PubMed:24554770,PubMed:25266290, PubMed:25783203). Required for fusion ofendosomes and autophagosomes with lysosomes; the function isdependent on its association with VPS16 but not VIPAS39(PubMed:25783203). The function in autophagosome-lysosome fusionimplicates STX17 but not UVRAG (PubMed:24554770).{ECO:0000269|PubMed:24554770, ECO:0000269|PubMed:25783203,ECO:0000305|PubMed:23351085, ECO:0000305|PubMed:25266290,ECO:0000305|PubMed:25783203}. |
| 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 CYP39A1_VPS33A |
| 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 CYP39A1_VPS33A |
| 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 |
| CYP39A1 | SERINC1, ORM2, GLUL, SMYD3, HERC3 | VPS33A | VPS11, VPS18, UVRAG, VIPAS39, VPS16, VPS41, UBR7, VIM, SREK1, MON1B, MON1A, SOX2, CT55, TEKT4, PKNOX1, CRYAB, FBXW11, VPS45, NTRK1, CNTRL, CDC5L, AP3D1, CLTB, TGFBRAP1, STX17, MTMR7 |
| - 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 CYP39A1_VPS33A |
| 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 CYP39A1_VPS33A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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