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Fusion gene ID: 15999 |
FusionGeneSummary for HDLBP_SNX33 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HDLBP_SNX33 | Fusion gene ID: 15999 | Hgene | Tgene | Gene symbol | HDLBP | SNX33 | Gene ID | 3069 | 257364 |
| Gene name | high density lipoprotein binding protein | sorting nexin 33 | |
| Synonyms | HBP|PRO2900|VGL | SH3PX3|SH3PXD3C|SNX30 | |
| Cytomap | 2q37.3 | 15q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | vigilinHDL-binding protein | sorting nexin-33SH3 and PX domain containing 3SH3 and PX domain-containing protein 3 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q00341 | Q8WV41 | |
| Ensembl transtripts involved in fusion gene | ENST00000391976, ENST00000310931, ENST00000391975, ENST00000427183, ENST00000476807, | ENST00000308527, | |
| Fusion gene scores | * DoF score | 21 X 18 X 6=2268 | 2 X 2 X 2=8 |
| # samples | 23 | 2 | |
| ** MAII score | log2(23/2268*10)=-3.30171487399785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: HDLBP [Title/Abstract] AND SNX33 [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 | SNX33 | GO:0017038 | protein import | 18353773|18419754 |
| Tgene | SNX33 | GO:0045806 | negative regulation of endocytosis | 18353773|18419754 |
| Tgene | SNX33 | GO:0051044 | positive regulation of membrane protein ectodomain proteolysis | 18353773|18419754 |
| Tgene | SNX33 | GO:0097320 | plasma membrane tubulation | 20964629 |
| Tgene | SNX33 | GO:2000009 | negative regulation of protein localization to cell surface | 18419754 |
| Tgene | SNX33 | GO:2000010 | positive regulation of protein localization to cell surface | 18353773 |
| 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 |
| ChiTaRS3.1 | AW197079 | HDLBP | chr2 | 242168749 | + | SNX33 | chr15 | 75949499 | - |
| * 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 |
| intron-3CDS | ENST00000391976 | ENST00000308527 | HDLBP | chr2 | 242168749 | + | SNX33 | chr15 | 75949499 | - |
| intron-3CDS | ENST00000310931 | ENST00000308527 | HDLBP | chr2 | 242168749 | + | SNX33 | chr15 | 75949499 | - |
| intron-3CDS | ENST00000391975 | ENST00000308527 | HDLBP | chr2 | 242168749 | + | SNX33 | chr15 | 75949499 | - |
| intron-3CDS | ENST00000427183 | ENST00000308527 | HDLBP | chr2 | 242168749 | + | SNX33 | chr15 | 75949499 | - |
| intron-3CDS | ENST00000476807 | ENST00000308527 | HDLBP | chr2 | 242168749 | + | SNX33 | chr15 | 75949499 | - |
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FusionProtFeatures for HDLBP_SNX33 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HDLBP | SNX33 |
| Appears to play a role in cell sterol metabolism. It mayfunction to protect cells from over-accumulation of cholesterol. | Plays a role in the reorganization of the cytoskeleton,endocytosis and cellular vesicle trafficking via its interactionswith membranes, WASL, DNM1 and DNM2. Acts both during interphaseand at the end of mitotic cell divisions. Required for efficientprogress through mitosis and cytokinesis. Required for normalformation of the cleavage furrow at the end of mitosis. Modulatesendocytosis of cell-surface proteins, such as APP and PRNP; thisthen modulates the secretion of APP and PRNP peptides. Promotesmembrane tubulation (in vitro). May promote the formation ofmacropinosomes. {ECO:0000269|PubMed:18353773,ECO:0000269|PubMed:18419754, ECO:0000269|PubMed:19487689,ECO:0000269|PubMed:20964629, ECO:0000269|PubMed:21048941,ECO:0000269|PubMed:22718350}. |
| 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 HDLBP_SNX33 |
| 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 HDLBP_SNX33 |
| 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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RelatedDrugs for HDLBP_SNX33 |
| 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 HDLBP_SNX33 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HDLBP | C0004352 | Autistic Disorder | 1 | CTD_human |
| Hgene | HDLBP | C2931817 | Chromosome 2q37 deletion syndrome | 1 | CTD_human |
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