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Fusion gene ID: 27229 |
FusionGeneSummary for PIKFYVE_SMR3B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PIKFYVE_SMR3B | Fusion gene ID: 27229 | Hgene | Tgene | Gene symbol | PIKFYVE | SMR3B | Gene ID | 200576 | 10879 |
| Gene name | phosphoinositide kinase, FYVE-type zinc finger containing | submaxillary gland androgen regulated protein 3B | |
| Synonyms | CFD|FAB1|HEL37|PIP5K|PIP5K3|ZFYVE29 | P-B|PBII|PRL3|PROL3|SMR1B | |
| Cytomap | 2q34 | 4q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 1-phosphatidylinositol 3-phosphate 5-kinasePIPkin-IIIepididymis luminal protein 37phosphatidylinositol 3-phosphate 5-kinase type IIIphosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type IIIphosphoinositide kinase, FYVE finger containin | submaxillary gland androgen-regulated protein 3Bproline rich 3proline-rich peptide P-Bproline-rich protein 3salivary proline-rich proteinsubmaxillary gland androgen regulated protein 3 homolog B | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9Y2I7 | P02814 | |
| Ensembl transtripts involved in fusion gene | ENST00000264380, ENST00000392202, ENST00000308862, ENST00000407449, ENST00000474721, | ENST00000504825, ENST00000304915, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 9 X 8 X 2=144 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/144*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PIKFYVE [Title/Abstract] AND SMR3B [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 |
| 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 | BX640810 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| * 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-3UTR | ENST00000264380 | ENST00000504825 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000264380 | ENST00000304915 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000392202 | ENST00000504825 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000392202 | ENST00000304915 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000308862 | ENST00000504825 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000308862 | ENST00000304915 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000407449 | ENST00000504825 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000407449 | ENST00000304915 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000474721 | ENST00000504825 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
| intron-3UTR | ENST00000474721 | ENST00000304915 | PIKFYVE | chr2 | 209186753 | + | SMR3B | chr4 | 71255597 | + |
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FusionProtFeatures for PIKFYVE_SMR3B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PIKFYVE | SMR3B |
| The PI(3,5)P2 regulatory complex regulates both thesynthesis and turnover of phosphatidylinositol 3,5-bisphosphate(PtdIns(3,5)P2). Catalyzes the phosphorylation ofphosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 3,5-bisphosphate.Required for endocytic-vacuolar pathway and nuclear migration.Plays a role in the biogenesis of endosome carrier vesicles (ECV)/multivesicular bodies (MVB) transport intermediates from earlyendosomes. {ECO:0000269|PubMed:17556371}. |
| 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 PIKFYVE_SMR3B |
| 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 PIKFYVE_SMR3B |
| 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 PIKFYVE_SMR3B |
| 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 PIKFYVE_SMR3B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PIKFYVE | C1562113 | Fleck corneal dystrophy | 1 | CTD_human;ORPHANET;UNIPROT |
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