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Fusion gene ID: 4219 |
FusionGeneSummary for BLOC1S4_NOL3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BLOC1S4_NOL3 | Fusion gene ID: 4219 | Hgene | Tgene | Gene symbol | BLOC1S4 | NOL3 | Gene ID | 55330 | 8996 |
| Gene name | biogenesis of lysosomal organelles complex 1 subunit 4 | nucleolar protein 3 | |
| Synonyms | BCAS4L|BLOS4|CNO | ARC|FCM|MYP|NOP|NOP30 | |
| Cytomap | 4p16.1 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | biogenesis of lysosome-related organelles complex 1 subunit 4BLOC-1 subunit 4biogenesis of lysosomal organelles complex-1, subunit 4, cappuccinocappuccino homologprotein cappuccino homolog | nucleolar protein 3muscle-enriched cytoplasmic proteinnucleolar protein 3 (apoptosis repressor with CARD domain)nucleolar protein of 30 kDa | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9NUP1 | O60936 | |
| Ensembl transtripts involved in fusion gene | ENST00000320776, | ENST00000432069, ENST00000564053, ENST00000568199, ENST00000268605, ENST00000568146, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 4 X 1=12 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BLOC1S4 [Title/Abstract] AND NOL3 [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 | NOL3 | GO:0006376 | mRNA splice site selection | 10196175 |
| Tgene | NOL3 | GO:0014808 | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 15509781 |
| Tgene | NOL3 | GO:0051259 | protein complex oligomerization | 10196175 |
| Tgene | NOL3 | GO:0090201 | negative regulation of release of cytochrome c from mitochondria | 15004034 |
| Tgene | NOL3 | GO:1902176 | negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway | 15004034 |
| Tgene | NOL3 | GO:1990001 | inhibition of cysteine-type endopeptidase activity involved in apoptotic process | 15509781 |
| Tgene | NOL3 | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway | 9560245 |
| 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 | AA855094 | BLOC1S4 | chr4 | 6718851 | - | NOL3 | chr16 | 67206350 | - |
| * 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 |
| 3UTR-intron | ENST00000320776 | ENST00000432069 | BLOC1S4 | chr4 | 6718851 | - | NOL3 | chr16 | 67206350 | - |
| 3UTR-intron | ENST00000320776 | ENST00000564053 | BLOC1S4 | chr4 | 6718851 | - | NOL3 | chr16 | 67206350 | - |
| 3UTR-intron | ENST00000320776 | ENST00000568199 | BLOC1S4 | chr4 | 6718851 | - | NOL3 | chr16 | 67206350 | - |
| 3UTR-intron | ENST00000320776 | ENST00000268605 | BLOC1S4 | chr4 | 6718851 | - | NOL3 | chr16 | 67206350 | - |
| 3UTR-intron | ENST00000320776 | ENST00000568146 | BLOC1S4 | chr4 | 6718851 | - | NOL3 | chr16 | 67206350 | - |
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FusionProtFeatures for BLOC1S4_NOL3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BLOC1S4 | NOL3 |
| Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicletrafficking. {ECO:0000269|PubMed:17182842}. | Isoform 1: May be involved in RNA splicing.{ECO:0000269|PubMed:10196175}. Isoform 2: Functions as an apoptosis repressor thatblocks multiple modes of cell death. Inhibits extrinsic apoptoticpathways through two different ways. Firstly by interacting withFAS and FADD upon FAS activation blocking death-inducing signalingcomplex (DISC) assembly (By similarity). Secondly by interactingwith CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 availablefor DISC-mediated activation (By similarity). Inhibits intrinsicapoptotic pathway in response to a wide range of stresses, throughits interaction with BAX resulting in BAX inactivation, preventingmitochondrial dysfunction and release of pro-apoptotic factors(PubMed:15004034). Inhibits calcium-mediated cell death byfunctioning as a cytosolic calcium buffer, dissociating itsinteraction with CASP8 and maintaining calcium homeostasis(PubMed:15509781). Negatively regulates oxidative stress-inducedapoptosis by phosphorylation-dependent suppression of themitochondria-mediated intrinsic pathway, by blocking CASP2activation and BAX translocation (By similarity). Negativelyregulates hypoxia-induced apoptosis in part by inhibiting therelease of cytochrome c from mitochondria in a caspase-independentmanner (By similarity). Also inhibits TNF-induced necrosis bypreventing TNF-signaling pathway through TNFRSF1A interactionabrogating the recruitment of RIPK1 to complex I (By similarity).Finally through its role as apoptosis repressor, promotes vascularremodeling through inhibition of apoptosis and stimulation ofproliferation, in response to hypoxia (By similarity). Inhibitstoo myoblast differentiation through caspase inhibition (Bysimilarity). {ECO:0000250|UniProtKB:Q62881,ECO:0000250|UniProtKB:Q9D1X0, ECO:0000269|PubMed:15004034,ECO:0000269|PubMed:15509781}. |
| 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 BLOC1S4_NOL3 |
| 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 BLOC1S4_NOL3 |
| 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 BLOC1S4_NOL3 |
| 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 BLOC1S4_NOL3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | NOL3 | C3539916 | MYOCLONUS, FAMILIAL CORTICAL | 2 | ORPHANET;UNIPROT |
| Tgene | NOL3 | C0751651 | Mitochondrial Diseases | 1 | CTD_human |
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