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Fusion gene ID: 35074 |
FusionGeneSummary for SNAPIN_S100A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SNAPIN_S100A1 | Fusion gene ID: 35074 | Hgene | Tgene | Gene symbol | SNAPIN | S100A1 | Gene ID | 23557 | 6271 |
| Gene name | SNAP associated protein | S100 calcium binding protein A1 | |
| Synonyms | BLOC1S7|BLOS7|BORCS3|SNAPAP | S100|S100-alpha|S100A | |
| Cytomap | 1q21.3 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SNARE-associated protein SnapinBLOC-1 subunit 7SNAP-25-binding proteinSNARE associated protein snapinbiogenesis of lysosomal organelles complex-1, subunit 7biogenesis of lysosome-related organelles complex 1 subunit 7synaptosomal-associated protein | protein S100-A1S-100 protein alpha chainS-100 protein subunit alphaS100 alphaS100 protein, alpha polypeptide | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | O95295 | P23297 | |
| Ensembl transtripts involved in fusion gene | ENST00000368685, ENST00000478558, | ENST00000368698, ENST00000469893, ENST00000292169, ENST00000368696, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SNAPIN [Title/Abstract] AND S100A1 [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 | SNAPIN | GO:0016079 | synaptic vesicle exocytosis | 10195194 |
| Tgene | S100A1 | GO:0051000 | positive regulation of nitric-oxide synthase activity | 24244340 |
| Tgene | S100A1 | GO:1903672 | positive regulation of sprouting angiogenesis | 24244340 |
| 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 | LUAD | TCGA-64-1678-01A | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| * 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 | ENST00000368685 | ENST00000368698 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 5CDS-3UTR | ENST00000368685 | ENST00000469893 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 5CDS-3UTR | ENST00000368685 | ENST00000292169 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 5CDS-3UTR | ENST00000368685 | ENST00000368696 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 3UTR-3CDS | ENST00000478558 | ENST00000368698 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 3UTR-3UTR | ENST00000478558 | ENST00000469893 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 3UTR-3UTR | ENST00000478558 | ENST00000292169 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
| 3UTR-3UTR | ENST00000478558 | ENST00000368696 | SNAPIN | chr1 | 153632042 | + | S100A1 | chr1 | 153604174 | + |
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FusionProtFeatures for SNAPIN_S100A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SNAPIN | S100A1 |
| 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 and synaptic vesicle recycling. May modulate a stepbetween vesicle priming, fusion and calcium-dependentneurotransmitter release through its ability to potentiate theinteraction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation stateinfluences exocytotic protein interactions and may regulatesynaptic vesicle exocytosis. May also have a role in themechanisms of SNARE-mediated membrane fusion in non-neuronal cells(PubMed:17182842, PubMed:18167355). As part of the BORC complexmay play a role in lysosomes movement and localization at the cellperiphery. Associated with the cytosolic face of lysosomes, theBORC complex may recruit ARL8B and couple lysosomes to microtubuleplus-end-directed kinesin motor (PubMed:25898167).{ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:18167355,ECO:0000269|PubMed:25898167}. | Probably acts as a Ca(2+) signal transducer(PubMed:22399290). In response to an increase in intracellularCa(2+) levels, binds calcium which triggers a conformationalchange (PubMed:23351007). This conformational change allowsinteraction of S1001A with specific target proteins, such as TPR-containing proteins, and the modulation of their activity(PubMed:22399290). {ECO:0000269|PubMed:22399290,ECO:0000269|PubMed:23351007}. |
| 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 SNAPIN_S100A1 |
| 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 SNAPIN_S100A1 |
| 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 |
| SNAPIN | SNAP23, BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S1, TRPV1, RGS7, LAMC1, GPRASP1, KIF5C, SPAG5, EEF1G, HAP1, KAT5, IMMT, KAT7, DDR1, IKBKAP, SNAP25, MAPK14, SPP1, RNF13, TOR1A, COPS4, SMAD2, BNIPL, TEX35, CEP170, TMEM171, CCDC151, C17orf59, BCAS4, HERC2, SCLT1, CEP170P1, TRIM69, EXOC1, KLC1, SCOC, TCP10L, TSKS, COG6, SYBU, IKBIP, TRAK2, TRIML2, MTNR1A | S100A1 | S100P, S100A1, NIF3L1, S100B, S100A4, PYGM, GJA1, ATP2A2, PLB1, ANXA6, PGM1, RYR1, DES, MDM2, PPID, FKBP4, BAG3, S100A2, PLEKHF2 |
| - 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 SNAPIN_S100A1 |
| 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 | S100A1 | P23297 | DB00768 | Olopatadine | Protein S100-A1 | small molecule | approved |
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RelatedDiseases for SNAPIN_S100A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | S100A1 | C0751895 | Vasospasm, Intracranial | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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