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Fusion gene ID: 32472 |
FusionGeneSummary for S100A13_GBA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: S100A13_GBA | Fusion gene ID: 32472 | Hgene | Tgene | Gene symbol | S100A13 | GBA | Gene ID | 6284 | 2629 |
| Gene name | S100 calcium binding protein A13 | glucosylceramidase beta | |
| Synonyms | - | GBA1|GCB|GLUC | |
| Cytomap | 1q21.3 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein S100-A13 | glucosylceramidaseD-glucosyl-N-acylsphingosine glucohydrolaseacid beta-glucosidasealglucerasebeta-GCbeta-glucocerebrosidaseglucosidase, beta, acidglucosylceramidase-like proteinimigluceraselysosomal glucocerebrosidase | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q99584 | P04062 | |
| Ensembl transtripts involved in fusion gene | ENST00000339556, ENST00000392622, ENST00000392623, ENST00000440685, ENST00000368699, ENST00000491177, | ENST00000368373, ENST00000327247, ENST00000427500, ENST00000536770, ENST00000428024, ENST00000493842, | |
| Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 4 X 3 X 4=48 |
| # samples | 5 | 4 | |
| ** MAII score | log2(5/50*10)=0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: S100A13 [Title/Abstract] AND GBA [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 | S100A13 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 15033494 |
| Hgene | S100A13 | GO:0050703 | interleukin-1 alpha secretion | 12746488 |
| Tgene | GBA | GO:0032463 | negative regulation of protein homooligomerization | 26392287 |
| Tgene | GBA | GO:0032715 | negative regulation of interleukin-6 production | 19279008 |
| Tgene | GBA | GO:0043243 | positive regulation of protein complex disassembly | 26392287 |
| 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 | LIHC | TCGA-KR-A7K8-01A | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| * 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 |
| 5CDS-5UTR | ENST00000339556 | ENST00000368373 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000339556 | ENST00000327247 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000339556 | ENST00000427500 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000339556 | ENST00000536770 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-intron | ENST00000339556 | ENST00000428024 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000339556 | ENST00000493842 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392622 | ENST00000368373 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392622 | ENST00000327247 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392622 | ENST00000427500 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392622 | ENST00000536770 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-intron | ENST00000392622 | ENST00000428024 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392622 | ENST00000493842 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392623 | ENST00000368373 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392623 | ENST00000327247 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392623 | ENST00000427500 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392623 | ENST00000536770 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-intron | ENST00000392623 | ENST00000428024 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000392623 | ENST00000493842 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000440685 | ENST00000368373 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000440685 | ENST00000327247 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000440685 | ENST00000427500 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000440685 | ENST00000536770 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-intron | ENST00000440685 | ENST00000428024 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000440685 | ENST00000493842 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000368699 | ENST00000368373 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000368699 | ENST00000327247 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000368699 | ENST00000427500 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000368699 | ENST00000536770 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-intron | ENST00000368699 | ENST00000428024 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5CDS-5UTR | ENST00000368699 | ENST00000493842 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5UTR-5UTR | ENST00000491177 | ENST00000368373 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5UTR-5UTR | ENST00000491177 | ENST00000327247 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5UTR-5UTR | ENST00000491177 | ENST00000427500 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5UTR-5UTR | ENST00000491177 | ENST00000536770 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5UTR-intron | ENST00000491177 | ENST00000428024 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
| 5UTR-5UTR | ENST00000491177 | ENST00000493842 | S100A13 | chr1 | 153598796 | - | GBA | chr1 | 155210971 | - |
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FusionProtFeatures for S100A13_GBA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| S100A13 | GBA |
| Plays a role in the export of proteins that lack asignal peptide and are secreted by an alternative pathway. Bindstwo calcium ions per subunit. Binds one copper ion. Binding of onecopper ion does not interfere with calcium binding. Required forthe copper-dependent stress-induced export of IL1A and FGF1. Thecalcium-free protein binds to lipid vesicles containingphosphatidylserine, but not to vesicles containingphosphatidylcholine (By similarity). {ECO:0000250,ECO:0000269|PubMed:12746488, ECO:0000269|PubMed:20863990}. |
| 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 S100A13_GBA |
| 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 S100A13_GBA |
| 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 |
| S100A13 | IL1A, PHYHIP, SYT1, FGF1, STK4, THOC7, NUDT21, IGBP1, IRF9, PCYT1A, VAT1, CEP57, S100A13, PLEKHF2, MGST3, SNRNP27, SPRY2, SDC2, KIFAP3, CCL5 | GBA | NEDD4, HSP90AA1, HSPA4, TCP1, PARK2, CBL, FBXO6, SNCA, ATP6V1B1, ITCH, NUDCD1, PCBP2, NTRK1, ATP5J, CANX, DHCR24, FMR1, HSPD1, RPS6KA3, HSP90B1, CCT3, TOP3B, SCAMP3, INADL, HYOU1, CCT8, ZMYND11, B4GALT7, SKIV2L2, IMP3, BMP2K, ZCCHC8, FGD6, RNF20, JPH1, ZFP91, RAB27B, HCCS, COMT, RAB14, RAB21, POMK, ARL8B, RDH11, ESYT1 |
| - 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 S100A13_GBA |
| 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 |
| Hgene | S100A13 | Q99584 | DB00768 | Olopatadine | Protein S100-A13 | small molecule | approved |
| Hgene | S100A13 | Q99584 | DB01164 | Calcium Chloride | Protein S100-A13 | small molecule | approved |
| Hgene | S100A13 | Q99584 | DB11093 | Calcium Citrate | Protein S100-A13 | small molecule | approved |
| Hgene | S100A13 | Q99584 | DB11348 | Calcium Phosphate | Protein S100-A13 | small molecule | approved |
| Hgene | S100A13 | Q99584 | DB01025 | Amlexanox | Protein S100-A13 | small molecule | approved|investigational |
| Hgene | S100A13 | Q99584 | DB01373 | Calcium | Protein S100-A13 | small molecule | approved|nutraceutical |
| Tgene | GBA | P04062 | DB06720 | Velaglucerase alfa | Glucosylceramidase | biotech | approved|investigational |
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RelatedDiseases for S100A13_GBA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GBA | C1961835 | Gaucher Disease, Type 1 | 40 | ORPHANET;UNIPROT |
| Tgene | GBA | C0268250 | Gaucher Disease, Type 2 (disorder) | 12 | ORPHANET;UNIPROT |
| Tgene | GBA | C0017205 | Gaucher Disease | 5 | CTD_human |
| Tgene | GBA | C0030567 | Parkinson Disease | 2 | CTD_human |
| Tgene | GBA | C0020542 | Pulmonary Hypertension | 1 | CTD_human;HPO |
| Tgene | GBA | C0242422 | Parkinsonian Disorders | 1 | CTD_human |
| Tgene | GBA | C0268251 | Gaucher Disease, Type 3 (disorder) | 1 | ORPHANET;UNIPROT |
| Tgene | GBA | C0752347 | Lewy Body Disease | 1 | CTD_human |
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