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Fusion gene ID: 4551 |
FusionGeneSummary for BTC_SPIN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BTC_SPIN1 | Fusion gene ID: 4551 | Hgene | Tgene | Gene symbol | BTC | SPIN1 | Gene ID | 685 | 83985 |
| Gene name | betacellulin | sphingolipid transporter 1 (putative) | |
| Synonyms | - | HSpin1|LAT|PP2030|SPIN1|SPINL|nrs | |
| Cytomap | 4q13.3 | 16p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | probetacellulin | protein spinster homolog 1SPNS sphingolipid transporter 1 (putative)spinster homolog 1spinster-like protein 1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P35070 | Q9Y657 | |
| Ensembl transtripts involved in fusion gene | ENST00000395743, | ENST00000375859, ENST00000541629, ENST00000469017, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 5 X 6 X 1=30 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/30*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BTC [Title/Abstract] AND SPIN1 [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 | BI758136 | BTC | chr4 | 75695268 | - | SPIN1 | chr9 | 91083284 | + |
| * 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 | ENST00000395743 | ENST00000375859 | BTC | chr4 | 75695268 | - | SPIN1 | chr9 | 91083284 | + |
| Frame-shift | ENST00000395743 | ENST00000541629 | BTC | chr4 | 75695268 | - | SPIN1 | chr9 | 91083284 | + |
| 5CDS-3UTR | ENST00000395743 | ENST00000469017 | BTC | chr4 | 75695268 | - | SPIN1 | chr9 | 91083284 | + |
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FusionProtFeatures for BTC_SPIN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BTC | SPIN1 |
| Growth factor that binds to EGFR, ERBB4 and other EGFreceptor family members. Potent mitogen for retinal pigmentepithelial cells and vascular smooth muscle cells.{ECO:0000269|PubMed:8570211}. | Chromatin reader that specifically recognizes and bindshistone H3 both trimethylated at 'Lys-4' and asymmetricallydimethylated at 'Arg-8' (H3K4me3 and H3R8me2a) and acts as anactivator of Wnt signaling pathway downstream of PRMT2. In case ofcancer, promotes cell cancer proliferation via activation of theWnt signaling pathway (PubMed:24589551). Overexpression inducesmetaphase arrest and chromosomal instability. Localizes to activerDNA loci and promotes the expression of rRNA genes(PubMed:21960006). May play a role in cell-cycle regulation duringthe transition from gamete to embryo. Involved in oocyte meioticresumption, a process that takes place before ovulation to resumemeiosis of oocytes blocked in prophase I: may act by regulatingmaternal transcripts to control meiotic resumption.{ECO:0000269|PubMed:21960006, ECO:0000269|PubMed:22258766,ECO:0000269|PubMed:24589551, ECO:0000269|PubMed:29061846}. |
| 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 BTC_SPIN1 |
| 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 BTC_SPIN1 |
| 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 |
| BTC | KRT31, GMPPA, ERBB2 | SPIN1 | AGO3, ELAVL1, ARRB1, ARRB2, TCF3, GRK5, EIF4A3, MAGOH, SMURF1, YWHAE, UBL4A, NPM1, BAG3, PRMT6, SPIN2B, SPIN4, SUPT16H, BCLAF1, THRAP3, CGGBP1, SSRP1, YRDC, C11orf84, MCM2, ZGPAT, SF3A3, SCNM1, TOPORS, PAX3, HSPB1, HIST1H3E, GAN, CRBN, DUSP8, ZNF324B, C17orf89, CYLD, HSD17B10, SOD1, VDAC1 |
| - 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 BTC_SPIN1 |
| 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 BTC_SPIN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BTC | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | BTC | C0162568 | Erythropoietic Protoporphyria | 1 | CTD_human |
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