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Fusion gene ID: 35848 |
FusionGeneSummary for SPTBN1_MFN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPTBN1_MFN1 | Fusion gene ID: 35848 | Hgene | Tgene | Gene symbol | SPTBN1 | MFN1 | Gene ID | 6711 | 55669 |
| Gene name | spectrin beta, non-erythrocytic 1 | mitofusin 1 | |
| Synonyms | ELF|HEL102|SPTB2|betaSpII | hfzo1|hfzo2 | |
| Cytomap | 2p16.2 | 3q26.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | spectrin beta chain, non-erythrocytic 1beta-G spectrinbeta-II spectrinbeta-fodrinbeta-spectrin 2beta-spectrin IIbeta-spectrin non-erythrocytic 1embryonic liver beta-fodrinepididymis luminal protein 102fodrin beta chainspectrin beta chain, brain | mitofusin-1fzo homologmitochondrial transmembrane GTPase FZO-2mitochondrial transmembrane GTPase Fzo-1putative transmembrane GTPasetransmembrane GTPase MFN1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q01082 | Q8IWA4 | |
| Ensembl transtripts involved in fusion gene | ENST00000356805, ENST00000333896, | ENST00000280653, ENST00000471841, ENST00000263969, | |
| Fusion gene scores | * DoF score | 13 X 12 X 5=780 | 7 X 1 X 5=35 |
| # samples | 15 | 7 | |
| ** MAII score | log2(15/780*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/35*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SPTBN1 [Title/Abstract] AND MFN1 [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 | MFN1 | GO:0008053 | mitochondrial fusion | 20436456 |
| Tgene | MFN1 | GO:0046039 | GTP metabolic process | 27920125 |
| 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 | SKCM | TCGA-EE-A2GU-06A | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
| * 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-intron | ENST00000356805 | ENST00000280653 | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
| 5CDS-intron | ENST00000356805 | ENST00000471841 | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
| 5CDS-intron | ENST00000356805 | ENST00000263969 | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
| intron-intron | ENST00000333896 | ENST00000280653 | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
| intron-intron | ENST00000333896 | ENST00000471841 | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
| intron-intron | ENST00000333896 | ENST00000263969 | SPTBN1 | chr2 | 54896812 | + | MFN1 | chr3 | 179096011 | + |
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FusionProtFeatures for SPTBN1_MFN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPTBN1 | MFN1 |
| Fodrin, which seems to be involved in secretion,interacts with calmodulin in a calcium-dependent manner and isthus candidate for the calcium-dependent movement of thecytoskeleton at the membrane. | Mitochondrial outer membrane GTPase that mediatesmitochondrial clustering and fusion (PubMed:12475957,PubMed:12759376, PubMed:27920125, PubMed:28114303). Membraneclustering requires GTPase activity (PubMed:27920125). It mayinvolve a major rearrangement of the coiled coil domains(PubMed:27920125, PubMed:28114303). Mitochondria are highlydynamic organelles, and their morphology is determined by theequilibrium between mitochondrial fusion and fission events(PubMed:12475957, PubMed:12759376). Overexpression induces theformation of mitochondrial networks (in vitro) (PubMed:12759376).Has low GTPase activity (PubMed:27920125, PubMed:28114303).{ECO:0000269|PubMed:12475957, ECO:0000269|PubMed:12759376,ECO:0000269|PubMed:27920125, ECO:0000269|PubMed:28114303}. |
| 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 SPTBN1_MFN1 |
| 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 SPTBN1_MFN1 |
| 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 |
| SPTBN1 | EPB41L3, DCTN1, NF2, GRIA2, CTNNA1, SNCA, PJA1, MAPK14, MEF2C, STAT1, PLCB1, PYGO1, PACSIN1, SREBF2, GRB2, PLEKHA5, APC, CEBPA, SRRM2, AGO3, CDC5L, DISC1, CEP63, TRAF3IP1, SH3BP5, TNIK, ARRB2, SIRT7, CUL3, CDK2, CUL1, COPS5, NEDD8, GRK5, CBL, UBASH3B, PIK3R2, SHC1, AP2M1, SPTAN1, RBM8A, NENF, RABL2A, CDH2, DDX19A, SOD1, PSMA7, TXN2, POU2F1, DBN1, PRKCDBP, HSPA5, ESR1, EIF4A3, MAGOH, SMURF1, FN1, SMAD9, ZNF512B, UBL4A, SMAD3, ANK1, TPM1, TGFBR1, SMAD2, SMAD4, MYBL2, SVIL, PAN2, KIAA0101, FBXO6, EIF2B2, MOB4, TNKS1BP1, RPA1, RPA2, RPA3, TUBG1, WEE1, HSPB1, UNK, NCAPD3, MCM5, NXF1, NTRK1, PTEN, EWSR1, HIST1H3E, ADD1, CAPZA2, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, KATNA1, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, SNW1, FBXW7, THAP3, SPTBN1, GLTSCR2, SEPT8, COPB1, ZNF251, STXBP1, GOLGA6L10, EIF3H, CDH1, PDP1, PPM1B, PTP4A2, STYXL1, CYLD, TRIM25, BRCA1, TES | MFN1 | MARCH5, PARK2, ILF2, CCNB1, MAVS, FAF2, NTRK1, PLK2, SLC25A38, MFN2, TOMM22, FLNC, MGRN1, MFN1 |
| - 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 SPTBN1_MFN1 |
| 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 | SPTBN1 | Q01082 | DB01373 | Calcium | Spectrin beta chain, non-erythrocytic 1 | small molecule | approved|nutraceutical |
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RelatedDiseases for SPTBN1_MFN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SPTBN1 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | MFN1 | C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | 1 | CTD_human |
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