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Fusion gene ID: 20685 |
FusionGeneSummary for MALSU1_GPNMB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MALSU1_GPNMB | Fusion gene ID: 20685 | Hgene | Tgene | Gene symbol | MALSU1 | GPNMB | Gene ID | 115416 | 10457 |
| Gene name | mitochondrial assembly of ribosomal large subunit 1 | glycoprotein nmb | |
| Synonyms | C7orf30|mtRsfA | HGFIN|NMB|PLCA3 | |
| Cytomap | 7p15.3 | 7p15.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial assembly of ribosomal large subunit protein 1 | transmembrane glycoprotein NMBglycoprotein (transmembrane) nmbglycoprotein nmb-like proteinglycoprotein nonmetastatic melanoma protein Bhematopoietic growth factor inducible neurokinin-1osteoactivintransmembrane glycoprotein HGFIN | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96EH3 | Q14956 | |
| Ensembl transtripts involved in fusion gene | ENST00000479974, ENST00000466681, | ENST00000258733, ENST00000381990, ENST00000409458, ENST00000539136, ENST00000453162, ENST00000478451, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MALSU1 [Title/Abstract] AND GPNMB [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 | MALSU1 | GO:0070130 | negative regulation of mitochondrial translation | 22829778 |
| Tgene | GPNMB | GO:0001818 | negative regulation of cytokine production | 19350579 |
| Tgene | GPNMB | GO:0001934 | positive regulation of protein phosphorylation | 22891158 |
| Tgene | GPNMB | GO:0030335 | positive regulation of cell migration | 20711474 |
| Tgene | GPNMB | GO:0031954 | positive regulation of protein autophosphorylation | 19350579 |
| Tgene | GPNMB | GO:0034103 | regulation of tissue remodeling | 25010402 |
| Tgene | GPNMB | GO:0042130 | negative regulation of T cell proliferation | 19350579 |
| Tgene | GPNMB | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 19350579 |
| 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 | LD | SKCM | TCGA-BF-AAP1-01A | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| * 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 |
| intron-3CDS | ENST00000479974 | ENST00000258733 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| intron-3CDS | ENST00000479974 | ENST00000381990 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| intron-intron | ENST00000479974 | ENST00000409458 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| intron-intron | ENST00000479974 | ENST00000539136 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| intron-intron | ENST00000479974 | ENST00000453162 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| intron-intron | ENST00000479974 | ENST00000478451 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| In-frame | ENST00000466681 | ENST00000258733 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| In-frame | ENST00000466681 | ENST00000381990 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| 5CDS-intron | ENST00000466681 | ENST00000409458 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| 5CDS-intron | ENST00000466681 | ENST00000539136 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| 5CDS-intron | ENST00000466681 | ENST00000453162 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
| 5CDS-intron | ENST00000466681 | ENST00000478451 | MALSU1 | chr7 | 23347568 | + | GPNMB | chr7 | 23306136 | + |
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FusionProtFeatures for MALSU1_GPNMB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MALSU1 | GPNMB |
| May function as a ribosomal silencing factor. Additionto isolated mitochondrial ribosomal subunits partially inhibitstranslation. Interacts with mitochondrial ribosomal protein L14(MRPL14), probably blocking formation of intersubunit bridge B8,preventing association of the 28S and 39S ribosomal subunits andthe formation of functional ribosomes, thus repressingtranslation. May also participate in the assembly and/orregulation of the stability of the large subunit of themitochondrial ribosome. {ECO:0000269|PubMed:22238376}. | Could be a melanogenic enzyme. {ECO:0000250}. |
| 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 MALSU1_GPNMB |
| 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 MALSU1_GPNMB |
| 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 |
| MALSU1 | ICT1, CHMP2B, SSBP1, DCTD, MRPL43, MRPL28, HNRNPDL, ZC3H3, MRPL4, HNRNPA1, MRPL39, RBMX, MRPL37, MRPS30, MRPL47, EXOSC2, MRPL41, MRPL50, MRPL10, MRPL42, DDX28, MRPL35, MRPL12, PDGFB, RBM42, GNRH1, CIRBP, MCAT, PHF19, RNMTL1, JPH4, ZNF274, TRIM25 | GPNMB | ITSN2, SMAD4, IL31RA, TFEB, FBXL4, LINC01139, EGFR |
| - 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 MALSU1_GPNMB |
| 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 MALSU1_GPNMB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | GPNMB | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Tgene | GPNMB | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | GPNMB | C0162557 | Liver Failure, Acute | 1 | CTD_human |
| Tgene | GPNMB | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | GPNMB | C2609414 | Acute kidney injury | 1 | CTD_human |
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