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Fusion Protein:BLOC1S1-CPM |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: BLOC1S1-CPM | FusionPDB ID: 9816 | FusionGDB2.0 ID: 9816 | Hgene | Tgene | Gene symbol | BLOC1S1 | CPM | Gene ID | 2647 | 1368 |
| Gene name | biogenesis of lysosomal organelles complex 1 subunit 1 | carboxypeptidase M | |
| Synonyms | BLOS1|BORCS1|GCN5L1|MICoA|RT14 | - | |
| Cytomap | 12q13.2 | 12q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | biogenesis of lysosome-related organelles complex 1 subunit 1BLOC-1 subunit 1GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1GCN5 general control of amino-acid synthesis 5-like 1GCN5-like protein 1MTA1-interacting coactivator | carboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase B | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | P78537 | P14384 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000257899, ENST00000548925, ENST00000549147, ENST00000547076, ENST00000551926, ENST00000548556, | ENST00000549691, ENST00000338356, ENST00000546373, ENST00000551568, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 1 X 2 X 1=2 | 48 X 16 X 10=7680 |
| # samples | 2 | 45 | |
| ** MAII score | log2(2/2*10)=3.32192809488736 | log2(45/7680*10)=-4.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: BLOC1S1 [Title/Abstract] AND CPM [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | BLOC1S1(56110789)-CPM(69279669), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | BLOC1S1-CPM seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. BLOC1S1-CPM seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 breakpoints across BLOC1S1 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CPM (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | SARC | TCGA-3B-A9HO-01A | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - |
| ChimerDB4 | SARC | TCGA-3B-A9HO-01A | BLOC1S1 | chr12 | 56110789 | + | CPM | chr12 | 69279669 | - |
| ChimerDB4 | SARC | TCGA-DX-A3LW-01A | BLOC1S1 | chr12 | 56110789 | + | CPM | chr12 | 69279669 | - |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000257899 | BLOC1S1 | chr12 | 56109980 | + | ENST00000546373 | CPM | chr12 | 69279669 | - | 2013 | 161 | 16 | 1332 | 438 |
| ENST00000257899 | BLOC1S1 | chr12 | 56109980 | + | ENST00000551568 | CPM | chr12 | 69279669 | - | 6595 | 161 | 16 | 1332 | 438 |
| ENST00000257899 | BLOC1S1 | chr12 | 56109980 | + | ENST00000338356 | CPM | chr12 | 69279669 | - | 6590 | 161 | 16 | 1332 | 438 |
| ENST00000548925 | BLOC1S1 | chr12 | 56109980 | + | ENST00000546373 | CPM | chr12 | 69279669 | - | 2012 | 160 | 15 | 1331 | 438 |
| ENST00000548925 | BLOC1S1 | chr12 | 56109980 | + | ENST00000551568 | CPM | chr12 | 69279669 | - | 6594 | 160 | 15 | 1331 | 438 |
| ENST00000548925 | BLOC1S1 | chr12 | 56109980 | + | ENST00000338356 | CPM | chr12 | 69279669 | - | 6589 | 160 | 15 | 1331 | 438 |
| ENST00000549147 | BLOC1S1 | chr12 | 56109980 | + | ENST00000546373 | CPM | chr12 | 69279669 | - | 2011 | 159 | 14 | 1330 | 438 |
| ENST00000549147 | BLOC1S1 | chr12 | 56109980 | + | ENST00000551568 | CPM | chr12 | 69279669 | - | 6593 | 159 | 14 | 1330 | 438 |
| ENST00000549147 | BLOC1S1 | chr12 | 56109980 | + | ENST00000338356 | CPM | chr12 | 69279669 | - | 6588 | 159 | 14 | 1330 | 438 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000257899 | ENST00000546373 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.00038103 | 0.9996189 |
| ENST00000257899 | ENST00000551568 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000240904 | 0.99975914 |
| ENST00000257899 | ENST00000338356 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000243111 | 0.9997569 |
| ENST00000548925 | ENST00000546373 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000379502 | 0.99962044 |
| ENST00000548925 | ENST00000551568 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000241981 | 0.99975806 |
| ENST00000548925 | ENST00000338356 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000244178 | 0.9997558 |
| ENST00000549147 | ENST00000546373 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000377863 | 0.9996221 |
| ENST00000549147 | ENST00000551568 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000241942 | 0.99975806 |
| ENST00000549147 | ENST00000338356 | BLOC1S1 | chr12 | 56109980 | + | CPM | chr12 | 69279669 | - | 0.000244118 | 0.9997559 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >9816_9816_1_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000257899_CPM_chr12_69279669_ENST00000338356_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_2_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000257899_CPM_chr12_69279669_ENST00000546373_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_3_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000257899_CPM_chr12_69279669_ENST00000551568_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_4_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000548925_CPM_chr12_69279669_ENST00000338356_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_5_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000548925_CPM_chr12_69279669_ENST00000546373_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_6_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000548925_CPM_chr12_69279669_ENST00000551568_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_7_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000549147_CPM_chr12_69279669_ENST00000338356_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_8_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000549147_CPM_chr12_69279669_ENST00000546373_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- >9816_9816_9_BLOC1S1-CPM_BLOC1S1_chr12_56109980_ENST00000549147_CPM_chr12_69279669_ENST00000551568_length(amino acids)=438AA_BP=48 MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQGRNLWVLVVGRFPKEHRIGIPEFKYVANMHGDETVGRELLLH LIDYLVTSDGKDPEITNLINSTRIHIMPSMNPDGFEAVKKPDCYYSIGRENYNQYDLNRNFPDAFEYNNVSRQPETVAVMKWLKTETFVL SANLHGGALVASYPFDNGVQATGALYSRSLTPDDDVFQYLAHTYASRNPNMKKGDECKNKMNFPNGVTNGYSWYPLQGGMQDYNYIWAQC FEITLELSCCKYPREEKLPSFWNNNKASLIEYIKQVHLGVKGQVFDQNGNPLPNVIVEVQDRKHICPYRTNKYGEYYLLLLPGSYIINVT -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:56110789/chr12:69279669) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BLOC1S1 | CPM |
| FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). {ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:25898167}.; FUNCTION: May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9. {ECO:0000269|PubMed:22309213}. | FUNCTION: Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins. {ECO:0000269|PubMed:12457462}. |
| 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. |
| - 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 |
| - 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 |
| Hgene | BLOC1S1 | chr12:56109980 | chr12:69279669 | ENST00000257899 | + | 1 | 4 | 27_59 | 20.333333333333332 | 126.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | BLOC1S1 | chr12:56109980 | chr12:69279669 | ENST00000548925 | + | 1 | 4 | 27_59 | 48.333333333333336 | 154.0 | Coiled coil | Ontology_term=ECO:0000255 |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| BLOC1S1 | |
| CPM |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to BLOC1S1-CPM |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to BLOC1S1-CPM |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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