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Fusion Protein:EHMT1-CACNA1B |
Fusion Gene and Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: EHMT1-CACNA1B | FusionPDB ID: 25580 | FusionGDB2.0 ID: 25580 | Hgene | Tgene | Gene symbol | EHMT1 | CACNA1B | Gene ID | 79813 | 774 |
| Gene name | euchromatic histone lysine methyltransferase 1 | calcium voltage-gated channel subunit alpha1 B | |
| Synonyms | EHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1D | BIII|CACNL1A5|CACNN|Cav2.2|DYT23|NEDNEH | |
| Cytomap | 9q34.3 | 9q34.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase EHMT1EHMT1 intronic transcript 1G9a-like protein 1H3-K9-HMTase 5euchromatic histone-lysine N-methyltransferase 1histone H3-K9 methyltransferase 5histone-lysine N-methyltransferase, H3 lysine-9 specific 5lysine N-m | voltage-dependent N-type calcium channel subunit alpha-1BCav2.2 voltage-gated Ca2+ channelbrain calcium channel IIIcalcium channel alpha12.2 subunitcalcium channel, L type, alpha-1 polypeptidecalcium channel, voltage-dependent, L type, alpha 1B subun | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9H9B1 Main function of 5'-partner protein: FUNCTION: Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. During G0 phase, it probably contributes to silencing of MYC- and E2F-responsive genes, suggesting a role in G0/G1 transition in cell cycle. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Represses the expression of mitochondrial function-related genes, perhaps by occupying their promoter regions, working in concert with probable chromatin reader BAZ2B (By similarity). {ECO:0000250|UniProtKB:Q5DW34, ECO:0000269|PubMed:12004135, ECO:0000269|PubMed:20118233}. | Q00975 Main function of 5'-partner protein: FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1B gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by omega-conotoxin-GVIA (AC P01522) (AC P01522) (By similarity). They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. {ECO:0000250|UniProtKB:Q02294}. | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000371394, ENST00000334856, ENST00000460843, ENST00000462484, | ENST00000277551, ENST00000371372, ENST00000277549, ENST00000371355, ENST00000371357, ENST00000371363, ENST00000277550, ENST00000371365, ENST00000371367, ENST00000545473, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 9 X 8=1080 | 7 X 8 X 4=224 |
| # samples | 20 | 7 | |
| ** MAII score | log2(20/1080*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/224*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Fusion gene context | PubMed: EHMT1 [Title/Abstract] AND CACNA1B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Fusion neoantigen context | PubMed: EHMT1 [Title/Abstract] AND CACNA1B [Title/Abstract] AND neoantigen [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | EHMT1(140611634)-CACNA1B(140846726), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | EHMT1-CACNA1B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EHMT1-CACNA1B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. EHMT1-CACNA1B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. EHMT1-CACNA1B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 |
| Hgene | EHMT1 | GO:0006325 | chromatin organization | 12004135 |
| Hgene | EHMT1 | GO:0016571 | histone methylation | 12004135 |
| Hgene | EHMT1 | GO:0018027 | peptidyl-lysine dimethylation | 20118233 |
| Tgene | CACNA1B | GO:0050804 | modulation of chemical synaptic transmission | 23376566 |
| Tgene | CACNA1B | GO:1904645 | response to amyloid-beta | 23376566 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:140611634/chr9:140846726) - 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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| Retention analysis results 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, are available here. |
| Fusion gene breakpoints across EHMT1 (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 CACNA1B (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 Amino Acid Sequences |
| 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) |
| ENST00000462484 | EHMT1 | chr9 | 140611634 | + | ENST00000277551 | CACNA1B | chr9 | 140846726 | + | 6726 | 679 | 22 | 6426 | 2134 |
| ENST00000462484 | EHMT1 | chr9 | 140611634 | + | ENST00000371372 | CACNA1B | chr9 | 140846726 | + | 9358 | 679 | 22 | 6732 | 2236 |
| ENST00000334856 | EHMT1 | chr9 | 140611634 | + | ENST00000277551 | CACNA1B | chr9 | 140846726 | + | 6726 | 679 | 22 | 6426 | 2134 |
| ENST00000334856 | EHMT1 | chr9 | 140611634 | + | ENST00000371372 | CACNA1B | chr9 | 140846726 | + | 9358 | 679 | 22 | 6732 | 2236 |
| ENST00000460843 | EHMT1 | chr9 | 140611634 | + | ENST00000277551 | CACNA1B | chr9 | 140846726 | + | 6716 | 669 | 12 | 6416 | 2134 |
| ENST00000460843 | EHMT1 | chr9 | 140611634 | + | ENST00000371372 | CACNA1B | chr9 | 140846726 | + | 9348 | 669 | 12 | 6722 | 2236 |
| 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 |
| ENST00000462484 | ENST00000277551 | EHMT1 | chr9 | 140611634 | + | CACNA1B | chr9 | 140846726 | + | 0.003268793 | 0.99673116 |
| ENST00000462484 | ENST00000371372 | EHMT1 | chr9 | 140611634 | + | CACNA1B | chr9 | 140846726 | + | 0.001286551 | 0.9987135 |
| ENST00000334856 | ENST00000277551 | EHMT1 | chr9 | 140611634 | + | CACNA1B | chr9 | 140846726 | + | 0.003268793 | 0.99673116 |
| ENST00000334856 | ENST00000371372 | EHMT1 | chr9 | 140611634 | + | CACNA1B | chr9 | 140846726 | + | 0.001286551 | 0.9987135 |
| ENST00000460843 | ENST00000277551 | EHMT1 | chr9 | 140611634 | + | CACNA1B | chr9 | 140846726 | + | 0.003297579 | 0.9967024 |
| ENST00000460843 | ENST00000371372 | EHMT1 | chr9 | 140611634 | + | CACNA1B | chr9 | 140846726 | + | 0.001292024 | 0.998708 |
| Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones. |
Get the fusion protein sequences from here. |
| Fusion protein sequence information is available in the fasta format. >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP |
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Fusion Protein Breakpoint Sequences for EHMT1-CACNA1B |
| +/-13 AA sequence from the breakpoints of the fusion protein sequences. |
| Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Length(fusion protein) | BP in fusion protein | Peptide |
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Potential FusionNeoAntigen Information of EHMT1-CACNA1B in HLA I |
| Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific. |
| Potential FusionNeoAntigen Information * We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5) |
| Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA I | FusionNeoAntigen peptide | Binding score | Immunogenic score | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Potential FusionNeoAntigen Information of EHMT1-CACNA1B in HLA II |
| Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific. |
| Potential FusionNeoAntigen Information * We used NetMHCIIpan v4.1 (%rank<0.5). |
| Fusion gene | Hchr | Hbp | Tgene | Tchr | Tbp | HLA II | FusionNeoAntigen peptide | Neoantigen start (at BP 13) | Neoantigen end (at BP 13) |
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Fusion breakpoint peptide structures of EHMT1-CACNA1B |
| 3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens * The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA. |
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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of EHMT1-CACNA1B |
| Virtual screening between 25 HLAs (from PDB) and FusionNeoAntigens * We used Glide to predict the interaction between HLAs and neoantigens. |
| HLA allele | PDB ID | File name | BPseq | Docking score | Glide score |
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Vaccine Design for the FusionNeoAntigens of EHMT1-CACNA1B |
| mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is. |
| Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide sequence | FusionNeoAntigen RNA sequence |
| mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs. |
| Fusion gene | Hchr | Hbp | Tchr | Tbp | Start in +/-13AA | End in +/-13AA | FusionNeoAntigen peptide | FusionNEoAntigen RNA sequence |
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Information of the samples that have these potential fusion neoantigens of EHMT1-CACNA1B |
| These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens. |
| Cancer type | Fusion gene | Hchr | Hbp | Henst | Tchr | Tbp | Tenst | Sample |
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Potential target of CAR-T therapy development for EHMT1-CACNA1B |
| Predicted 3D structure. We used RoseTTAFold. |
| 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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features * Minus value of BPloci means that the break point is located before the CDS. |
| - In-frame and retained 'Transmembrane'. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1152_1169 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS1 of repeat III | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1186_1205 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS2 of repeat III | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1218_1236 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS3 of repeat III | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1247_1265 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS4 of repeat III | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1285_1304 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS5 of repeat III | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1392_1416 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS6 of repeat III | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1472_1490 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS1 of repeat IV | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1506_1525 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS2 of repeat IV | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1534_1552 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS3 of repeat IV | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1564_1582 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS4 of repeat IV | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1602_1621 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS5 of repeat IV | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 1684_1708 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS6 of repeat IV | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 332_356 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS6 of repeat I | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 483_501 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS1 of repeat II | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 517_536 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS2 of repeat II | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 545_562 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS3 of repeat II | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 574_592 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS4 of repeat II | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 612_631 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS5 of repeat II | |
| Tgene | CACNA1B | chr9:140611634 | chr9:140846726 | ENST00000371372 | 5 | 47 | 685_709 | 0 | 2340.0 | Transmembrane | Helical%3B Name%3DS6 of repeat II |
| Subcellular localization prediction of the transmembrane domain retained fusion proteins * We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image. |
| Hgene | Hchr | Hbp | Henst | Tgene | Tchr | Tbp | Tenst | DeepLoc result |
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Related Drugs to EHMT1-CACNA1B |
| 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 EHMT1-CACNA1B |
| 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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