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Fusion gene ID: 23041 |
FusionGeneSummary for MYL2_SNRPN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYL2_SNRPN | Fusion gene ID: 23041 | Hgene | Tgene | Gene symbol | MYL2 | SNRPN | Gene ID | 4633 | 6638 |
| Gene name | myosin light chain 2 | small nuclear ribonucleoprotein polypeptide N | |
| Synonyms | CMH10|MLC-2s/v|MLC2 | HCERN3|PWCR|RT-LI|SM-D|SMN|SNRNP-N|SNURF-SNRPN|sm-N | |
| Cytomap | 12q24.11 | 15q11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myosin regulatory light chain 2, ventricular/cardiac muscle isoformMLC-2MLC-2vRLC of myosincardiac myosin light chain 2cardiac ventricular myosin light chain 2myosin light chain 2, slow skeletal/ventricular muscle isoformmyosin, light chain 2, regu | small nuclear ribonucleoprotein-associated protein NSM protein Nsm protein Dtissue-specific splicing protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | P10916 | P63162 | |
| Ensembl transtripts involved in fusion gene | ENST00000228841, ENST00000548438, | ENST00000400098, ENST00000400100, ENST00000400097, ENST00000553597, ENST00000390687, ENST00000346403, ENST00000554227, ENST00000577565, ENST00000444203, | |
| Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 7 X 10 X 2=140 |
| # samples | 3 | 11 | |
| ** MAII score | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/140*10)=-0.347923303420307 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MYL2 [Title/Abstract] AND SNRPN [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 | AI453127 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| * 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-intron | ENST00000228841 | ENST00000400098 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000400100 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000400097 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000553597 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000390687 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000346403 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000554227 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000577565 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000228841 | ENST00000444203 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000400098 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000400100 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000400097 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000553597 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000390687 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000346403 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000554227 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000577565 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
| intron-intron | ENST00000548438 | ENST00000444203 | MYL2 | chr12 | 111348778 | + | SNRPN | chr15 | 25333806 | - |
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FusionProtFeatures for MYL2_SNRPN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYL2 | SNRPN |
| Contractile protein that plays a role in heartdevelopment and function (By similarity). Followingphosphorylation, plays a role in cross-bridge cycling kinetics andcardiac muscle contraction by increasing myosin lever armstiffness and promoting myosin head diffusion; as a consequence ofthe increase in maximum contraction force and calcium sensitivityof contraction force. These events altogether slow down myosinkinetics and prolong duty cycle resulting in accumulated myosinsbeing cooperatively recruited to actin binding sites to sustainthin filament activation as a means to fine-tune myofilamentcalcium sensitivity to force (By similarity). During cardiogenesisplays an early role in cardiac contractility by promoting cardiacmyofibril assembly (By similarity). {ECO:0000250|UniProtKB:P08733,ECO:0000250|UniProtKB:P51667}. | May be involved in tissue-specific alternative RNAprocessing events. |
| 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 MYL2_SNRPN |
| 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 MYL2_SNRPN |
| 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 |
| - 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 MYL2_SNRPN |
| 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 MYL2_SNRPN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MYL2 | C1834460 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 | 4 | CTD_human;UNIPROT |
| Hgene | MYL2 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human;HPO |
| Hgene | MYL2 | C0949658 | Cardiomyopathy, Hypertrophic, Familial | 1 | CTD_human |
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