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Fusion gene ID: 20706 |
FusionGeneSummary for MAML2_MYO5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAML2_MYO5A | Fusion gene ID: 20706 | Hgene | Tgene | Gene symbol | MAML2 | MYO5A | Gene ID | 84441 | 4644 |
| Gene name | mastermind like transcriptional coactivator 2 | myosin VA | |
| Synonyms | MAM-3|MAM2|MAM3|MLL-MAML2 | GS1|MYH12|MYO5|MYR12 | |
| Cytomap | 11q21 | 15q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mastermind-like protein 2mam-2mastermind-like 2 | unconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxin | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q8IZL2 | Q9Y4I1 | |
| Ensembl transtripts involved in fusion gene | ENST00000524717, | ENST00000399231, ENST00000356338, ENST00000358212, ENST00000399233, ENST00000553916, | |
| Fusion gene scores | * DoF score | 11 X 8 X 5=440 | 10 X 11 X 7=770 |
| # samples | 12 | 10 | |
| ** MAII score | log2(12/440*10)=-1.87446911791614 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/770*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAML2 [Title/Abstract] AND MYO5A [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 | MAML2 | GO:0007219 | Notch signaling pathway | 12370315 |
| Hgene | MAML2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
| 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 | AW895156 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| * 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-3UTR | ENST00000524717 | ENST00000399231 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-3UTR | ENST00000524717 | ENST00000356338 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-3UTR | ENST00000524717 | ENST00000358212 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-3UTR | ENST00000524717 | ENST00000399233 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
| intron-intron | ENST00000524717 | ENST00000553916 | MAML2 | chr11 | 95961389 | + | MYO5A | chr15 | 52603214 | + |
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FusionProtFeatures for MAML2_MYO5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAML2 | MYO5A |
| Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. Potentiates activation by NOTCH3 and NOTCH4 more efficientlythan MAML1 or MAML3. {ECO:0000269|PubMed:12370315,ECO:0000269|PubMed:12386158, ECO:0000269|PubMed:12539049}. | Processive actin-based motor that can move in largesteps approximating the 36-nm pseudo-repeat of the actin filament.Involved in melanosome transport. Also mediates the transport ofvesicles to the plasma membrane. May also be required for somepolarization process involved in dendrite formation.{ECO:0000269|PubMed:10448864}. |
| 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 MAML2_MYO5A |
| 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 MAML2_MYO5A |
| 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 MAML2_MYO5A |
| 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 MAML2_MYO5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAML2 | C3495559 | Juvenile arthritis | 1 | CTD_human |
| Tgene | MYO5A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | MYO5A | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
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