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Fusion gene ID: 23071 |
FusionGeneSummary for MYLK_USP48 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYLK_USP48 | Fusion gene ID: 23071 | Hgene | Tgene | Gene symbol | MYLK | USP48 | Gene ID | 4638 | 84196 |
| Gene name | myosin light chain kinase | ubiquitin specific peptidase 48 | |
| Synonyms | AAT7|KRP|MLCK|MLCK1|MLCK108|MLCK210|MSTP083|MYLK1|smMLCK | RAP1GA1|USP31 | |
| Cytomap | 3q21.1 | 1p36.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myosin light chain kinase, smooth musclekinase-related proteinmyosin, light polypeptide kinasesmooth muscle myosin light chain kinasetelokin | ubiquitin carboxyl-terminal hydrolase 48deubiquitinating enzyme 48ubiquitin specific protease 31ubiquitin thioesterase 48ubiquitin thiolesterase 48ubiquitin-specific-processing protease 48 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q15746 | Q86UV5 | |
| Ensembl transtripts involved in fusion gene | ENST00000360772, ENST00000359169, ENST00000360304, ENST00000418370, ENST00000578202, ENST00000354792, ENST00000346322, ENST00000583087, ENST00000475616, ENST00000510775, | ENST00000400301, ENST00000308271, ENST00000374732, ENST00000529637, ENST00000479177, ENST00000421625, | |
| Fusion gene scores | * DoF score | 10 X 8 X 5=400 | 7 X 8 X 6=336 |
| # samples | 11 | 8 | |
| ** MAII score | log2(11/400*10)=-1.86249647625006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MYLK [Title/Abstract] AND USP48 [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 | MYLK | GO:0030335 | positive regulation of cell migration | 19826488 |
| Hgene | MYLK | GO:0051928 | positive regulation of calcium ion transport | 16284075 |
| Hgene | MYLK | GO:0071476 | cellular hypotonic response | 11976941 |
| Hgene | MYLK | GO:0090303 | positive regulation of wound healing | 15825080 |
| 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 | RV | SARC | TCGA-WP-A9GB-01A | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| * 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 |
| In-frame | ENST00000360772 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000360772 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000360772 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000360772 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000360772 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000360772 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000359169 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000359169 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000359169 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000359169 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000359169 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000359169 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000360304 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000360304 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000360304 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000360304 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000360304 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000360304 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000418370 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000418370 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000418370 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000418370 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000418370 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000418370 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000578202 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000578202 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000578202 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000578202 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000578202 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000578202 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000354792 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000354792 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000354792 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000354792 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000354792 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000354792 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000346322 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000346322 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000346322 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| Frame-shift | ENST00000346322 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000346322 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000346322 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000583087 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000583087 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000583087 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000583087 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000583087 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000583087 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000475616 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000475616 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000475616 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| In-frame | ENST00000475616 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000475616 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| 5CDS-intron | ENST00000475616 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000510775 | ENST00000400301 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000510775 | ENST00000308271 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000510775 | ENST00000374732 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-3CDS | ENST00000510775 | ENST00000529637 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000510775 | ENST00000479177 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
| intron-intron | ENST00000510775 | ENST00000421625 | MYLK | chr3 | 123512524 | - | USP48 | chr1 | 22016592 | - |
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FusionProtFeatures for MYLK_USP48 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYLK | USP48 |