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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:MYLK-SIAE (FusionGDB2 ID:56187) |
Fusion Gene Summary for MYLK-SIAE |
Fusion gene summary |
Fusion gene information | Fusion gene name: MYLK-SIAE | Fusion gene ID: 56187 | Hgene | Tgene | Gene symbol | MYLK | SIAE | Gene ID | 4638 | 54414 |
Gene name | myosin light chain kinase | sialic acid acetylesterase | |
Synonyms | AAT7|KRP|MLCK|MLCK1|MLCK108|MLCK210|MMIHS|MSTP083|MYLK1|smMLCK | AIS6|CSE-C|CSEC|LSE|YSG2 | |
Cytomap | 3q21.1 | 11q24.2 | |
Type of gene | protein-coding | protein-coding | |
Description | myosin light chain kinase, smooth musclekinase-related proteinmyosin, light polypeptide kinasesmooth muscle myosin light chain kinasetelokin | sialate O-acetylesteraseH-Lsecytosolic sialic acid 9-O-acetylesterase homologsialic acid-specific acetylesterase II | |
Modification date | 20200320 | 20200313 | |
UniProtAcc | Q15746 | . | |
Ensembl transtripts involved in fusion gene | ENST00000360772, ENST00000359169, ENST00000360304, ENST00000418370, ENST00000578202, ENST00000354792, ENST00000346322, ENST00000583087, ENST00000475616, ENST00000510775, | ENST00000263593, ENST00000545756, ENST00000525730, | |
Fusion gene scores | * DoF score | 17 X 15 X 7=1785 | 34 X 6 X 15=3060 |
# samples | 18 | 34 | |
** MAII score | log2(18/1785*10)=-3.30985526258679 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(34/3060*10)=-3.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MYLK [Title/Abstract] AND SIAE [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | MYLK(123331145)-SIAE(124543777), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | MYLK-SIAE seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. MYLK-SIAE seems lost the major protein functional domain in Hgene 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 |
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 |
Tgene | SIAE | GO:0005975 | carbohydrate metabolic process | 23308225 |
Fusion gene breakpoints across MYLK (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across SIAE (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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 | KIRC | TCGA-BP-4968-01A | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
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Fusion Gene ORF analysis for MYLK-SIAE |
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-3CDS | ENST00000360772 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000360772 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000360772 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
Frame-shift | ENST00000359169 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
5CDS-intron | ENST00000359169 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
5CDS-intron | ENST00000359169 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
Frame-shift | ENST00000360304 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
5CDS-intron | ENST00000360304 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
5CDS-intron | ENST00000360304 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000418370 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000418370 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000418370 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000578202 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000578202 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000578202 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000354792 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000354792 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000354792 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000346322 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000346322 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000346322 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000583087 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000583087 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000583087 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000475616 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000475616 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000475616 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-3CDS | ENST00000510775 | ENST00000263593 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000510775 | ENST00000545756 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
intron-intron | ENST00000510775 | ENST00000525730 | MYLK | chr3 | 123331145 | - | SIAE | chr11 | 124543777 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
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 |
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Fusion Genomic Features for MYLK-SIAE |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for MYLK-SIAE |
Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MYLK | . |
FUNCTION: Calcium/calmodulin-dependent myosin light chain kinase implicated in smooth muscle contraction via phosphorylation of myosin light chains (MLC). Also regulates actin-myosin interaction through a non-kinase activity. Phosphorylates PTK2B/PYK2 and myosin light-chains. Involved in the inflammatory response (e.g. apoptosis, vascular permeability, leukocyte diapedesis), cell motility and morphology, airway hyperreactivity and other activities relevant to asthma. Required for tonic airway smooth muscle contraction that is necessary for physiological and asthmatic airway resistance. Necessary for gastrointestinal motility. Implicated in the regulation of endothelial as well as vascular permeability, probably via the regulation of cytoskeletal rearrangements. In the nervous system it has been shown to control the growth initiation of astrocytic processes in culture and to participate in transmitter release at synapses formed between cultured sympathetic ganglion cells. Critical participant in signaling sequences that result in fibroblast apoptosis. Plays a role in the regulation of epithelial cell survival. Required for epithelial wound healing, especially during actomyosin ring contraction during purse-string wound closure. Mediates RhoA-dependent membrane blebbing. Triggers TRPC5 channel activity in a calcium-dependent signaling, by inducing its subcellular localization at the plasma membrane. Promotes cell migration (including tumor cells) and tumor metastasis. PTK2B/PYK2 activation by phosphorylation mediates ITGB2 activation and is thus essential to trigger neutrophil transmigration during acute lung injury (ALI). May regulate optic nerve head astrocyte migration. Probably involved in mitotic cytoskeletal regulation. Regulates tight junction probably by modulating ZO-1 exchange in the perijunctional actomyosin ring. Mediates burn-induced microvascular barrier injury; triggers endothelial contraction in the development of microvascular hyperpermeability by phosphorylating MLC. Essential for intestinal barrier dysfunction. Mediates Giardia spp.-mediated reduced epithelial barrier function during giardiasis intestinal infection via reorganization of cytoskeletal F-actin and tight junctional ZO-1. Necessary for hypotonicity-induced Ca(2+) entry and subsequent activation of volume-sensitive organic osmolyte/anion channels (VSOAC) in cervical cancer cells. Responsible for high proliferative ability of breast cancer cells through anti-apoptosis. {ECO:0000269|PubMed:11113114, ECO:0000269|PubMed:11976941, ECO:0000269|PubMed:15020676, ECO:0000269|PubMed:15825080, ECO:0000269|PubMed:16284075, ECO:0000269|PubMed:16723733, ECO:0000269|PubMed:18587400, ECO:0000269|PubMed:18710790, ECO:0000269|PubMed:19826488, ECO:0000269|PubMed:20139351, ECO:0000269|PubMed:20181817, ECO:0000269|PubMed:20375339, ECO:0000269|PubMed:20453870}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
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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Fusion Gene Sequence for MYLK-SIAE |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for MYLK-SIAE |
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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Related Drugs for MYLK-SIAE |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | MYLK | Q15746 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | MYLK | Q15746 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | MYLK | Q15746 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Hgene | MYLK | Q15746 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for MYLK-SIAE |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MYLK | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 6 | CLINGEN;GENOMICS_ENGLAND |
Hgene | MYLK | C3151077 | AORTIC ANEURYSM, FAMILIAL THORACIC 7 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | MYLK | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
Hgene | MYLK | C0027627 | Neoplasm Metastasis | 2 | CTD_human |
Hgene | MYLK | C0006114 | Cerebral Edema | 1 | CTD_human |
Hgene | MYLK | C0017178 | Gastrointestinal Diseases | 1 | CTD_human |
Hgene | MYLK | C0017601 | Glaucoma | 1 | CTD_human |
Hgene | MYLK | C0017638 | Glioma | 1 | CTD_human |
Hgene | MYLK | C0020443 | Hypercholesterolemia | 1 | CTD_human |
Hgene | MYLK | C0020517 | Hypersensitivity | 1 | CTD_human |
Hgene | MYLK | C0032285 | Pneumonia | 1 | CTD_human |
Hgene | MYLK | C0032300 | Lobar Pneumonia | 1 | CTD_human |
Hgene | MYLK | C0042373 | Vascular Diseases | 1 | CTD_human |
Hgene | MYLK | C0242488 | Acute Lung Injury | 1 | CTD_human |
Hgene | MYLK | C0259783 | mixed gliomas | 1 | CTD_human |
Hgene | MYLK | C0345050 | Congenital aneurysm of ascending aorta | 1 | GENOMICS_ENGLAND |
Hgene | MYLK | C0472387 | Vasogenic Cerebral Edema | 1 | CTD_human |
Hgene | MYLK | C0472388 | Cytotoxic Cerebral Edema | 1 | CTD_human |
Hgene | MYLK | C0555198 | Malignant Glioma | 1 | CTD_human |
Hgene | MYLK | C0559031 | Functional Gastrointestinal Disorders | 1 | CTD_human |
Hgene | MYLK | C0750969 | Vasogenic Brain Edema | 1 | CTD_human |
Hgene | MYLK | C0750970 | Cytotoxic Brain Edema | 1 | CTD_human |
Hgene | MYLK | C0887898 | Experimental Lung Inflammation | 1 | CTD_human |
Hgene | MYLK | C1527304 | Allergic Reaction | 1 | CTD_human |
Hgene | MYLK | C1527311 | Brain Edema | 1 | CTD_human |
Hgene | MYLK | C1565321 | Cholera Infantum | 1 | CTD_human |
Hgene | MYLK | C1608393 | Megacystis microcolon intestinal hypoperistalsis syndrome | 1 | GENOMICS_ENGLAND;ORPHANET |
Hgene | MYLK | C3714636 | Pneumonitis | 1 | CTD_human |
Tgene | SIAE | C3150797 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 | 1 | UNIPROT |