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Fusion Protein:SMS-DYRK2 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: SMS-DYRK2 | FusionPDB ID: 84280 | FusionGDB2.0 ID: 84280 | Hgene | Tgene | Gene symbol | SMS | DYRK2 | Gene ID | 10743 | 8445 |
| Gene name | retinoic acid induced 1 | dual specificity tyrosine phosphorylation regulated kinase 2 | |
| Synonyms | SMCR|SMS | - | |
| Cytomap | 17p11.2 | 12q15 | |
| Type of gene | protein-coding | protein-coding | |
| Description | retinoic acid-induced protein 1Smith-Magenis syndrome chromosome region | dual specificity tyrosine-phosphorylation-regulated kinase 2dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q92630 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000478094, ENST00000379404, ENST00000404933, ENST00000415881, | ENST00000344096, ENST00000537632, ENST00000393555, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 1 X 4=16 | 8 X 5 X 7=280 |
| # samples | 4 | 8 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: SMS [Title/Abstract] AND DYRK2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SMS(21958991)-DYRK2(68043577), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | SMS-DYRK2 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. SMS-DYRK2 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. SMS-DYRK2 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. SMS-DYRK2 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. SMS-DYRK2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. SMS-DYRK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SMS-DYRK2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. SMS-DYRK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. SMS-DYRK2 seems lost the major protein functional domain in Tgene partner, which is a kinase 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 | SMS | GO:0045893 | positive regulation of transcription, DNA-templated | 22578325 |
| Tgene | DYRK2 | GO:0006468 | protein phosphorylation | 11311121 |
| Tgene | DYRK2 | GO:0042771 | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 17349958 |
| Tgene | DYRK2 | GO:0045725 | positive regulation of glycogen biosynthetic process | 11311121 |
| Fusion gene breakpoints across SMS (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 DYRK2 (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 Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | BRCA | TCGA-E2-A14T-01A | SMS | chrX | 21958991 | + | DYRK2 | chr12 | 68043577 | + |
| ChimerDB4 | BRCA | TCGA-E2-A14T-01A | SMS | chrX | 21958991 | + | DYRK2 | chr12 | 68050886 | + |
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Fusion ORF Analysis |
| 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) |
| ENST00000404933 | SMS | chrX | 21958991 | + | ENST00000344096 | DYRK2 | chr12 | 68043577 | + | 8751 | 301 | 252 | 2057 | 601 |
| ENST00000379404 | SMS | chrX | 21958991 | + | ENST00000344096 | DYRK2 | chr12 | 68043577 | + | 8609 | 159 | 110 | 1915 | 601 |
| 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 |
| ENST00000404933 | ENST00000344096 | SMS | chrX | 21958991 | + | DYRK2 | chr12 | 68043577 | + | 0.000686637 | 0.99931335 |
| ENST00000379404 | ENST00000344096 | SMS | chrX | 21958991 | + | DYRK2 | chr12 | 68043577 | + | 0.000671921 | 0.99932814 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >84280_84280_1_SMS-DYRK2_SMS_chrX_21958991_ENST00000379404_DYRK2_chr12_68043577_ENST00000344096_length(amino acids)=601AA_BP=16 MAAARHSTLDFMLGAKGRGGDSAVRQLQASPGLGAGATRSGVGTGPPSPIALPPLRASNAAAAAHTIGGSKHTMNDHLHVGSHAHGQIQV QQLFEDNSNKRTVLTTQPNGLTTVGKTGLPVVPERQLDSIHRRQGSSTSLKSMEGMGKVKATPMTPEQAMKQYMQKLTAFEHHEIFSYPE IYFLGLNAKKRQGMTGGPNNGGYDDDQGSYVQVPHDHVAYRYEVLKVIGKGSFGQVVKAYDHKVHQHVALKMVRNEKRFHRQAAEEIRIL EHLRKQDKDNTMNVIHMLENFTFRNHICMTFELLSMNLYELIKKNKFQGFSLPLVRKFAHSILQCLDALHKNRIIHCDLKPENILLKQQG RSGIKVIDFGSSCYEHQRVYTYIQSRFYRAPEVILGARYGMPIDMWSLGCILAELLTGYPLLPGEDEGDQLACMIELLGMPSQKLLDASK RAKNFVSSKGYPRYCTVTTLSDGSVVLNGGRSRRGKLRGPPESREWGNALKGCDDPLFLDFLKQCLEWDPAVRMTPGQALRHPWLRRRLP -------------------------------------------------------------- >84280_84280_2_SMS-DYRK2_SMS_chrX_21958991_ENST00000404933_DYRK2_chr12_68043577_ENST00000344096_length(amino acids)=601AA_BP=16 MAAARHSTLDFMLGAKGRGGDSAVRQLQASPGLGAGATRSGVGTGPPSPIALPPLRASNAAAAAHTIGGSKHTMNDHLHVGSHAHGQIQV QQLFEDNSNKRTVLTTQPNGLTTVGKTGLPVVPERQLDSIHRRQGSSTSLKSMEGMGKVKATPMTPEQAMKQYMQKLTAFEHHEIFSYPE IYFLGLNAKKRQGMTGGPNNGGYDDDQGSYVQVPHDHVAYRYEVLKVIGKGSFGQVVKAYDHKVHQHVALKMVRNEKRFHRQAAEEIRIL EHLRKQDKDNTMNVIHMLENFTFRNHICMTFELLSMNLYELIKKNKFQGFSLPLVRKFAHSILQCLDALHKNRIIHCDLKPENILLKQQG RSGIKVIDFGSSCYEHQRVYTYIQSRFYRAPEVILGARYGMPIDMWSLGCILAELLTGYPLLPGEDEGDQLACMIELLGMPSQKLLDASK RAKNFVSSKGYPRYCTVTTLSDGSVVLNGGRSRRGKLRGPPESREWGNALKGCDDPLFLDFLKQCLEWDPAVRMTPGQALRHPWLRRRLP -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chrX:21958991/chr12:68043577) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | DYRK2 |
| 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. | FUNCTION: Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosphorylates EIF2B5 at 'Ser-544', enabling its subsequent phosphorylation and inhibition by GSK3B. Likewise, phosphorylation of NFATC1, CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequent phosphorylation by GSK3B. May play a general role in the priming of GSK3 substrates. Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thus regulating glycogen synthesis. Mediates EDVP E3 ligase complex formation and is required for the phosphorylation and subsequent degradation of KATNA1. Phosphorylates TERT at 'Ser-457', promoting TERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, and thereby increases its ubiquitin ligase activity. Promotes the proteasomal degradation of MYC and JUN, and thereby regulates progress through the mitotic cell cycle and cell proliferation. Promotes proteasomal degradation of GLI2 and GLI3, and thereby plays a role in smoothened and sonic hedgehog signaling. Plays a role in cytoskeleton organization and neurite outgrowth via its phosphorylation of DCX and DPYSL2. Phosphorylates CRMP2/DPYSL2, CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2, MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylate histone H1, histone H3 and histone H2B (in vitro). Can phosphorylate CARHSP1 (in vitro). {ECO:0000269|PubMed:11311121, ECO:0000269|PubMed:12588975, ECO:0000269|PubMed:14593110, ECO:0000269|PubMed:15910284, ECO:0000269|PubMed:16511445, ECO:0000269|PubMed:16611631, ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:18455992, ECO:0000269|PubMed:18599021, ECO:0000269|PubMed:19287380, ECO:0000269|PubMed:22307329, ECO:0000269|PubMed:22878263, ECO:0000269|PubMed:23362280, ECO:0000269|PubMed:9748265}. |
| 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. |
| - 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 |
| Tgene | DYRK2 | chrX:21958991 | chr12:68043577 | ENST00000344096 | 0 | 3 | 222_535 | 16.333333333333332 | 602.0 | Domain | Protein kinase | |
| Tgene | DYRK2 | chrX:21958991 | chr12:68043577 | ENST00000393555 | 0 | 2 | 222_535 | 0 | 529.0 | Domain | Protein kinase | |
| Tgene | DYRK2 | chrX:21958991 | chr12:68043577 | ENST00000344096 | 0 | 3 | 228_236 | 16.333333333333332 | 602.0 | Nucleotide binding | ATP | |
| Tgene | DYRK2 | chrX:21958991 | chr12:68043577 | ENST00000344096 | 0 | 3 | 301_304 | 16.333333333333332 | 602.0 | Nucleotide binding | ATP | |
| Tgene | DYRK2 | chrX:21958991 | chr12:68043577 | ENST00000393555 | 0 | 2 | 228_236 | 0 | 529.0 | Nucleotide binding | ATP | |
| Tgene | DYRK2 | chrX:21958991 | chr12:68043577 | ENST00000393555 | 0 | 2 | 301_304 | 0 | 529.0 | Nucleotide binding | ATP |
| - 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 |
| Hgene | SMS | chrX:21958991 | chr12:68043577 | ENST00000379404 | + | 1 | 9 | 122_362 | 16.333333333333332 | 314.0 | Domain | PABS |
| Hgene | SMS | chrX:21958991 | chr12:68043577 | ENST00000404933 | + | 1 | 11 | 122_362 | 16.333333333333332 | 367.0 | Domain | PABS |
| Hgene | SMS | chrX:21958991 | chr12:68043577 | ENST00000379404 | + | 1 | 9 | 255_256 | 16.333333333333332 | 314.0 | Region | Note=S-adenosylmethioninamine binding |
| Hgene | SMS | chrX:21958991 | chr12:68043577 | ENST00000404933 | + | 1 | 11 | 255_256 | 16.333333333333332 | 367.0 | Region | Note=S-adenosylmethioninamine binding |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| SMS | |
| DYRK2 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to SMS-DYRK2 |
| 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 SMS-DYRK2 |
| 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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