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Kinase Fusion Gene:RPL37A_ERBB4 |
Kinase Fusion Protein Summary |
 Kinase Fusion gene summary |
| Kinase Fusion partner gene information | Kinase Fusion gene name: RPL37A_ERBB4 | KinaseFusionDB ID: KFG5514 | FusionGDB2.0 ID: KFG5514 | Hgene | Tgene | Gene symbol | RPL37A | ERBB4 | Gene ID | 6168 | 2066 | |
| Gene name | ribosomal protein L37a | erb-b2 receptor tyrosine kinase 4 | ||||||||||
| Synonyms | L37A|eL43 | ALS19|HER4|p180erbB4 | ||||||||||
| Cytomap | 2q35 | 2q34 | ||||||||||
| Type of gene | protein-coding | protein-coding | ||||||||||
| Description | large ribosomal subunit protein eL4360S ribosomal protein L37a | receptor tyrosine-protein kinase erbB-4avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosine kinase-type cell surface receptor HER4v-erb-a erythroblastic | ||||||||||
| Modification date | 20240411 | 20240411 | ||||||||||
| UniProtAcc | P61513 | Q15303 | ||||||||||
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000427280, ENST00000441179, ENST00000446558, ENST00000456586, ENST00000491306, ENST00000598925, ENST00000600880, | ENST00000484474, ENST00000342788, ENST00000402597, ENST00000436443, | |||||||||
| Context (manual curation of fusion genes in KinaseFusionDB) | PubMed: RPL37A [Title/Abstract] AND ERBB4 [Title/Abstract] AND fusion [Title/Abstract] | |||||||||||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RPL37A(217364754)-ERBB4(212652884), # samples:1 | |||||||||||
| 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 |
| Tgene | ERBB4 | GO:0007165 | signal transduction | 10572067 |
| Tgene | ERBB4 | GO:0007169 | cell surface receptor protein tyrosine kinase signaling pathway | 10353604|18334220 |
| Tgene | ERBB4 | GO:0016477 | cell migration | 9135143 |
| Tgene | ERBB4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 18334220 |
| Tgene | ERBB4 | GO:0038130 | ERBB4 signaling pathway | 9275162|12466964 |
| Tgene | ERBB4 | GO:0038138 | ERBB4-ERBB4 signaling pathway | 9275162|12466964 |
| Tgene | ERBB4 | GO:0046777 | protein autophosphorylation | 18334220 |
| Kinase Fusion gene breakpoints across RPL37A (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Kinase Fusion gene breakpoints across ERBB4 (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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Kinase Fusion Gene Sample Information |
| Kinase Fusion gene information. |
| Kinase Fusion gene information from four resources (ChiTars 5.0, ChimerDB 4.0, COSMIC, and CCLE) * 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 | Sample | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp |
| ChimerDB4 | TCGA-BR-A4QI-01A | RPL37A | chr2 | 217364754 | ERBB4 | chr2 | 212652884 |
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Kinase Fusion ORF Analysis |
| Kinase Fusion information from ORFfinder translation from full-length transcript sequence from KinaseFusionDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Tgene | Tchr | Tbp | Seq length (transcript) | Seq length (amino acids) |
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Kinase Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from KinaseFusionDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >Henst_Tenst_Hgene_Hchr_Hbp_Tgene_Tchr_Tbp_length(fusion AA)_AAseq |
Multiple Sequence Alignment of All Fusion Protein Isoforms |
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Kinase 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/:217364754/:212652884) - 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 |
| RPL37A | ERBB4 |
| FUNCTION: Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. {ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:32669547}. | FUNCTION: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis. {ECO:0000269|PubMed:10348342, ECO:0000269|PubMed:10353604, ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:10722704, ECO:0000269|PubMed:10867024, ECO:0000269|PubMed:11178955, ECO:0000269|PubMed:11390655, ECO:0000269|PubMed:12807903, ECO:0000269|PubMed:15534001, ECO:0000269|PubMed:15746097, ECO:0000269|PubMed:16251361, ECO:0000269|PubMed:16778220, ECO:0000269|PubMed:16837552, ECO:0000269|PubMed:17486069, ECO:0000269|PubMed:17638867, ECO:0000269|PubMed:19098003, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:8383326, ECO:0000269|PubMed:8617750, ECO:0000269|PubMed:9135143, ECO:0000269|PubMed:9168115, ECO:0000269|PubMed:9334263}. |
| 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 domain in the 5'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
| - Retained domain in the 3'-partner of fusion protein (protein functional feature from UniProt). |
| Partner | Hgeneene | Hbp | Tgeneene | Tbp | ENST | BPexon | TotalExon | Protein feature loci | BPloci | TotalLen | Feature | Note |
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Kinase-Substrate Information of RPL37A_ERBB4 |
| Phosphorylation target of the kinase (phosphosite, 03-17-2024) |
| Kinase | Kinase UniProt Acc | Kinase species | Substrate | Substrate UniProt Acc | Substrate phosphorylated residues | Substrate phosphorylated sites (+/-7AA) | Domain |
| ERBB4 | Q15303 | human | ERBB4 | Q15303 | Y1056 | GHsPPPAyTPMSGNQ | |
| ERBB4 | Q15303 | human | ERBB4 | Q15303 | Y1162 | RDKPKQEyLNPVEEN | |
| ERBB4 | Q15303 | human | ERBB4 | Q15303 | Y1284 | IVAENPEyLSEFSLK |
| Biological Network Integration of This Kinase and Substrates (GeneMANIA website) |
| Enriched GO biological processes of the phosphorylation target genes of the kinase |
| Kinase | GOID | GO term | P.adjust |
| ERBB4 | ID | Description | 0.00e+00 |
| ERBB4 | GO:0038130 | ERBB4 signaling pathway | 1.00e-02 |
| ERBB4 | GO:0043653 | mitochondrial fragmentation involved in apoptotic process | 1.00e-02 |
| ERBB4 | GO:0021889 | olfactory bulb interneuron differentiation | 1.00e-02 |
| ERBB4 | GO:0060644 | mammary gland epithelial cell differentiation | 1.00e-02 |
| ERBB4 | GO:0038128 | ERBB2 signaling pathway | 1.00e-02 |
| ERBB4 | GO:0060749 | mammary gland alveolus development | 1.00e-02 |
| ERBB4 | GO:0061377 | mammary gland lobule development | 1.00e-02 |
| ERBB4 | GO:2000010 | positive regulation of protein localization to cell surface | 1.00e-02 |
| ERBB4 | GO:0099633 | protein localization to postsynaptic specialization membrane | 1.00e-02 |
| ERBB4 | GO:0099645 | neurotransmitter receptor localization to postsynaptic specialization membrane | 1.00e-02 |
| ERBB4 | GO:0060045 | positive regulation of cardiac muscle cell proliferation | 1.00e-02 |
| ERBB4 | GO:0021772 | olfactory bulb development | 1.00e-02 |
| ERBB4 | GO:0055023 | positive regulation of cardiac muscle tissue growth | 1.00e-02 |
| ERBB4 | GO:0021988 | olfactory lobe development | 1.00e-02 |
| ERBB4 | GO:0060421 | positive regulation of heart growth | 1.00e-02 |
| ERBB4 | GO:0007595 | lactation | 1.00e-02 |
| ERBB4 | GO:0071364 | cellular response to epidermal growth factor stimulus | 1.00e-02 |
| ERBB4 | GO:2000008 | regulation of protein localization to cell surface | 1.00e-02 |
| ERBB4 | GO:1903539 | protein localization to postsynaptic membrane | 1.00e-02 |
| ERBB4 | GO:0062237 | protein localization to postsynapse | 1.00e-02 |
| ERBB4 | GO:0070849 | response to epidermal growth factor | 1.00e-02 |
| ERBB4 | GO:0060043 | regulation of cardiac muscle cell proliferation | 1.00e-02 |
| ERBB4 | GO:0046427 | positive regulation of receptor signaling pathway via JAK-STAT | 1.00e-02 |
| ERBB4 | GO:0046622 | positive regulation of organ growth | 1.00e-02 |
| ERBB4 | GO:1904894 | positive regulation of receptor signaling pathway via STAT | 1.00e-02 |
| ERBB4 | GO:0001755 | neural crest cell migration | 1.00e-02 |
| ERBB4 | GO:0060038 | cardiac muscle cell proliferation | 1.00e-02 |
| ERBB4 | GO:0090497 | mesenchymal cell migration | 1.00e-02 |
| ERBB4 | GO:0097120 | receptor localization to synapse | 1.00e-02 |
| ERBB4 | GO:0055021 | regulation of cardiac muscle tissue growth | 1.00e-02 |
| ERBB4 | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 1.00e-02 |
| ERBB4 | GO:0061180 | mammary gland epithelium development | 1.00e-02 |
| ERBB4 | GO:0034394 | protein localization to cell surface | 1.00e-02 |
| ERBB4 | GO:0001736 | establishment of planar polarity | 1.00e-02 |
| ERBB4 | GO:0007164 | establishment of tissue polarity | 1.00e-02 |
| ERBB4 | GO:0060420 | regulation of heart growth | 1.00e-02 |
| ERBB4 | GO:0009880 | embryonic pattern specification | 1.00e-02 |
| ERBB4 | GO:0042246 | tissue regeneration | 1.00e-02 |
| ERBB4 | GO:0035418 | protein localization to synapse | 1.00e-02 |
| ERBB4 | GO:0042509 | regulation of tyrosine phosphorylation of STAT protein | 1.00e-02 |
| ERBB4 | GO:0072028 | nephron morphogenesis | 1.00e-02 |
| ERBB4 | GO:0007260 | tyrosine phosphorylation of STAT protein | 1.00e-02 |
| ERBB4 | GO:0014032 | neural crest cell development | 1.00e-02 |
| ERBB4 | GO:0014855 | striated muscle cell proliferation | 1.00e-02 |
| ERBB4 | GO:0048864 | stem cell development | 1.00e-02 |
| ERBB4 | GO:0099072 | regulation of postsynaptic membrane neurotransmitter receptor levels | 1.00e-02 |
| ERBB4 | GO:0055017 | cardiac muscle tissue growth | 1.00e-02 |
| ERBB4 | GO:0007589 | body fluid secretion | 1.00e-02 |
| ERBB4 | GO:0001738 | morphogenesis of a polarized epithelium | 1.00e-02 |
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Related Drugs to RPL37A_ERBB4 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
| Distribution of the number of studies mentioning RPL37A-ERBB4 and kinase inhibitors the PubMed Abstract (04-01-2024) |
| Fusion gene - drug pair 1 | Fusion gene - drug pair 2 | PMID | Publication date | DOI | Study title |
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Related Diseases to RPL37A_ERBB4 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Related diseases from the literature mentioned this fusion gene and drug. (PubMed, 04-01-2024) |
| MeSH ID | MeSH term |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ERBB4 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Tgene | ERBB4 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Tgene | ERBB4 | C0004238 | Atrial Fibrillation | 2 | CTD_human |
| Tgene | ERBB4 | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human |
| Tgene | ERBB4 | C2585653 | Persistent atrial fibrillation | 2 | CTD_human |
| Tgene | ERBB4 | C3468561 | familial atrial fibrillation | 2 | CTD_human |
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Clinical Trials of the Found Drugs/Small Molecules |
| Statistics of the Clinical Trials of the Found Kinase Inibitors from clinicaltrials.gov (06-17-2024) |
| Clinical Trials from clinicaltrials.gov (06-17-2024) |
| Fusion Gene | Kinase Inhibitor | NCT ID | Study Status | Phases | Disease | # Enrolment | Date |
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