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Fusion gene ID: 11943 |
FusionGeneSummary for ERBB4_CSDE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERBB4_CSDE1 | Fusion gene ID: 11943 | Hgene | Tgene | Gene symbol | ERBB4 | CSDE1 | Gene ID | 2066 | 7812 |
| Gene name | erb-b2 receptor tyrosine kinase 4 | cold shock domain containing E1 | |
| Synonyms | ALS19|HER4|p180erbB4 | D1S155E|UNR | |
| Cytomap | 2q34 | 1p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | receptor tyrosine-protein kinase erbB-4ERBB4 transcript variant I12DELERBB4 transcript variant I20DELavian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosin | cold shock domain-containing protein E1N-ras upstream gene proteinNRAS-relatedcold shock domain containing E1, RNA bindingupstream of NRAS | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q15303 | O75534 | |
| Ensembl transtripts involved in fusion gene | ENST00000436443, ENST00000342788, ENST00000402597, ENST00000484474, | ENST00000339438, ENST00000438362, ENST00000358528, ENST00000261443, ENST00000530886, ENST00000369530, ENST00000483407, ENST00000534699, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 7 X 7 X 3=147 |
| # samples | 6 | 8 | |
| ** MAII score | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ERBB4 [Title/Abstract] AND CSDE1 [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 | ERBB4 | GO:0007165 | signal transduction | 10572067 |
| Hgene | ERBB4 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 10353604|18334220 |
| Hgene | ERBB4 | GO:0016477 | cell migration | 9135143 |
| Hgene | ERBB4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 18334220 |
| Hgene | ERBB4 | GO:0046777 | protein autophosphorylation | 18334220 |
| 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 | CA440341 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| * 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-3CDS | ENST00000436443 | ENST00000339438 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000436443 | ENST00000438362 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000436443 | ENST00000358528 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000436443 | ENST00000261443 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000436443 | ENST00000530886 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000436443 | ENST00000369530 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000436443 | ENST00000483407 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000436443 | ENST00000534699 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000342788 | ENST00000339438 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000342788 | ENST00000438362 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000342788 | ENST00000358528 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000342788 | ENST00000261443 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000342788 | ENST00000530886 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000342788 | ENST00000369530 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000342788 | ENST00000483407 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000342788 | ENST00000534699 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000402597 | ENST00000339438 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000402597 | ENST00000438362 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000402597 | ENST00000358528 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000402597 | ENST00000261443 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000402597 | ENST00000530886 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000402597 | ENST00000369530 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000402597 | ENST00000483407 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000402597 | ENST00000534699 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000484474 | ENST00000339438 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000484474 | ENST00000438362 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000484474 | ENST00000358528 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000484474 | ENST00000261443 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000484474 | ENST00000530886 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-3CDS | ENST00000484474 | ENST00000369530 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000484474 | ENST00000483407 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
| intron-intron | ENST00000484474 | ENST00000534699 | ERBB4 | chr2 | 213144187 | - | CSDE1 | chr1 | 115275319 | - |
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FusionProtFeatures for ERBB4_CSDE1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERBB4 | CSDE1 |
| Tyrosine-protein kinase that plays an essential role ascell surface receptor for neuregulins and EGF family members andregulates development of the heart, the central nervous system andthe mammary gland, gene transcription, cell proliferation,differentiation, migration and apoptosis. Required for normalcardiac muscle differentiation during embryonic development, andfor postnatal cardiomyocyte proliferation. Required for normaldevelopment of the embryonic central nervous system, especiallyfor normal neural crest cell migration and normal axon guidance.Required for mammary gland differentiation, induction of milkproteins and lactation. Acts as cell-surface receptor for theneuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family membersBTC, EREG and HBEGF. Ligand binding triggers receptor dimerizationand autophosphorylation at specific tyrosine residues that thenserve as binding sites for scaffold proteins and effectors. Ligandspecificity and signaling is modulated by alternative splicing,proteolytic processing, and by the formation of heterodimers withother ERBB family members, thereby creating multiple combinationsof intracellular phosphotyrosines that trigger ligand- andcontext-specific cellular responses. Mediates phosphorylation ofSHC1 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 andAKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 andisoform JM-B CYT-1 mediate reorganization of the actincytoskeleton and promote cell migration in response to NRG1.Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosinethat mediates interaction with PIK3R1, and hence do notphosphorylate PIK3R1, do not protect cells against apoptosis, anddo not promote reorganization of the actin cytoskeleton and cellmigration. Proteolytic processing of isoform JM-A CYT-1 andisoform JM-A CYT-2 gives rise to the corresponding solubleintracellular domains (4ICD) that translocate to the nucleus,promote nuclear import of STAT5A, activation of STAT5A, mammaryepithelium differentiation, cell proliferation and activation ofgene expression. The ERBB4 soluble intracellular domains (4ICD)colocalize with STAT5A at the CSN2 promoter to regulatetranscription of milk proteins during lactation. The ERBB4 solubleintracellular domains can also translocate to mitochondria andpromote 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. |
| - 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 ERBB4_CSDE1 |
| 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 ERBB4_CSDE1 |
| 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 ERBB4_CSDE1 |
| 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 |
| Hgene | ERBB4 | Q15303 | DB08916 | Afatinib | Receptor tyrosine-protein kinase erbB-4 | small molecule | approved |
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RelatedDiseases for ERBB4_CSDE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ERBB4 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Hgene | ERBB4 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Hgene | ERBB4 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| Hgene | ERBB4 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | ERBB4 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| Hgene | ERBB4 | C3715155 | AMYOTROPHIC LATERAL SCLEROSIS 19 | 1 | UNIPROT |
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