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Fusion gene ID: 11902 |
FusionGeneSummary for ERBB2_CDK12 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERBB2_CDK12 | Fusion gene ID: 11902 | Hgene | Tgene | Gene symbol | ERBB2 | CDK12 | Gene ID | 2064 | 51755 |
| Gene name | erb-b2 receptor tyrosine kinase 2 | cyclin dependent kinase 12 | |
| Synonyms | CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1 | CRK7|CRKR|CRKRS | |
| Cytomap | 17q12 | 17q12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | receptor tyrosine-protein kinase erbB-2c-erb B2/neu proteinherstatinhuman epidermal growth factor receptor 2metastatic lymph node gene 19 proteinneuro/glioblastoma derived oncogene homologneuroblastoma/glioblastoma derived oncogene homologp185erbB2 | cyclin-dependent kinase 12CDC2-related protein kinase 7Cdc2-related kinase, arginine/serine-richcell division cycle 2-related protein kinase 7cell division protein kinase 12 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P04626 | Q9NYV4 | |
| Ensembl transtripts involved in fusion gene | ENST00000584601, ENST00000406381, ENST00000541774, ENST00000445658, ENST00000540147, ENST00000584450, ENST00000269571, ENST00000578199, ENST00000540042, ENST00000584888, | ENST00000430627, ENST00000447079, ENST00000559545, | |
| Fusion gene scores | * DoF score | 27 X 20 X 14=7560 | 27 X 15 X 12=4860 |
| # samples | 46 | 31 | |
| ** MAII score | log2(46/7560*10)=-4.03868046816406 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(31/4860*10)=-3.97061619321891 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ERBB2 [Title/Abstract] AND CDK12 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * 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 | ERBB2 | GO:0007165 | signal transduction | 10572067 |
| Hgene | ERBB2 | GO:0007166 | cell surface receptor signaling pathway | 9685399 |
| Hgene | ERBB2 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 7514177 |
| Hgene | ERBB2 | GO:0014065 | phosphatidylinositol 3-kinase signaling | 7556068 |
| Hgene | ERBB2 | GO:0032886 | regulation of microtubule-based process | 20937854 |
| Hgene | ERBB2 | GO:0042060 | wound healing | 12646923 |
| Hgene | ERBB2 | GO:0043406 | positive regulation of MAP kinase activity | 10572067 |
| Hgene | ERBB2 | GO:0045785 | positive regulation of cell adhesion | 7556068 |
| Hgene | ERBB2 | GO:0045945 | positive regulation of transcription by RNA polymerase III | 19372587 |
| Hgene | ERBB2 | GO:0046777 | protein autophosphorylation | 7556068 |
| Hgene | ERBB2 | GO:0050679 | positive regulation of epithelial cell proliferation | 10572067 |
| Hgene | ERBB2 | GO:0071363 | cellular response to growth factor stimulus | 20010870 |
| Hgene | ERBB2 | GO:0090314 | positive regulation of protein targeting to membrane | 20010870 |
| Tgene | CDK12 | GO:0046777 | protein autophosphorylation | 11683387 |
| 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 | BRCA | TCGA-BH-A204-01A | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| * 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 | ENST00000584601 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000584601 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000584601 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000406381 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000406381 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000406381 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000541774 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000541774 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000541774 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000445658 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000445658 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000445658 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000540147 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000540147 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000540147 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000584450 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000584450 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000584450 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000269571 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000269571 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000269571 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000578199 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000578199 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000578199 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000540042 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| In-frame | ENST00000540042 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| 5CDS-intron | ENST00000540042 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| intron-3CDS | ENST00000584888 | ENST00000430627 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| intron-3CDS | ENST00000584888 | ENST00000447079 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
| intron-intron | ENST00000584888 | ENST00000559545 | ERBB2 | chr17 | 37868701 | + | CDK12 | chr17 | 37680927 | + |
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FusionProtFeatures for ERBB2_CDK12 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERBB2 | CDK12 |