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Fusion gene ID: 10154 |
FusionGeneSummary for DMPK_ERCC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DMPK_ERCC1 | Fusion gene ID: 10154 | Hgene | Tgene | Gene symbol | DMPK | ERCC1 | Gene ID | 1760 | 2067 |
| Gene name | DM1 protein kinase | ERCC excision repair 1, endonuclease non-catalytic subunit | |
| Synonyms | DM|DM1|DM1PK|DMK|MDPK|MT-PK | COFS4|RAD10|UV20 | |
| Cytomap | 19q13.32 | 19q13.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myotonin-protein kinaseDM protein kinasedystrophia myotonica protein kinasemyotonic dystrophy associated protein kinasemyotonin protein kinase Athymopoietin homolog | DNA excision repair protein ERCC-1excision repair cross-complementation group 1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q09013 | P07992 | |
| Ensembl transtripts involved in fusion gene | ENST00000291270, ENST00000600757, ENST00000343373, ENST00000447742, ENST00000458663, ENST00000354227, ENST00000595361, | ENST00000300853, ENST00000423698, ENST00000588738, ENST00000340192, ENST00000591636, ENST00000589165, ENST00000013807, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 5 X 3 X 4=60 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DMPK [Title/Abstract] AND ERCC1 [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 | DMPK | GO:0006468 | protein phosphorylation | 10913253|11287000 |
| Hgene | DMPK | GO:0008016 | regulation of heart contraction | 15598648 |
| Hgene | DMPK | GO:0010657 | muscle cell apoptotic process | 18729234 |
| Tgene | ERCC1 | GO:0006289 | nucleotide-excision repair | 3290851 |
| 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 | BF853752 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| * 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-intron | ENST00000291270 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000291270 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000291270 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000291270 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000291270 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000291270 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000291270 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000600757 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000343373 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000447742 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000458663 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000354227 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000300853 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000423698 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000588738 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000340192 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000591636 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000589165 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
| intron-intron | ENST00000595361 | ENST00000013807 | DMPK | chr19 | 46282628 | + | ERCC1 | chr19 | 45971838 | - |
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FusionProtFeatures for DMPK_ERCC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DMPK | ERCC1 |
| Non-receptor serine/threonine protein kinase which isnecessary for the maintenance of skeletal muscle structure andfunction. May play a role in myocyte differentiation and survivalby regulating the integrity of the nuclear envelope and theexpression of muscle-specific genes. May also phosphorylatePPP1R12A and inhibit the myosin phosphatase activity to regulatemyosin phosphorylation. Also critical to the modulation of cardiaccontractility and to the maintenance of proper cardiac conductionactivity probably through the regulation of cellular calciumhomeostasis. Phosphorylates PLN, a regulator of calcium pumps andmay regulate sarcoplasmic reticulum calcium uptake in myocytes.May also phosphorylate FXYD1/PLM which is able to induce chloridecurrents. May also play a role in synaptic plasticity.{ECO:0000269|PubMed:10811636, ECO:0000269|PubMed:10913253,ECO:0000269|PubMed:11287000, ECO:0000269|PubMed:15598648,ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949239}. | Isoform 1: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incisionduring DNA repair. Responsible, in conjunction with SLX4, for thefirst step in the repair of interstrand cross-links (ICL).Participates in the processing of anaphase bridge-generating DNAstructures, which consist in incompletely processed DNA lesionsarising during S or G2 phase, and can result in cytokinesisfailure. Also required for homology-directed repair (HDR) of DNAdouble-strand breaks, in conjunction with SLX4. |
| 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 DMPK_ERCC1 |
| 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 DMPK_ERCC1 |
| 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 DMPK_ERCC1 |
| 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 |
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RelatedDiseases for DMPK_ERCC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DMPK | C0027125 | Myotonia | 1 | CTD_human;HPO |
| Hgene | DMPK | C0027126 | Myotonic Dystrophy | 1 | CTD_human |
| Tgene | ERCC1 | C0007131 | Non-Small Cell Lung Carcinoma | 2 | CTD_human |
| Tgene | ERCC1 | C0001956 | alcohol use disorder | 1 | PSYGENET |
| Tgene | ERCC1 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Tgene | ERCC1 | C0008625 | Chromosome Aberrations | 1 | CTD_human |
| Tgene | ERCC1 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | ERCC1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | ERCC1 | C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | CTD_human |
| Tgene | ERCC1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Tgene | ERCC1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | ERCC1 | C0039590 | Testicular Neoplasms | 1 | CTD_human |
| Tgene | ERCC1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | ERCC1 | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Tgene | ERCC1 | C1853100 | CEREBROOCULOFACIOSKELETAL SYNDROME 4 | 1 | CTD_human;UNIPROT |
| Tgene | ERCC1 | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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