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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ERCC2-MYH14 (FusionGDB2 ID:27308) |
Fusion Gene Summary for ERCC2-MYH14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERCC2-MYH14 | Fusion gene ID: 27308 | Hgene | Tgene | Gene symbol | ERCC2 | MYH14 | Gene ID | 2068 | 79784 |
| Gene name | ERCC excision repair 2, TFIIH core complex helicase subunit | myosin heavy chain 14 | |
| Synonyms | COFS2|EM9|TFIIH|TTD|TTD1|XPD | DFNA4|DFNA4A|FP17425|MHC16|MYH17|NMHC II-C|NMHC-II-C|PNMHH|myosin | |
| Cytomap | 19q13.32 | 19q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | general transcription and DNA repair factor IIH helicase subunit XPDBTF2 p80CXPDDNA excision repair protein ERCC-2DNA repair protein complementing XP-D cellsTFIIH 80 kDa subunitTFIIH basal transcription factor complex 80 kDa subunitTFIIH basal tran | myosin-14MYH14 variant proteinmyosin heavy chain, non-muscle IIcmyosin, heavy chain 14, non-musclemyosin, heavy polypeptide 14non-muscle myosin heavy chain IIcnonmuscle myosin heavy chain II-C | |
| Modification date | 20200315 | 20200313 | |
| UniProtAcc | P18074 | Q7Z406 | |
| Ensembl transtripts involved in fusion gene | ENST00000391940, ENST00000391944, ENST00000391945, ENST00000485403, ENST00000221481, | ENST00000262269, ENST00000376970, ENST00000425460, ENST00000440075, ENST00000596571, ENST00000598205, ENST00000601313, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 20 X 23 X 10=4600 |
| # samples | 3 | 24 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(24/4600*10)=-4.26052755022322 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ERCC2 [Title/Abstract] AND MYH14 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ERCC2(45864782)-MYH14(50810306), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ERCC2-MYH14 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ERCC2-MYH14 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | ERCC2 | GO:0006283 | transcription-coupled nucleotide-excision repair | 8663148 |
| Hgene | ERCC2 | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| Hgene | ERCC2 | GO:0045893 | positive regulation of transcription, DNA-templated | 8692842 |
| Hgene | ERCC2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8692841 |
| Tgene | MYH14 | GO:0031032 | actomyosin structure organization | 24072716 |
| Fusion gene breakpoints across ERCC2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across MYH14 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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 | UCS | TCGA-N5-A4RV-01A | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
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Fusion Gene ORF analysis for ERCC2-MYH14 |
| 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 |
| Frame-shift | ENST00000391940 | ENST00000262269 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391940 | ENST00000376970 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391940 | ENST00000425460 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391940 | ENST00000440075 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391940 | ENST00000596571 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391940 | ENST00000598205 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391940 | ENST00000601313 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000262269 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000376970 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000425460 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000440075 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000596571 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000598205 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391944 | ENST00000601313 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000262269 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000376970 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000425460 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000440075 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000596571 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000598205 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000391945 | ENST00000601313 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000262269 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000376970 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000425460 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000440075 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000596571 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000598205 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| Frame-shift | ENST00000485403 | ENST00000601313 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000262269 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000376970 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000425460 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000440075 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000596571 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000598205 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| intron-3CDS | ENST00000221481 | ENST00000601313 | ERCC2 | chr19 | 45864782 | - | MYH14 | chr19 | 50810306 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| 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 |
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Fusion Genomic Features for ERCC2-MYH14 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| ERCC2 | chr19 | 45864781 | - | MYH14 | chr19 | 50810305 | + | 1.40E-08 | 1 |
| ERCC2 | chr19 | 45864781 | - | MYH14 | chr19 | 50810305 | + | 1.40E-08 | 1 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for ERCC2-MYH14 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:45864782/:50810306) - 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 |
| ERCC2 | MYH14 |
| FUNCTION: ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:15494306, ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:8413672}. | FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. {ECO:0000250}. |
| 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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Fusion Gene Sequence for ERCC2-MYH14 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for ERCC2-MYH14 |
| 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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Related Drugs for ERCC2-MYH14 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ERCC2-MYH14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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