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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:CHD2-MYH9 (FusionGDB2 ID:HG1106TG4627) |
Fusion Gene Summary for CHD2-MYH9 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CHD2-MYH9 | Fusion gene ID: hg1106tg4627 | Hgene | Tgene | Gene symbol | CHD2 | MYH9 | Gene ID | 1106 | 4627 |
Gene name | chromodomain helicase DNA binding protein 2 | myosin heavy chain 9 | |
Synonyms | EEOC | BDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA | |
Cytomap | ('CHD2')('MYH9') 15q26.1 | 22q12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | chromodomain-helicase-DNA-binding protein 2ATP-dependent helicase CHD2CHD-2 | myosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A | |
Modification date | 20200313 | 20200315 | |
UniProtAcc | O14647 | P35579 | |
Ensembl transtripts involved in fusion gene | ENST00000554122, ENST00000394196, ENST00000420239, ENST00000557381, ENST00000536619, | ||
Fusion gene scores | * DoF score | 22 X 13 X 11=3146 | 44 X 46 X 15=30360 |
# samples | 23 | 56 | |
** MAII score | log2(23/3146*10)=-3.77381290447131 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(56/30360*10)=-5.76060115335786 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CHD2 [Title/Abstract] AND MYH9 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CHD2(93444529)-MYH9(36701148), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CHD2-MYH9 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CHD2-MYH9 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CHD2-MYH9 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CHD2-MYH9 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 |
Tgene | MYH9 | GO:0001525 | angiogenesis | 16403913 |
Tgene | MYH9 | GO:0001778 | plasma membrane repair | 27325790 |
Tgene | MYH9 | GO:0006509 | membrane protein ectodomain proteolysis | 16186248 |
Tgene | MYH9 | GO:0030048 | actin filament-based movement | 12237319|15845534 |
Tgene | MYH9 | GO:0031032 | actomyosin structure organization | 24072716 |
Fusion gene breakpoints across CHD2 (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 MYH9 (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 * 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 | OV | TCGA-29-1688 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
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Fusion Gene ORF analysis for CHD2-MYH9 |
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 |
3UTR-3CDS | ENST00000554122 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
3UTR-intron | ENST00000554122 | ENST00000401701 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
3UTR-intron | ENST00000554122 | ENST00000475726 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
5CDS-intron | ENST00000394196 | ENST00000401701 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
5CDS-intron | ENST00000394196 | ENST00000475726 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
5CDS-intron | ENST00000420239 | ENST00000401701 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
5CDS-intron | ENST00000420239 | ENST00000475726 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
5CDS-intron | ENST00000557381 | ENST00000401701 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
5CDS-intron | ENST00000557381 | ENST00000475726 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
In-frame | ENST00000394196 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
In-frame | ENST00000420239 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
In-frame | ENST00000557381 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
intron-3CDS | ENST00000536619 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
intron-intron | ENST00000536619 | ENST00000401701 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
intron-intron | ENST00000536619 | ENST00000475726 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - |
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) |
ENST00000394196 | CHD2 | chr15 | 93444529 | + | ENST00000216181 | MYH9 | chr22 | 36701148 | - | 6241 | 1130 | 1068 | 4853 | 1261 |
ENST00000557381 | CHD2 | chr15 | 93444529 | + | ENST00000216181 | MYH9 | chr22 | 36701148 | - | 5880 | 769 | 707 | 4492 | 1261 |
ENST00000420239 | CHD2 | chr15 | 93444529 | + | ENST00000216181 | MYH9 | chr22 | 36701148 | - | 5734 | 623 | 561 | 4346 | 1261 |
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 |
ENST00000394196 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - | 0.019380016 | 0.98062 |
ENST00000557381 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - | 0.018819135 | 0.9811809 |
ENST00000420239 | ENST00000216181 | CHD2 | chr15 | 93444529 | + | MYH9 | chr22 | 36701148 | - | 0.019421393 | 0.98057866 |
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Fusion Genomic Features for CHD2-MYH9 |
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) |
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. |
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Fusion Protein Features for CHD2-MYH9 |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:93444529/chr22:36701148) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CHD2 | MYH9 |
FUNCTION: DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity). {ECO:0000250}. | FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Promotes also cell motility together with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411). {ECO:0000250|UniProtKB:Q8VDD5, ECO:0000269|PubMed:16707441, ECO:0000269|PubMed:20052411}. |
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 |
Tgene | MYH9 | chr15:93444529 | chr22:36701148 | ENST00000216181 | 16 | 41 | 837_1926 | 719 | 1961.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | MYH9 | chr15:93444529 | chr22:36701148 | ENST00000216181 | 16 | 41 | 779_808 | 719 | 1961.0 | Domain | IQ |
- 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 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 121_139 | 20 | 1829.0 | Compositional bias | Note=Ser-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 13_74 | 20 | 1829.0 | Compositional bias | Note=Ser-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 966_1066 | 20 | 1829.0 | Compositional bias | Note=Glu-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 121_139 | 20 | 502.0 | Compositional bias | Note=Ser-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 13_74 | 20 | 502.0 | Compositional bias | Note=Ser-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 966_1066 | 20 | 502.0 | Compositional bias | Note=Glu-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 121_139 | 20 | 1740.0 | Compositional bias | Note=Ser-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 13_74 | 20 | 1740.0 | Compositional bias | Note=Ser-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 966_1066 | 20 | 1740.0 | Compositional bias | Note=Glu-rich |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 261_353 | 20 | 1829.0 | Domain | Chromo 1 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 378_456 | 20 | 1829.0 | Domain | Chromo 2 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 496_666 | 20 | 1829.0 | Domain | Helicase ATP-binding |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 795_946 | 20 | 1829.0 | Domain | Helicase C-terminal |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 261_353 | 20 | 502.0 | Domain | Chromo 1 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 378_456 | 20 | 502.0 | Domain | Chromo 2 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 496_666 | 20 | 502.0 | Domain | Helicase ATP-binding |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 795_946 | 20 | 502.0 | Domain | Helicase C-terminal |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 261_353 | 20 | 1740.0 | Domain | Chromo 1 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 378_456 | 20 | 1740.0 | Domain | Chromo 2 |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 496_666 | 20 | 1740.0 | Domain | Helicase ATP-binding |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 795_946 | 20 | 1740.0 | Domain | Helicase C-terminal |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 617_620 | 20 | 1829.0 | Motif | Note=DEAH box |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 617_620 | 20 | 502.0 | Motif | Note=DEAH box |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 617_620 | 20 | 1740.0 | Motif | Note=DEAH box |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000394196 | + | 2 | 39 | 509_516 | 20 | 1829.0 | Nucleotide binding | ATP |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000420239 | + | 2 | 13 | 509_516 | 20 | 502.0 | Nucleotide binding | ATP |
Hgene | CHD2 | chr15:93444529 | chr22:36701148 | ENST00000557381 | + | 2 | 38 | 509_516 | 20 | 1740.0 | Nucleotide binding | ATP |
Tgene | MYH9 | chr15:93444529 | chr22:36701148 | ENST00000216181 | 16 | 41 | 27_77 | 719 | 1961.0 | Domain | Myosin N-terminal SH3-like | |
Tgene | MYH9 | chr15:93444529 | chr22:36701148 | ENST00000216181 | 16 | 41 | 81_776 | 719 | 1961.0 | Domain | Myosin motor | |
Tgene | MYH9 | chr15:93444529 | chr22:36701148 | ENST00000216181 | 16 | 41 | 174_181 | 719 | 1961.0 | Nucleotide binding | ATP | |
Tgene | MYH9 | chr15:93444529 | chr22:36701148 | ENST00000216181 | 16 | 41 | 654_676 | 719 | 1961.0 | Region | Note=Actin-binding |
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Fusion Gene Sequence for CHD2-MYH9 |
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. |
>16303_16303_1_CHD2-MYH9_CHD2_chr15_93444529_ENST00000394196_MYH9_chr22_36701148_ENST00000216181_length(transcript)=6241nt_BP=1130nt TAAAGAAGGAAAAACTTGAATTTATATTATGAAATTAAGGTTTTACTTTTATTTAGCAATCATTTCACCCATTGGGGGATTAATTTTTAA AAAGATTAGTACTTAGCTGAGCTTTAGATTCTCTAAGAATTATCCCTTTTTCAAAATGGCTTGATAAAACACCACTTCCTGTCCAGGGAG GAAGTTATTTTAGCTCAAGGACTGAAATATTTAGCAGATCTTTAGACAAAAGGAACAAATTACATTTCTCTCTGGCTTAAAAAGGGTGCT TGAGCCAGAGGGGGTTAAGAAGCCCTCCCCCCTCCCCCTGTTGGGGTGGTCTGGAGGGGCAGGGAGGTGTGGGGGTGGGGGTCCTTAGGC TCCCTGGGATGGAGGATCTGTCTCTCTCTCTCTCTCTCCTTTTTTTTTTTTTGGTGGAGATGAAGGGGTGGGTCTATGGTACATCACCTG AGTTGTGGGGTAAATGTAGAGAGTGTCAATCAAAGGCAGAGCTCTCAGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAG AGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTT TCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAG CAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTT TTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTT TTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACAT GGATCAGTAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAAT AAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAGATATGAGATCCTGACTCCAAACTCCATTCCCAAGGGTTTC ATGGACGGGAAGCAGGCGTGCGTGCTCATGATAAAAGCCCTGGAGCTCGACAGCAATCTGTACCGCATTGGCCAGAGCAAAGTCTTCTTC CGTGCCGGTGTGCTGGCCCACCTGGAGGAGGAGCGAGACCTGAAGATCACCGACGTCATCATAGGGTTCCAGGCCTGCTGCAGGGGCTAC CTGGCCAGGAAAGCATTTGCCAAGCGGCAGCAGCAGCTTACCGCCATGAAGGTCCTCCAGCGGAACTGCGCTGCCTACCTGAAGCTGCGG AACTGGCAGTGGTGGCGGCTCTTCACCAAGGTCAAGCCGCTGCTGCAGGTGAGCCGGCAGGAGGAGGAGATGATGGCCAAGGAGGAGGAG CTGGTGAAGGTCAGAGAGAAGCAGCTGGCTGCGGAGAACAGGCTCACGGAGATGGAGACGCTGCAGTCTCAGCTCATGGCAGAGAAATTG CAGCTGCAGGAGCAGCTCCAGGCAGAAACCGAGCTGTGTGCCGAGGCTGAGGAGCTCCGGGCCCGCCTGACCGCCAAGAAGCAGGAATTA GAAGAGATCTGCCATGACCTAGAGGCCAGGGTGGAGGAGGAGGAGGAGCGCTGCCAGCACCTGCAGGCGGAGAAGAAGAAGATGCAGCAG AACATCCAGGAGCTTGAGGAGCAGCTGGAGGAGGAGGAGAGCGCCCGGCAGAAGCTGCAGCTGGAGAAGGTGACCACCGAGGCGAAGCTG AAAAAGCTGGAGGAGGAGCAGATCATCCTGGAGGACCAGAACTGCAAGCTGGCCAAGGAAAAGAAACTGCTGGAAGACAGAATAGCTGAG TTCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAA GAGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAG ATCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAA GAGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAG CGTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGAT TCCACAGCTGCCCAGCAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCAC GAGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCA AACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCG GAGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGAC AAGGTCACCAAGCTGCAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTC TCCGCGCTGGAGTCCCAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAG GTGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCAT GCCCAGGTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGAC CTGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGAC GACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAG AAGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGG GCCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAG GATGATGTGGGCAAGAGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAG CTGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTG CAGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAG CAGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGG GACGAAGCCATCAAACAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAG ATCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAG CGTGCCAAGCGCCAGGCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAG AAGCGGCGTCTGGAGGCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAG AAGGCCAACCTGCAGATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTG GAACGCCAGAACAAGGAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAG GCCAAGATTGCACAGCTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAG CTGAAGGATGTGCTGCTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAG CAGCTCAAGCGGCAGCTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCC ACTGAGACGGCCGATGCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGA ATGGCCCGGAAAGGCGCCGGGGATGGCTCCGACGAAGAGGTAGATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCCGAATAAGCCTCT TCTCCTGCAGCCTGAGATGGATGGACAGACAGACACCACAGCCTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCACCTTCTTGGGAC TGCTGTGAACATGCCTCCTCCTGCCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCT GCATCCCCTTCCAGCTCCCTCCCCTGCTCAGAATCTGATACCAAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTC AGCCCTCTCTTGCCAAAAAGCACAAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGAATCTATTTTTCT TCAGACTGAGGCCTTTTGGTAGTCGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCCTCCTCCTTTCTT TGCTGTTTGCAATCACACGTGGTGACCTCACACACCTCTGCCCCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGG CCCTGGGCCTCCACCTCTGTGCAGGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAGGCAGCGCCACTG TCCGCTGTCTCCCTCCTGATTCTAAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTCTGCCACAGCAAG GCTGTCGGGGTCAAGCTGGAAAGGCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTCTTGGGGACCAAATATATTTAATGGTTAAGGGAC TTGTCCCAAGTCTGACAGCCAGAGCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGGGCCCGAGGGTGG TTTACCTGCACCGTTGACTCAGTATAGTTTAAAAATCTGCCACCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCT TTCTTGTAATAAATGATAAAATTCCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCTACACTGGTTGCC GAATTTACTTGTATTCCTAACTGTTTTGTATATGCTGCATTGAGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAGGAAACAAACTCT CAAATCATGAAGTGATATAAAAGCTGCATATGCCTACAAAGCTCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGTGAGTGAAACTCC CACCCTACCCCCTTTTTTATATAATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCACCACTACAGTAAGCTGGTTTACAGATGTTTTCCA >16303_16303_1_CHD2-MYH9_CHD2_chr15_93444529_ENST00000394196_MYH9_chr22_36701148_ENST00000216181_length(amino acids)=1261AA_BP=20 MMRNKDKSQEEDSSLHSNASRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQAC CRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLM AEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTT EAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTD LSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELE DTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQG KGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLST KLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ QELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDL MSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELE DERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEEL AAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENA RQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKAS TRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPA -------------------------------------------------------------- >16303_16303_2_CHD2-MYH9_CHD2_chr15_93444529_ENST00000420239_MYH9_chr22_36701148_ENST00000216181_length(transcript)=5734nt_BP=623nt GGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGAGCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGG CAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTTCCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTA GGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGCAGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACC TCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTTTTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACA TATTTGAGGGTTATTTTATTTATTTTTCGTTTTTTAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTA GTAGATAGGACTCTTGGTTTGGACATACTACATGGATCAGTAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCC TTAATATTTAAGAATTAAAAGATGATGAGAAATAAGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAGATATGAG ATCCTGACTCCAAACTCCATTCCCAAGGGTTTCATGGACGGGAAGCAGGCGTGCGTGCTCATGATAAAAGCCCTGGAGCTCGACAGCAAT CTGTACCGCATTGGCCAGAGCAAAGTCTTCTTCCGTGCCGGTGTGCTGGCCCACCTGGAGGAGGAGCGAGACCTGAAGATCACCGACGTC ATCATAGGGTTCCAGGCCTGCTGCAGGGGCTACCTGGCCAGGAAAGCATTTGCCAAGCGGCAGCAGCAGCTTACCGCCATGAAGGTCCTC CAGCGGAACTGCGCTGCCTACCTGAAGCTGCGGAACTGGCAGTGGTGGCGGCTCTTCACCAAGGTCAAGCCGCTGCTGCAGGTGAGCCGG CAGGAGGAGGAGATGATGGCCAAGGAGGAGGAGCTGGTGAAGGTCAGAGAGAAGCAGCTGGCTGCGGAGAACAGGCTCACGGAGATGGAG ACGCTGCAGTCTCAGCTCATGGCAGAGAAATTGCAGCTGCAGGAGCAGCTCCAGGCAGAAACCGAGCTGTGTGCCGAGGCTGAGGAGCTC CGGGCCCGCCTGACCGCCAAGAAGCAGGAATTAGAAGAGATCTGCCATGACCTAGAGGCCAGGGTGGAGGAGGAGGAGGAGCGCTGCCAG CACCTGCAGGCGGAGAAGAAGAAGATGCAGCAGAACATCCAGGAGCTTGAGGAGCAGCTGGAGGAGGAGGAGAGCGCCCGGCAGAAGCTG CAGCTGGAGAAGGTGACCACCGAGGCGAAGCTGAAAAAGCTGGAGGAGGAGCAGATCATCCTGGAGGACCAGAACTGCAAGCTGGCCAAG GAAAAGAAACTGCTGGAAGACAGAATAGCTGAGTTCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAG AACAAGCATGAGGCAATGATCACTGACTTGGAAGAGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAG CTGGAGGGAGACTCCACAGACCTCAGCGACCAGATCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAG GAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAGAGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAG ATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGCGTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAG GCTCTGAAAACAGAGTTGGAGGACACGCTGGATTCCACAGCTGCCCAGCAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTG AAGAAGACCCTGGAGGAGGAGGCCAAGACCCACGAGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCG GAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAAACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAG GTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGGAGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAAC GAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACAAGGTCACCAAGCTGCAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCC GACAGCAAGTCCAGCAAGCTCACCAAGGACTTCTCCGCGCTGGAGTCCCAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGG CAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGGTGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAG CACAACCTGGAGAAGCAGATCGCCACCCTCCATGCCCAGGTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACT GCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACCTGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAG AAGACCAAGACGCGGCTGCAGCAGGAGCTGGACGACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAG CAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGAAGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGA GAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGGCCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTC CGCACGGAGATGGAGGACCTTATGAGCTCCAAGGATGATGTGGGCAAGAGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAG CAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGCTGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTG CAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGCAGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGG GAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGCAGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTG GAGGCGCACATCGACTCGGCCAACAAGAACCGGGACGAAGCCATCAAACAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGC GAGCTGGATGACACCCGCGCCTCTCGTGAGGAGATCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATG ATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGCGTGCCAAGCGCCAGGCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAAC AGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGAAGCGGCGTCTGGAGGCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAG GGCAACACGGAGCTGATCAACGACCGGCTGAAGAAGGCCAACCTGCAGATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCAC GCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGGAACGCCAGAACAAGGAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAG TCCAAGTACAAGGCCTCCATCACCGCCCTCGAGGCCAAGATTGCACAGCTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCA GCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGCTGAAGGATGTGCTGCTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAG GACCAGGCCGACAAGGCATCTACCCGCCTGAAGCAGCTCAAGCGGCAGCTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCC CGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCACTGAGACGGCCGATGCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGG CGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAATGGCCCGGAAAGGCGCCGGGGATGGCTCCGACGAAGAGGTAGATGGCAAAGCGGAT GGGGCTGAGGCCAAACCTGCCGAATAAGCCTCTTCTCCTGCAGCCTGAGATGGATGGACAGACAGACACCACAGCCTCCCCTTCCCAGAC CCCGCAGCACGCCTCTCCCCACCTTCTTGGGACTGCTGTGAACATGCCTCCTCCTGCCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCC AGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCTGCATCCCCTTCCAGCTCCCTCCCCTGCTCAGAATCTGATACCAAAGAGACAGGGCCC GGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTCAGCCCTCTCTTGCCAAAAAGCACAAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGG AGGGGCCAGAGTTTTCTATGAATCTATTTTTCTTCAGACTGAGGCCTTTTGGTAGTCGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTC TGCCACCAGCGCCCCCACTCCTCCTCCTTTCTTTGCTGTTTGCAATCACACGTGGTGACCTCACACACCTCTGCCCCTTGGGCCTCCCAC TCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGGCCCTGGGCCTCCACCTCTGTGCAGGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGA TTCCTCCCCACCCTGTCCCAGGCAGCGCCACTGTCCGCTGTCTCCCTCCTGATTCTAAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCT TTACCGAGGACAGCCTGCCTCTGCCACAGCAAGGCTGTCGGGGTCAAGCTGGAAAGGCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTC TTGGGGACCAAATATATTTAATGGTTAAGGGACTTGTCCCAAGTCTGACAGCCAGAGCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATC TTGTGTCTACTCTAGGACTGGGCCCGAGGGTGGTTTACCTGCACCGTTGACTCAGTATAGTTTAAAAATCTGCCACCTGCACAGGTATTT TTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCTTTCTTGTAATAAATGATAAAATTCCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGA GTAGCTCGTCCTCACTGGTCTACACTGGTTGCCGAATTTACTTGTATTCCTAACTGTTTTGTATATGCTGCATTGAGACTTACGGCAAGA AGGCATTTTTTTTTTTTAAAGGAAACAAACTCTCAAATCATGAAGTGATATAAAAGCTGCATATGCCTACAAAGCTCTGAATTCAGGTCC CAGTTGCTGTCACAAAGGAGTGAGTGAAACTCCCACCCTACCCCCTTTTTTATATAATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCAC >16303_16303_2_CHD2-MYH9_CHD2_chr15_93444529_ENST00000420239_MYH9_chr22_36701148_ENST00000216181_length(amino acids)=1261AA_BP=20 MMRNKDKSQEEDSSLHSNASRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQAC CRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLM AEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTT EAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTD LSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELE DTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQG KGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLST KLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ QELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDL MSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELE DERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEEL AAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENA RQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKAS TRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPA -------------------------------------------------------------- >16303_16303_3_CHD2-MYH9_CHD2_chr15_93444529_ENST00000557381_MYH9_chr22_36701148_ENST00000216181_length(transcript)=5880nt_BP=769nt CCCTGGGATGGAGGATCTGTCTCTCTCTCTCTCTCTCCTTTTTTTTTTTTTGGTGGAGATGAAGGGGTGGGTCTATGGTACATCACCTGA GTTGTGGGGTAAATGTAGAGAGTGTCAATCAAAGGCAGAGCTCTCAGAGCTGGGAAGGAGGCTCTAGATGGCGGCTGTGCCTTAGAGAGA GCGCGCTCTGCTCCCTGCCTTTGCCTCACTTTACGCAACTTTCCCTAACTTTCGGGCAGCCTCAGGGGGCCCCCGTAGCCCCCTGCCTTT CCTAGGGACTTACTGGGGTCGATTCGAACCTTTTTTTGGGAGAAAAGCAGCTTTTAGGAGCTTTCTTTTCGTGCCTTGTTGGAAAGAAGC AGCCGTACTGAGAGCCCAGGTCGTTGTTTTTTCCAGCTTAGAAGCCATGGCGCACCTCCATTTTTGTGCGCTCTCCTAATGAGGTTTTTT TTCTTTCGGACCTGTTTTAGTATTAATTATTGCTTTATTTTTTTGACCAGTTAACATATTTGAGGGTTATTTTATTTATTTTTCGTTTTT TAACGGAGGATTTTGCCTTTATTTTTAATTATTTGGGATCTGATATTTTTCTACTAGTAGATAGGACTCTTGGTTTGGACATACTACATG GATCAGTAAATACCTGGGCACAGGACTTCAAAGCAAACACAGATTCCCCCTCCCCCTTAATATTTAAGAATTAAAAGATGATGAGAAATA AGGACAAAAGCCAAGAGGAGGACAGTTCGCTACACAGCAATGCATCGAGATATGAGATCCTGACTCCAAACTCCATTCCCAAGGGTTTCA TGGACGGGAAGCAGGCGTGCGTGCTCATGATAAAAGCCCTGGAGCTCGACAGCAATCTGTACCGCATTGGCCAGAGCAAAGTCTTCTTCC GTGCCGGTGTGCTGGCCCACCTGGAGGAGGAGCGAGACCTGAAGATCACCGACGTCATCATAGGGTTCCAGGCCTGCTGCAGGGGCTACC TGGCCAGGAAAGCATTTGCCAAGCGGCAGCAGCAGCTTACCGCCATGAAGGTCCTCCAGCGGAACTGCGCTGCCTACCTGAAGCTGCGGA ACTGGCAGTGGTGGCGGCTCTTCACCAAGGTCAAGCCGCTGCTGCAGGTGAGCCGGCAGGAGGAGGAGATGATGGCCAAGGAGGAGGAGC TGGTGAAGGTCAGAGAGAAGCAGCTGGCTGCGGAGAACAGGCTCACGGAGATGGAGACGCTGCAGTCTCAGCTCATGGCAGAGAAATTGC AGCTGCAGGAGCAGCTCCAGGCAGAAACCGAGCTGTGTGCCGAGGCTGAGGAGCTCCGGGCCCGCCTGACCGCCAAGAAGCAGGAATTAG AAGAGATCTGCCATGACCTAGAGGCCAGGGTGGAGGAGGAGGAGGAGCGCTGCCAGCACCTGCAGGCGGAGAAGAAGAAGATGCAGCAGA ACATCCAGGAGCTTGAGGAGCAGCTGGAGGAGGAGGAGAGCGCCCGGCAGAAGCTGCAGCTGGAGAAGGTGACCACCGAGGCGAAGCTGA AAAAGCTGGAGGAGGAGCAGATCATCCTGGAGGACCAGAACTGCAAGCTGGCCAAGGAAAAGAAACTGCTGGAAGACAGAATAGCTGAGT TCACCACCAACCTCACAGAAGAGGAGGAGAAATCTAAGAGCCTCGCCAAGCTCAAGAACAAGCATGAGGCAATGATCACTGACTTGGAAG AGCGCCTCCGCAGGGAGGAGAAGCAGCGACAGGAGCTGGAGAAGACCCGCCGGAAGCTGGAGGGAGACTCCACAGACCTCAGCGACCAGA TCGCCGAGCTCCAGGCCCAGATCGCGGAGCTCAAGATGCAGCTGGCCAAGAAAGAGGAGGAGCTCCAGGCCGCCCTGGCCAGAGTGGAAG AGGAAGCTGCCCAGAAGAACATGGCCCTCAAGAAGATCCGGGAGCTGGAATCTCAGATCTCTGAACTCCAGGAAGACCTGGAGTCTGAGC GTGCTTCCAGGAATAAAGCTGAGAAGCAGAAACGGGACCTTGGGGAAGAGCTAGAGGCTCTGAAAACAGAGTTGGAGGACACGCTGGATT CCACAGCTGCCCAGCAGGAGCTCAGGTCAAAACGTGAGCAGGAGGTGAACATCCTGAAGAAGACCCTGGAGGAGGAGGCCAAGACCCACG AGGCCCAGATCCAGGAGATGAGGCAGAAGCACTCACAGGCCGTGGAGGAGCTGGCGGAGCAGCTGGAGCAGACGAAGCGGGTGAAAGCAA ACCTCGAGAAGGCAAAGCAGACTCTGGAGAACGAGCGGGGGGAGCTGGCCAACGAGGTGAAGGTGCTGCTGCAGGGCAAAGGGGACTCGG AGCACAAGCGCAAGAAAGTGGAGGCGCAGCTGCAGGAGCTGCAGGTCAAGTTCAACGAGGGAGAGCGCGTGCGCACAGAGCTGGCCGACA AGGTCACCAAGCTGCAGGTGGAGCTGGACAACGTGACCGGGCTTCTCAGCCAGTCCGACAGCAAGTCCAGCAAGCTCACCAAGGACTTCT CCGCGCTGGAGTCCCAGCTGCAGGACACTCAGGAGCTGCTGCAGGAGGAGAACCGGCAGAAGCTGAGCCTGAGCACCAAGCTCAAGCAGG TGGAGGACGAGAAGAATTCCTTCCGGGAGCAGCTGGAGGAGGAGGAGGAGGCCAAGCACAACCTGGAGAAGCAGATCGCCACCCTCCATG CCCAGGTGGCCGACATGAAAAAGAAGATGGAGGACAGTGTGGGGTGCCTGGAAACTGCTGAGGAGGTGAAGAGGAAGCTCCAGAAGGACC TGGAGGGCCTGAGCCAGCGGCACGAGGAGAAGGTGGCCGCCTACGACAAGCTGGAGAAGACCAAGACGCGGCTGCAGCAGGAGCTGGACG ACCTGCTGGTGGACCTGGACCACCAGCGCCAGAGCGCGTGCAACCTGGAGAAGAAGCAGAAGAAGTTTGACCAGCTCCTGGCGGAGGAGA AGACCATCTCTGCCAAGTATGCAGAGGAGCGCGACCGGGCTGAGGCGGAGGCCCGAGAGAAGGAGACCAAGGCTCTGTCGCTGGCCCGGG CCCTGGAGGAAGCCATGGAGCAGAAGGCGGAGCTGGAGCGGCTCAACAAGCAGTTCCGCACGGAGATGGAGGACCTTATGAGCTCCAAGG ATGATGTGGGCAAGAGTGTCCACGAGCTGGAGAAGTCCAAGCGGGCCCTAGAGCAGCAGGTGGAGGAGATGAAGACGCAGCTGGAAGAGC TGGAGGACGAGCTGCAGGCCACCGAAGATGCCAAGCTGCGGTTGGAGGTCAACCTGCAGGCCATGAAGGCCCAGTTCGAGCGGGACCTGC AGGGCCGGGACGAGCAGAGCGAGGAGAAGAAGAAGCAGCTGGTCAGACAGGTGCGGGAGATGGAGGCAGAGCTGGAGGACGAGAGGAAGC AGCGCTCGATGGCAGTGGCCGCCCGGAAGAAGCTGGAGATGGACCTGAAGGACCTGGAGGCGCACATCGACTCGGCCAACAAGAACCGGG ACGAAGCCATCAAACAGCTGCGGAAGCTGCAGGCCCAGATGAAGGACTGCATGCGCGAGCTGGATGACACCCGCGCCTCTCGTGAGGAGA TCCTGGCCCAGGCCAAAGAGAACGAGAAGAAGCTGAAGAGCATGGAGGCCGAGATGATCCAGTTGCAGGAGGAACTGGCAGCCGCGGAGC GTGCCAAGCGCCAGGCCCAGCAGGAGCGGGATGAGCTGGCTGACGAGATCGCCAACAGCAGCGGCAAAGGAGCCCTGGCGTTAGAGGAGA AGCGGCGTCTGGAGGCCCGCATCGCCCAGCTGGAGGAGGAGCTGGAGGAGGAGCAGGGCAACACGGAGCTGATCAACGACCGGCTGAAGA AGGCCAACCTGCAGATCGACCAGATCAACACCGACCTGAACCTGGAGCGCAGCCACGCCCAGAAGAACGAGAATGCTCGGCAGCAGCTGG AACGCCAGAACAAGGAGCTTAAGGTCAAGCTGCAGGAGATGGAGGGCACTGTCAAGTCCAAGTACAAGGCCTCCATCACCGCCCTCGAGG CCAAGATTGCACAGCTGGAGGAGCAGCTGGACAACGAGACCAAGGAGCGCCAGGCAGCCTGCAAACAGGTGCGTCGGACCGAGAAGAAGC TGAAGGATGTGCTGCTGCAGGTGGATGACGAGCGGAGGAACGCCGAGCAGTACAAGGACCAGGCCGACAAGGCATCTACCCGCCTGAAGC AGCTCAAGCGGCAGCTGGAGGAGGCCGAAGAGGAGGCCCAGCGGGCCAACGCCTCCCGCCGGAAACTGCAGCGCGAGCTGGAGGACGCCA CTGAGACGGCCGATGCCATGAACCGCGAAGTCAGCTCCCTAAAGAACAAGCTCAGGCGCGGGGACCTGCCGTTTGTCGTGCCCCGCCGAA TGGCCCGGAAAGGCGCCGGGGATGGCTCCGACGAAGAGGTAGATGGCAAAGCGGATGGGGCTGAGGCCAAACCTGCCGAATAAGCCTCTT CTCCTGCAGCCTGAGATGGATGGACAGACAGACACCACAGCCTCCCCTTCCCAGACCCCGCAGCACGCCTCTCCCCACCTTCTTGGGACT GCTGTGAACATGCCTCCTCCTGCCCTCCGCCCCGTCCCCCCATCCCGTTTCCCTCCAGGTGTTGTTGAGGGCATTTGGCTTCCTCTGCTG CATCCCCTTCCAGCTCCCTCCCCTGCTCAGAATCTGATACCAAAGAGACAGGGCCCGGGCCCAGGCAGAGAGCGACCAGCAGGCTCCTCA GCCCTCTCTTGCCAAAAAGCACAAGATGTTGAGGCGAGCAGGGCAGGCCCCCGGGGAGGGGCCAGAGTTTTCTATGAATCTATTTTTCTT CAGACTGAGGCCTTTTGGTAGTCGGAGCCCCCGCAGTCGTCAGCCTCCCTGACGTCTGCCACCAGCGCCCCCACTCCTCCTCCTTTCTTT GCTGTTTGCAATCACACGTGGTGACCTCACACACCTCTGCCCCTTGGGCCTCCCACTCCCATGGCTCTGGGCGGTCCAGAAGGAGCAGGC CCTGGGCCTCCACCTCTGTGCAGGGCACAGAAGGCTGGGGTGGGGGGAGGAGTGGATTCCTCCCCACCCTGTCCCAGGCAGCGCCACTGT CCGCTGTCTCCCTCCTGATTCTAAAATGTCTCAAGTGCAATGCCCCCTCCCCTCCTTTACCGAGGACAGCCTGCCTCTGCCACAGCAAGG CTGTCGGGGTCAAGCTGGAAAGGCCAGCAGCCTTCCAGTGGCTTCTCCCAACACTCTTGGGGACCAAATATATTTAATGGTTAAGGGACT TGTCCCAAGTCTGACAGCCAGAGCGTTAGAGGGGCCAGCGGCCCTCCCAGGCGATCTTGTGTCTACTCTAGGACTGGGCCCGAGGGTGGT TTACCTGCACCGTTGACTCAGTATAGTTTAAAAATCTGCCACCTGCACAGGTATTTTTGAAAGCAAAATAAGGTTTTCTTTTTTCCCCTT TCTTGTAATAAATGATAAAATTCCGAGTCTTTCTCACTGCCTTTGTTTAGAAGAGAGTAGCTCGTCCTCACTGGTCTACACTGGTTGCCG AATTTACTTGTATTCCTAACTGTTTTGTATATGCTGCATTGAGACTTACGGCAAGAAGGCATTTTTTTTTTTTAAAGGAAACAAACTCTC AAATCATGAAGTGATATAAAAGCTGCATATGCCTACAAAGCTCTGAATTCAGGTCCCAGTTGCTGTCACAAAGGAGTGAGTGAAACTCCC ACCCTACCCCCTTTTTTATATAATAAAAGTGCCTTAGCATGTGTTGCAGCTGTCACCACTACAGTAAGCTGGTTTACAGATGTTTTCCAC >16303_16303_3_CHD2-MYH9_CHD2_chr15_93444529_ENST00000557381_MYH9_chr22_36701148_ENST00000216181_length(amino acids)=1261AA_BP=20 MMRNKDKSQEEDSSLHSNASRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQAC CRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLM AEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTT EAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTD LSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELE DTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQG KGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLST KLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ QELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDL MSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELE DERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEEL AAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENA RQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKAS TRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPA -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CHD2-MYH9 |
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 CHD2-MYH9 |
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 CHD2-MYH9 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHD2 | C0014544 | Epilepsy | 2 | CTD_human |
Hgene | CHD2 | C0086237 | Epilepsy, Cryptogenic | 2 | CTD_human |
Hgene | CHD2 | C0236018 | Aura | 2 | CTD_human |
Hgene | CHD2 | C0751111 | Awakening Epilepsy | 2 | CTD_human |
Hgene | CHD2 | C3809278 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | 2 | GENOMICS_ENGLAND;UNIPROT |
Hgene | CHD2 | C0040517 | Gilles de la Tourette syndrome | 1 | GENOMICS_ENGLAND |
Hgene | CHD2 | C0238111 | Lennox-Gastaut syndrome | 1 | ORPHANET |
Hgene | CHD2 | C0393702 | Myoclonic Astatic Epilepsy | 1 | ORPHANET |
Hgene | CHD2 | C0543888 | Epileptic encephalopathy | 1 | GENOMICS_ENGLAND |
Hgene | CHD2 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
Hgene | CHD2 | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Tgene | C0340978 | May-Hegglin anomaly | 25 | CLINGEN;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1854520 | SEBASTIAN SYNDROME | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0398641 | Epstein syndrome (disorder) | 11 | CLINGEN | |
Tgene | C0403445 | Fechtner syndrome (disorder) | 11 | CLINGEN | |
Tgene | C0477317 | Other primary thrombocytopenia | 11 | CLINGEN | |
Tgene | C1842035 | Giant Platelet Syndrome with Thrombocytopenia | 11 | CLINGEN | |
Tgene | C1863659 | DEAFNESS, AUTOSOMAL DOMINANT 17 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0022661 | Kidney Failure, Chronic | 2 | CTD_human | |
Tgene | C0006142 | Malignant neoplasm of breast | 1 | CTD_human;UNIPROT | |
Tgene | C0017668 | Focal glomerulosclerosis | 1 | CTD_human | |
Tgene | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | GENOMICS_ENGLAND | |
Tgene | C0018965 | Hematuria | 1 | GENOMICS_ENGLAND | |
Tgene | C0020544 | Renal hypertension | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0027706 | Hereditary nephritis | 1 | CTD_human | |
Tgene | C0033687 | Proteinuria | 1 | GENOMICS_ENGLAND | |
Tgene | C0035078 | Kidney Failure | 1 | GENOMICS_ENGLAND | |
Tgene | C0086432 | Hyalinosis, Segmental Glomerular | 1 | CTD_human | |
Tgene | C0086543 | Cataract | 1 | GENOMICS_ENGLAND | |
Tgene | C0206692 | Carcinoma, Lobular | 1 | CTD_human | |
Tgene | C0410005 | Nodular fasciitis | 1 | ORPHANET | |
Tgene | C0678222 | Breast Carcinoma | 1 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 1 | CTD_human | |
Tgene | C1567741 | Alport Syndrome | 1 | CTD_human | |
Tgene | C1567742 | Alport Syndrome, X-Linked | 1 | CTD_human | |
Tgene | C1567743 | Alport Syndrome, Autosomal Dominant | 1 | CTD_human | |
Tgene | C1567744 | Alport Syndrome, Autosomal Recessive | 1 | CTD_human | |
Tgene | C1834478 | MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS | 1 | CTD_human | |
Tgene | C2931861 | Hemorrhagic hereditary nephritis | 1 | CTD_human | |
Tgene | C4280711 | Leukocyte inclusion bodies | 1 | GENOMICS_ENGLAND | |
Tgene | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |