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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:DNM2-MARS (FusionGDB2 ID:23645) |
Fusion Gene Summary for DNM2-MARS |
Fusion gene summary |
Fusion gene information | Fusion gene name: DNM2-MARS | Fusion gene ID: 23645 | Hgene | Tgene | Gene symbol | DNM2 | MARS | Gene ID | 1785 | 84174 |
Gene name | dynamin 2 | Src like adaptor 2 | |
Synonyms | CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5 | C20orf156|MARS|SLAP-2|SLAP2 | |
Cytomap | 19p13.2 | 20q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | dynamin-2dynamin II | src-like-adapter 2Src-like adapter protein-2modulator of antigen receptor signaling | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | P50570 | P56192 | |
Ensembl transtripts involved in fusion gene | ENST00000314646, ENST00000355667, ENST00000359692, ENST00000389253, ENST00000408974, ENST00000585892, ENST00000591819, | ENST00000447721, ENST00000262027, ENST00000315473, | |
Fusion gene scores | * DoF score | 36 X 17 X 17=10404 | 16 X 19 X 8=2432 |
# samples | 49 | 23 | |
** MAII score | log2(49/10404*10)=-4.40821274494042 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(23/2432*10)=-3.40243746249921 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DNM2 [Title/Abstract] AND MARS [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | DNM2(10897382)-MARS(57891940), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | DNM2 | GO:1903526 | negative regulation of membrane tubulation | 18388313 |
Tgene | MARS | GO:0000122 | negative regulation of transcription by RNA polymerase II | 11696592 |
Tgene | MARS | GO:0050849 | negative regulation of calcium-mediated signaling | 11696592 |
Fusion gene breakpoints across DNM2 (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 MARS (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 | STAD | TCGA-HU-A4GN-01A | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
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Fusion Gene ORF analysis for DNM2-MARS |
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 |
5CDS-3UTR | ENST00000314646 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
5CDS-3UTR | ENST00000355667 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
5CDS-3UTR | ENST00000359692 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
5CDS-3UTR | ENST00000389253 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
5CDS-3UTR | ENST00000408974 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
5CDS-3UTR | ENST00000585892 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000314646 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000314646 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000355667 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000355667 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000359692 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000359692 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000389253 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000389253 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000408974 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000408974 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000585892 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
In-frame | ENST00000585892 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
intron-3CDS | ENST00000591819 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
intron-3CDS | ENST00000591819 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
intron-3UTR | ENST00000591819 | ENST00000447721 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + |
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) |
ENST00000585892 | DNM2 | chr19 | 10897382 | + | ENST00000262027 | MARS | chr12 | 57891940 | + | 3157 | 1156 | 164 | 3088 | 974 |
ENST00000585892 | DNM2 | chr19 | 10897382 | + | ENST00000315473 | MARS | chr12 | 57891940 | + | 3139 | 1156 | 164 | 2995 | 943 |
ENST00000314646 | DNM2 | chr19 | 10897382 | + | ENST00000262027 | MARS | chr12 | 57891940 | + | 3157 | 1156 | 164 | 3088 | 974 |
ENST00000314646 | DNM2 | chr19 | 10897382 | + | ENST00000315473 | MARS | chr12 | 57891940 | + | 3139 | 1156 | 164 | 2995 | 943 |
ENST00000359692 | DNM2 | chr19 | 10897382 | + | ENST00000262027 | MARS | chr12 | 57891940 | + | 3143 | 1142 | 150 | 3074 | 974 |
ENST00000359692 | DNM2 | chr19 | 10897382 | + | ENST00000315473 | MARS | chr12 | 57891940 | + | 3125 | 1142 | 150 | 2981 | 943 |
ENST00000389253 | DNM2 | chr19 | 10897382 | + | ENST00000262027 | MARS | chr12 | 57891940 | + | 3105 | 1104 | 112 | 3036 | 974 |
ENST00000389253 | DNM2 | chr19 | 10897382 | + | ENST00000315473 | MARS | chr12 | 57891940 | + | 3087 | 1104 | 112 | 2943 | 943 |
ENST00000355667 | DNM2 | chr19 | 10897382 | + | ENST00000262027 | MARS | chr12 | 57891940 | + | 3073 | 1072 | 80 | 3004 | 974 |
ENST00000355667 | DNM2 | chr19 | 10897382 | + | ENST00000315473 | MARS | chr12 | 57891940 | + | 3055 | 1072 | 80 | 2911 | 943 |
ENST00000408974 | DNM2 | chr19 | 10897382 | + | ENST00000262027 | MARS | chr12 | 57891940 | + | 3028 | 1027 | 35 | 2959 | 974 |
ENST00000408974 | DNM2 | chr19 | 10897382 | + | ENST00000315473 | MARS | chr12 | 57891940 | + | 3010 | 1027 | 35 | 2866 | 943 |
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 |
ENST00000585892 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002621197 | 0.9973788 |
ENST00000585892 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002693366 | 0.9973066 |
ENST00000314646 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002621197 | 0.9973788 |
ENST00000314646 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002693366 | 0.9973066 |
ENST00000359692 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002537275 | 0.99746275 |
ENST00000359692 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002618713 | 0.99738127 |
ENST00000389253 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002465432 | 0.9975345 |
ENST00000389253 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002546461 | 0.9974535 |
ENST00000355667 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002469544 | 0.9975305 |
ENST00000355667 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002562372 | 0.9974376 |
ENST00000408974 | ENST00000262027 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.002555815 | 0.99744415 |
ENST00000408974 | ENST00000315473 | DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891940 | + | 0.00267739 | 0.9973226 |
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Fusion Genomic Features for DNM2-MARS |
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) |
DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891939 | + | 2.43E-09 | 1 |
DNM2 | chr19 | 10897382 | + | MARS | chr12 | 57891939 | + | 2.43E-09 | 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 DNM2-MARS |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:10897382/chr12:57891940) - 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 |
DNM2 | MARS |
FUNCTION: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). {ECO:0000250|UniProtKB:P39052, ECO:0000250|UniProtKB:P39054, ECO:0000269|PubMed:12498685}. | FUNCTION: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971). {ECO:0000269|PubMed:10791971, ECO:0000269|PubMed:11714285}. |
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 |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 28_294 | 330 | 871.0 | Domain | Dynamin-type G |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 28_294 | 330 | 867.0 | Domain | Dynamin-type G |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 28_294 | 330 | 871.0 | Domain | Dynamin-type G |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 28_294 | 330 | 867.0 | Domain | Dynamin-type G |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 28_294 | 330 | 870.0 | Domain | Dynamin-type G |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 205_211 | 330 | 871.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 236_239 | 330 | 871.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 38_46 | 330 | 871.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 205_211 | 330 | 867.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 236_239 | 330 | 867.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 38_46 | 330 | 867.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 205_211 | 330 | 871.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 236_239 | 330 | 871.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 38_46 | 330 | 871.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 205_211 | 330 | 867.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 236_239 | 330 | 867.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 38_46 | 330 | 867.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 205_211 | 330 | 870.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 236_239 | 330 | 870.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 38_46 | 330 | 870.0 | Nucleotide binding | GTP |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 136_139 | 330 | 871.0 | Region | G3 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 205_208 | 330 | 871.0 | Region | G4 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 235_238 | 330 | 871.0 | Region | G5 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 38_45 | 330 | 871.0 | Region | G1 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 64_66 | 330 | 871.0 | Region | G2 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 136_139 | 330 | 867.0 | Region | G3 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 205_208 | 330 | 867.0 | Region | G4 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 235_238 | 330 | 867.0 | Region | G5 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 38_45 | 330 | 867.0 | Region | G1 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 64_66 | 330 | 867.0 | Region | G2 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 136_139 | 330 | 871.0 | Region | G3 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 205_208 | 330 | 871.0 | Region | G4 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 235_238 | 330 | 871.0 | Region | G5 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 38_45 | 330 | 871.0 | Region | G1 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 64_66 | 330 | 871.0 | Region | G2 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 136_139 | 330 | 867.0 | Region | G3 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 205_208 | 330 | 867.0 | Region | G4 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 235_238 | 330 | 867.0 | Region | G5 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 38_45 | 330 | 867.0 | Region | G1 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 64_66 | 330 | 867.0 | Region | G2 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 136_139 | 330 | 870.0 | Region | G3 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 205_208 | 330 | 870.0 | Region | G4 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 235_238 | 330 | 870.0 | Region | G5 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 38_45 | 330 | 870.0 | Region | G1 motif |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 64_66 | 330 | 870.0 | Region | G2 motif |
Tgene | MARS | chr19:10897382 | chr12:57891940 | ENST00000262027 | 6 | 21 | 841_897 | 256 | 901.0 | Domain | Note=WHEP-TRS | |
Tgene | MARS | chr19:10897382 | chr12:57891940 | ENST00000262027 | 6 | 21 | 273_283 | 256 | 901.0 | Motif | Note='HIGH' region | |
Tgene | MARS | chr19:10897382 | chr12:57891940 | ENST00000262027 | 6 | 21 | 593_597 | 256 | 901.0 | Motif | Note='KMSKS' region |
- 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 | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 747_866 | 330 | 871.0 | Compositional bias | Note=Pro-rich |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 747_866 | 330 | 867.0 | Compositional bias | Note=Pro-rich |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 747_866 | 330 | 871.0 | Compositional bias | Note=Pro-rich |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 747_866 | 330 | 867.0 | Compositional bias | Note=Pro-rich |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 747_866 | 330 | 870.0 | Compositional bias | Note=Pro-rich |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 519_625 | 330 | 871.0 | Domain | PH |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000355667 | + | 7 | 21 | 653_744 | 330 | 871.0 | Domain | GED |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 519_625 | 330 | 867.0 | Domain | PH |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000359692 | + | 7 | 20 | 653_744 | 330 | 867.0 | Domain | GED |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 519_625 | 330 | 871.0 | Domain | PH |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000389253 | + | 7 | 21 | 653_744 | 330 | 871.0 | Domain | GED |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 519_625 | 330 | 867.0 | Domain | PH |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000408974 | + | 7 | 20 | 653_744 | 330 | 867.0 | Domain | GED |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 519_625 | 330 | 870.0 | Domain | PH |
Hgene | DNM2 | chr19:10897382 | chr12:57891940 | ENST00000585892 | + | 7 | 21 | 653_744 | 330 | 870.0 | Domain | GED |
Tgene | MARS | chr19:10897382 | chr12:57891940 | ENST00000262027 | 6 | 21 | 74_198 | 256 | 901.0 | Domain | Note=GST C-terminal |
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Fusion Gene Sequence for DNM2-MARS |
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. |
>23645_23645_1_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000262027_length(transcript)=3157nt_BP=1156nt GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAG AGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCAC AAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTG AAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAATGTACAA >23645_23645_1_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP -------------------------------------------------------------- >23645_23645_2_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000315473_length(transcript)=3139nt_BP=1156nt GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCC ACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTA CAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAG >23645_23645_2_DNM2-MARS_DNM2_chr19_10897382_ENST00000314646_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK -------------------------------------------------------------- >23645_23645_3_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000262027_length(transcript)=3073nt_BP=1072nt CAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACC GCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGA TCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCG TCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACT TTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAG TCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGT ACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACT CCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCA CCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGG GCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCA CGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGC TGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTG TGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCA GTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGA CCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTT CGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGC TGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCT ATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGAT CATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGC CTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCA AATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAG CCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCC ATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATG AGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCT ATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACC TGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGC GCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCA CCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAA CAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCC AGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTC CCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAG TTGTAGAGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGA AAGCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAAC CCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAAT >23645_23645_3_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP -------------------------------------------------------------- >23645_23645_4_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000315473_length(transcript)=3055nt_BP=1072nt CAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACC GCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGA TCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCG TCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACT TTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAG TCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGT ACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACT CCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCA CCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGG GCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCA CGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGC TGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTG TGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCA GTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGA CCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTT CGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGC TGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCT ATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGAT CATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGC CTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCA AATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAG CCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCC ATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATG AGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCT ATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACC TGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGC GCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCA CCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAA CAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCC AGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTC CCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCT CGCTCCACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCT CACTTACAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGA >23645_23645_4_DNM2-MARS_DNM2_chr19_10897382_ENST00000355667_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK -------------------------------------------------------------- >23645_23645_5_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000262027_length(transcript)=3143nt_BP=1142nt GCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGT CGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATC CCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAG AGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATT CTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAG ATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTG AACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATC CTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCC AAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTG GAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCA GCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACG CTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAG GTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTG CTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGG TACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGA CTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGC ACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAA CTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGAC CAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCG AGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCC AATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCC TTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGG GAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGC TCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAG AGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCT GAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGA GCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACC CTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAAC CAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTG AATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCA GCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAA AATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACA GCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCACAAAAGGCAGACAAG AACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGC >23645_23645_5_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP -------------------------------------------------------------- >23645_23645_6_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000315473_length(transcript)=3125nt_BP=1142nt GCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGT CGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATC CCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAG AGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATT CTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAG ATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTG AACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATC CTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCC AAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTG GAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCA GCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACG CTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAG GTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTG CTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGG TACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGA CTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGC ACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAA CTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGAC CAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCG AGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCC AATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCC TTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGG GAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGC TCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAG AGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCT GAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGA GCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACC CTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAAC CAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTG AATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCA GCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAA AATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCCACAACAGCCACAGC ATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTACAGTTTTTCTTTCC TGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAGGGGATATTTATGGT >23645_23645_6_DNM2-MARS_DNM2_chr19_10897382_ENST00000359692_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK -------------------------------------------------------------- >23645_23645_7_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000262027_length(transcript)=3105nt_BP=1104nt CCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCT CGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCAT CGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGG CCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTT TTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAA AGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGT GCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGC TGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGT CATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGG CGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCC GGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCT GCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCAC CCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCC CCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTG TGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCAT CCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACAT TTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCG CTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGA GCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAA GCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGG CCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTT TGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTA TCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAG CCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGA CACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCT GCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGT GCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGT TCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAA AGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTA CATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTT ACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGG GGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGT GACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCT AAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTC >23645_23645_7_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP -------------------------------------------------------------- >23645_23645_8_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000315473_length(transcript)=3087nt_BP=1104nt CCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACGCCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCT CGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCAT CGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGG CCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTT TTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAA AGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGT GCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGC TGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGT CATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGG CGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCC GGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCT GCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCAC CCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCC CCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTG TGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCAT CCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACAT TTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCG CTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGA GCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAA GCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGG CCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTT TGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTA TCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAG CCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGA CACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCT GCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGT GCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGT TCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAA AGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTA CATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTT ACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGG GGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCCACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATC ACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTACAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACC ACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAGGGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTCCAGGCAAAAACGT >23645_23645_8_DNM2-MARS_DNM2_chr19_10897382_ENST00000389253_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK -------------------------------------------------------------- >23645_23645_9_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000262027_length(transcript)=3028nt_BP=1027nt AGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACG CCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGG AGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAG AACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCA CGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGG GTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCA GCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTAC GGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAA GAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCT TCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACA TCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGC CCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACG TCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACA CCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACA AGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAA TCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCT TCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCA TCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGC CTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTT GGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTAT TCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGC AAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACT ATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGG ACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCT GGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCT TTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGC TACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCT GGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCA TGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACT TCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGC AGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAGAGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGC TGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCACAAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGA AACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTGAAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGG >23645_23645_9_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP -------------------------------------------------------------- >23645_23645_10_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000315473_length(transcript)=3010nt_BP=1027nt AGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGATGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACG CCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTGTAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGG AGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCCGGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAG AACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATGAAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCA CGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACTCGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGG GTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGATCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCA GCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACGCCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTAC GGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACGCCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAA GAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGAAGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCT TCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCACATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACA TCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGTCCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGC CCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTGGAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACG TCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCGATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACA CCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACA AGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAA TCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAGATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCT TCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGGAGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCA TCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCCCTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGC CTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCAGTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTT GGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGGGAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTAT TCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACTACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGC AAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCTTAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACT ATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATGGGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGG ACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGCTGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCT GGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCAACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCT TTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGCTGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGC TACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATATCTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCT GGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGACTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCA TGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGCAGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACT TCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGTTCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGC AGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCCACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTA GTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTACAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGA CTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAGGGGATATTTATGGTTGCTGGTGATAACTTTGTTGTTCTC >23645_23645_10_DNM2-MARS_DNM2_chr19_10897382_ENST00000408974_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK -------------------------------------------------------------- >23645_23645_11_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000262027_length(transcript)=3157nt_BP=1156nt GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGCAAAAACGTCCCCGAAGCCAGCAGTTGTAG AGACTGTTACAACAGCCAAGCCACAGCAGATACAAGCGCTGATGGATGAAGTGACAAAACAAGGAAACATTGTCCGAGAACTGAAAGCAC AAAAGGCAGACAAGAACGAGGTTGCTGCGGAGGTGGCGAAACTCTTGGATCTAAAGAAACAGTTGGCTGTAGCTGAGGGGAAACCCCCTG AAGCCCCTAAAGGCAAGAAGAAAAAGTAAAAGACCTTGGCTCATAGAAAGTCACTTTAATAGATAGGGACAGTAATAAATAAATGTACAA >23645_23645_11_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000262027_length(amino acids)=974AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSP -------------------------------------------------------------- >23645_23645_12_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000315473_length(transcript)=3139nt_BP=1156nt GAGAACCGGATGAGGCGGCGACCGTGAGGCCGAGCCGGGAGCGGGCGTCTTGCCGAGGCCCGGGCGGGCGGGGAGCAACGGCTACAGACG CCGCGGGGCCAGGTCGTTGAGGGTCGGCGGCGGGCGAGGAGCGCAGGGCGCTCGGGCCGGGGGCCGCCGGCGCCATGGGCAACCGCGGGA TGGAAGAGCTGATCCCGCTGGTCAACAAACTGCAGGACGCCTTCAGCTCCATCGGCCAGAGCTGCCACCTGGACCTGCCGCAGATCGCTG TAGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTGGAGAACTTCGTGGGCCGGGACTTCCTTCCCCGCGGTTCAGGAATCGTCACCC GGCGGCCTCTCATTCTGCAGCTCATCTTCTCAAAAACAGAACATGCCGAGTTTTTGCACTGCAAGTCCAAAAAGTTTACAGACTTTGATG AAGTCCGGCAGGAGATTGAAGCAGAGACCGACAGGGTCACGGGGACCAACAAAGGCATCTCCCCAGTGCCCATCAACCTTCGAGTCTACT CGCCACACGTGTTGAACTTGACCCTCATCGACCTCCCGGGTATCACCAAGGTGCCTGTGGGCGACCAGCCTCCAGACATCGAGTACCAGA TCAAGGACATGATCCTGCAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCACGCCCGCCAACATGGACCTGGCCAACTCCGACG CCCTCAAGCTGGCCAAGGAAGTCGATCCCCAAGGCCTACGGACCATCGGTGTCATCACCAAGCTTGACCTGATGGACGAGGGCACCGACG CCAGGGACGTCTTGGAGAACAAGTTGCTCCCGTTGAGAAGAGGCTACATTGGCGTGGTGAACCGCAGCCAGAAGGATATTGAGGGCAAGA AGGACATCCGTGCAGCACTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTACCGGCACATGGCCGACCGCATGGGCACGCCAC ATCTGCAGAAGACGCTGAATCAGCAACTGACCAACCACATCCGGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAGCTGCTGT CCCTGGAGAAGGAGGTGGAGGAGTACAAGAACTTTCGGCCCGACGACCCCACCCGCAAAACCAAAGCCCTGCTGCAGTTGCCTGTGGCTG GAGAAAGGAATGTGCTCATCACCAGTGCCCTCCCTTACGTCAACAATGTCCCCCACCTTGGGAACATCATTGGTTGTGTGCTCAGTGCCG ATGTCTTTGCCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGG CTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTG ATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAAATCACCCAGGACATTTTCCAGCAGTTGCTGAAACGAGGTTTTGTGCTGCAAG ATACTGTGGAGCAACTGCGATGTGAGCACTGTGCTCGCTTCCTGGCTGACCGCTTCGTGGAGGGCGTGTGTCCCTTCTGTGGCTATGAGG AGGCTCGGGGTGACCAGTGTGACAAGTGTGGCAAGCTCATCAATGCTGTCGAGCTTAAGAAGCCTCAGTGTAAAGTCTGCCGATCATGCC CTGTGGTGCAGTCGAGCCAGCACCTGTTTCTGGACCTGCCTAAGCTGGAGAAGCGACTGGAGGAGTGGTTGGGGAGGACATTGCCTGGCA GTGACTGGACACCCAATGCCCAGTTTATCACCCGTTCTTGGCTTCGGGATGGCCTCAAGCCACGCTGCATAACCCGAGACCTCAAATGGG GAACCCCTGTACCCTTAGAAGGTTTTGAAGACAAGGTATTCTATGTCTGGTTTGATGCCACTATTGGCTATCTGTCCATCACAGCCAACT ACACAGACCAGTGGGAGAGATGGTGGAAGAACCCAGAGCAAGTGGACCTGTATCAGTTCATGGCCAAAGACAATGTTCCTTTCCATAGCT TAGTCTTTCCTTGCTCAGCCCTAGGAGCTGAGGATAACTATACCTTGGTCAGCCACCTCATTGCTACAGAGTACCTGAACTATGAGGATG GGAAATTCTCTAAGAGCCGCGGTGTGGGAGTGTTTGGGGACATGGCCCAGGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC TGTACATTCGGCCTGAGGGCCAGGACAGTGCTTTCTCCTGGACGGACCTGCTGCTGAAGAATAATTCTGAGCTGCTTAACAACCTGGGCA ACTTCATCAACAGAGCTGGGATGTTTGTGTCTAAGTTCTTTGGGGGCTATGTGCCTGAGATGGTGCTCACCCCTGATGATCAGCGCCTGC TGGCCCATGTCACCCTGGAGCTCCAGCACTATCACCAGCTACTTGAGAAGGTTCGGATCCGGGATGCCTTGCGCAGTATCCTCACCATAT CTCGACATGGCAACCAATATATTCAGGTGAATGAGCCCTGGAAGCGGATTAAAGGCAGTGAGGCTGACAGGCAACGGGCAGGAACAGTGA CTGGCTTGGCAGTGAATATAGCTGCCTTGCTCTCTGTCATGCTTCAGCCTTACATGCCCACGGTTAGTGCCACAATCCAGGCCCAGCTGC AGCTCCCACCTCCAGCCTGCAGTATCCTGCTGACAAACTTCCTGTGTACCTTACCAGCAGGACACCAGATTGGCACAGTCAGTCCCTTGT TCCAAAAATTGGAAAATGACCAGATTGAAAGTTTAAGGCAGCGCTTTGGAGGGGGCCAGGTGAGAAAGCTAAAGGCTGTGCCCTCGCTCC ACAACAGCCACAGCATCACTTCCCTAATTTCCCTAAGTAGTCCTCACCCATCACTCTTTCCATCTTTTGGCCCTGCCGCTTCCTCACTTA CAGTTTTTCTTTCCTGTCTTAACTAGAAGAGACCTTCGACTTAAAGGTAACCACTTTCCCTCTGAGATGCTGTATAAAACTGGAGGTTAG >23645_23645_12_DNM2-MARS_DNM2_chr19_10897382_ENST00000585892_MARS_chr12_57891940_ENST00000315473_length(amino acids)=943AA_BP=331 MGNRGMEELIPLVNKLQDAFSSIGQSCHLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLILQLIFSKTEHAEFLHCKSKK FTDFDEVRQEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIKDMILQFISRESSLILAVTPANMD LANSDALKLAKEVDPQGLRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQKDIEGKKDIRAALAAERKFFLSHPAYRHMAD RMGTPHLQKTLNQQLTNHIRESLPALRSKLQSQLLSLEKEVEEYKNFRPDDPTRKTKALLQLPVAGERNVLITSALPYVNNVPHLGNIIG CVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKR GFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLG RTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDN VPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSEL LNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQ RAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQVRKLK -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for DNM2-MARS |
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 DNM2-MARS |
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 DNM2-MARS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |