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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:HG1785TG84174) |
Fusion Gene Summary for DNM2-MARS |
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Fusion gene information | Fusion gene name: DNM2-MARS | Fusion gene ID: hg1785tg84174 | 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 | ('DNM2')('MARS') 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 | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000314646, ENST00000355667, ENST00000359692, ENST00000389253, ENST00000408974, ENST00000585892, ENST00000591819, | ||
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. | DNM2-MARS 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. DNM2-MARS 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. DNM2-MARS 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. DNM2-MARS 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) |
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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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 |
![]() * 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 | + |
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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 |
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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 |
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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 |
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Fusion Protein Features for DNM2-MARS |
![]() 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. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 |
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>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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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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 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DNM2 | C4551952 | Myopathy, Centronuclear, 1 | 13 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | DNM2 | C1847902 | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) | 8 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | DNM2 | C1834558 | Myopathy, Centronuclear, Autosomal Dominant | 7 | CLINGEN;CTD_human;ORPHANET |
Hgene | DNM2 | C0175709 | Centronuclear myopathy | 2 | CTD_human;GENOMICS_ENGLAND |
Hgene | DNM2 | C3809272 | LETHAL CONGENITAL CONTRACTURE SYNDROME 5 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | DNM2 | C0410203 | X-linked centronuclear myopathy | 1 | CTD_human |
Hgene | DNM2 | C0410207 | Tubular Aggregate Myopathy | 1 | CTD_human |
Hgene | DNM2 | C0546264 | Congenital Fiber Type Disproportion | 1 | CTD_human |
Hgene | DNM2 | C0752282 | Congenital Structural Myopathy | 1 | CTD_human |
Hgene | DNM2 | C3645536 | Autosomal Recessive Centronuclear Myopathy | 1 | CTD_human |
Hgene | DNM2 | C3661489 | Autosomal Dominant Myotubular Myopathy | 1 | CTD_human |