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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:MAT2B-LARS (FusionGDB2 ID:51875) |
Fusion Gene Summary for MAT2B-LARS |
Fusion gene summary |
Fusion gene information | Fusion gene name: MAT2B-LARS | Fusion gene ID: 51875 | Hgene | Tgene | Gene symbol | MAT2B | LARS | Gene ID | 27430 | 51520 |
Gene name | methionine adenosyltransferase 2B | leucyl-tRNA synthetase 1 | |
Synonyms | MAT-II|MATIIbeta|Nbla02999|SDR23E1|TGR | HSPC192|ILFS1|LARS|LEURS|LEUS|LFIS|LRS|PIG44|RNTLS|hr025Cl | |
Cytomap | 5q34 | 5q32 | |
Type of gene | protein-coding | protein-coding | |
Description | methionine adenosyltransferase 2 subunit betaMAT II betabeta regulatory subunit of methionine adenosyltransferasedTDP-4-keto-6-deoxy-D-glucose 4-reductasemethionine adenosyltransferase II, betaputative dTDP-4-keto-6-deoxy-D-glucose 4-reductaseputati | leucine--tRNA ligase, cytoplasmiccytoplasmic leucyl-tRNA synthetasecytosolic leucyl-tRNA synthetaseleucine tRNA ligase 1, cytoplasmicleucine translaseproliferation-inducing gene 44 | |
Modification date | 20200315 | 20200313 | |
UniProtAcc | Q9NZL9 | Q15031 | |
Ensembl transtripts involved in fusion gene | ENST00000321757, ENST00000518095, ENST00000280969, ENST00000521838, | ENST00000511505, ENST00000510191, ENST00000274562, ENST00000394434, ENST00000545646, | |
Fusion gene scores | * DoF score | 5 X 3 X 5=75 | 10 X 8 X 6=480 |
# samples | 6 | 10 | |
** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/480*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MAT2B [Title/Abstract] AND LARS [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | MAT2B(162932755)-LARS(145557228), # 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 | MAT2B | GO:0006556 | S-adenosylmethionine biosynthetic process | 10644686|25075345 |
Tgene | LARS | GO:0006425 | glutaminyl-tRNA aminoacylation | 26869582 |
Fusion gene breakpoints across MAT2B (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 LARS (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-8238-01A | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
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Fusion Gene ORF analysis for MAT2B-LARS |
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-5UTR | ENST00000321757 | ENST00000511505 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
5CDS-5UTR | ENST00000518095 | ENST00000511505 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
5CDS-intron | ENST00000321757 | ENST00000510191 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
5CDS-intron | ENST00000518095 | ENST00000510191 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
In-frame | ENST00000321757 | ENST00000274562 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
In-frame | ENST00000321757 | ENST00000394434 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
In-frame | ENST00000321757 | ENST00000545646 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
In-frame | ENST00000518095 | ENST00000274562 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
In-frame | ENST00000518095 | ENST00000394434 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
In-frame | ENST00000518095 | ENST00000545646 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-3CDS | ENST00000280969 | ENST00000274562 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-3CDS | ENST00000280969 | ENST00000394434 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-3CDS | ENST00000280969 | ENST00000545646 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-3CDS | ENST00000521838 | ENST00000274562 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-3CDS | ENST00000521838 | ENST00000394434 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-3CDS | ENST00000521838 | ENST00000545646 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-5UTR | ENST00000280969 | ENST00000511505 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-5UTR | ENST00000521838 | ENST00000511505 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-intron | ENST00000280969 | ENST00000510191 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
intron-intron | ENST00000521838 | ENST00000510191 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - |
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) |
ENST00000321757 | MAT2B | chr5 | 162932755 | + | ENST00000394434 | LARS | chr5 | 145557228 | - | 4795 | 202 | 139 | 3726 | 1195 |
ENST00000321757 | MAT2B | chr5 | 162932755 | + | ENST00000545646 | LARS | chr5 | 145557228 | - | 3852 | 202 | 139 | 3588 | 1149 |
ENST00000321757 | MAT2B | chr5 | 162932755 | + | ENST00000274562 | LARS | chr5 | 145557228 | - | 3841 | 202 | 139 | 3645 | 1168 |
ENST00000518095 | MAT2B | chr5 | 162932755 | + | ENST00000394434 | LARS | chr5 | 145557228 | - | 4729 | 136 | 73 | 3660 | 1195 |
ENST00000518095 | MAT2B | chr5 | 162932755 | + | ENST00000545646 | LARS | chr5 | 145557228 | - | 3786 | 136 | 73 | 3522 | 1149 |
ENST00000518095 | MAT2B | chr5 | 162932755 | + | ENST00000274562 | LARS | chr5 | 145557228 | - | 3775 | 136 | 73 | 3579 | 1168 |
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 |
ENST00000321757 | ENST00000394434 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - | 0.000209276 | 0.9997907 |
ENST00000321757 | ENST00000545646 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - | 0.000333228 | 0.9996668 |
ENST00000321757 | ENST00000274562 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - | 0.00035343 | 0.99964654 |
ENST00000518095 | ENST00000394434 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - | 0.000192137 | 0.9998079 |
ENST00000518095 | ENST00000545646 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - | 0.000306739 | 0.9996933 |
ENST00000518095 | ENST00000274562 | MAT2B | chr5 | 162932755 | + | LARS | chr5 | 145557228 | - | 0.00032461 | 0.9996754 |
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Fusion Genomic Features for MAT2B-LARS |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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 MAT2B-LARS |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:162932755/chr5:145557228) - 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 |
MAT2B | LARS |
FUNCTION: Regulatory subunit of S-adenosylmethionine synthetase 2, an enzyme that catalyzes the formation of S-adenosylmethionine from methionine and ATP. Regulates MAT2A catalytic activity by changing its kinetic properties, increasing its affinity for L-methionine (PubMed:10644686, PubMed:23189196, PubMed:25075345). Can bind NADP (in vitro) (PubMed:23189196, PubMed:23425511). {ECO:0000269|PubMed:10644686, ECO:0000269|PubMed:23189196, ECO:0000269|PubMed:23425511, ECO:0000269|PubMed:25075345}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | LARS | chr5:162932755 | chr5:145557228 | ENST00000394434 | 0 | 32 | 53_63 | 2 | 1177.0 | Motif | Note='HIGH' region | |
Tgene | LARS | chr5:162932755 | chr5:145557228 | ENST00000394434 | 0 | 32 | 716_720 | 2 | 1177.0 | Motif | Note='KMSKS' region | |
Tgene | LARS | chr5:162932755 | chr5:145557228 | ENST00000394434 | 0 | 32 | 260_509 | 2 | 1177.0 | Region | Note=Editing domain |
- 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 | MAT2B | chr5:162932755 | chr5:145557228 | ENST00000280969 | + | 1 | 7 | 37_40 | 0 | 324.0 | Nucleotide binding | NADP |
Hgene | MAT2B | chr5:162932755 | chr5:145557228 | ENST00000280969 | + | 1 | 7 | 71_72 | 0 | 324.0 | Nucleotide binding | NADP |
Hgene | MAT2B | chr5:162932755 | chr5:145557228 | ENST00000321757 | + | 1 | 7 | 37_40 | 21 | 335.0 | Nucleotide binding | NADP |
Hgene | MAT2B | chr5:162932755 | chr5:145557228 | ENST00000321757 | + | 1 | 7 | 71_72 | 21 | 335.0 | Nucleotide binding | NADP |
Hgene | MAT2B | chr5:162932755 | chr5:145557228 | ENST00000518095 | + | 1 | 5 | 37_40 | 21 | 260.0 | Nucleotide binding | NADP |
Hgene | MAT2B | chr5:162932755 | chr5:145557228 | ENST00000518095 | + | 1 | 5 | 71_72 | 21 | 260.0 | Nucleotide binding | NADP |
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Fusion Gene Sequence for MAT2B-LARS |
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. |
>51875_51875_1_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000321757_LARS_chr5_145557228_ENST00000274562_length(transcript)=3841nt_BP=202nt GCAGCGGAAGCCGGAAGCGGCGAGCGGGGTCGTTCTGGGCCTAGGGGAGGCGGGCCGAGGGCGTCTGAGCTGAGGCCCGCGTCGATCCTG GGTTGGAGGAGGTGGCGGCCGCTGAGGCTGCGGCGTGAAGACGGCGGGCATGGTGGGGCGGGAGAAAGAGCTCTCTATACACTTTGTTCC CGGGAGCTGTCGGCTGGTGGAGGAAAGAAAAGGAACAGCCAAAGTGGACTTTTTGAAGAAGATTGAGAAAGAAATCCAACAGAAATGGGA TACTGAGAGAGTGTTTGAGGTCAATGCATCTAATTTAGAGAAACAGACCAGCAAGGGCAAGTATTTTGTAACCTTCCCATATCCATATAT GAATGGACGCCTTCATTTGGGACACACGTTTTCTTTATCCAAATGTGAGGCATGTGCTGATAAGTTGAAAAGAGAAATAGAGCTGTATGG TTGCCCCCCTGATTTTCCAGATGAAGAAGAGGAAGAGGAAGAAACCAGTGTTAAAACAGAAGATATAATAATTAAGGATAAAGCTAAAGG AAAAAAGAGTAAAGCTGCTGCTAAAGCTGGATCTTCTAAATACCAGTGGGGCATTATGAAATCCCTTGGCCTGTCTGATGAAGAGATAGT AAAATTTTCTGAAGCAGAACATTGGCTTGATTATTTCCCGCCACTGGCTATTCAGGATTTAAAAAGAATGGGTTTGAAGGTAGACTGGCG TCGTTCCTTCATCACCACTGATGTTAATCCTTACTATGATTCATTTGTCAGATGGCAATTTTTAACATTAAGAGAAAGAAACAAAATTAA ATTTGGGAAGCGGTATACAATTTACTCTCCGAAAGATGGACAGCCTTGCATGGATCATGATAGACAAACTGGAGAGGGTGTTGGACCTCA GGAATATACTTTACTCAAATTGAAGGTGCTTGAGCCATACCCATCTAAATTAAGTGGCCTGAAAGGTAAAAATATTTTCTTGGTGGCTGC TACTCTCAGACCTGAGACCATGTTTGGGCAGACAAATTGTTGGGTTCGTCCTGATATGAAGTACATTGGATTTGAGACGGTGAATGGTGA TATATTCATCTGTACCCAAAAAGCAGCCAGGAATATGTCATACCAGGGCTTTACCAAAGACAATGGCGTGGTGCCTGTTGTTAAGGAATT AATGGGGGAGGAAATTCTTGGTGCATCACTTTCTGCACCTTTAACATCATACAAGGTGATCTATGTTCTCCCAATGCTAACTATTAAGGA GGATAAAGGCACTGGTGTGGTTACAAGTGTTCCTTCCGACTCCCCTGATGATATTGCTGCCCTCAGAGACTTGAAGAAAAAGCAAGCCTT ACGAGCAAAATATGGAATTAGAGATGACATGGTCTTGCCATTTGAGCCGGTGCCAGTCATTGAAATCCCAGGTTTTGGAAATCTTTCTGC TGTAACCATTTGTGATGAGTTGAAAATTCAGAGCCAGAATGACCGGGAAAAACTTGCAGAAGCAAAGGAGAAGATATATCTAAAAGGATT TTATGAGGGTATCATGTTGGTGGATGGATTTAAAGGACAGAAGGTTCAAGATGTAAAGAAGACTATTCAGAAAAAGATGATTGACGCTGG AGATGCACTTATTTACATGGAACCAGAGAAACAAGTGATGTCCAGGTCGTCAGATGAATGTGTTGTGGCTCTGTGTGACCAGTGGTACTT GGATTATGGAGAAGAGAATTGGAAGAAACAGACATCTCAGTGCTTGAAGAACCTGGAAACATTCTGTGAGGAGACCAGGAGGAATTTTGA AGCCACCTTAGGTTGGCTACAAGAACATGCTTGCTCAAGAACTTATGGTCTAGGCACTCACCTGCCTTGGGATGAGCAGTGGCTGATTGA ATCACTTTCTGACTCCACTATTTACATGGCATTTTACACAGTTGCACACCTATTGCAGGGGGGTAACTTGCATGGACAGGCAGAGTCTCC GCTGGGCATTAGACCGCAACAGATGACCAAGGAAGTTTGGGATTATGTTTTCTTCAAGGAGGCTCCATTTCCTAAGACTCAGATTGCAAA GGAAAAATTAGATCAGTTAAAGCAGGAGTTTGAATTCTGGTATCCTGTTGATCTTCGCGTCTCTGGCAAGGATCTTGTTCCAAATCATCT TTCATATTACCTTTATAATCATGTGGCTATGTGGCCGGAACAAAGTGACAAATGGCCTACAGCTGTGAGAGCAAATGGACATCTCCTCCT GAACTCTGAGAAGATGTCAAAATCCACAGGCAACTTCCTCACTTTGACCCAAGCTATTGACAAATTTTCAGCAGATGGAATGCGTTTGGC TCTGGCTGATGCTGGTGACACTGTAGAAGATGCCAACTTTGTGGAAGCCATGGCAGATGCAGGTATTCTCCGTCTGTACACCTGGGTAGA GTGGGTGAAAGAAATGGTTGCCAACTGGGACAGCCTAAGAAGTGGTCCTGCCAGCACTTTCAATGATAGAGTTTTTGCCAGTGAATTGAA TGCAGGAATTATAAAAACAGATCAAAACTATGAAAAGATGATGTTTAAAGAAGCTTTGAAAACAGGGTTTTTTGAGTTTCAGGCCGCAAA AGATAAGTACCGTGAATTGGCTGTGGAAGGGATGCACAGAGAACTTGTGTTCCGGTTTATTGAAGTTCAGACACTTCTCCTCGCTCCATT CTGTCCACATTTGTGTGAGCACATCTGGACACTCCTGGGAAAGCCTGACTCAATTATGAATGCTTCATGGCCTGTGGCAGGTCCTGTTAA TGAAGTTTTAATACACTCCTCACAGTATCTTATGGAAGTAACACATGACCTTAGACTACGACTCAAGAACTATATGATGCCAGCTAAAGG GAAGAAGACTGACAAACAACCCCTGCAGAAGCCCTCACATTGCACCATCTATGTGGCAAAGAACTATCCACCTTGGCAACATACCACCCT GTCTGTTCTACGTAAACACTTTGAGGCCAATAACGGAAAACTGCCTGACAACAAAGTCATTGCTAGTGAACTAGGCAGTATGCCAGAACT GAAGAAATACATGAAGAAAGTCATGCCATTTGTTGCCATGATTAAGGAAAATCTGGAGAAGATGGGGCCTCGTATTCTGGATTTGCAATT AGAATTTGATGAAAAGGCTGTGCTTATGGAGAATATAGTCTATCTGACTAATTCGCTTGAGCTAGAACACATAGAAGTCAAGTTTGCCTC CGAAGCAGAAGATAAAATCAGGGAAGACTGCTGTCCTGGGAAACCACTTAATGTTTTTAGAATAGAACCTGGTGTGTCCGTTTCTCTGGT GAATCCCCAGCCATCCAATGGCCACTTCTCAACCAAAATTGAAATCAGGCAAGGAGATAACTGTGATTCCATAATCAGGCGTTTAATGAA AATGAATCGAGGAATTAAAGACCTTTCCAAAGTGAAACTGATGAGATTTGATGATCCACTGTTGGGGCCTCGACGAGTTCCTGTCCTGGG AAAGGAGTACACCGAGAAGACCCCCATTTCTGAGCATGCTGTTTTCAATGTGGACCTCATGAGCAAGAAAATTCATCTGACTGAGAATGG GATAAGGGTGGATATTGGCGATACAATAATCTATCTGGTTCATTAAACTCATGCACATTGGAGATTTATCCTGGTTTCTTAGGAATACTA CTACTCTGATTGTGTCTACTGATTGGCTATCAGAACCTTAGGCTGGACCTAAATAGATTGATTTCATTTCTAACCATCCAATTCTGCATG >51875_51875_1_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000321757_LARS_chr5_145557228_ENST00000274562_length(amino acids)=1168AA_BP=21 MVGREKELSIHFVPGSCRLVEERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCE ACADKLKREIELYGCPPDFPDEEEEEEETSVKTEDIIIKDKAKGKKSKAAAKAGSSKYQWGIMKSLGLSDEEIVKFSEAEHWLDYFPPLA IQDLKRMGLKVDWRRSFITTDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIYSPKDGQPCMDHDRQTGEGVGPQEYTLLKLKVLEPYPSK LSGLKGKNIFLVAATLRPETMFGQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTKDNGVVPVVKELMGEEILGASLSAPLTS YKVIYVLPMLTIKEDKGTGVVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPVIEIPGFGNLSAVTICDELKIQSQNDRE KLAEAKEKIYLKGFYEGIMLVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDECVVALCDQWYLDYGEENWKKQTSQCLK NLETFCEETRRNFEATLGWLQEHACSRTYGLGTHLPWDEQWLIESLSDSTIYMAFYTVAHLLQGGNLHGQAESPLGIRPQQMTKEVWDYV FFKEAPFPKTQIAKEKLDQLKQEFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWPTAVRANGHLLLNSEKMSKSTGNFLTLT QAIDKFSADGMRLALADAGDTVEDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPASTFNDRVFASELNAGIIKTDQNYEKMMFK EALKTGFFEFQAAKDKYRELAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIMNASWPVAGPVNEVLIHSSQYLMEVTHD LRLRLKNYMMPAKGKKTDKQPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKVIASELGSMPELKKYMKKVMPFVAMIKE NLEKMGPRILDLQLEFDEKAVLMENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVFRIEPGVSVSLVNPQPSNGHFSTKIEIR -------------------------------------------------------------- >51875_51875_2_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000321757_LARS_chr5_145557228_ENST00000394434_length(transcript)=4795nt_BP=202nt GCAGCGGAAGCCGGAAGCGGCGAGCGGGGTCGTTCTGGGCCTAGGGGAGGCGGGCCGAGGGCGTCTGAGCTGAGGCCCGCGTCGATCCTG GGTTGGAGGAGGTGGCGGCCGCTGAGGCTGCGGCGTGAAGACGGCGGGCATGGTGGGGCGGGAGAAAGAGCTCTCTATACACTTTGTTCC CGGGAGCTGTCGGCTGGTGGAGGAAAGAAAAGGAACAGCCAAAGTGGACTTTTTGAAGAAGATTGAGAAAGAAATCCAACAGAAATGGGA TACTGAGAGAGTGTTTGAGGTCAATGCATCTAATTTAGAGAAACAGACCAGCAAGGGCAAGTATTTTGTAACCTTCCCATATCCATATAT GAATGGACGCCTTCATTTGGGACACACGTTTTCTTTATCCAAATGTGAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCT GTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGCATGTGCTGATAAGTTGAAAAGAGAAATAGAGCTGTATGGTTGCCCCCC TGATTTTCCAGATGAAGAAGAGGAAGAGGAAGAAACCAGTGTTAAAACAGAAGATATAATAATTAAGGATAAAGCTAAAGGAAAAAAGAG TAAAGCTGCTGCTAAAGCTGGATCTTCTAAATACCAGTGGGGCATTATGAAATCCCTTGGCCTGTCTGATGAAGAGATAGTAAAATTTTC TGAAGCAGAACATTGGCTTGATTATTTCCCGCCACTGGCTATTCAGGATTTAAAAAGAATGGGTTTGAAGGTAGACTGGCGTCGTTCCTT CATCACCACTGATGTTAATCCTTACTATGATTCATTTGTCAGATGGCAATTTTTAACATTAAGAGAAAGAAACAAAATTAAATTTGGGAA GCGGTATACAATTTACTCTCCGAAAGATGGACAGCCTTGCATGGATCATGATAGACAAACTGGAGAGGGTGTTGGACCTCAGGAATATAC TTTACTCAAATTGAAGGTGCTTGAGCCATACCCATCTAAATTAAGTGGCCTGAAAGGTAAAAATATTTTCTTGGTGGCTGCTACTCTCAG ACCTGAGACCATGTTTGGGCAGACAAATTGTTGGGTTCGTCCTGATATGAAGTACATTGGATTTGAGACGGTGAATGGTGATATATTCAT CTGTACCCAAAAAGCAGCCAGGAATATGTCATACCAGGGCTTTACCAAAGACAATGGCGTGGTGCCTGTTGTTAAGGAATTAATGGGGGA GGAAATTCTTGGTGCATCACTTTCTGCACCTTTAACATCATACAAGGTGATCTATGTTCTCCCAATGCTAACTATTAAGGAGGATAAAGG CACTGGTGTGGTTACAAGTGTTCCTTCCGACTCCCCTGATGATATTGCTGCCCTCAGAGACTTGAAGAAAAAGCAAGCCTTACGAGCAAA ATATGGAATTAGAGATGACATGGTCTTGCCATTTGAGCCGGTGCCAGTCATTGAAATCCCAGGTTTTGGAAATCTTTCTGCTGTAACCAT TTGTGATGAGTTGAAAATTCAGAGCCAGAATGACCGGGAAAAACTTGCAGAAGCAAAGGAGAAGATATATCTAAAAGGATTTTATGAGGG TATCATGTTGGTGGATGGATTTAAAGGACAGAAGGTTCAAGATGTAAAGAAGACTATTCAGAAAAAGATGATTGACGCTGGAGATGCACT TATTTACATGGAACCAGAGAAACAAGTGATGTCCAGGTCGTCAGATGAATGTGTTGTGGCTCTGTGTGACCAGTGGTACTTGGATTATGG AGAAGAGAATTGGAAGAAACAGACATCTCAGTGCTTGAAGAACCTGGAAACATTCTGTGAGGAGACCAGGAGGAATTTTGAAGCCACCTT AGGTTGGCTACAAGAACATGCTTGCTCAAGAACTTATGGTCTAGGCACTCACCTGCCTTGGGATGAGCAGTGGCTGATTGAATCACTTTC TGACTCCACTATTTACATGGCATTTTACACAGTTGCACACCTATTGCAGGGGGGTAACTTGCATGGACAGGCAGAGTCTCCGCTGGGCAT TAGACCGCAACAGATGACCAAGGAAGTTTGGGATTATGTTTTCTTCAAGGAGGCTCCATTTCCTAAGACTCAGATTGCAAAGGAAAAATT AGATCAGTTAAAGCAGGAGTTTGAATTCTGGTATCCTGTTGATCTTCGCGTCTCTGGCAAGGATCTTGTTCCAAATCATCTTTCATATTA CCTTTATAATCATGTGGCTATGTGGCCGGAACAAAGTGACAAATGGCCTACAGCTGTGAGAGCAAATGGACATCTCCTCCTGAACTCTGA GAAGATGTCAAAATCCACAGGCAACTTCCTCACTTTGACCCAAGCTATTGACAAATTTTCAGCAGATGGAATGCGTTTGGCTCTGGCTGA TGCTGGTGACACTGTAGAAGATGCCAACTTTGTGGAAGCCATGGCAGATGCAGGTATTCTCCGTCTGTACACCTGGGTAGAGTGGGTGAA AGAAATGGTTGCCAACTGGGACAGCCTAAGAAGTGGTCCTGCCAGCACTTTCAATGATAGAGTTTTTGCCAGTGAATTGAATGCAGGAAT TATAAAAACAGATCAAAACTATGAAAAGATGATGTTTAAAGAAGCTTTGAAAACAGGGTTTTTTGAGTTTCAGGCCGCAAAAGATAAGTA CCGTGAATTGGCTGTGGAAGGGATGCACAGAGAACTTGTGTTCCGGTTTATTGAAGTTCAGACACTTCTCCTCGCTCCATTCTGTCCACA TTTGTGTGAGCACATCTGGACACTCCTGGGAAAGCCTGACTCAATTATGAATGCTTCATGGCCTGTGGCAGGTCCTGTTAATGAAGTTTT AATACACTCCTCACAGTATCTTATGGAAGTAACACATGACCTTAGACTACGACTCAAGAACTATATGATGCCAGCTAAAGGGAAGAAGAC TGACAAACAACCCCTGCAGAAGCCCTCACATTGCACCATCTATGTGGCAAAGAACTATCCACCTTGGCAACATACCACCCTGTCTGTTCT ACGTAAACACTTTGAGGCCAATAACGGAAAACTGCCTGACAACAAAGTCATTGCTAGTGAACTAGGCAGTATGCCAGAACTGAAGAAATA CATGAAGAAAGTCATGCCATTTGTTGCCATGATTAAGGAAAATCTGGAGAAGATGGGGCCTCGTATTCTGGATTTGCAATTAGAATTTGA TGAAAAGGCTGTGCTTATGGAGAATATAGTCTATCTGACTAATTCGCTTGAGCTAGAACACATAGAAGTCAAGTTTGCCTCCGAAGCAGA AGATAAAATCAGGGAAGACTGCTGTCCTGGGAAACCACTTAATGTTTTTAGAATAGAACCTGGTGTGTCCGTTTCTCTGGTGAATCCCCA GCCATCCAATGGCCACTTCTCAACCAAAATTGAAATCAGGCAAGGAGATAACTGTGATTCCATAATCAGGCGTTTAATGAAAATGAATCG AGGAATTAAAGACCTTTCCAAAGTGAAACTGATGAGATTTGATGATCCACTGTTGGGGCCTCGACGAGTTCCTGTCCTGGGAAAGGAGTA CACCGAGAAGACCCCCATTTCTGAGCATGCTGTTTTCAATGTGGACCTCATGAGCAAGAAAATTCATCTGACTGAGAATGGGATAAGGGT GGATATTGGCGATACAATAATCTATCTGGTTCATTAAACTCATGCACATTGGAGATTTATCCTGGTTTCTTAGGAATACTACTACTCTGA TTGTGTCTACTGATTGGCTATCAGAACCTTAGGCTGGACCTAAATAGATTGATTTCATTTCTAACCATCCAATTCTGCATGTATTCATAA TTCTATCAAGTCATCTTTGATTCCTGGACCTAATAAATTTTTTTTCCCTTTCTTTGGGTGTCCAAGAGAAATGGTTTTTGCCAAACTCTT TTTAAAAAACAAATTGTTGCTATTTCCTAGAAGTTTCTGGTTTTTAAGATGAACATAAAAGTGTCAGTATGCTTCTTTTATGAGGTGTAC TTTATACTTTGATGAAGGCTAAGGTGTACCTAACAGCTTTTTATAGTATATTCATTTATGGAGTTAGCTGTATTTTTTTTTAAAAAAGAA AAGTAGTAAATTAGCAGCTTTTTTTTTTAAATGAAGAGAACTTCATGATGATTTAAAAGAACTAATGAGAATATTTTGACTTGACTTCAA TTACTAAGTATTTTGTATAAAGAACAAATAGGTCCTGCATTTTATAAGACTTTTTAAAGCTTTAATTATTCAACTAAGAACCAATAATGG CTTCTTCAAGGCTAATATCAATAGTTTATAAGCAGTATATTTCACCTACACTAAATATGGGCATTTTAAAAGAAGATTCCCCCCTTCCCC CCCAGAAATCTGCATTTACTAAATTTGTCTTAAGTCCAATTGTGTTTAAAGGTCATGCTGGTCGGGTGTGGTGGCTCACACCTATAATCC CAGCACTTTGGGAGGCCAAGGTGGGCAGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATTAGCTTGGCATGGTGGCGGGTACCTGTAATCCCAGCTGCTTGGGAGTGTGAGGCAGGAGAATCGCTTGAACCTGGGAG ACCGAGGTTGCAGTGAGCTGAAACCGTGCCATTGCACTCCAGCTTAGGCAACAAGAGTGAAACTCTGTCTCAATCAATCCATCAATCAAT >51875_51875_2_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000321757_LARS_chr5_145557228_ENST00000394434_length(amino acids)=1195AA_BP=21 MVGREKELSIHFVPGSCRLVEERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCE FAVGYQRLKGKCCLFPFGLHCTGMPIKACADKLKREIELYGCPPDFPDEEEEEEETSVKTEDIIIKDKAKGKKSKAAAKAGSSKYQWGIM KSLGLSDEEIVKFSEAEHWLDYFPPLAIQDLKRMGLKVDWRRSFITTDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIYSPKDGQPCMDH DRQTGEGVGPQEYTLLKLKVLEPYPSKLSGLKGKNIFLVAATLRPETMFGQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTK DNGVVPVVKELMGEEILGASLSAPLTSYKVIYVLPMLTIKEDKGTGVVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPV IEIPGFGNLSAVTICDELKIQSQNDREKLAEAKEKIYLKGFYEGIMLVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDE CVVALCDQWYLDYGEENWKKQTSQCLKNLETFCEETRRNFEATLGWLQEHACSRTYGLGTHLPWDEQWLIESLSDSTIYMAFYTVAHLLQ GGNLHGQAESPLGIRPQQMTKEVWDYVFFKEAPFPKTQIAKEKLDQLKQEFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWP TAVRANGHLLLNSEKMSKSTGNFLTLTQAIDKFSADGMRLALADAGDTVEDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPAST FNDRVFASELNAGIIKTDQNYEKMMFKEALKTGFFEFQAAKDKYRELAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIM NASWPVAGPVNEVLIHSSQYLMEVTHDLRLRLKNYMMPAKGKKTDKQPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKV IASELGSMPELKKYMKKVMPFVAMIKENLEKMGPRILDLQLEFDEKAVLMENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVF RIEPGVSVSLVNPQPSNGHFSTKIEIRQGDNCDSIIRRLMKMNRGIKDLSKVKLMRFDDPLLGPRRVPVLGKEYTEKTPISEHAVFNVDL -------------------------------------------------------------- >51875_51875_3_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000321757_LARS_chr5_145557228_ENST00000545646_length(transcript)=3852nt_BP=202nt GCAGCGGAAGCCGGAAGCGGCGAGCGGGGTCGTTCTGGGCCTAGGGGAGGCGGGCCGAGGGCGTCTGAGCTGAGGCCCGCGTCGATCCTG GGTTGGAGGAGGTGGCGGCCGCTGAGGCTGCGGCGTGAAGACGGCGGGCATGGTGGGGCGGGAGAAAGAGCTCTCTATACACTTTGTTCC CGGGAGCTGTCGGCTGGTGGAGGAAAGAAAAGGAACAGCCAAAGTGGACTTTTTGAAGAAGATTGAGAAAGAAATCCAACAGAAATGGGA TACTGAGAGAGTGTTTGAGGTCAATGCATCTAATTTAGAGAAACAGACCAGCAAGGGCAAGTATTTTGTAACCTTCCCATATCCATATAT GAATGGACGCCTTCATTTGGGACACACGTTTTCTTTATCCAAATGTGAGTTTGCTGTAGGGTACCAGCGATTGAAAGGAAAATGTTGTCT GTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGAGTAAAGCTGCTGCTAAAGCTGGATCTTCTAAATACCAGTGGGGCATTAT GAAATCCCTTGGCCTGTCTGATGAAGAGATAGTAAAATTTTCTGAAGCAGAACATTGGCTTGATTATTTCCCGCCACTGGCTATTCAGGA TTTAAAAAGAATGGGTTTGAAGGTAGACTGGCGTCGTTCCTTCATCACCACTGATGTTAATCCTTACTATGATTCATTTGTCAGATGGCA ATTTTTAACATTAAGAGAAAGAAACAAAATTAAATTTGGGAAGCGGTATACAATTTACTCTCCGAAAGATGGACAGCCTTGCATGGATCA TGATAGACAAACTGGAGAGGGTGTTGGACCTCAGGAATATACTTTACTCAAATTGAAGGTGCTTGAGCCATACCCATCTAAATTAAGTGG CCTGAAAGGTAAAAATATTTTCTTGGTGGCTGCTACTCTCAGACCTGAGACCATGTTTGGGCAGACAAATTGTTGGGTTCGTCCTGATAT GAAGTACATTGGATTTGAGACGGTGAATGGTGATATATTCATCTGTACCCAAAAAGCAGCCAGGAATATGTCATACCAGGGCTTTACCAA AGACAATGGCGTGGTGCCTGTTGTTAAGGAATTAATGGGGGAGGAAATTCTTGGTGCATCACTTTCTGCACCTTTAACATCATACAAGGT GATCTATGTTCTCCCAATGCTAACTATTAAGGAGGATAAAGGCACTGGTGTGGTTACAAGTGTTCCTTCCGACTCCCCTGATGATATTGC TGCCCTCAGAGACTTGAAGAAAAAGCAAGCCTTACGAGCAAAATATGGAATTAGAGATGACATGGTCTTGCCATTTGAGCCGGTGCCAGT CATTGAAATCCCAGGTTTTGGAAATCTTTCTGCTGTAACCATTTGTGATGAGTTGAAAATTCAGAGCCAGAATGACCGGGAAAAACTTGC AGAAGCAAAGGAGAAGATATATCTAAAAGGATTTTATGAGGGTATCATGTTGGTGGATGGATTTAAAGGACAGAAGGTTCAAGATGTAAA GAAGACTATTCAGAAAAAGATGATTGACGCTGGAGATGCACTTATTTACATGGAACCAGAGAAACAAGTGATGTCCAGGTCGTCAGATGA ATGTGTTGTGGCTCTGTGTGACCAGTGGTACTTGGATTATGGAGAAGAGAATTGGAAGAAACAGACATCTCAGTGCTTGAAGAACCTGGA AACATTCTGTGAGGAGACCAGGAGGAATTTTGAAGCCACCTTAGGTTGGCTACAAGAACATGCTTGCTCAAGAACTTATGGTCTAGGCAC TCACCTGCCTTGGGATGAGCAGTGGCTGATTGAATCACTTTCTGACTCCACTATTTACATGGCATTTTACACAGTTGCACACCTATTGCA GGGGGGTAACTTGCATGGACAGGCAGAGTCTCCGCTGGGCATTAGACCGCAACAGATGACCAAGGAAGTTTGGGATTATGTTTTCTTCAA GGAGGCTCCATTTCCTAAGACTCAGATTGCAAAGGAAAAATTAGATCAGTTAAAGCAGGAGTTTGAATTCTGGTATCCTGTTGATCTTCG CGTCTCTGGCAAGGATCTTGTTCCAAATCATCTTTCATATTACCTTTATAATCATGTGGCTATGTGGCCGGAACAAAGTGACAAATGGCC TACAGCTGTGAGAGCAAATGGACATCTCCTCCTGAACTCTGAGAAGATGTCAAAATCCACAGGCAACTTCCTCACTTTGACCCAAGCTAT TGACAAATTTTCAGCAGATGGAATGCGTTTGGCTCTGGCTGATGCTGGTGACACTGTAGAAGATGCCAACTTTGTGGAAGCCATGGCAGA TGCAGGTATTCTCCGTCTGTACACCTGGGTAGAGTGGGTGAAAGAAATGGTTGCCAACTGGGACAGCCTAAGAAGTGGTCCTGCCAGCAC TTTCAATGATAGAGTTTTTGCCAGTGAATTGAATGCAGGAATTATAAAAACAGATCAAAACTATGAAAAGATGATGTTTAAAGAAGCTTT GAAAACAGGGTTTTTTGAGTTTCAGGCCGCAAAAGATAAGTACCGTGAATTGGCTGTGGAAGGGATGCACAGAGAACTTGTGTTCCGGTT TATTGAAGTTCAGACACTTCTCCTCGCTCCATTCTGTCCACATTTGTGTGAGCACATCTGGACACTCCTGGGAAAGCCTGACTCAATTAT GAATGCTTCATGGCCTGTGGCAGGTCCTGTTAATGAAGTTTTAATACACTCCTCACAGTATCTTATGGAAGTAACACATGACCTTAGACT ACGACTCAAGAACTATATGATGCCAGCTAAAGGGAAGAAGACTGACAAACAACCCCTGCAGAAGCCCTCACATTGCACCATCTATGTGGC AAAGAACTATCCACCTTGGCAACATACCACCCTGTCTGTTCTACGTAAACACTTTGAGGCCAATAACGGAAAACTGCCTGACAACAAAGT CATTGCTAGTGAACTAGGCAGTATGCCAGAACTGAAGAAATACATGAAGAAAGTCATGCCATTTGTTGCCATGATTAAGGAAAATCTGGA GAAGATGGGGCCTCGTATTCTGGATTTGCAATTAGAATTTGATGAAAAGGCTGTGCTTATGGAGAATATAGTCTATCTGACTAATTCGCT TGAGCTAGAACACATAGAAGTCAAGTTTGCCTCCGAAGCAGAAGATAAAATCAGGGAAGACTGCTGTCCTGGGAAACCACTTAATGTTTT TAGAATAGAACCTGGTGTGTCCGTTTCTCTGGTGAATCCCCAGCCATCCAATGGCCACTTCTCAACCAAAATTGAAATCAGGCAAGGAGA TAACTGTGATTCCATAATCAGGCGTTTAATGAAAATGAATCGAGGAATTAAAGACCTTTCCAAAGTGAAACTGATGAGATTTGATGATCC ACTGTTGGGGCCTCGACGAGTTCCTGTCCTGGGAAAGGAGTACACCGAGAAGACCCCCATTTCTGAGCATGCTGTTTTCAATGTGGACCT CATGAGCAAGAAAATTCATCTGACTGAGAATGGGATAAGGGTGGATATTGGCGATACAATAATCTATCTGGTTCATTAAACTCATGCACA TTGGAGATTTATCCTGGTTTCTTAGGAATACTACTACTCTGATTGTGTCTACTGATTGGCTATCAGAACCTTAGGCTGGACCTAAATAGA TTGATTTCATTTCTAACCATCCAATTCTGCATGTATTCATAATTCTATCAAGTCATCTTTGATTCCTGGACCTAATAAATTTTTTTTCCC >51875_51875_3_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000321757_LARS_chr5_145557228_ENST00000545646_length(amino acids)=1149AA_BP=21 MVGREKELSIHFVPGSCRLVEERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCE FAVGYQRLKGKCCLFPFGLHCTGMPIKSKAAAKAGSSKYQWGIMKSLGLSDEEIVKFSEAEHWLDYFPPLAIQDLKRMGLKVDWRRSFIT TDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIYSPKDGQPCMDHDRQTGEGVGPQEYTLLKLKVLEPYPSKLSGLKGKNIFLVAATLRPE TMFGQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTKDNGVVPVVKELMGEEILGASLSAPLTSYKVIYVLPMLTIKEDKGTG VVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPVIEIPGFGNLSAVTICDELKIQSQNDREKLAEAKEKIYLKGFYEGIM LVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDECVVALCDQWYLDYGEENWKKQTSQCLKNLETFCEETRRNFEATLGW LQEHACSRTYGLGTHLPWDEQWLIESLSDSTIYMAFYTVAHLLQGGNLHGQAESPLGIRPQQMTKEVWDYVFFKEAPFPKTQIAKEKLDQ LKQEFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWPTAVRANGHLLLNSEKMSKSTGNFLTLTQAIDKFSADGMRLALADAG DTVEDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPASTFNDRVFASELNAGIIKTDQNYEKMMFKEALKTGFFEFQAAKDKYRE LAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIMNASWPVAGPVNEVLIHSSQYLMEVTHDLRLRLKNYMMPAKGKKTDK QPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKVIASELGSMPELKKYMKKVMPFVAMIKENLEKMGPRILDLQLEFDEK AVLMENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVFRIEPGVSVSLVNPQPSNGHFSTKIEIRQGDNCDSIIRRLMKMNRGI -------------------------------------------------------------- >51875_51875_4_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000518095_LARS_chr5_145557228_ENST00000274562_length(transcript)=3775nt_BP=136nt GAGCTGAGGCCCGCGTCGATCCTGGGTTGGAGGAGGTGGCGGCCGCTGAGGCTGCGGCGTGAAGACGGCGGGCATGGTGGGGCGGGAGAA AGAGCTCTCTATACACTTTGTTCCCGGGAGCTGTCGGCTGGTGGAGGAAAGAAAAGGAACAGCCAAAGTGGACTTTTTGAAGAAGATTGA GAAAGAAATCCAACAGAAATGGGATACTGAGAGAGTGTTTGAGGTCAATGCATCTAATTTAGAGAAACAGACCAGCAAGGGCAAGTATTT TGTAACCTTCCCATATCCATATATGAATGGACGCCTTCATTTGGGACACACGTTTTCTTTATCCAAATGTGAGGCATGTGCTGATAAGTT GAAAAGAGAAATAGAGCTGTATGGTTGCCCCCCTGATTTTCCAGATGAAGAAGAGGAAGAGGAAGAAACCAGTGTTAAAACAGAAGATAT AATAATTAAGGATAAAGCTAAAGGAAAAAAGAGTAAAGCTGCTGCTAAAGCTGGATCTTCTAAATACCAGTGGGGCATTATGAAATCCCT TGGCCTGTCTGATGAAGAGATAGTAAAATTTTCTGAAGCAGAACATTGGCTTGATTATTTCCCGCCACTGGCTATTCAGGATTTAAAAAG AATGGGTTTGAAGGTAGACTGGCGTCGTTCCTTCATCACCACTGATGTTAATCCTTACTATGATTCATTTGTCAGATGGCAATTTTTAAC ATTAAGAGAAAGAAACAAAATTAAATTTGGGAAGCGGTATACAATTTACTCTCCGAAAGATGGACAGCCTTGCATGGATCATGATAGACA AACTGGAGAGGGTGTTGGACCTCAGGAATATACTTTACTCAAATTGAAGGTGCTTGAGCCATACCCATCTAAATTAAGTGGCCTGAAAGG TAAAAATATTTTCTTGGTGGCTGCTACTCTCAGACCTGAGACCATGTTTGGGCAGACAAATTGTTGGGTTCGTCCTGATATGAAGTACAT TGGATTTGAGACGGTGAATGGTGATATATTCATCTGTACCCAAAAAGCAGCCAGGAATATGTCATACCAGGGCTTTACCAAAGACAATGG CGTGGTGCCTGTTGTTAAGGAATTAATGGGGGAGGAAATTCTTGGTGCATCACTTTCTGCACCTTTAACATCATACAAGGTGATCTATGT TCTCCCAATGCTAACTATTAAGGAGGATAAAGGCACTGGTGTGGTTACAAGTGTTCCTTCCGACTCCCCTGATGATATTGCTGCCCTCAG AGACTTGAAGAAAAAGCAAGCCTTACGAGCAAAATATGGAATTAGAGATGACATGGTCTTGCCATTTGAGCCGGTGCCAGTCATTGAAAT CCCAGGTTTTGGAAATCTTTCTGCTGTAACCATTTGTGATGAGTTGAAAATTCAGAGCCAGAATGACCGGGAAAAACTTGCAGAAGCAAA GGAGAAGATATATCTAAAAGGATTTTATGAGGGTATCATGTTGGTGGATGGATTTAAAGGACAGAAGGTTCAAGATGTAAAGAAGACTAT TCAGAAAAAGATGATTGACGCTGGAGATGCACTTATTTACATGGAACCAGAGAAACAAGTGATGTCCAGGTCGTCAGATGAATGTGTTGT GGCTCTGTGTGACCAGTGGTACTTGGATTATGGAGAAGAGAATTGGAAGAAACAGACATCTCAGTGCTTGAAGAACCTGGAAACATTCTG TGAGGAGACCAGGAGGAATTTTGAAGCCACCTTAGGTTGGCTACAAGAACATGCTTGCTCAAGAACTTATGGTCTAGGCACTCACCTGCC TTGGGATGAGCAGTGGCTGATTGAATCACTTTCTGACTCCACTATTTACATGGCATTTTACACAGTTGCACACCTATTGCAGGGGGGTAA CTTGCATGGACAGGCAGAGTCTCCGCTGGGCATTAGACCGCAACAGATGACCAAGGAAGTTTGGGATTATGTTTTCTTCAAGGAGGCTCC ATTTCCTAAGACTCAGATTGCAAAGGAAAAATTAGATCAGTTAAAGCAGGAGTTTGAATTCTGGTATCCTGTTGATCTTCGCGTCTCTGG CAAGGATCTTGTTCCAAATCATCTTTCATATTACCTTTATAATCATGTGGCTATGTGGCCGGAACAAAGTGACAAATGGCCTACAGCTGT GAGAGCAAATGGACATCTCCTCCTGAACTCTGAGAAGATGTCAAAATCCACAGGCAACTTCCTCACTTTGACCCAAGCTATTGACAAATT TTCAGCAGATGGAATGCGTTTGGCTCTGGCTGATGCTGGTGACACTGTAGAAGATGCCAACTTTGTGGAAGCCATGGCAGATGCAGGTAT TCTCCGTCTGTACACCTGGGTAGAGTGGGTGAAAGAAATGGTTGCCAACTGGGACAGCCTAAGAAGTGGTCCTGCCAGCACTTTCAATGA TAGAGTTTTTGCCAGTGAATTGAATGCAGGAATTATAAAAACAGATCAAAACTATGAAAAGATGATGTTTAAAGAAGCTTTGAAAACAGG GTTTTTTGAGTTTCAGGCCGCAAAAGATAAGTACCGTGAATTGGCTGTGGAAGGGATGCACAGAGAACTTGTGTTCCGGTTTATTGAAGT TCAGACACTTCTCCTCGCTCCATTCTGTCCACATTTGTGTGAGCACATCTGGACACTCCTGGGAAAGCCTGACTCAATTATGAATGCTTC ATGGCCTGTGGCAGGTCCTGTTAATGAAGTTTTAATACACTCCTCACAGTATCTTATGGAAGTAACACATGACCTTAGACTACGACTCAA GAACTATATGATGCCAGCTAAAGGGAAGAAGACTGACAAACAACCCCTGCAGAAGCCCTCACATTGCACCATCTATGTGGCAAAGAACTA TCCACCTTGGCAACATACCACCCTGTCTGTTCTACGTAAACACTTTGAGGCCAATAACGGAAAACTGCCTGACAACAAAGTCATTGCTAG TGAACTAGGCAGTATGCCAGAACTGAAGAAATACATGAAGAAAGTCATGCCATTTGTTGCCATGATTAAGGAAAATCTGGAGAAGATGGG GCCTCGTATTCTGGATTTGCAATTAGAATTTGATGAAAAGGCTGTGCTTATGGAGAATATAGTCTATCTGACTAATTCGCTTGAGCTAGA ACACATAGAAGTCAAGTTTGCCTCCGAAGCAGAAGATAAAATCAGGGAAGACTGCTGTCCTGGGAAACCACTTAATGTTTTTAGAATAGA ACCTGGTGTGTCCGTTTCTCTGGTGAATCCCCAGCCATCCAATGGCCACTTCTCAACCAAAATTGAAATCAGGCAAGGAGATAACTGTGA TTCCATAATCAGGCGTTTAATGAAAATGAATCGAGGAATTAAAGACCTTTCCAAAGTGAAACTGATGAGATTTGATGATCCACTGTTGGG GCCTCGACGAGTTCCTGTCCTGGGAAAGGAGTACACCGAGAAGACCCCCATTTCTGAGCATGCTGTTTTCAATGTGGACCTCATGAGCAA GAAAATTCATCTGACTGAGAATGGGATAAGGGTGGATATTGGCGATACAATAATCTATCTGGTTCATTAAACTCATGCACATTGGAGATT TATCCTGGTTTCTTAGGAATACTACTACTCTGATTGTGTCTACTGATTGGCTATCAGAACCTTAGGCTGGACCTAAATAGATTGATTTCA >51875_51875_4_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000518095_LARS_chr5_145557228_ENST00000274562_length(amino acids)=1168AA_BP=21 MVGREKELSIHFVPGSCRLVEERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCE ACADKLKREIELYGCPPDFPDEEEEEEETSVKTEDIIIKDKAKGKKSKAAAKAGSSKYQWGIMKSLGLSDEEIVKFSEAEHWLDYFPPLA IQDLKRMGLKVDWRRSFITTDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIYSPKDGQPCMDHDRQTGEGVGPQEYTLLKLKVLEPYPSK LSGLKGKNIFLVAATLRPETMFGQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTKDNGVVPVVKELMGEEILGASLSAPLTS YKVIYVLPMLTIKEDKGTGVVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPVIEIPGFGNLSAVTICDELKIQSQNDRE KLAEAKEKIYLKGFYEGIMLVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDECVVALCDQWYLDYGEENWKKQTSQCLK NLETFCEETRRNFEATLGWLQEHACSRTYGLGTHLPWDEQWLIESLSDSTIYMAFYTVAHLLQGGNLHGQAESPLGIRPQQMTKEVWDYV FFKEAPFPKTQIAKEKLDQLKQEFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWPTAVRANGHLLLNSEKMSKSTGNFLTLT QAIDKFSADGMRLALADAGDTVEDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPASTFNDRVFASELNAGIIKTDQNYEKMMFK EALKTGFFEFQAAKDKYRELAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIMNASWPVAGPVNEVLIHSSQYLMEVTHD LRLRLKNYMMPAKGKKTDKQPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKVIASELGSMPELKKYMKKVMPFVAMIKE NLEKMGPRILDLQLEFDEKAVLMENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVFRIEPGVSVSLVNPQPSNGHFSTKIEIR -------------------------------------------------------------- >51875_51875_5_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000518095_LARS_chr5_145557228_ENST00000394434_length(transcript)=4729nt_BP=136nt GAGCTGAGGCCCGCGTCGATCCTGGGTTGGAGGAGGTGGCGGCCGCTGAGGCTGCGGCGTGAAGACGGCGGGCATGGTGGGGCGGGAGAA AGAGCTCTCTATACACTTTGTTCCCGGGAGCTGTCGGCTGGTGGAGGAAAGAAAAGGAACAGCCAAAGTGGACTTTTTGAAGAAGATTGA GAAAGAAATCCAACAGAAATGGGATACTGAGAGAGTGTTTGAGGTCAATGCATCTAATTTAGAGAAACAGACCAGCAAGGGCAAGTATTT TGTAACCTTCCCATATCCATATATGAATGGACGCCTTCATTTGGGACACACGTTTTCTTTATCCAAATGTGAGTTTGCTGTAGGGTACCA GCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGGCATGTGCTGATAAGTTGAAAAGAGA AATAGAGCTGTATGGTTGCCCCCCTGATTTTCCAGATGAAGAAGAGGAAGAGGAAGAAACCAGTGTTAAAACAGAAGATATAATAATTAA GGATAAAGCTAAAGGAAAAAAGAGTAAAGCTGCTGCTAAAGCTGGATCTTCTAAATACCAGTGGGGCATTATGAAATCCCTTGGCCTGTC TGATGAAGAGATAGTAAAATTTTCTGAAGCAGAACATTGGCTTGATTATTTCCCGCCACTGGCTATTCAGGATTTAAAAAGAATGGGTTT GAAGGTAGACTGGCGTCGTTCCTTCATCACCACTGATGTTAATCCTTACTATGATTCATTTGTCAGATGGCAATTTTTAACATTAAGAGA AAGAAACAAAATTAAATTTGGGAAGCGGTATACAATTTACTCTCCGAAAGATGGACAGCCTTGCATGGATCATGATAGACAAACTGGAGA GGGTGTTGGACCTCAGGAATATACTTTACTCAAATTGAAGGTGCTTGAGCCATACCCATCTAAATTAAGTGGCCTGAAAGGTAAAAATAT TTTCTTGGTGGCTGCTACTCTCAGACCTGAGACCATGTTTGGGCAGACAAATTGTTGGGTTCGTCCTGATATGAAGTACATTGGATTTGA GACGGTGAATGGTGATATATTCATCTGTACCCAAAAAGCAGCCAGGAATATGTCATACCAGGGCTTTACCAAAGACAATGGCGTGGTGCC TGTTGTTAAGGAATTAATGGGGGAGGAAATTCTTGGTGCATCACTTTCTGCACCTTTAACATCATACAAGGTGATCTATGTTCTCCCAAT GCTAACTATTAAGGAGGATAAAGGCACTGGTGTGGTTACAAGTGTTCCTTCCGACTCCCCTGATGATATTGCTGCCCTCAGAGACTTGAA GAAAAAGCAAGCCTTACGAGCAAAATATGGAATTAGAGATGACATGGTCTTGCCATTTGAGCCGGTGCCAGTCATTGAAATCCCAGGTTT TGGAAATCTTTCTGCTGTAACCATTTGTGATGAGTTGAAAATTCAGAGCCAGAATGACCGGGAAAAACTTGCAGAAGCAAAGGAGAAGAT ATATCTAAAAGGATTTTATGAGGGTATCATGTTGGTGGATGGATTTAAAGGACAGAAGGTTCAAGATGTAAAGAAGACTATTCAGAAAAA GATGATTGACGCTGGAGATGCACTTATTTACATGGAACCAGAGAAACAAGTGATGTCCAGGTCGTCAGATGAATGTGTTGTGGCTCTGTG TGACCAGTGGTACTTGGATTATGGAGAAGAGAATTGGAAGAAACAGACATCTCAGTGCTTGAAGAACCTGGAAACATTCTGTGAGGAGAC CAGGAGGAATTTTGAAGCCACCTTAGGTTGGCTACAAGAACATGCTTGCTCAAGAACTTATGGTCTAGGCACTCACCTGCCTTGGGATGA GCAGTGGCTGATTGAATCACTTTCTGACTCCACTATTTACATGGCATTTTACACAGTTGCACACCTATTGCAGGGGGGTAACTTGCATGG ACAGGCAGAGTCTCCGCTGGGCATTAGACCGCAACAGATGACCAAGGAAGTTTGGGATTATGTTTTCTTCAAGGAGGCTCCATTTCCTAA GACTCAGATTGCAAAGGAAAAATTAGATCAGTTAAAGCAGGAGTTTGAATTCTGGTATCCTGTTGATCTTCGCGTCTCTGGCAAGGATCT TGTTCCAAATCATCTTTCATATTACCTTTATAATCATGTGGCTATGTGGCCGGAACAAAGTGACAAATGGCCTACAGCTGTGAGAGCAAA TGGACATCTCCTCCTGAACTCTGAGAAGATGTCAAAATCCACAGGCAACTTCCTCACTTTGACCCAAGCTATTGACAAATTTTCAGCAGA TGGAATGCGTTTGGCTCTGGCTGATGCTGGTGACACTGTAGAAGATGCCAACTTTGTGGAAGCCATGGCAGATGCAGGTATTCTCCGTCT GTACACCTGGGTAGAGTGGGTGAAAGAAATGGTTGCCAACTGGGACAGCCTAAGAAGTGGTCCTGCCAGCACTTTCAATGATAGAGTTTT TGCCAGTGAATTGAATGCAGGAATTATAAAAACAGATCAAAACTATGAAAAGATGATGTTTAAAGAAGCTTTGAAAACAGGGTTTTTTGA GTTTCAGGCCGCAAAAGATAAGTACCGTGAATTGGCTGTGGAAGGGATGCACAGAGAACTTGTGTTCCGGTTTATTGAAGTTCAGACACT TCTCCTCGCTCCATTCTGTCCACATTTGTGTGAGCACATCTGGACACTCCTGGGAAAGCCTGACTCAATTATGAATGCTTCATGGCCTGT GGCAGGTCCTGTTAATGAAGTTTTAATACACTCCTCACAGTATCTTATGGAAGTAACACATGACCTTAGACTACGACTCAAGAACTATAT GATGCCAGCTAAAGGGAAGAAGACTGACAAACAACCCCTGCAGAAGCCCTCACATTGCACCATCTATGTGGCAAAGAACTATCCACCTTG GCAACATACCACCCTGTCTGTTCTACGTAAACACTTTGAGGCCAATAACGGAAAACTGCCTGACAACAAAGTCATTGCTAGTGAACTAGG CAGTATGCCAGAACTGAAGAAATACATGAAGAAAGTCATGCCATTTGTTGCCATGATTAAGGAAAATCTGGAGAAGATGGGGCCTCGTAT TCTGGATTTGCAATTAGAATTTGATGAAAAGGCTGTGCTTATGGAGAATATAGTCTATCTGACTAATTCGCTTGAGCTAGAACACATAGA AGTCAAGTTTGCCTCCGAAGCAGAAGATAAAATCAGGGAAGACTGCTGTCCTGGGAAACCACTTAATGTTTTTAGAATAGAACCTGGTGT GTCCGTTTCTCTGGTGAATCCCCAGCCATCCAATGGCCACTTCTCAACCAAAATTGAAATCAGGCAAGGAGATAACTGTGATTCCATAAT CAGGCGTTTAATGAAAATGAATCGAGGAATTAAAGACCTTTCCAAAGTGAAACTGATGAGATTTGATGATCCACTGTTGGGGCCTCGACG AGTTCCTGTCCTGGGAAAGGAGTACACCGAGAAGACCCCCATTTCTGAGCATGCTGTTTTCAATGTGGACCTCATGAGCAAGAAAATTCA TCTGACTGAGAATGGGATAAGGGTGGATATTGGCGATACAATAATCTATCTGGTTCATTAAACTCATGCACATTGGAGATTTATCCTGGT TTCTTAGGAATACTACTACTCTGATTGTGTCTACTGATTGGCTATCAGAACCTTAGGCTGGACCTAAATAGATTGATTTCATTTCTAACC ATCCAATTCTGCATGTATTCATAATTCTATCAAGTCATCTTTGATTCCTGGACCTAATAAATTTTTTTTCCCTTTCTTTGGGTGTCCAAG AGAAATGGTTTTTGCCAAACTCTTTTTAAAAAACAAATTGTTGCTATTTCCTAGAAGTTTCTGGTTTTTAAGATGAACATAAAAGTGTCA GTATGCTTCTTTTATGAGGTGTACTTTATACTTTGATGAAGGCTAAGGTGTACCTAACAGCTTTTTATAGTATATTCATTTATGGAGTTA GCTGTATTTTTTTTTAAAAAAGAAAAGTAGTAAATTAGCAGCTTTTTTTTTTAAATGAAGAGAACTTCATGATGATTTAAAAGAACTAAT GAGAATATTTTGACTTGACTTCAATTACTAAGTATTTTGTATAAAGAACAAATAGGTCCTGCATTTTATAAGACTTTTTAAAGCTTTAAT TATTCAACTAAGAACCAATAATGGCTTCTTCAAGGCTAATATCAATAGTTTATAAGCAGTATATTTCACCTACACTAAATATGGGCATTT TAAAAGAAGATTCCCCCCTTCCCCCCCAGAAATCTGCATTTACTAAATTTGTCTTAAGTCCAATTGTGTTTAAAGGTCATGCTGGTCGGG TGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGTCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAAC ATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTTGGCATGGTGGCGGGTACCTGTAATCCCAGCTGCTTGGGAGTGTGAGGC AGGAGAATCGCTTGAACCTGGGAGACCGAGGTTGCAGTGAGCTGAAACCGTGCCATTGCACTCCAGCTTAGGCAACAAGAGTGAAACTCT >51875_51875_5_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000518095_LARS_chr5_145557228_ENST00000394434_length(amino acids)=1195AA_BP=21 MVGREKELSIHFVPGSCRLVEERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCE FAVGYQRLKGKCCLFPFGLHCTGMPIKACADKLKREIELYGCPPDFPDEEEEEEETSVKTEDIIIKDKAKGKKSKAAAKAGSSKYQWGIM KSLGLSDEEIVKFSEAEHWLDYFPPLAIQDLKRMGLKVDWRRSFITTDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIYSPKDGQPCMDH DRQTGEGVGPQEYTLLKLKVLEPYPSKLSGLKGKNIFLVAATLRPETMFGQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTK DNGVVPVVKELMGEEILGASLSAPLTSYKVIYVLPMLTIKEDKGTGVVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPV IEIPGFGNLSAVTICDELKIQSQNDREKLAEAKEKIYLKGFYEGIMLVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDE CVVALCDQWYLDYGEENWKKQTSQCLKNLETFCEETRRNFEATLGWLQEHACSRTYGLGTHLPWDEQWLIESLSDSTIYMAFYTVAHLLQ GGNLHGQAESPLGIRPQQMTKEVWDYVFFKEAPFPKTQIAKEKLDQLKQEFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWP TAVRANGHLLLNSEKMSKSTGNFLTLTQAIDKFSADGMRLALADAGDTVEDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPAST FNDRVFASELNAGIIKTDQNYEKMMFKEALKTGFFEFQAAKDKYRELAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIM NASWPVAGPVNEVLIHSSQYLMEVTHDLRLRLKNYMMPAKGKKTDKQPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKV IASELGSMPELKKYMKKVMPFVAMIKENLEKMGPRILDLQLEFDEKAVLMENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVF RIEPGVSVSLVNPQPSNGHFSTKIEIRQGDNCDSIIRRLMKMNRGIKDLSKVKLMRFDDPLLGPRRVPVLGKEYTEKTPISEHAVFNVDL -------------------------------------------------------------- >51875_51875_6_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000518095_LARS_chr5_145557228_ENST00000545646_length(transcript)=3786nt_BP=136nt GAGCTGAGGCCCGCGTCGATCCTGGGTTGGAGGAGGTGGCGGCCGCTGAGGCTGCGGCGTGAAGACGGCGGGCATGGTGGGGCGGGAGAA AGAGCTCTCTATACACTTTGTTCCCGGGAGCTGTCGGCTGGTGGAGGAAAGAAAAGGAACAGCCAAAGTGGACTTTTTGAAGAAGATTGA GAAAGAAATCCAACAGAAATGGGATACTGAGAGAGTGTTTGAGGTCAATGCATCTAATTTAGAGAAACAGACCAGCAAGGGCAAGTATTT TGTAACCTTCCCATATCCATATATGAATGGACGCCTTCATTTGGGACACACGTTTTCTTTATCCAAATGTGAGTTTGCTGTAGGGTACCA GCGATTGAAAGGAAAATGTTGTCTGTTTCCCTTTGGCCTGCACTGTACTGGAATGCCTATTAAGAGTAAAGCTGCTGCTAAAGCTGGATC TTCTAAATACCAGTGGGGCATTATGAAATCCCTTGGCCTGTCTGATGAAGAGATAGTAAAATTTTCTGAAGCAGAACATTGGCTTGATTA TTTCCCGCCACTGGCTATTCAGGATTTAAAAAGAATGGGTTTGAAGGTAGACTGGCGTCGTTCCTTCATCACCACTGATGTTAATCCTTA CTATGATTCATTTGTCAGATGGCAATTTTTAACATTAAGAGAAAGAAACAAAATTAAATTTGGGAAGCGGTATACAATTTACTCTCCGAA AGATGGACAGCCTTGCATGGATCATGATAGACAAACTGGAGAGGGTGTTGGACCTCAGGAATATACTTTACTCAAATTGAAGGTGCTTGA GCCATACCCATCTAAATTAAGTGGCCTGAAAGGTAAAAATATTTTCTTGGTGGCTGCTACTCTCAGACCTGAGACCATGTTTGGGCAGAC AAATTGTTGGGTTCGTCCTGATATGAAGTACATTGGATTTGAGACGGTGAATGGTGATATATTCATCTGTACCCAAAAAGCAGCCAGGAA TATGTCATACCAGGGCTTTACCAAAGACAATGGCGTGGTGCCTGTTGTTAAGGAATTAATGGGGGAGGAAATTCTTGGTGCATCACTTTC TGCACCTTTAACATCATACAAGGTGATCTATGTTCTCCCAATGCTAACTATTAAGGAGGATAAAGGCACTGGTGTGGTTACAAGTGTTCC TTCCGACTCCCCTGATGATATTGCTGCCCTCAGAGACTTGAAGAAAAAGCAAGCCTTACGAGCAAAATATGGAATTAGAGATGACATGGT CTTGCCATTTGAGCCGGTGCCAGTCATTGAAATCCCAGGTTTTGGAAATCTTTCTGCTGTAACCATTTGTGATGAGTTGAAAATTCAGAG CCAGAATGACCGGGAAAAACTTGCAGAAGCAAAGGAGAAGATATATCTAAAAGGATTTTATGAGGGTATCATGTTGGTGGATGGATTTAA AGGACAGAAGGTTCAAGATGTAAAGAAGACTATTCAGAAAAAGATGATTGACGCTGGAGATGCACTTATTTACATGGAACCAGAGAAACA AGTGATGTCCAGGTCGTCAGATGAATGTGTTGTGGCTCTGTGTGACCAGTGGTACTTGGATTATGGAGAAGAGAATTGGAAGAAACAGAC ATCTCAGTGCTTGAAGAACCTGGAAACATTCTGTGAGGAGACCAGGAGGAATTTTGAAGCCACCTTAGGTTGGCTACAAGAACATGCTTG CTCAAGAACTTATGGTCTAGGCACTCACCTGCCTTGGGATGAGCAGTGGCTGATTGAATCACTTTCTGACTCCACTATTTACATGGCATT TTACACAGTTGCACACCTATTGCAGGGGGGTAACTTGCATGGACAGGCAGAGTCTCCGCTGGGCATTAGACCGCAACAGATGACCAAGGA AGTTTGGGATTATGTTTTCTTCAAGGAGGCTCCATTTCCTAAGACTCAGATTGCAAAGGAAAAATTAGATCAGTTAAAGCAGGAGTTTGA ATTCTGGTATCCTGTTGATCTTCGCGTCTCTGGCAAGGATCTTGTTCCAAATCATCTTTCATATTACCTTTATAATCATGTGGCTATGTG GCCGGAACAAAGTGACAAATGGCCTACAGCTGTGAGAGCAAATGGACATCTCCTCCTGAACTCTGAGAAGATGTCAAAATCCACAGGCAA CTTCCTCACTTTGACCCAAGCTATTGACAAATTTTCAGCAGATGGAATGCGTTTGGCTCTGGCTGATGCTGGTGACACTGTAGAAGATGC CAACTTTGTGGAAGCCATGGCAGATGCAGGTATTCTCCGTCTGTACACCTGGGTAGAGTGGGTGAAAGAAATGGTTGCCAACTGGGACAG CCTAAGAAGTGGTCCTGCCAGCACTTTCAATGATAGAGTTTTTGCCAGTGAATTGAATGCAGGAATTATAAAAACAGATCAAAACTATGA AAAGATGATGTTTAAAGAAGCTTTGAAAACAGGGTTTTTTGAGTTTCAGGCCGCAAAAGATAAGTACCGTGAATTGGCTGTGGAAGGGAT GCACAGAGAACTTGTGTTCCGGTTTATTGAAGTTCAGACACTTCTCCTCGCTCCATTCTGTCCACATTTGTGTGAGCACATCTGGACACT CCTGGGAAAGCCTGACTCAATTATGAATGCTTCATGGCCTGTGGCAGGTCCTGTTAATGAAGTTTTAATACACTCCTCACAGTATCTTAT GGAAGTAACACATGACCTTAGACTACGACTCAAGAACTATATGATGCCAGCTAAAGGGAAGAAGACTGACAAACAACCCCTGCAGAAGCC CTCACATTGCACCATCTATGTGGCAAAGAACTATCCACCTTGGCAACATACCACCCTGTCTGTTCTACGTAAACACTTTGAGGCCAATAA CGGAAAACTGCCTGACAACAAAGTCATTGCTAGTGAACTAGGCAGTATGCCAGAACTGAAGAAATACATGAAGAAAGTCATGCCATTTGT TGCCATGATTAAGGAAAATCTGGAGAAGATGGGGCCTCGTATTCTGGATTTGCAATTAGAATTTGATGAAAAGGCTGTGCTTATGGAGAA TATAGTCTATCTGACTAATTCGCTTGAGCTAGAACACATAGAAGTCAAGTTTGCCTCCGAAGCAGAAGATAAAATCAGGGAAGACTGCTG TCCTGGGAAACCACTTAATGTTTTTAGAATAGAACCTGGTGTGTCCGTTTCTCTGGTGAATCCCCAGCCATCCAATGGCCACTTCTCAAC CAAAATTGAAATCAGGCAAGGAGATAACTGTGATTCCATAATCAGGCGTTTAATGAAAATGAATCGAGGAATTAAAGACCTTTCCAAAGT GAAACTGATGAGATTTGATGATCCACTGTTGGGGCCTCGACGAGTTCCTGTCCTGGGAAAGGAGTACACCGAGAAGACCCCCATTTCTGA GCATGCTGTTTTCAATGTGGACCTCATGAGCAAGAAAATTCATCTGACTGAGAATGGGATAAGGGTGGATATTGGCGATACAATAATCTA TCTGGTTCATTAAACTCATGCACATTGGAGATTTATCCTGGTTTCTTAGGAATACTACTACTCTGATTGTGTCTACTGATTGGCTATCAG AACCTTAGGCTGGACCTAAATAGATTGATTTCATTTCTAACCATCCAATTCTGCATGTATTCATAATTCTATCAAGTCATCTTTGATTCC TGGACCTAATAAATTTTTTTTCCCTTTCTTTGGGTGTCCAAGAGAAATGGTTTTTGCCAAACTCTTTTTAAAAAACAAATTGTTGCTATT >51875_51875_6_MAT2B-LARS_MAT2B_chr5_162932755_ENST00000518095_LARS_chr5_145557228_ENST00000545646_length(amino acids)=1149AA_BP=21 MVGREKELSIHFVPGSCRLVEERKGTAKVDFLKKIEKEIQQKWDTERVFEVNASNLEKQTSKGKYFVTFPYPYMNGRLHLGHTFSLSKCE FAVGYQRLKGKCCLFPFGLHCTGMPIKSKAAAKAGSSKYQWGIMKSLGLSDEEIVKFSEAEHWLDYFPPLAIQDLKRMGLKVDWRRSFIT TDVNPYYDSFVRWQFLTLRERNKIKFGKRYTIYSPKDGQPCMDHDRQTGEGVGPQEYTLLKLKVLEPYPSKLSGLKGKNIFLVAATLRPE TMFGQTNCWVRPDMKYIGFETVNGDIFICTQKAARNMSYQGFTKDNGVVPVVKELMGEEILGASLSAPLTSYKVIYVLPMLTIKEDKGTG VVTSVPSDSPDDIAALRDLKKKQALRAKYGIRDDMVLPFEPVPVIEIPGFGNLSAVTICDELKIQSQNDREKLAEAKEKIYLKGFYEGIM LVDGFKGQKVQDVKKTIQKKMIDAGDALIYMEPEKQVMSRSSDECVVALCDQWYLDYGEENWKKQTSQCLKNLETFCEETRRNFEATLGW LQEHACSRTYGLGTHLPWDEQWLIESLSDSTIYMAFYTVAHLLQGGNLHGQAESPLGIRPQQMTKEVWDYVFFKEAPFPKTQIAKEKLDQ LKQEFEFWYPVDLRVSGKDLVPNHLSYYLYNHVAMWPEQSDKWPTAVRANGHLLLNSEKMSKSTGNFLTLTQAIDKFSADGMRLALADAG DTVEDANFVEAMADAGILRLYTWVEWVKEMVANWDSLRSGPASTFNDRVFASELNAGIIKTDQNYEKMMFKEALKTGFFEFQAAKDKYRE LAVEGMHRELVFRFIEVQTLLLAPFCPHLCEHIWTLLGKPDSIMNASWPVAGPVNEVLIHSSQYLMEVTHDLRLRLKNYMMPAKGKKTDK QPLQKPSHCTIYVAKNYPPWQHTTLSVLRKHFEANNGKLPDNKVIASELGSMPELKKYMKKVMPFVAMIKENLEKMGPRILDLQLEFDEK AVLMENIVYLTNSLELEHIEVKFASEAEDKIREDCCPGKPLNVFRIEPGVSVSLVNPQPSNGHFSTKIEIRQGDNCDSIIRRLMKMNRGI -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for MAT2B-LARS |
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 MAT2B-LARS |
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 MAT2B-LARS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |