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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:TSC2-COX5B (FusionGDB2 ID:HG7249TG1329) |
Fusion Gene Summary for TSC2-COX5B |
Fusion gene summary |
Fusion gene information | Fusion gene name: TSC2-COX5B | Fusion gene ID: hg7249tg1329 | Hgene | Tgene | Gene symbol | TSC2 | COX5B | Gene ID | 7249 | 1329 |
Gene name | TSC complex subunit 2 | cytochrome c oxidase subunit 5B | |
Synonyms | LAM|PPP1R160|TSC4 | COXVB | |
Cytomap | ('TSC2')('COX5B') 16p13.3 | 2q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | tuberinprotein phosphatase 1, regulatory subunit 160tuberous sclerosis 2 protein | cytochrome c oxidase subunit 5B, mitochondrialcytochrome c oxidase polypeptide VB, mitochondrialcytochrome c oxidase subunit Vbepididymis secretory sperm binding protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | P10606 | |
Ensembl transtripts involved in fusion gene | ENST00000219476, ENST00000350773, ENST00000353929, ENST00000382538, ENST00000401874, ENST00000439673, ENST00000568454, ENST00000568366, | ||
Fusion gene scores | * DoF score | 10 X 12 X 6=720 | 5 X 5 X 4=100 |
# samples | 12 | 6 | |
** MAII score | log2(12/720*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: TSC2 [Title/Abstract] AND COX5B [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | TSC2(2130378)-COX5B(98263530), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | TSC2-COX5B 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. TSC2-COX5B 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. TSC2-COX5B 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. TSC2-COX5B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Fusion gene breakpoints across TSC2 (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 COX5B (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-A4HB-01A | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
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Fusion Gene ORF analysis for TSC2-COX5B |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-3UTR | ENST00000219476 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
5CDS-3UTR | ENST00000350773 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
5CDS-3UTR | ENST00000353929 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
5CDS-3UTR | ENST00000382538 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
5CDS-3UTR | ENST00000401874 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
5CDS-3UTR | ENST00000439673 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
5CDS-3UTR | ENST00000568454 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000219476 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000350773 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000353929 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000382538 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000401874 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000439673 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
In-frame | ENST00000568454 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
intron-3CDS | ENST00000568366 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
intron-3UTR | ENST00000568366 | ENST00000464949 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + |
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) |
ENST00000219476 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 4802 | 4240 | 57 | 4526 | 1489 |
ENST00000382538 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 3991 | 3429 | 89 | 3715 | 1208 |
ENST00000401874 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 4146 | 3584 | 106 | 3870 | 1254 |
ENST00000353929 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 4149 | 3587 | 106 | 3873 | 1255 |
ENST00000439673 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 4013 | 3451 | 81 | 3737 | 1218 |
ENST00000350773 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 4247 | 3685 | 75 | 3971 | 1298 |
ENST00000568454 | TSC2 | chr16 | 2130378 | + | ENST00000258424 | COX5B | chr2 | 98263530 | + | 4141 | 3579 | 59 | 3865 | 1268 |
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 |
ENST00000219476 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.004161953 | 0.99583805 |
ENST00000382538 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.001962621 | 0.9980374 |
ENST00000401874 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.002113369 | 0.9978866 |
ENST00000353929 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.001968055 | 0.9980319 |
ENST00000439673 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.001641475 | 0.99835855 |
ENST00000350773 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.002593468 | 0.99740654 |
ENST00000568454 | ENST00000258424 | TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263530 | + | 0.002294367 | 0.99770564 |
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Fusion Genomic Features for TSC2-COX5B |
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) |
TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263529 | + | 0.003655506 | 0.9963445 |
TSC2 | chr16 | 2130378 | + | COX5B | chr2 | 98263529 | + | 0.003655506 | 0.9963445 |
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 TSC2-COX5B |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr16:2130378/chr2:98263530) - 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 |
. | COX5B |
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: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P04037}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | TSC2 | chr16:2130378 | chr2:98263530 | ENST00000219476 | + | 30 | 42 | 1531_1758 | 1203 | 1808.0 | Domain | Rap-GAP |
Hgene | TSC2 | chr16:2130378 | chr2:98263530 | ENST00000350773 | + | 30 | 41 | 1531_1758 | 1203 | 1785.0 | Domain | Rap-GAP |
Hgene | TSC2 | chr16:2130378 | chr2:98263530 | ENST00000353929 | + | 29 | 41 | 1531_1758 | 1160 | 1765.0 | Domain | Rap-GAP |
Hgene | TSC2 | chr16:2130378 | chr2:98263530 | ENST00000401874 | + | 29 | 40 | 1531_1758 | 1159 | 1741.0 | Domain | Rap-GAP |
Hgene | TSC2 | chr16:2130378 | chr2:98263530 | ENST00000439673 | + | 28 | 39 | 1531_1758 | 1123 | 1705.0 | Domain | Rap-GAP |
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Fusion Gene Sequence for TSC2-COX5B |
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. |
>94517_94517_1_TSC2-COX5B_TSC2_chr16_2130378_ENST00000219476_COX5B_chr2_98263530_ENST00000258424_length(transcript)=4802nt_BP=4240nt CGTTTTCTTGCTTGGGGCGAAAGGGGGCAGCGGAGCGGAGCGCCCGAAACCCAGCCCCTGCGGACCGCAATCTTTGGGAAAAAGGCGCAA GGTGGGAACGCAGGGCCGCACGTGGGAACCGTTCGCGGCTGCCGGGTTTGCAGCCCCTGCCCGCGCAGCTGGGAGCCGCAGGAGGCGGCC CGGGACTCCAGCCTGCAGCCCCTATCCCGCCTCCTCCCACGCTCCAGCCACGGCGCGGCGCTACCTGCTGCAGCCTCTCTTCTCCGGAGA GGCCCGGGCTCCTCCCTACACCCCCGCGGCCCAGCCCCGGGTCCCAGGCTCCGGCTCCGGGTCAGCATCCTCGCGCTCAAGGCGGTCATG CCGGACTCCTGCGGACTACACATCCCGGCGGCCCATGCGGCCCCGTCACGTGATGCAAGGATCGCCGGCCTTTCCGCCAGAGGGCGGCAC AGAACTACAACTCCCAGCAAGCTCCCAAGGCGGCCCTCCGCGCAATGCCGCTACCGGAAGTGCGGGTCGCGCTTCCGGCGGCGTCCCGGG GCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGAGGGGTTTTCTGGTGCGTCCTGGTCCACC ATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAGGCCAAATCCCAGGTCT GCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATG ATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAG CCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGGGGGTCCTCAGA GCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGG AGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTG GTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTGTGCGTCCGGACCGCG TCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATC GTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCAC AGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGC ATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGCCATGGCATGTCCG AACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATT CTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACG GTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAG TCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAG AGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTAT GAGGAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAG TTGCTGGTGGACCTGGCAGAGGGCTGCCACACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGATGGCCCGCTCCCTCTCC CCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCTGGGGCTTCTGGTCATC CTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCAC AGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGC CTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGC GGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTC CGCGTCCTGCTGCAGTGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAA GTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAAGACACTGGAGCGGCTC CGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTG GACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATC TGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCC GTCCCACTGCTGGAGTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCC ATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGC CGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAG GACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCT CCACCCGTGAAAGAATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGCAGG ATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTG GAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTC CTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTA CTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCC AAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGC GCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCA GCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGG AGGCCCACAGGTGGTGTTCCCACTGATGAAGAGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCTGCAAAGAAGGGACTGGACCCA TACAATGTACTGGCCCCAAAGGGAGCTTCAGGCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCCAACAAGAGAATAGTAGGCTGC ATCTGTGAAGAGGACAATACCAGCGTCGTCTGGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCCCGCTGTGGAGCCCATTACAAG CTGGTGCCCCAGCAGCTGGCACACTGAGCACCTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTTCTTTCCAGTAAAGACTAGCCA TTGCATTGGCTCCTTCTCCCATAGATGGCTGGTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAATATGCTTATTTTGGGAAAAGC TGTCTGTTAATGCTAGCTTGCCATCCACTTACTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAATAATAAGAATAGATCGACAACC >94517_94517_1_TSC2-COX5B_TSC2_chr16_2130378_ENST00000219476_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1489AA_BP=1392 MRTAIFGKKAQGGNAGPHVGTVRGCRVCSPCPRSWEPQEAARDSSLQPLSRLLPRSSHGAALPAAASLLRRGPGSSLHPRGPAPGPRLRL RVSILALKAVMPDSCGLHIPAAHAAPSRDARIAGLSARGRHRTTTPSKLPRRPSAQCRYRKCGSRFRRRPGARGVRLSPRRGGPERGGAA REGFSGASWSTMAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVE ALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMD VGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKL MRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKY RKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKD GWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLD IIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLL LLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLV LGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHR CASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLA HHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRS ISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTV TTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPR TAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGGVPTDEEQATGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLV -------------------------------------------------------------- >94517_94517_2_TSC2-COX5B_TSC2_chr16_2130378_ENST00000350773_COX5B_chr2_98263530_ENST00000258424_length(transcript)=4247nt_BP=3685nt CTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGAGGGGTTTTCTGGTGCGTCCTGGTCCACCATGGCCAAACCAACA AGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAGGCCAAATCCCAGGTCTGCAGAGGGTAAACAG ACGGAGTTTATCATCACCGCGGAAATACTGAGAGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGT GAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTG GAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAG GTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTAC TTGGAGGAAGAGCTGGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAA TTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATA GAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGC ACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAAC ATGTGCCACCTCATGGAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGA GCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGCCATGGCATGTCCGAACGAGGTGGTGTCC TATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATC GAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGT GACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAGTCCTCCCTCCTGAAC CTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAGGAGC GAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGAGGAGCTGATT AACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGGACCTG GCAGAGGGCTGCCACACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGATGGCCCGCTCCCTCTCCCCACCCCCGGAGCTG GAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCTGGGGCTTCTGGTCATCCTTCAGACCAAGCTG TACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCA ATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGAT GGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCT CCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAG TGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACT TCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAA GGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAG CGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATG CCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAG TTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTAC ACCAACCCCTCCAAGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGG AAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCC CGGAGTACTAGTCTCAACGAGAGACCCAAGAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGAA TTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGCAGGATACAGACGTCCCTC ACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACC TGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGC AGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCG GGGGAGCTGCAGTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAG GCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCG GCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTT CCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTGGT GTTCCCACTGATGAAGAGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCTGCAAAGAAGGGACTGGACCCATACAATGTACTGGCC CCAAAGGGAGCTTCAGGCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCCAACAAGAGAATAGTAGGCTGCATCTGTGAAGAGGAC AATACCAGCGTCGTCTGGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCCCGCTGTGGAGCCCATTACAAGCTGGTGCCCCAGCAG CTGGCACACTGAGCACCTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTTCTTTCCAGTAAAGACTAGCCATTGCATTGGCTCCTT CTCCCATAGATGGCTGGTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAATATGCTTATTTTGGGAAAAGCTGTCTGTTAATGCTA GCTTGCCATCCACTTACTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAATAATAAGAATAGATCGACAACCCGTAATGCAATGAAT >94517_94517_2_TSC2-COX5B_TSC2_chr16_2130378_ENST00000350773_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1298AA_BP=1201 MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQ PERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVL VNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGH SAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDI LLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALME RFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLS PPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLG LPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYK VLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSI CSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRC RLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAFRCRSISVSEHVVRSR IQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSL LGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKAS AGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGGVPTDEEQATGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLVPSISNKRIVGC -------------------------------------------------------------- >94517_94517_3_TSC2-COX5B_TSC2_chr16_2130378_ENST00000353929_COX5B_chr2_98263530_ENST00000258424_length(transcript)=4149nt_BP=3587nt CCGGCGGCGTCCCGGGGCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGAGGGGTTTTCTGG TGCGTCCTGGTCCACCATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAG GCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGAACTGAGCATGGAATGTGGCCTCAA CAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGT CGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCG TTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGC CCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGA ATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCT GTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAG CCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGG CACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGC CGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCA GGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGT GGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCA TGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGC GGACCAGAGGCCTGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCT GCAGGCGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCAT CAACAGGCAGTTCTATGAGGAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCG AAAGCTGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCACACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGAT GGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCT GGGGCTTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCA GCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTC ACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAGGCTC TGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCC CTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGA GTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAA GACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTC TTACCATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGT CGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGC CACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTA TGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCAT GTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGA TGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGCAGGATACAGACGTCCCTCACCAGTGC CAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGA CATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAA AACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCT GCAGTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCA GCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCA GTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCA GGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTGGTGTTCCCAC TGATGAAGAGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCTGCAAAGAAGGGACTGGACCCATACAATGTACTGGCCCCAAAGGG AGCTTCAGGCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCCAACAAGAGAATAGTAGGCTGCATCTGTGAAGAGGACAATACCAG CGTCGTCTGGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCCCGCTGTGGAGCCCATTACAAGCTGGTGCCCCAGCAGCTGGCACA CTGAGCACCTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTTCTTTCCAGTAAAGACTAGCCATTGCATTGGCTCCTTCTCCCATA GATGGCTGGTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAATATGCTTATTTTGGGAAAAGCTGTCTGTTAATGCTAGCTTGCCA TCCACTTACTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAATAATAAGAATAGATCGACAACCCGTAATGCAATGAATGGGACCAC >94517_94517_3_TSC2-COX5B_TSC2_chr16_2130378_ENST00000353929_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1255AA_BP=1158 MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQ PERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVL VNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGH SAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDI LLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALME RFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLS PPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLG LPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYK VLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSI CSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRC RLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARY VFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRG ARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGGVPTDEEQA -------------------------------------------------------------- >94517_94517_4_TSC2-COX5B_TSC2_chr16_2130378_ENST00000382538_COX5B_chr2_98263530_ENST00000258424_length(transcript)=3991nt_BP=3429nt GTCGCGCTTCCGGCGGCGTCCCGGGGCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGGAAC TGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAG TGGAAGCACTCTGGAAGGCGGTCGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCA TCGTGCAGGGGCAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACG AAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTGTCCTGCAGTGGA TGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGA TGGTTCAGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCT ACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGA AGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGAGCCTACATGGAGG ACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACAT CTGTGTTGCCATCATTTTACCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGA AGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCC CGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACT TTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCA AGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACG TGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCG AGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCACACACACCACTTCAACAGCCTGC TGGACATCATCGAGAAGGTGATGGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGG AGGATGTGAAGACAGCCGTCCTGGGGCTTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATG AGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCC TGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACT ACATGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCG CCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGC TGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCT GCTCCATGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTC CAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCC ACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGG TGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACA GGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACATCGTGTGTC TGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGT CCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGCAGGA TACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGG AGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTCC TCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTAC TAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCA AGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCG CCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAG CTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGA GGCCCACAGGTGGTGTTCCCACTGATGAAGAGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCTGCAAAGAAGGGACTGGACCCAT ACAATGTACTGGCCCCAAAGGGAGCTTCAGGCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCCAACAAGAGAATAGTAGGCTGCA TCTGTGAAGAGGACAATACCAGCGTCGTCTGGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCCCGCTGTGGAGCCCATTACAAGC TGGTGCCCCAGCAGCTGGCACACTGAGCACCTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTTCTTTCCAGTAAAGACTAGCCAT TGCATTGGCTCCTTCTCCCATAGATGGCTGGTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAATATGCTTATTTTGGGAAAAGCT GTCTGTTAATGCTAGCTTGCCATCCACTTACTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAATAATAAGAATAGATCGACAACCC >94517_94517_4_TSC2-COX5B_TSC2_chr16_2130378_ENST00000382538_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1208AA_BP=1111 MSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLH ERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVC YNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPT SVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERY FELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIP EDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVY EMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGP AVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVV PVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLY RNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSR IQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSL LGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKAS AGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGGVPTDEEQATGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLVPSISNKRIVGC -------------------------------------------------------------- >94517_94517_5_TSC2-COX5B_TSC2_chr16_2130378_ENST00000401874_COX5B_chr2_98263530_ENST00000258424_length(transcript)=4146nt_BP=3584nt CCGGCGGCGTCCCGGGGCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGAGGGGTTTTCTGG TGCGTCCTGGTCCACCATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAG GCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGAACTGAGCATGGAATGTGGCCTCAA CAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGT CGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCG TTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGC CCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGA ATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCT GTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAG CCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGG CACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGC CGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCA GGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGT GGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCA TGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGC GGACCAGAGGCCTGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCT GCAGGCGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCAT CAACAGGCAGTTCTATGAGGAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCG AAAGCTGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCACACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGAT GGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCT GGGGCTTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCA GCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTC ACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAGGCTC TGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCC CTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGA GTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAA GACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTC TTACCATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGT CGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGC CACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTA TGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCAT GTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGA TGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGATACAGACGTCCCTCACCAGTGCCAG CTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACAT GATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAAC CTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCA GTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCA GGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTT CCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGA GAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTGGTGTTCCCACTGA TGAAGAGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCTGCAAAGAAGGGACTGGACCCATACAATGTACTGGCCCCAAAGGGAGC TTCAGGCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCCAACAAGAGAATAGTAGGCTGCATCTGTGAAGAGGACAATACCAGCGT CGTCTGGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCCCGCTGTGGAGCCCATTACAAGCTGGTGCCCCAGCAGCTGGCACACTG AGCACCTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTTCTTTCCAGTAAAGACTAGCCATTGCATTGGCTCCTTCTCCCATAGAT GGCTGGTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAATATGCTTATTTTGGGAAAAGCTGTCTGTTAATGCTAGCTTGCCATCC ACTTACTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAATAATAAGAATAGATCGACAACCCGTAATGCAATGAATGGGACCACCTG >94517_94517_5_TSC2-COX5B_TSC2_chr16_2130378_ENST00000401874_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1254AA_BP=1157 MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQ PERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVL VNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGH SAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDI LLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALME RFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLS PPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLG LPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYK VLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSI CSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRC RLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYV FSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGA RDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGGVPTDEEQAT -------------------------------------------------------------- >94517_94517_6_TSC2-COX5B_TSC2_chr16_2130378_ENST00000439673_COX5B_chr2_98263530_ENST00000258424_length(transcript)=4013nt_BP=3451nt GTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGAGGGGTTTTCTGGTGCGTCCTGGTCCACCATGGCCAAA CCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAGGCCAAATCCCAGGTCTGCAGAGGGT AAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAG ATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTAC CCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTG GCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTAC CTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTGTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCTCCCTGCAG GTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAG GAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATG GAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTAT TCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTG TCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAG CAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTC CACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAGTCCTCCCTCCTGAACCTGATCTCCTATAGA GCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGGCGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCC GTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGAGGAGCTGATTAACTCAGTGGTCATC TCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCAC ACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGATGGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTG GCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCTGGGGCTTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCA AGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATC CGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTC AGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCT GGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAG TCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTG GACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACT GACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTAC TGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATC AAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCACTCTG GCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAG TTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCT TTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTC AACGAGAGACCCAAGAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGAT AGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAG AGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTG GGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGA CAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGG GGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCC GCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGC TGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTGGTGTTCCCACTGATGAAGAGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCT GCAAAGAAGGGACTGGACCCATACAATGTACTGGCCCCAAAGGGAGCTTCAGGCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCC AACAAGAGAATAGTAGGCTGCATCTGTGAAGAGGACAATACCAGCGTCGTCTGGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCC CGCTGTGGAGCCCATTACAAGCTGGTGCCCCAGCAGCTGGCACACTGAGCACCTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTT CTTTCCAGTAAAGACTAGCCATTGCATTGGCTCCTTCTCCCATAGATGGCTGGTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAA TATGCTTATTTTGGGAAAAGCTGTCTGTTAATGCTAGCTTGCCATCCACTTACTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAAT >94517_94517_6_TSC2-COX5B_TSC2_chr16_2130378_ENST00000439673_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1218AA_BP=1121 MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEGERLGVLRALFFKVI KDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEV SLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAH RLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQ NEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINS VVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYT LPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPT GPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGF SRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFL STLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARS TSLNERPKSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVT TSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRT APAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVRRPTGGVPTDEEQATGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLVP -------------------------------------------------------------- >94517_94517_7_TSC2-COX5B_TSC2_chr16_2130378_ENST00000568454_COX5B_chr2_98263530_ENST00000258424_length(transcript)=4141nt_BP=3579nt AGTTTTAAGTCATGGCGGGTGCGAACGGGTCTCTGCTGCAGGCGGCTCCGTGACAGCTCCTGCTTCACATGGAGGGGTTTTCTGGTGCGT CCTGGTCCACCATGGCCAAACCAACAAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAGGCCAA ATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACTGAGAGAACTGAGCATGGAATGTGGCCTCAACAATC GCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGTCGCGG ATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGG GGGTCCTCAGAGCCCTCTTCTTTAAGGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCA CAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTGTCCTGCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCC TTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCTGTGCG TCCGGACCGCGTCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCC CGCTGTTCATCGTTACCCTCTGTCGCACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGGCACCC ACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGAGCCTACATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGT TTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCAGGCCA TGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGG CGTGGGACATTCTGCTGAACATCATCGAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACC TGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGAGAGATACTTTGAACTGGTGGAGAGATGTGCGGACC AGAGGCCTGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCTGCAGG CGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACA GGCAGTTCTATGAGGAGGAGCTGATTAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGC TGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCACACACACCACTTCAACAGCCTGCTGGACATCATCGAGAAGGTGATGGCCC GCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCTGGGGC TTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCC ACTACAAGCACAGCTACACCCTGCCAATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGC ACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGTCTGCGACTACATGGAGCCAGAGAGAGGCTCTGAGA AGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCCCTACT CCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCC TGCGCTATAAAGTGCTCATCTTTACTTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAAGACAC TGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACC ATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGG CCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAG CCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCA GTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACATCGTGTGTCTGGCCCATCACGTCATAGCCATGTGGT TCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGATGACA CCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGGATACAGACGTCCCTCACCAGTGCCAGCTTGG GGTCTGCAGATGAGAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGG CTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTCTCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGC TGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTCGGGGGAGCTGCAGTCCG GCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGT CCCGTGGGGCCCGGGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGG GCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAAACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGA CGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGTGGTGTTCCCACTGATGAAG AGCAGGCGACTGGGTTGGAGAGGGAGATCATGCTGGCTGCAAAGAAGGGACTGGACCCATACAATGTACTGGCCCCAAAGGGAGCTTCAG GCACCAGGGAAGACCCTAATTTAGTCCCCTCCATCTCCAACAAGAGAATAGTAGGCTGCATCTGTGAAGAGGACAATACCAGCGTCGTCT GGTTTTGGCTGCACAAAGGCGAGGCCCAGCGATGCCCCCGCTGTGGAGCCCATTACAAGCTGGTGCCCCAGCAGCTGGCACACTGAGCAC CTGCACTAAATTACTCAAAATGTGCTGTAAAGTTTCTTCTTTCCAGTAAAGACTAGCCATTGCATTGGCTCCTTCTCCCATAGATGGCTG GTCTTATTTCTTACCCGTATTCTTTGGTAGGCATGGAATATGCTTATTTTGGGAAAAGCTGTCTGTTAATGCTAGCTTGCCATCCACTTA CTGAAAGTGTATAACCAGTGTATAGTGCTTAGATTAATAATAAGAATAGATCGACAACCCGTAATGCAATGAATGGGACCACCTGGTATG >94517_94517_7_TSC2-COX5B_TSC2_chr16_2130378_ENST00000568454_COX5B_chr2_98263530_ENST00000258424_length(amino acids)=1268AA_BP=1171 MLHMEGFSGASWSTMAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEH AVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQ WMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFIVTLCRTINVKELCEPC WKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLI KKYRKELQVVAWDILLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHP AKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNS LLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKHSYTLPIASSIRLQAFD FLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVL KLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGL IHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIV CLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKRIQTSLTSASLGSADENSVAQADDSLKNLHL ELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPA KLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVR RPTGGVPTDEEQATGLEREIMLAAKKGLDPYNVLAPKGASGTREDPNLVPSISNKRIVGCICEEDNTSVVWFWLHKGEAQRCPRCGAHYK -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for TSC2-COX5B |
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 TSC2-COX5B |
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 |
Tgene | COX5B | P10606 | DB02659 | Cholic Acid | Small molecule | Approved |
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Related Diseases for TSC2-COX5B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TSC2 | C1860707 | TUBEROUS SCLEROSIS 2 (disorder) | 21 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | TSC2 | C0041341 | Tuberous Sclerosis | 14 | CLINGEN;CTD_human;GENOMICS_ENGLAND |
Hgene | TSC2 | C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | 6 | CLINGEN |
Hgene | TSC2 | C0751674 | Lymphangioleiomyomatosis | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | TSC2 | C0265319 | Fibrous skin tumor of tuberous sclerosis | 4 | CTD_human |
Hgene | TSC2 | C0022665 | Kidney Neoplasm | 3 | CTD_human |
Hgene | TSC2 | C0740457 | Malignant neoplasm of kidney | 3 | CTD_human |
Hgene | TSC2 | C1846385 | FOCAL CORTICAL DYSPLASIA OF TAYLOR | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | TSC2 | C0022333 | Jacksonian Seizure | 2 | CTD_human |
Hgene | TSC2 | C0036572 | Seizures | 2 | CTD_human |
Hgene | TSC2 | C0149958 | Complex partial seizures | 2 | CTD_human |
Hgene | TSC2 | C0234533 | Generalized seizures | 2 | CTD_human |
Hgene | TSC2 | C0234535 | Clonic Seizures | 2 | CTD_human |
Hgene | TSC2 | C0270824 | Visual seizure | 2 | CTD_human |
Hgene | TSC2 | C0270844 | Tonic Seizures | 2 | CTD_human |
Hgene | TSC2 | C0270846 | Epileptic drop attack | 2 | CTD_human |
Hgene | TSC2 | C0422850 | Seizures, Somatosensory | 2 | CTD_human |
Hgene | TSC2 | C0422852 | Seizures, Auditory | 2 | CTD_human |
Hgene | TSC2 | C0422853 | Olfactory seizure | 2 | CTD_human |
Hgene | TSC2 | C0422854 | Gustatory seizure | 2 | CTD_human |
Hgene | TSC2 | C0422855 | Vertiginous seizure | 2 | CTD_human |
Hgene | TSC2 | C0494475 | Tonic - clonic seizures | 2 | CTD_human |
Hgene | TSC2 | C0751056 | Non-epileptic convulsion | 2 | CTD_human |
Hgene | TSC2 | C0751110 | Single Seizure | 2 | CTD_human |
Hgene | TSC2 | C0751123 | Atonic Absence Seizures | 2 | CTD_human |
Hgene | TSC2 | C0751494 | Convulsive Seizures | 2 | CTD_human |
Hgene | TSC2 | C0751495 | Seizures, Focal | 2 | CTD_human |
Hgene | TSC2 | C0751496 | Seizures, Sensory | 2 | CTD_human |
Hgene | TSC2 | C1838327 | Polycystic kidneys, severe infantile with tuberous sclerosis | 2 | ORPHANET |
Hgene | TSC2 | C3495874 | Nonepileptic Seizures | 2 | CTD_human |
Hgene | TSC2 | C4048158 | Convulsions | 2 | CTD_human |
Hgene | TSC2 | C4316903 | Absence Seizures | 2 | CTD_human |
Hgene | TSC2 | C4317109 | Epileptic Seizures | 2 | CTD_human |
Hgene | TSC2 | C4317123 | Myoclonic Seizures | 2 | CTD_human |
Hgene | TSC2 | C4505436 | Generalized Absence Seizures | 2 | CTD_human |
Hgene | TSC2 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | TSC2 | C0006111 | Brain Diseases | 1 | CTD_human |
Hgene | TSC2 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | TSC2 | C0014544 | Epilepsy | 1 | CTD_human |
Hgene | TSC2 | C0021368 | Inflammation | 1 | CTD_human |
Hgene | TSC2 | C0023267 | Fibroid Tumor | 1 | CTD_human |
Hgene | TSC2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Hgene | TSC2 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Hgene | TSC2 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Hgene | TSC2 | C0027746 | Nerve Degeneration | 1 | CTD_human |
Hgene | TSC2 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Hgene | TSC2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Hgene | TSC2 | C0037769 | West Syndrome | 1 | CTD_human |
Hgene | TSC2 | C0042133 | Uterine Fibroids | 1 | CTD_human |
Hgene | TSC2 | C0085584 | Encephalopathies | 1 | CTD_human |
Hgene | TSC2 | C0086237 | Epilepsy, Cryptogenic | 1 | CTD_human |
Hgene | TSC2 | C0153381 | Malignant neoplasm of mouth | 1 | CTD_human |
Hgene | TSC2 | C0236018 | Aura | 1 | CTD_human |
Hgene | TSC2 | C0279607 | Adult Hepatocellular Carcinoma | 1 | ORPHANET |
Hgene | TSC2 | C0282313 | Condition, Preneoplastic | 1 | CTD_human |
Hgene | TSC2 | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human |
Hgene | TSC2 | C0393698 | Cryptogenic Infantile Spasms | 1 | CTD_human |
Hgene | TSC2 | C0393699 | Symptomatic Infantile Spasms | 1 | CTD_human |
Hgene | TSC2 | C0546878 | Nodding spasm | 1 | CTD_human |
Hgene | TSC2 | C0553558 | Jackknife Seizures | 1 | CTD_human |
Hgene | TSC2 | C0684276 | Hypsarrhythmia | 1 | CTD_human |
Hgene | TSC2 | C0751111 | Awakening Epilepsy | 1 | CTD_human |
Hgene | TSC2 | C1527306 | spasmus nutans | 1 | CTD_human |
Hgene | TSC2 | C1527366 | Salaam Seizures | 1 | CTD_human |
Hgene | TSC2 | C1846386 | Focal Cortical Dysplasia of Taylor, Type IIa | 1 | CTD_human |
Hgene | TSC2 | C1846389 | Focal Cortical Dysplasia of Taylor, Type IIb | 1 | CTD_human |
Hgene | TSC2 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human |