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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:ACACA-GSDMB (FusionGDB2 ID:1154) |
Fusion Gene Summary for ACACA-GSDMB |
Fusion gene summary |
Fusion gene information | Fusion gene name: ACACA-GSDMB | Fusion gene ID: 1154 | Hgene | Tgene | Gene symbol | ACACA | GSDMB | Gene ID | 31 | 55876 |
Gene name | acetyl-CoA carboxylase alpha | gasdermin B | |
Synonyms | ACAC|ACACAD|ACC|ACC1|ACCA | GSDMB-1|GSDML|PP4052|PRO2521 | |
Cytomap | 17q12 | 17q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | acetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alpha | gasdermin-Bgasdermin-like proteingasderminB-1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q13085 | Q8TAX9 | |
Ensembl transtripts involved in fusion gene | ENST00000353139, ENST00000360679, ENST00000335166, ENST00000394406, ENST00000361253, ENST00000416895, ENST00000588142, ENST00000589665, | ENST00000309481, ENST00000360317, ENST00000394175, ENST00000394179, ENST00000418519, ENST00000520542, | |
Fusion gene scores | * DoF score | 44 X 35 X 17=26180 | 12 X 13 X 9=1404 |
# samples | 51 | 15 | |
** MAII score | log2(51/26180*10)=-5.68182403997375 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1404*10)=-3.22650852980868 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACACA [Title/Abstract] AND GSDMB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACACA(35627642)-GSDMB(38068750), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | ACACA-GSDMB seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. ACACA-GSDMB seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted 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 ACACA (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 GSDMB (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 | COAD | TCGA-D5-6929-01A | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
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Fusion Gene ORF analysis for ACACA-GSDMB |
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 |
Frame-shift | ENST00000353139 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000353139 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000353139 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000353139 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000353139 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000353139 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000360679 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000360679 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000360679 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000360679 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000360679 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
Frame-shift | ENST00000360679 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000335166 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000335166 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000335166 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000335166 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000335166 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000335166 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000394406 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000394406 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000394406 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000394406 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000394406 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
In-frame | ENST00000394406 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000361253 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000361253 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000361253 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000361253 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000361253 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000361253 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000416895 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000416895 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000416895 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000416895 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000416895 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000416895 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000588142 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000588142 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000588142 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000588142 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000588142 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000588142 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000589665 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000589665 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000589665 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000589665 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000589665 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
intron-3CDS | ENST00000589665 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - |
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) |
ENST00000394406 | ACACA | chr17 | 35627642 | - | ENST00000360317 | GSDMB | chr17 | 38068750 | - | 2432 | 1199 | 113 | 1234 | 373 |
ENST00000394406 | ACACA | chr17 | 35627642 | - | ENST00000394175 | GSDMB | chr17 | 38068750 | - | 2366 | 1199 | 113 | 1234 | 373 |
ENST00000394406 | ACACA | chr17 | 35627642 | - | ENST00000309481 | GSDMB | chr17 | 38068750 | - | 2393 | 1199 | 113 | 1234 | 373 |
ENST00000394406 | ACACA | chr17 | 35627642 | - | ENST00000520542 | GSDMB | chr17 | 38068750 | - | 2403 | 1199 | 113 | 1234 | 373 |
ENST00000394406 | ACACA | chr17 | 35627642 | - | ENST00000418519 | GSDMB | chr17 | 38068750 | - | 2430 | 1199 | 113 | 1234 | 373 |
ENST00000394406 | ACACA | chr17 | 35627642 | - | ENST00000394179 | GSDMB | chr17 | 38068750 | - | 2415 | 1199 | 113 | 1234 | 373 |
ENST00000335166 | ACACA | chr17 | 35627642 | - | ENST00000360317 | GSDMB | chr17 | 38068750 | - | 2613 | 1380 | 1403 | 2395 | 330 |
ENST00000335166 | ACACA | chr17 | 35627642 | - | ENST00000394175 | GSDMB | chr17 | 38068750 | - | 2547 | 1380 | 1403 | 2329 | 308 |
ENST00000335166 | ACACA | chr17 | 35627642 | - | ENST00000309481 | GSDMB | chr17 | 38068750 | - | 2574 | 1380 | 1403 | 2356 | 317 |
ENST00000335166 | ACACA | chr17 | 35627642 | - | ENST00000520542 | GSDMB | chr17 | 38068750 | - | 2584 | 1380 | 1403 | 2368 | 321 |
ENST00000335166 | ACACA | chr17 | 35627642 | - | ENST00000418519 | GSDMB | chr17 | 38068750 | - | 2611 | 1380 | 1403 | 2395 | 330 |
ENST00000335166 | ACACA | chr17 | 35627642 | - | ENST00000394179 | GSDMB | chr17 | 38068750 | - | 2596 | 1380 | 1403 | 2380 | 325 |
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 |
ENST00000394406 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.003717934 | 0.99628204 |
ENST00000394406 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.003930709 | 0.9960693 |
ENST00000394406 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.00372697 | 0.99627304 |
ENST00000394406 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.003871957 | 0.996128 |
ENST00000394406 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.003788138 | 0.9962119 |
ENST00000394406 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.003761722 | 0.99623823 |
ENST00000335166 | ENST00000360317 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.002231343 | 0.99776864 |
ENST00000335166 | ENST00000394175 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.002424633 | 0.99757534 |
ENST00000335166 | ENST00000309481 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.002330972 | 0.99766904 |
ENST00000335166 | ENST00000520542 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.002273362 | 0.9977266 |
ENST00000335166 | ENST00000418519 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.002257608 | 0.9977424 |
ENST00000335166 | ENST00000394179 | ACACA | chr17 | 35627642 | - | GSDMB | chr17 | 38068750 | - | 0.002331239 | 0.9976687 |
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Fusion Genomic Features for ACACA-GSDMB |
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 ACACA-GSDMB |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:35627642/chr17:38068750) - 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 |
ACACA | GSDMB |
FUNCTION: Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20952656, PubMed:20457939, PubMed:29899443). {ECO:0000269|PubMed:20457939, ECO:0000269|PubMed:20952656, ECO:0000269|PubMed:29899443}. | FUNCTION: [Gasdermin-B]: Precursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death (PubMed:32299851). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moiety (Gasdermin-B, N-terminal) binds to membranes and forms pores, triggering pyroptosis (PubMed:32299851). {ECO:0000269|PubMed:32299851}.; FUNCTION: [Gasdermin-B, N-terminal]: Pore-forming protein produced by cleavage by granzyme A (GZMA), which causes membrane permeabilization and pyroptosis in target cells of cytotoxic T and natural killer (NK) cells (PubMed:27281216, PubMed:32299851). Key downstream mediator of granzyme-mediated cell death: (1) granzyme A (GZMA), delivered to target cells from cytotoxic T- and NK-cells, (2) specifically cleaves Gasdermin-B to generate this form (PubMed:32299851). After cleavage, moves to the plasma membrane, homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (PubMed:32299851). Binds to membrane inner leaflet lipids, such as phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, bisphosphorylated phosphatidylinositols, such as phosphatidylinositol (4,5)-bisphosphate, and more weakly to phosphatidic acid (PubMed:28154144). Also binds sufatide, a component of the apical membrane of epithelial cells (PubMed:28154144). {ECO:0000269|PubMed:27281216, ECO:0000269|PubMed:28154144, ECO:0000269|PubMed:32299851}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 315_320 | 373 | 2384.0 | Nucleotide binding | ATP |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 315_320 | 336 | 2347.0 | Nucleotide binding | ATP |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000309481 | 1 | 10 | 243_271 | 78 | 404.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000360317 | 0 | 10 | 243_271 | 78 | 417.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000394175 | 0 | 8 | 243_271 | 78 | 395.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000394179 | 1 | 10 | 243_271 | 78 | 412.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000418519 | 1 | 11 | 243_271 | 78 | 417.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000520542 | 1 | 10 | 243_271 | 78 | 408.0 | Coiled coil | Ontology_term=ECO:0000255 |
- 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 | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 117_618 | 258 | 2269.0 | Domain | Biotin carboxylation |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 1576_1914 | 258 | 2269.0 | Domain | CoA carboxyltransferase N-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 1918_2234 | 258 | 2269.0 | Domain | CoA carboxyltransferase C-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 275_466 | 258 | 2269.0 | Domain | ATP-grasp |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 745_819 | 258 | 2269.0 | Domain | Biotinyl-binding |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 117_618 | 373 | 2384.0 | Domain | Biotin carboxylation |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 1576_1914 | 373 | 2384.0 | Domain | CoA carboxyltransferase N-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 1918_2234 | 373 | 2384.0 | Domain | CoA carboxyltransferase C-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 275_466 | 373 | 2384.0 | Domain | ATP-grasp |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 745_819 | 373 | 2384.0 | Domain | Biotinyl-binding |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 117_618 | 278 | 2289.0 | Domain | Biotin carboxylation |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 1576_1914 | 278 | 2289.0 | Domain | CoA carboxyltransferase N-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 1918_2234 | 278 | 2289.0 | Domain | CoA carboxyltransferase C-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 275_466 | 278 | 2289.0 | Domain | ATP-grasp |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 745_819 | 278 | 2289.0 | Domain | Biotinyl-binding |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 117_618 | 336 | 2347.0 | Domain | Biotin carboxylation |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 1576_1914 | 336 | 2347.0 | Domain | CoA carboxyltransferase N-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 1918_2234 | 336 | 2347.0 | Domain | CoA carboxyltransferase C-terminal |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 275_466 | 336 | 2347.0 | Domain | ATP-grasp |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 745_819 | 336 | 2347.0 | Domain | Biotinyl-binding |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 315_320 | 258 | 2269.0 | Nucleotide binding | ATP |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 315_320 | 278 | 2289.0 | Nucleotide binding | ATP |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000335166 | - | 9 | 55 | 1576_2234 | 258 | 2269.0 | Region | Carboxyltransferase |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000353139 | - | 10 | 56 | 1576_2234 | 373 | 2384.0 | Region | Carboxyltransferase |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000360679 | - | 8 | 54 | 1576_2234 | 278 | 2289.0 | Region | Carboxyltransferase |
Hgene | ACACA | chr17:35627642 | chr17:38068750 | ENST00000394406 | - | 10 | 56 | 1576_2234 | 336 | 2347.0 | Region | Carboxyltransferase |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000309481 | 1 | 10 | 1_275 | 78 | 404.0 | Region | Triggers pyroptosis | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000360317 | 0 | 10 | 1_275 | 78 | 417.0 | Region | Triggers pyroptosis | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000394175 | 0 | 8 | 1_275 | 78 | 395.0 | Region | Triggers pyroptosis | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000394179 | 1 | 10 | 1_275 | 78 | 412.0 | Region | Triggers pyroptosis | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000418519 | 1 | 11 | 1_275 | 78 | 417.0 | Region | Triggers pyroptosis | |
Tgene | GSDMB | chr17:35627642 | chr17:38068750 | ENST00000520542 | 1 | 10 | 1_275 | 78 | 408.0 | Region | Triggers pyroptosis |
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Fusion Gene Sequence for ACACA-GSDMB |
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. |
>1154_1154_1_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000309481_length(transcript)=2574nt_BP=1380nt GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGACTTTGAAATACTCGTGGGATATGAAGTGGAGGTGCCTAGAGGGTTGAAGAT AATGAGGACAGATGAAGAAATGTTTGATTGTGCCATACTTACAGTTGCTGATTTTCAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAG CAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAA GTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGA AATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTG CCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGG GCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCC ATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGT GTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGAT GGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAAT GCAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGA GATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGT ATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGA CAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCT ATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGA CGATGAAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGG AGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGG ATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATG CTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGG CTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTC CTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTA CCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACT ACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCGCTCCATGTTAACATCCAAAACCA >1154_1154_1_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000309481_length(amino acids)=317AA_BP= MDNVDSTGELIVRLPKEITISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQY KFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVKQLVFPNKETMKKDGASSCLGKSLGSEDSRNMKEKLEDMESVLKDLTEEKRKDVLNS LAKCLGKEDIRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVEARAKAILDFLDALLELSEEQQFVAEALEKGTLPLLKDQVKS -------------------------------------------------------------- >1154_1154_2_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000360317_length(transcript)=2613nt_BP=1380nt GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGACTTTGAAATACTCGTGGGATATGAAGTGGAGGTGCCTAGAGGGTTGAAGAT AATGAGGACAGATGAAGAAATGTTTGATTGTGCCATACTTACAGTTGCTGATTTTCAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAG CAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAA GTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGA AATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTG CCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGG GCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCC ATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGT GTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGAT GGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAAT GCAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGA GATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGT ATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGA CAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCT ATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGA CGATGAATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGG AGGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACT CCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGG AGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGG ATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAAT CTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATG TTGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGG TTTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTT TGATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAGCCTGGATTTCATACATGGACTTCTGATTAAAAGTGGCAGGTTGTGCATGT >1154_1154_2_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000360317_length(amino acids)=330AA_BP= MDNVDSTGELIVRLPKEITISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQY KFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVKQLVFPNKETMNIHFRGKTKSFPEEKDGASSCLGKSLGSEDSRNMKEKLEDMESVLK DLTEEKRKDVLNSLAKCLGKEDIRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVEARAKAILDFLDALLELSEEQQFVAEALE -------------------------------------------------------------- >1154_1154_3_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000394175_length(transcript)=2547nt_BP=1380nt GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGACTTTGAAATACTCGTGGGATATGAAGTGGAGGTGCCTAGAGGGTTGAAGAT AATGAGGACAGATGAAGAAATGTTTGATTGTGCCATACTTACAGTTGCTGATTTTCAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAG CAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAA GTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGA AATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTG CCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGG GCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCC ATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGT GTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGAT GGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAAT GCAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGA GATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGT ATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGA CAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCT ATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGA CGATGAGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGG AGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCC TGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTG CAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTC CTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGG CACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGC CCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTT TAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAGCCTGGATTTCATACATGGACTTCTGA >1154_1154_3_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000394175_length(amino acids)=308AA_BP= MDNVDSTGELIVRLPKEITISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQY KFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVKQLVFPNKETMRKSLGSEDSRNMKEKLEDMESVLKDLTEEKRKDVLNSLAKCLGKED IRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVEARAKAILDFLDALLELSEEQQFVAEALEKGTLPLLKDQVKSVMEQNWDEL -------------------------------------------------------------- >1154_1154_4_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000394179_length(transcript)=2596nt_BP=1380nt GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGACTTTGAAATACTCGTGGGATATGAAGTGGAGGTGCCTAGAGGGTTGAAGAT AATGAGGACAGATGAAGAAATGTTTGATTGTGCCATACTTACAGTTGCTGATTTTCAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAG CAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAA GTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGA AATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTG CCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGG GCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCC ATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGT GTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGAT GGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAAT GCAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGA GATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGT ATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGA CAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCT ATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGA CGATGAGTGCTGGTTTAGATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACA TGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCC TCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGC CTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGC TGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGA ACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCC TGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAG TCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTC >1154_1154_4_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000394179_length(amino acids)=325AA_BP= MDNVDSTGELIVRLPKEITISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQY KFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVKQLVFPNKETMSAGLDIHFRGKTKSFPEGKSLGSEDSRNMKEKLEDMESVLKDLTEE KRKDVLNSLAKCLGKEDIRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVEARAKAILDFLDALLELSEEQQFVAEALEKGTLP -------------------------------------------------------------- >1154_1154_5_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000418519_length(transcript)=2611nt_BP=1380nt GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGACTTTGAAATACTCGTGGGATATGAAGTGGAGGTGCCTAGAGGGTTGAAGAT AATGAGGACAGATGAAGAAATGTTTGATTGTGCCATACTTACAGTTGCTGATTTTCAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAG CAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAA GTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGA AATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTG CCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGG GCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCC ATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGT GTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGAT GGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAAT GCAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGA GATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGT ATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGA CAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCT ATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGA CGATGAATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGG AGGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACT CCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGG AGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGG ATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAAT CTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATG TTGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGG TTTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTT TGATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAGCCTGGATTTCATACATGGACTTCTGATTAAAAGTGGCAGGTTGTGCATGT >1154_1154_5_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000418519_length(amino acids)=330AA_BP= MDNVDSTGELIVRLPKEITISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQY KFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVKQLVFPNKETMNIHFRGKTKSFPEEKDGASSCLGKSLGSEDSRNMKEKLEDMESVLK DLTEEKRKDVLNSLAKCLGKEDIRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVEARAKAILDFLDALLELSEEQQFVAEALE -------------------------------------------------------------- >1154_1154_6_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000520542_length(transcript)=2584nt_BP=1380nt GGCAGCCAGGAGAGGCAGTGGAGCTTTTCTCCGTTGACTGTCAGAAGAAAGTGACTGTTGTTGAAAATGTTTGCTGCAACTAAAGGAGAG CTGCTAAGATCTACTTTCTAGTTAAACAAGCTTTTATATTTCTCCCCGGCTCCTCTCAGTTCCCTTGGGAAATCAACTAATTGTGTGTGT AAGCTAAGTGTGTGGAGGAGAGAAGATGCAAAAAGGAAGAGAAAGGTGGGGAAAGAAGGAAATTGGGAACAATTAGACAAAAAGACTATA GTTTGAGGCCATCAGGAGTATTCTAGTCTGACTGAAGCCAGGCAGAAGGCACAGTATCTCTTGTCCTCCTGGGTTTTAAGCAGCTGCAAC AGGAGGAGGAACTGCGGCTTGTGTTTACAAGGCCGAAATCTGAAGAAAAAGCTTCCATTCTTTTCCCATCTTGATATGGAGGGTTCTCCA GAGGAAAATAAGGAAATGAGATATTACATGCTTCAAAGACTTTGAAATACTCGTGGGATATGAAGTGGAGGTGCCTAGAGGGTTGAAGAT AATGAGGACAGATGAAGAAATGTTTGATTGTGCCATACTTACAGTTGCTGATTTTCAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAG CAGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAA GTGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGA AATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTG CCAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGG GCTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCC ATGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGT GTGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGAT GGGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAAT GCAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGA GATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGT ATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGA CAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCT ATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGA CGATGAATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGT TGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGG ATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCA GCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGC AGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGC TGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCTGCTGGAGCTGG CTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGTCTGTCCTCACT GCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCGCTCCATGTTAA >1154_1154_6_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000335166_GSDMB_chr17_38068750_ENST00000520542_length(amino acids)=321AA_BP= MDNVDSTGELIVRLPKEITISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQY KFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVKQLVFPNKETMNIHFRGKTKSFPEGKSLGSEDSRNMKEKLEDMESVLKDLTEEKRKD VLNSLAKCLGKEDIRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVEARAKAILDFLDALLELSEEQQFVAEALEKGTLPLLKD -------------------------------------------------------------- >1154_1154_7_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000309481_length(transcript)=2393nt_BP=1199nt CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGC AGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAG TGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAA ATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGC CAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGG CTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCA TGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTG TGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATG GGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATG CAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAG ATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTA TCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGAC AGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTA TAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGAC GATGAAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGA GAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGA TCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGC TGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGC TGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCC TCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTAC CTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTA CCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAG >1154_1154_7_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000309481_length(amino acids)=373AA_BP= MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF -------------------------------------------------------------- >1154_1154_8_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000360317_length(transcript)=2432nt_BP=1199nt CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGC AGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAG TGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAA ATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGC CAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGG CTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCA TGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTG TGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATG GGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATG CAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAG ATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTA TCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGAC AGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTA TAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGAC GATGAATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGGA GGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTC CCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGA GGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGA TGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATC TGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGT TGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGT TTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTT GATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAGCCTGGATTTCATACATGGACTTCTGATTAAAAGTGGCAGGTTGTGCATGTT >1154_1154_8_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000360317_length(amino acids)=373AA_BP= MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF -------------------------------------------------------------- >1154_1154_9_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000394175_length(transcript)=2366nt_BP=1199nt CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGC AGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAG TGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAA ATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGC CAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGG CTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCA TGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTG TGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATG GGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATG CAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAG ATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTA TCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGAC AGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTA TAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGAC GATGAGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGA GAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCT GATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGC AAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCC TCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGC ACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCC CTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTT AAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAGCCTGGATTTCATACATGGACTTCTGAT >1154_1154_9_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000394175_length(amino acids)=373AA_BP= MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF -------------------------------------------------------------- >1154_1154_10_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000394179_length(transcript)=2415nt_BP=1199nt CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGC AGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAG TGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAA ATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGC CAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGG CTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCA TGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTG TGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATG GGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATG CAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAG ATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTA TCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGAC AGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTA TAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGAC GATGAGTGCTGGTTTAGATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACAT GAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCT CGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCC TCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCT GTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAA CTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCT GCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGT CTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCG >1154_1154_10_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000394179_length(amino acids)=373AA_BP= MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF -------------------------------------------------------------- >1154_1154_11_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000418519_length(transcript)=2430nt_BP=1199nt CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGC AGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAG TGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAA ATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGC CAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGG CTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCA TGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTG TGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATG GGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATG CAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAG ATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTA TCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGAC AGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTA TAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGAC GATGAATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGGA GGATTCCAGAAACATGAAGGAGAAGTTGGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTC CCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGA GGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGA TGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATC TGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGT TGTTGTCTCTATCCTGCTGGAGCTGGCTGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGT TTTCCCTTTACCAGTCTGTCCTCACTGCCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTT GATGTATCCCATTCGCTCCATGTTAACATCCAAAACCAGCCTGGATTTCATACATGGACTTCTGATTAAAAGTGGCAGGTTGTGCATGTT >1154_1154_11_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000418519_length(amino acids)=373AA_BP= MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF -------------------------------------------------------------- >1154_1154_12_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000520542_length(transcript)=2403nt_BP=1199nt CGGCCTGGTGCTGCACGCCTGTCAGCCATCGCCCGAGCCGCCGGCGTCTCCTCCCGCCCAGCAGTTCCTCCACGCAGGGGCTCCGGAATC GCCCGACCGCACACGTTGCCACCCTGAGGTCTTTCTGGAAGTGGATATCTACTCAGACAGTAAGAATTATAAGAGCTGTAAGAGCTCATT TTGGAGGAATAATGGATGAACCATCTCCCTTGGCCCAACCTCTGGAGCTGAACCAGCACTCTCGATTCATAATAGGTTCTGTGTCTGAAG ATAACTCAGAGGATGAGATCAGCAACCTGGTGAAGTTGGACCTACTGGAGGAGAAGGAGGGCTCCTTGTCACCTGCTTCTGTTGGCTCAG ATACACTCTCTGATTTGGGGATCTCTAGCCTACAGGATGGCTTGGCCTTGCACATAAGGTCCAGCATGTCTGGCTTGCACCTAGTAAAGC AGGGCCGAGACAGAAAGAAAATAGATTCTCAACGAGATTTCACTGTGGCTTCTCCAGCAGAATTTGTTACTCGCTTTGGGGGAAATAAAG TGATTGAGAAGGTTCTTATTGCTAACAATGGCATTGCAGCAGTGAAATGCATGCGGTCTATCCGTAGGTGGTCTTATGAAATGTTTCGAA ATGAACGTGCAATTAGATTCGTTGTCATGGTCACACCTGAAGACCTTAAAGCCAATGCAGAATACATTAAGATGGCAGATCACTATGTGC CAGTGCCTGGAGGACCAAACAACAACAACTATGCAAATGTGGAATTAATTCTTGATATTGCTAAAAGGATCCCAGTACAAGCAGTGTGGG CTGGCTGGGGTCATGCTTCTGAGAATCCCAAACTACCGGAACTTCTCTTGAAAAATGGCATTGCCTTCATGGGTCCTCCAAGCCAGGCCA TGTGGGCTTTAGGGGATAAGATTGCATCTTCCATAGTGGCTCAAACTGCAGGTATCCCAACTCTTCCCTGGAGCGGCAGTGGTCTTCGTG TGGACTGGCAGGAAAATGATTTTTCAAAACGTATCTTAAATGTTCCCCAGGAGCTATATGAAAAAGGTTATGTGAAAGATGTGGATGATG GGCTACAGGCAGCTGAGGAAGTTGGATATCCAGTAATGATCAAGGCCTCAGAGGGAGGAGGAGGGAAGGGAATTAGAAAAGTCAACAATG CAGATGACTTCCCTAATCTCTTCAGACAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAG ATTACCCAAAGAAATAACAATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTA TCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGGGAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGAC AGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAATATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTA TAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAGCAGCTTGTCTTCCCCAACAAGGAGAC GATGAATATTCATTTCAGGGGCAAAACAAAATCCTTTCCAGAAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGTT GGAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGGA TATTCGGCAGGATCTAGAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCAG CCTTTTTAATGCTGCTGGGGTCTTGGTAGAAGCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGCA GCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTGAAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGCT GGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTATGTTGTTGTCTCTATCCTGCTGGAGCTGGC TGAGGGGCCTACCTCTGTCTCTTCCTAACTACAAAAGCCCTTTCTCCCCACAAGCCTCTGGGTTTTCCCTTTACCAGTCTGTCCTCACTG CCATCGCCACTACCATCCTGTCACCAGTGGGACCTCTTTAAAACAAGCAGCCAACCATTCTTTGATGTATCCCATTCGCTCCATGTTAAC >1154_1154_12_ACACA-GSDMB_ACACA_chr17_35627642_ENST00000394406_GSDMB_chr17_38068750_ENST00000520542_length(amino acids)=373AA_BP= MRSFWKWISTQTVRIIRAVRAHFGGIMDEPSPLAQPLELNQHSRFIIGSVSEDNSEDEISNLVKLDLLEEKEGSLSPASVGSDTLSDLGI SSLQDGLALHIRSSMSGLHLVKQGRDRKKIDSQRDFTVASPAEFVTRFGGNKVIEKVLIANNGIAAVKCMRSIRRWSYEMFRNERAIRFV VMVTPEDLKANAEYIKMADHYVPVPGGPNNNNYANVELILDIAKRIPVQAVWAGWGHASENPKLPELLLKNGIAFMGPPSQAMWALGDKI ASSIVAQTAGIPTLPWSGSGLRVDWQENDFSKRILNVPQELYEKGYVKDVDDGLQAAEEVGYPVMIKASEGGGGKGIRKVNNADDFPNLF -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ACACA-GSDMB |
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 ACACA-GSDMB |
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 ACACA-GSDMB |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |