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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACACA-GSDMB (FusionGDB2 ID:HG31TG55876)

Fusion Gene Summary for ACACA-GSDMB

check button Fusion gene summary
Fusion gene informationFusion gene name: ACACA-GSDMB
Fusion gene ID: hg31tg55876
HgeneTgene
Gene symbol

ACACA

GSDMB

Gene ID

31

55876

Gene nameacetyl-CoA carboxylase alphagasdermin B
SynonymsACAC|ACACAD|ACC|ACC1|ACCAGSDMB-1|GSDML|PP4052|PRO2521
Cytomap('ACACA')('GSDMB')

17q12

17q21.1

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alphagasdermin-Bgasdermin-like proteingasderminB-1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000353139, ENST00000360679, 
ENST00000335166, ENST00000394406, 
ENST00000361253, ENST00000416895, 
ENST00000588142, ENST00000589665, 
Fusion gene scores* DoF score44 X 35 X 17=2618012 X 13 X 9=1404
# samples 5115
** MAII scorelog2(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 breakpointACACA(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 CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACACA-GSDMB 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.
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion 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.
all structure
check buttonFusion 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.
all structure

check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4COADTCGA-D5-6929-01AACACAchr17

35627642

-GSDMBchr17

38068750

-


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Fusion Gene ORF analysis for ACACA-GSDMB

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000353139ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000353139ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000353139ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000353139ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000353139ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000353139ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000360679ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000360679ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000360679ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000360679ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000360679ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
Frame-shiftENST00000360679ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000335166ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000335166ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000335166ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000335166ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000335166ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000335166ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000394406ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000394406ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000394406ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000394406ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000394406ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
In-frameENST00000394406ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000361253ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000361253ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000361253ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000361253ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000361253ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000361253ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000416895ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000416895ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000416895ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000416895ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000416895ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000416895ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000588142ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000588142ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000588142ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000588142ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000588142ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000588142ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000589665ENST00000309481ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000589665ENST00000360317ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000589665ENST00000394175ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000589665ENST00000394179ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000589665ENST00000418519ACACAchr17

35627642

-GSDMBchr17

38068750

-
intron-3CDSENST00000589665ENST00000520542ACACAchr17

35627642

-GSDMBchr17

38068750

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000394406ACACAchr1735627642-ENST00000360317GSDMBchr1738068750-243211991131234373
ENST00000394406ACACAchr1735627642-ENST00000394175GSDMBchr1738068750-236611991131234373
ENST00000394406ACACAchr1735627642-ENST00000309481GSDMBchr1738068750-239311991131234373
ENST00000394406ACACAchr1735627642-ENST00000520542GSDMBchr1738068750-240311991131234373
ENST00000394406ACACAchr1735627642-ENST00000418519GSDMBchr1738068750-243011991131234373
ENST00000394406ACACAchr1735627642-ENST00000394179GSDMBchr1738068750-241511991131234373
ENST00000335166ACACAchr1735627642-ENST00000360317GSDMBchr1738068750-2613138014032395330
ENST00000335166ACACAchr1735627642-ENST00000394175GSDMBchr1738068750-2547138014032329308
ENST00000335166ACACAchr1735627642-ENST00000309481GSDMBchr1738068750-2574138014032356317
ENST00000335166ACACAchr1735627642-ENST00000520542GSDMBchr1738068750-2584138014032368321
ENST00000335166ACACAchr1735627642-ENST00000418519GSDMBchr1738068750-2611138014032395330
ENST00000335166ACACAchr1735627642-ENST00000394179GSDMBchr1738068750-2596138014032380325

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000394406ENST00000360317ACACAchr1735627642-GSDMBchr1738068750-0.0037179340.99628204
ENST00000394406ENST00000394175ACACAchr1735627642-GSDMBchr1738068750-0.0039307090.9960693
ENST00000394406ENST00000309481ACACAchr1735627642-GSDMBchr1738068750-0.003726970.99627304
ENST00000394406ENST00000520542ACACAchr1735627642-GSDMBchr1738068750-0.0038719570.996128
ENST00000394406ENST00000418519ACACAchr1735627642-GSDMBchr1738068750-0.0037881380.9962119
ENST00000394406ENST00000394179ACACAchr1735627642-GSDMBchr1738068750-0.0037617220.99623823
ENST00000335166ENST00000360317ACACAchr1735627642-GSDMBchr1738068750-0.0022313430.99776864
ENST00000335166ENST00000394175ACACAchr1735627642-GSDMBchr1738068750-0.0024246330.99757534
ENST00000335166ENST00000309481ACACAchr1735627642-GSDMBchr1738068750-0.0023309720.99766904
ENST00000335166ENST00000520542ACACAchr1735627642-GSDMBchr1738068750-0.0022733620.9977266
ENST00000335166ENST00000418519ACACAchr1735627642-GSDMBchr1738068750-0.0022576080.9977424
ENST00000335166ENST00000394179ACACAchr1735627642-GSDMBchr1738068750-0.0023312390.9976687

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Fusion Genomic Features for ACACA-GSDMB


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.
genomic feature

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Fusion Protein Features for ACACA-GSDMB


check button 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-1056315_3203732384.0Nucleotide bindingATP
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-1056315_3203362347.0Nucleotide bindingATP
TgeneGSDMBchr17:35627642chr17:38068750ENST00000309481110243_27178404.0Coiled coilOntology_term=ECO:0000255
TgeneGSDMBchr17:35627642chr17:38068750ENST00000360317010243_27178417.0Coiled coilOntology_term=ECO:0000255
TgeneGSDMBchr17:35627642chr17:38068750ENST0000039417508243_27178395.0Coiled coilOntology_term=ECO:0000255
TgeneGSDMBchr17:35627642chr17:38068750ENST00000394179110243_27178412.0Coiled coilOntology_term=ECO:0000255
TgeneGSDMBchr17:35627642chr17:38068750ENST00000418519111243_27178417.0Coiled coilOntology_term=ECO:0000255
TgeneGSDMBchr17:35627642chr17:38068750ENST00000520542110243_27178408.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-955117_6182582269.0DomainBiotin carboxylation
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-9551576_19142582269.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-9551918_22342582269.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-955275_4662582269.0DomainATP-grasp
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-955745_8192582269.0DomainBiotinyl-binding
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-1056117_6183732384.0DomainBiotin carboxylation
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-10561576_19143732384.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-10561918_22343732384.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-1056275_4663732384.0DomainATP-grasp
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-1056745_8193732384.0DomainBiotinyl-binding
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-854117_6182782289.0DomainBiotin carboxylation
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-8541576_19142782289.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-8541918_22342782289.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-854275_4662782289.0DomainATP-grasp
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-854745_8192782289.0DomainBiotinyl-binding
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-1056117_6183362347.0DomainBiotin carboxylation
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-10561576_19143362347.0DomainCoA carboxyltransferase N-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-10561918_22343362347.0DomainCoA carboxyltransferase C-terminal
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-1056275_4663362347.0DomainATP-grasp
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-1056745_8193362347.0DomainBiotinyl-binding
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-955315_3202582269.0Nucleotide bindingATP
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-854315_3202782289.0Nucleotide bindingATP
HgeneACACAchr17:35627642chr17:38068750ENST00000335166-9551576_22342582269.0RegionCarboxyltransferase
HgeneACACAchr17:35627642chr17:38068750ENST00000353139-10561576_22343732384.0RegionCarboxyltransferase
HgeneACACAchr17:35627642chr17:38068750ENST00000360679-8541576_22342782289.0RegionCarboxyltransferase
HgeneACACAchr17:35627642chr17:38068750ENST00000394406-10561576_22343362347.0RegionCarboxyltransferase
TgeneGSDMBchr17:35627642chr17:38068750ENST000003094811101_27578404.0RegionTriggers pyroptosis
TgeneGSDMBchr17:35627642chr17:38068750ENST000003603170101_27578417.0RegionTriggers pyroptosis
TgeneGSDMBchr17:35627642chr17:38068750ENST00000394175081_27578395.0RegionTriggers pyroptosis
TgeneGSDMBchr17:35627642chr17:38068750ENST000003941791101_27578412.0RegionTriggers pyroptosis
TgeneGSDMBchr17:35627642chr17:38068750ENST000004185191111_27578417.0RegionTriggers pyroptosis
TgeneGSDMBchr17:35627642chr17:38068750ENST000005205421101_27578408.0RegionTriggers pyroptosis


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Fusion Gene Sequence for ACACA-GSDMB


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ACACA-GSDMB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACACA-GSDMB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACACAC0018801Heart failure1CTD_human
HgeneACACAC0018802Congestive heart failure1CTD_human
HgeneACACAC0023212Left-Sided Heart Failure1CTD_human
HgeneACACAC0235527Heart Failure, Right-Sided1CTD_human
HgeneACACAC1959583Myocardial Failure1CTD_human
HgeneACACAC1961112Heart Decompensation1CTD_human
HgeneACACAC2239176Liver carcinoma1CTD_human
TgeneC0004096Asthma1CTD_human