Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CARD8-BCKDHA (FusionGDB2 ID:HG22900TG593)

Fusion Gene Summary for CARD8-BCKDHA

check button Fusion gene summary
Fusion gene informationFusion gene name: CARD8-BCKDHA
Fusion gene ID: hg22900tg593
HgeneTgene
Gene symbol

CARD8

BCKDHA

Gene ID

22900

593

Gene namecaspase recruitment domain family member 8branched chain keto acid dehydrogenase E1 subunit alpha
SynonymsCARDINAL|DACAR|DAKAR|NDPP|NDPP1|TUCANBCKDE1A|MSU|MSUD1|OVD1A
Cytomap('CARD8')('BCKDHA')

19q13.33

19q13.2

Type of geneprotein-codingprotein-coding
Descriptioncaspase recruitment domain-containing protein 8CARD inhibitor of NF-kappaB-activating ligandsapoptotic protein NDPP1tumor up-regulated CARD-containing antagonist of CASP9tumor up-regulated CARD-containing antagonist of caspase nine2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial2-oxoisovalerate dehydrogenase (lipoamide)BCKDH E1-alphabranched chain keto acid dehydrogenase E1 alpha proteinbranched chain keto acid dehydrogenase E1, alpha polypeptidebranched-chain alpha
Modification date2020032020200313
UniProtAcc.

P12694

Ensembl transtripts involved in fusion geneENST00000391898, ENST00000447740, 
ENST00000519332, ENST00000519940, 
ENST00000520007, ENST00000520015, 
ENST00000520153, ENST00000520753, 
ENST00000521613, ENST00000522431, 
ENST00000357778, ENST00000359009, 
ENST00000600800, 
Fusion gene scores* DoF score12 X 16 X 6=11523 X 2 X 3=18
# samples 143
** MAII scorelog2(14/1152*10)=-3.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CARD8 [Title/Abstract] AND BCKDHA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCARD8(48744219)-BCKDHA(41916542), # samples:3
Anticipated loss of major functional domain due to fusion event.CARD8-BCKDHA 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.
CARD8-BCKDHA 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.
CARD8-BCKDHA 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.
CARD8-BCKDHA 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.
CARD8-BCKDHA seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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
HgeneCARD8

GO:0031665

negative regulation of lipopolysaccharide-mediated signaling pathway

11821383

HgeneCARD8

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

11551959

HgeneCARD8

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

11821383|15030775

HgeneCARD8

GO:0050713

negative regulation of interleukin-1 beta secretion

11821383

HgeneCARD8

GO:0050718

positive regulation of interleukin-1 beta secretion

15030775

HgeneCARD8

GO:0097340

inhibition of cysteine-type endopeptidase activity

11821383

TgeneBCKDHA

GO:0009083

branched-chain amino acid catabolic process

7883996


check buttonFusion gene breakpoints across CARD8 (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 BCKDHA (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
ChimerDB4BRCATCGA-A8-A097-01ACARD8chr19

48744219

-BCKDHAchr19

41916542

+


Top

Fusion Gene ORF analysis for CARD8-BCKDHA

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
5CDS-intronENST00000391898ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000391898ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000447740ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000447740ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000519332ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000519332ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000519940ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000519940ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520007ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520007ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520015ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520015ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520153ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520153ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520753ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000520753ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000521613ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000521613ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000522431ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5CDS-intronENST00000522431ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-3CDSENST00000357778ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-3CDSENST00000357778ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-3CDSENST00000359009ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-3CDSENST00000359009ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-intronENST00000357778ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-intronENST00000357778ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-intronENST00000359009ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
5UTR-intronENST00000359009ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000519332ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000519332ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000519940ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000519940ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000520007ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000520007ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000520753ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000520753ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000521613ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
Frame-shiftENST00000521613ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000391898ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000391898ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000447740ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000447740ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000520015ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000520015ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000520153ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000520153ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000522431ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
In-frameENST00000522431ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
intron-3CDSENST00000600800ENST00000269980CARD8chr19

48744219

-BCKDHAchr19

41916542

+
intron-3CDSENST00000600800ENST00000595085CARD8chr19

48744219

-BCKDHAchr19

41916542

+
intron-intronENST00000600800ENST00000457836CARD8chr19

48744219

-BCKDHAchr19

41916542

+
intron-intronENST00000600800ENST00000535632CARD8chr19

48744219

-BCKDHAchr19

41916542

+

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)
ENST00000391898CARD8chr1948744219-ENST00000595085BCKDHAchr1941916542+17251021351331398
ENST00000391898CARD8chr1948744219-ENST00000269980BCKDHAchr1941916542+17291021351331398
ENST00000447740CARD8chr1948744219-ENST00000595085BCKDHAchr1941916542+18221992321428398
ENST00000447740CARD8chr1948744219-ENST00000269980BCKDHAchr1941916542+18261992321428398
ENST00000520153CARD8chr1948744219-ENST00000595085BCKDHAchr1941916542+19122893221518398
ENST00000520153CARD8chr1948744219-ENST00000269980BCKDHAchr1941916542+19162893221518398
ENST00000520015CARD8chr1948744219-ENST00000595085BCKDHAchr1941916542+18081852181414398
ENST00000520015CARD8chr1948744219-ENST00000269980BCKDHAchr1941916542+18121852181414398
ENST00000522431CARD8chr1948744219-ENST00000595085BCKDHAchr1941916542+19743513841580398
ENST00000522431CARD8chr1948744219-ENST00000269980BCKDHAchr1941916542+19783513841580398

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
ENST00000391898ENST00000595085CARD8chr1948744219-BCKDHAchr1941916542+0.0019119420.99808806
ENST00000391898ENST00000269980CARD8chr1948744219-BCKDHAchr1941916542+0.0019787110.99802125
ENST00000447740ENST00000595085CARD8chr1948744219-BCKDHAchr1941916542+0.0018630380.998137
ENST00000447740ENST00000269980CARD8chr1948744219-BCKDHAchr1941916542+0.0019282990.99807173
ENST00000520153ENST00000595085CARD8chr1948744219-BCKDHAchr1941916542+0.001974690.9980253
ENST00000520153ENST00000269980CARD8chr1948744219-BCKDHAchr1941916542+0.0020278360.9979722
ENST00000520015ENST00000595085CARD8chr1948744219-BCKDHAchr1941916542+0.001863340.99813664
ENST00000520015ENST00000269980CARD8chr1948744219-BCKDHAchr1941916542+0.0019387340.99806124
ENST00000522431ENST00000595085CARD8chr1948744219-BCKDHAchr1941916542+0.0027390170.9972609
ENST00000522431ENST00000269980CARD8chr1948744219-BCKDHAchr1941916542+0.0027876640.99721235

Top

Fusion Genomic Features for CARD8-BCKDHA


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)
CARD8chr1948744218-BCKDHAchr1941916541+1.13E-070.9999999
CARD8chr1948744218-BCKDHAchr1941916541+1.13E-070.9999999

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

check buttonDistribution 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.
genomic feature of top 1%

Top

Fusion Protein Features for CARD8-BCKDHA


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/chr19:48744219/chr19:41916542)
- 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
.BCKDHA

P12694

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: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).

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
TgeneBCKDHAchr19:48744219chr19:41916542ENST0000026998009157_15936446.0RegionThiamine pyrophosphate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCARD8chr19:48744219chr19:41916542ENST00000359009-210340_4300432.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000359009-21056_3400432.0DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000391898-111340_43019538.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000391898-11156_34019538.0DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000447740-211340_43019488.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000447740-21156_34019488.0DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000519940-414340_43019538.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000519940-41456_34019538.0DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000520015-211340_43019546.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000520015-21156_34019546.0DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000520153-312340_43019488.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000520153-31256_34019488.0DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000520753-413340_43019840.3333333333334DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000520753-41356_34019840.3333333333334DomainFIIND
HgeneCARD8chr19:48744219chr19:41916542ENST00000521613-312340_43019488.0DomainCARD
HgeneCARD8chr19:48744219chr19:41916542ENST00000521613-31256_34019488.0DomainFIIND


Top

Fusion Gene Sequence for CARD8-BCKDHA


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.
>13033_13033_1_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000391898_BCKDHA_chr19_41916542_ENST00000269980_length(transcript)=1729nt_BP=102nt
GGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGA
GCTGCCGAGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATA
GATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGC
GAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCT
CAGCGGCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGAC
CTGGTGTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATC
AGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAG
ATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGT
GAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCC
ACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGAT
GTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGG
ATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCC
CGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGATGGAG
GCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAG
CAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCC
CCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTC
CCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCA
GTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCC
CCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTC
TGCGCCTGGCTCTCTACCA

>13033_13033_1_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000391898_BCKDHA_chr19_41916542_ENST00000269980_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_2_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000391898_BCKDHA_chr19_41916542_ENST00000595085_length(transcript)=1725nt_BP=102nt
GGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGA
GCTGCCGAGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATA
GATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGC
GAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCT
CAGCGGCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGAC
CTGGTGTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATC
AGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAG
ATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGT
GAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCC
ACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGAT
GTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGG
ATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCC
CGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGATGGAG
GCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAG
CAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCC
CCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTC
CCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCA
GTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCC
CCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTC
TGCGCCTGGCTCTCT

>13033_13033_2_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000391898_BCKDHA_chr19_41916542_ENST00000595085_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_3_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000447740_BCKDHA_chr19_41916542_ENST00000269980_length(transcript)=1826nt_BP=199nt
TGACCAAGAGGAACAGAACACAGAGCAGCCTGGCAGTGTCCAAGCAACAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAAC
TCACATGGGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTG
AGGAAGAGCTGCCGAGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGA
GTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAA
CCCCAGCGAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTA
TGAGTCTCAGCGGCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAA
CACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGG
CAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGC
CACGCAGATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGC
AGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGC
CATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGG
TAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGAC
CTACAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCC
CATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGT
GATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCT
CCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAG
CCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAG
TCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATC
TGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACT
AGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACT
GCATCTCTGCGCCTGGCTCTCTACCA

>13033_13033_3_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000447740_BCKDHA_chr19_41916542_ENST00000269980_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_4_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000447740_BCKDHA_chr19_41916542_ENST00000595085_length(transcript)=1822nt_BP=199nt
TGACCAAGAGGAACAGAACACAGAGCAGCCTGGCAGTGTCCAAGCAACAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAAC
TCACATGGGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTG
AGGAAGAGCTGCCGAGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGA
GTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAA
CCCCAGCGAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTA
TGAGTCTCAGCGGCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAA
CACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGG
CAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGC
CACGCAGATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGC
AGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGC
CATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGG
TAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGAC
CTACAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCC
CATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGT
GATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCT
CCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAG
CCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAG
TCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATC
TGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACT
AGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACT
GCATCTCTGCGCCTGGCTCTCT

>13033_13033_4_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000447740_BCKDHA_chr19_41916542_ENST00000595085_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_5_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520015_BCKDHA_chr19_41916542_ENST00000269980_length(transcript)=1812nt_BP=185nt
AGAACACAGAGCAGCCTGGCAGTGTCCAAGCAACAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAACTCACATGGGTAAAA
AAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCG
AGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGT
TGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACC
CCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGC
AGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGT
TTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATCAGTGACT
TGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTC
AGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGG
ACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCA
CCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTG
CCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGATCGGGC
ACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGC
GGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGATGGAGGCCTTTG
AGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGG
AGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCA
TCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAA
AATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTG
AGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGG
GCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCT
GGCTCTCTACCA

>13033_13033_5_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520015_BCKDHA_chr19_41916542_ENST00000269980_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_6_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520015_BCKDHA_chr19_41916542_ENST00000595085_length(transcript)=1808nt_BP=185nt
AGAACACAGAGCAGCCTGGCAGTGTCCAAGCAACAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAACTCACATGGGTAAAA
AAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCG
AGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGT
TGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACC
CCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGC
AGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGT
TTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATCAGTGACT
TGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTC
AGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGG
ACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCA
CCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTG
CCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGATCGGGC
ACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGC
GGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGATGGAGGCCTTTG
AGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGG
AGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCA
TCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAA
AATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTG
AGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGG
GCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCT
GGCTCTCT

>13033_13033_6_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520015_BCKDHA_chr19_41916542_ENST00000595085_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_7_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520153_BCKDHA_chr19_41916542_ENST00000269980_length(transcript)=1916nt_BP=289nt
AGAGCAGCCTGGCAGTGTCCAAGCAACAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAACTCACATGAGAAGGAGGGCTGT
CTGAGATTCGAGGGAAACAAGCTCTCAGGACTTCCGGTCGCCATGATGGCTGTGGGCGGTAAACGCGGTTAGTGCAAGCATCTGGGCCAT
CTTCAATGGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTG
AGGAAGAGCTGCCGAGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGA
GTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAA
CCCCAGCGAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTA
TGAGTCTCAGCGGCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAA
CACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGG
CAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGC
CACGCAGATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGC
AGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGC
CATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGG
TAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGAC
CTACAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCC
CATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGT
GATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCT
CCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAG
CCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAG
TCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATC
TGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACT
AGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACT
GCATCTCTGCGCCTGGCTCTCTACCA

>13033_13033_7_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520153_BCKDHA_chr19_41916542_ENST00000269980_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_8_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520153_BCKDHA_chr19_41916542_ENST00000595085_length(transcript)=1912nt_BP=289nt
AGAGCAGCCTGGCAGTGTCCAAGCAACAAGCCTCCGCTCCTCCTTCCTGCACCCTGGGGCTCCTGAAACTCACATGAGAAGGAGGGCTGT
CTGAGATTCGAGGGAAACAAGCTCTCAGGACTTCCGGTCGCCATGATGGCTGTGGGCGGTAAACGCGGTTAGTGCAAGCATCTGGGCCAT
CTTCAATGGTAAAAAAGATACAGTAAAGACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTG
AGGAAGAGCTGCCGAGACGCACCCCCCCAGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGA
GTTTATAGATAAGTTGGAATTCATCCAGCCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAA
CCCCAGCGAGGACCCCCACCTGCCGAAGGAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTA
TGAGTCTCAGCGGCAGGGCCGGATCTCCTTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAA
CACGGACCTGGTGTTTGGCCAGTACCGGGAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGG
CAACATCAGTGACTTGGGCAAGGGGCGCCAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGC
CACGCAGATCCCTCAGGCGGTGGGGGCGGCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGC
AGCCAGTGAGGGGGACGCCCATGCCGGCTTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGC
CATCTCCACGCCCACCTCTGAGCAGTATCGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGG
TAATGATGTGTTTGCCGTATACAACGCCACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGAC
CTACAGGATCGGGCACCACAGCACCAGTGACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCC
CATCTCCCGGCTGCGGCACTATCTGCTGAGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGT
GATGGAGGCCTTTGAGCAGGCCGAGCGGAAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCT
CCGCAAGCAGCAGGAGTCTCTGGCCCGCCACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAG
CCCACCCCCACCCATCCTCAGCTACCCCGAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAG
TCAGCTCCCTCTAAAATACTCAGCGGCCAGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATC
TGCAGCAGTTGCTGAGGCTCCGTCAGCCCCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACT
AGAAGCCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACT
GCATCTCTGCGCCTGGCTCTCT

>13033_13033_8_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000520153_BCKDHA_chr19_41916542_ENST00000595085_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_9_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000522431_BCKDHA_chr19_41916542_ENST00000269980_length(transcript)=1978nt_BP=351nt
GGGGCTCCTGAAACTCACATGGTAAGCGCTGCAGAAACGCAGCAGGTGGTGACTTTAGGGGAGGACAGGCCAAATGGGAGAATCCCCTTA
AGCTTCGGTTTCTCTAGTTCTCAACTTCTTTTGAAATAATGTTCATAGAGAAGGAGGGCTGTCTGAGATTCGAGGGAAACAAGCTCTCAG
GACTTCCGGTCGCCATGATGGCTGTGGGCGGTAAACGCGGTTAGTGCAAGCATCTGGGCCATCTTCAATGGTAAAAAAGATACAGTAAAG
ACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGCACCCCCCC
AGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAG
CCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACCTGCCGAAG
GAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGGCCGGATCTCC
TTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGG
GAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATCAGTGACTTGGGCAAGGGGCGC
CAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGCGGTGGGGGCG
GCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGC
TTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTAT
CGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCC
ACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGATCGGGCACCACAGCACCAGT
GACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTG
AGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGG
AAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGC
CACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCC
GAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCC
AGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCC
CCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACA
TGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCTACCA

>13033_13033_9_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000522431_BCKDHA_chr19_41916542_ENST00000269980_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------
>13033_13033_10_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000522431_BCKDHA_chr19_41916542_ENST00000595085_length(transcript)=1974nt_BP=351nt
GGGGCTCCTGAAACTCACATGGTAAGCGCTGCAGAAACGCAGCAGGTGGTGACTTTAGGGGAGGACAGGCCAAATGGGAGAATCCCCTTA
AGCTTCGGTTTCTCTAGTTCTCAACTTCTTTTGAAATAATGTTCATAGAGAAGGAGGGCTGTCTGAGATTCGAGGGAAACAAGCTCTCAG
GACTTCCGGTCGCCATGATGGCTGTGGGCGGTAAACGCGGTTAGTGCAAGCATCTGGGCCATCTTCAATGGTAAAAAAGATACAGTAAAG
ACATAAATACCACATTTGACAAATGGAAAAAAAGGAGTGTCCAGAAAAGAGTAGCAGCAGTGAGGAAGAGCTGCCGAGACGCACCCCCCC
AGGCAGCAGCAGCAGTTTTCATCTCTGGATGACAAGCCCCAGTTCCCAGGGGCCTCGGCGGAGTTTATAGATAAGTTGGAATTCATCCAG
CCCAACGTCATCTCTGGAATCCCCATCTACCGCGTCATGGACCGGCAAGGCCAGATCATCAACCCCAGCGAGGACCCCCACCTGCCGAAG
GAGAAGGTGCTGAAGCTCTACAAGAGCATGACACTGCTTAACACCATGGACCGCATCCTCTATGAGTCTCAGCGGCAGGGCCGGATCTCC
TTCTACATGACCAACTATGGTGAGGAGGGCACGCACGTGGGGAGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAGTACCGG
GAGGCAGGTGTGCTGATGTATCGGGACTACCCCCTGGAACTATTCATGGCCCAGTGCTATGGCAACATCAGTGACTTGGGCAAGGGGCGC
CAGATGCCTGTCCACTACGGCTGCAAGGAACGCCACTTCGTCACTATCTCCTCTCCACTGGCCACGCAGATCCCTCAGGCGGTGGGGGCG
GCGTACGCAGCCAAGCGGGCCAATGCCAACAGGGTCGTCATCTGTTACTTCGGCGAGGGGGCAGCCAGTGAGGGGGACGCCCATGCCGGC
TTCAACTTCGCTGCCACACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCATCTCCACGCCCACCTCTGAGCAGTAT
CGCGGCGATGGCATTGCAGCACGAGGCCCCGGGTATGGCATCATGTCAATCCGCGTGGATGGTAATGATGTGTTTGCCGTATACAACGCC
ACAAAGGAGGCCCGACGGCGGGCTGTGGCAGAGAACCAGCCCTTCCTCATCGAGGCCATGACCTACAGGATCGGGCACCACAGCACCAGT
GACGACAGTTCAGCGTACCGCTCGGTGGATGAGGTCAATTACTGGGATAAACAGGACCACCCCATCTCCCGGCTGCGGCACTATCTGCTG
AGCCAAGGCTGGTGGGATGAGGAGCAGGAGAAGGCCTGGAGGAAGCAGTCCCGCAGGAAGGTGATGGAGGCCTTTGAGCAGGCCGAGCGG
AAGCCCAAACCCAACCCCAACCTACTCTTCTCAGACGTGTATCAGGAGATGCCCGCCCAGCTCCGCAAGCAGCAGGAGTCTCTGGCCCGC
CACCTGCAGACCTACGGGGAGCACTACCCACTGGATCACTTCGATAAGTGAGACCTGCTCAGCCCACCCCCACCCATCCTCAGCTACCCC
GAGAGGTAGCCCCACTCTAAGGGGAGCAGGGGGACCTGACAGCACACCACTGTCTTCCCCAGTCAGCTCCCTCTAAAATACTCAGCGGCC
AGGGCGGCTGCCACTCTTCACCCCTGCTCCTCCCGGCTGTTACATTGTCAGGGGACAGCATCTGCAGCAGTTGCTGAGGCTCCGTCAGCC
CCCTCTTCACCTGTTGTTACAGTGCCTTCTCCCAGGGGCTGGGTGAGGGCACATTCAGGACTAGAAGCCCCTCTGGGCATGGGGTGGACA
TGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGCCAGCAGAGGTCACGAATAAACTGCATCTCTGCGCCTGGCTCTCT

>13033_13033_10_CARD8-BCKDHA_CARD8_chr19_48744219_ENST00000522431_BCKDHA_chr19_41916542_ENST00000595085_length(amino acids)=398AA_BP=
MDDKPQFPGASAEFIDKLEFIQPNVISGIPIYRVMDRQGQIINPSEDPHLPKEKVLKLYKSMTLLNTMDRILYESQRQGRISFYMTNYGE
EGTHVGSAAALDNTDLVFGQYREAGVLMYRDYPLELFMAQCYGNISDLGKGRQMPVHYGCKERHFVTISSPLATQIPQAVGAAYAAKRAN
ANRVVICYFGEGAASEGDAHAGFNFAATLECPIIFFCRNNGYAISTPTSEQYRGDGIAARGPGYGIMSIRVDGNDVFAVYNATKEARRRA
VAENQPFLIEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRHYLLSQGWWDEEQEKAWRKQSRRKVMEAFEQAERKPKPNPNL
LFSDVYQEMPAQLRKQQESLARHLQTYGEHYPLDHFDK

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for CARD8-BCKDHA


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


Top

Related Drugs for CARD8-BCKDHA


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

Top

Related Diseases for CARD8-BCKDHA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCARD8C0018099Gout1CTD_human
HgeneCARD8C0028797Occupational Diseases1CTD_human
HgeneCARD8C0032226Pleural Diseases1CTD_human
TgeneC0024776Maple Syrup Urine Disease11CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1855369Maple Syrup Urine Disease, Type IA1GENOMICS_ENGLAND