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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:ABCD3-DPYD (FusionGDB2 ID:HG5825TG1806)

Fusion Gene Summary for ABCD3-DPYD

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCD3-DPYD
Fusion gene ID: hg5825tg1806
HgeneTgene
Gene symbol

ABCD3

DPYD

Gene ID

5825

1806

Gene nameATP binding cassette subfamily D member 3dihydropyrimidine dehydrogenase
SynonymsABC43|CBAS5|PMP70|PXMP1|ZWS2DHP|DHPDHASE|DPD
Cytomap('ABCD3')('DPYD')

1p21.3

1p21.3

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family D member 370 kDa peroxisomal membrane proteinATP-binding cassette, sub-family D (ALD), member 3Peroxisomal membrane protein-1 (70kD)dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))peroxisodihydropyrimidine dehydrogenase [NADP(+)]dihydrothymine dehydrogenasedihydrouracil dehydrogenase
Modification date2020031320200313
UniProtAcc.

Q12882

Ensembl transtripts involved in fusion geneENST00000484213, ENST00000370214, 
ENST00000394233, ENST00000454898, 
ENST00000536817, ENST00000315713, 
Fusion gene scores* DoF score6 X 5 X 4=12012 X 12 X 7=1008
# samples 613
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1008*10)=-2.95491211047146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCD3 [Title/Abstract] AND DPYD [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCD3(94956803)-DPYD(97981497), # samples:3
Anticipated loss of major functional domain due to fusion event.ABCD3-DPYD 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.
ABCD3-DPYD 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.
ABCD3-DPYD 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.
ABCD3-DPYD seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneABCD3

GO:0007031

peroxisome organization

9425230

TgeneDPYD

GO:0006210

thymine catabolic process

10410956

TgeneDPYD

GO:0006212

uracil catabolic process

1512248|18075467

TgeneDPYD

GO:0006214

thymidine catabolic process

1512248


check buttonFusion gene breakpoints across ABCD3 (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 DPYD (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
ChimerDB4PRADTCGA-CH-5764-01AABCD3chr1

94956803

-DPYDchr1

97981497

-
ChimerDB4PRADTCGA-CH-5764-01AABCD3chr1

94956803

+DPYDchr1

97981497

-
ChimerDB4PRADTCGA-CH-5764ABCD3chr1

94956803

+DPYDchr1

97981497

-


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Fusion Gene ORF analysis for ABCD3-DPYD

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
3UTR-3CDSENST00000484213ENST00000370192ABCD3chr1

94956803

+DPYDchr1

97981497

-
3UTR-intronENST00000484213ENST00000306031ABCD3chr1

94956803

+DPYDchr1

97981497

-
3UTR-intronENST00000484213ENST00000423006ABCD3chr1

94956803

+DPYDchr1

97981497

-
3UTR-intronENST00000484213ENST00000474241ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000370214ENST00000306031ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000370214ENST00000423006ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000370214ENST00000474241ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000394233ENST00000306031ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000394233ENST00000423006ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000394233ENST00000474241ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000454898ENST00000306031ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000454898ENST00000423006ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000454898ENST00000474241ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000536817ENST00000306031ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000536817ENST00000423006ABCD3chr1

94956803

+DPYDchr1

97981497

-
5CDS-intronENST00000536817ENST00000474241ABCD3chr1

94956803

+DPYDchr1

97981497

-
In-frameENST00000370214ENST00000370192ABCD3chr1

94956803

+DPYDchr1

97981497

-
In-frameENST00000394233ENST00000370192ABCD3chr1

94956803

+DPYDchr1

97981497

-
In-frameENST00000454898ENST00000370192ABCD3chr1

94956803

+DPYDchr1

97981497

-
In-frameENST00000536817ENST00000370192ABCD3chr1

94956803

+DPYDchr1

97981497

-
intron-3CDSENST00000315713ENST00000370192ABCD3chr1

94956803

+DPYDchr1

97981497

-
intron-intronENST00000315713ENST00000306031ABCD3chr1

94956803

+DPYDchr1

97981497

-
intron-intronENST00000315713ENST00000423006ABCD3chr1

94956803

+DPYDchr1

97981497

-
intron-intronENST00000315713ENST00000474241ABCD3chr1

94956803

+DPYDchr1

97981497

-

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)
ENST00000394233ABCD3chr194956803+ENST00000370192DPYDchr197981497-394511581022711869
ENST00000454898ABCD3chr194956803+ENST00000370192DPYDchr197981497-431115246630771003
ENST00000536817ABCD3chr194956803+ENST00000370192DPYDchr197981497-420014131322966944
ENST00000370214ABCD3chr194956803+ENST00000370192DPYDchr197981497-41971410242963979

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
ENST00000394233ENST00000370192ABCD3chr194956803+DPYDchr197981497-0.00011080.99988914
ENST00000454898ENST00000370192ABCD3chr194956803+DPYDchr197981497-0.0001326430.9998673
ENST00000536817ENST00000370192ABCD3chr194956803+DPYDchr197981497-0.00021460.99978536
ENST00000370214ENST00000370192ABCD3chr194956803+DPYDchr197981497-6.29E-050.99993706

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Fusion Genomic Features for ABCD3-DPYD


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 ABCD3-DPYD


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/chr1:94956803/chr1:97981497)
- 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
.DPYD

Q12882

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: Involved in pyrimidine base degradation. Catalyzes the reduction of uracil and thymine. Also involved the degradation of the chemotherapeutic drug 5-fluorouracil.

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
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+162385_372462660.0DomainABC transmembrane type-1
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+16231_124462660.0RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+12191_124352550.0RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+1623126_146462660.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+1623224_244462660.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+1623313_333462660.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+162384_104462660.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+1219126_146352550.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+1219224_244352550.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+1219313_333352550.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+121984_104352550.0TransmembraneHelical
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123944_9765081026.0Domain4Fe-4S ferredoxin-type 2
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123978_10075081026.0Domain4Fe-4S ferredoxin-type 3
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123574_5755081026.0Nucleotide bindingFMN
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123793_7955081026.0Nucleotide bindingFMN
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123816_8175081026.0Nucleotide bindingFMN
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123668_6705081026.0RegionSubstrate binding
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123736_7375081026.0RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+19440_6590237.0DomainABC transporter
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+1985_3720237.0DomainABC transmembrane type-1
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+1623440_659462660.0DomainABC transporter
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+1219440_659352550.0DomainABC transporter
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+121985_372352550.0DomainABC transmembrane type-1
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+19473_4800237.0Nucleotide bindingATP
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+1623473_480462660.0Nucleotide bindingATP
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+1219473_480352550.0Nucleotide bindingATP
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+191_1240237.0RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+19126_1460237.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+19224_2440237.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+19313_3330237.0TransmembraneHelical
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+1984_1040237.0TransmembraneHelical
TgeneDPYDchr1:94956803chr1:97981497ENST00000370192112369_1005081026.0Domain4Fe-4S ferredoxin-type 1
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123194_1985081026.0Nucleotide bindingFAD
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123218_2265081026.0Nucleotide bindingFAD
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123340_3435081026.0Nucleotide bindingNADP
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123364_3655081026.0Nucleotide bindingNADP
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123437_4395081026.0Nucleotide bindingNADP
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123480_4895081026.0Nucleotide bindingFAD
TgeneDPYDchr1:94956803chr1:97981497ENST000003701921123481_4875081026.0Nucleotide bindingNADP


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Fusion Gene Sequence for ABCD3-DPYD


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.
>325_325_1_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000370214_DPYD_chr1_97981497_ENST00000370192_length(transcript)=4197nt_BP=1410nt
CGGCTCGCTGGTACCGGCAGTGCCATGGCGGCCTTCAGCAAGTACTTGACGGCGCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTG
CTCTGCCTGCTCCACAAGCGGCGCCGCGCCCTCGGCCTGCACGGTAAGAAAAGTGGAAAACCACCATTACAGAACAATGAGAAAGAGGGG
AAAAAGGAGCGAGCTGTGGTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATGGTCCCTAGAACATTTTGTAAAGAG
ACAGGTTACTTGGTACTTATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATTCAAAATGGGACACTAATTGAAAGT
GGTATCATTGGTCGTAGCAGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTTATCTCTCTGGTTAATAACTTC
TTGAAGTATGGGTTAAATGAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAGGAGTATCTTCAAGCTTTCACATAT
TATAAAATGGGGAATCTGGACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTAGTCGAT
CTGTATTCAAATCTTAGTAAGCCATTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCAATTGGAGCTCAGGGCCCAGCGAGC
ATGATGGCCTACTTGGTTGTTTCTGGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATGACAATAACTGAGCAAAAGTATGAA
GGAGAATATAGATATGTTAATTCTCGGCTCATCACAAACAGTGAAGAAATTGCCTTTTACAATGGGAATAAAAGAGAAAAGCAGACAGTC
CACTCAGTCTTCCGAAAACTGGTGGAACACCTACATAATTTCATTTTGTTTCGGTTTTCAATGGGCTTCATTGATAGTATTATTGCCAAA
TACCTTGCCACTGTTGTTGGTTACCTAGTTGTCAGTCGCCCTTTCTTAGATTTGTCTCATCCTCGACATCTCAAGAGTACACATTCGGAA
CTTCTAGAGGATTACTACCAAAGTGGAAGAATGCTTTTGCGAATGTCTCAAGCTCTGGGTCGAATAGTTTTGGCTGGGCGTGAAATGACT
AGATTGGCCGGTTTTACTGCTCGGATTACAGAATTAATGCAAGTACTGAAGGATTTAAATCATGGCAAATATGAGCGCACAATGGTCTCA
CAACAGGAAAAGGGTATTGAAGGAGTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATTATTGCAGATAACATTATAAAGTTT
GATCATGTTCCTTTAGCAACGCCAAATGGAGATGTTTTGATCCGAGACCTTAATTTTGAATCACAATATGGAGCTTCCGTTTCTGCCAAG
CCTGAACTACCCCTCTTTTACACTCCTATTGATCTGGTGGACATTAGTGTAGAAATGGCCGGATTGAAGTTTATAAATCCTTTTGGTCTT
GCTAGCGCAACTCCAGCCACCAGCACATCAATGATTCGAAGAGCTTTTGAAGCTGGATGGGGTTTTGCCCTCACCAAAACTTTCTCTCTT
GATAAGGACATTGTGACAAATGTTTCCCCCAGAATCATCCGGGGAACCACCTCTGGCCCCATGTATGGCCCTGGACAAAGCTCCTTTCTG
AATATTGAGCTCATCAGTGAGAAAACGGCTGCATATTGGTGTCAAAGTGTCACTGAACTAAAGGCTGACTTTCCAGACAACATTGTGATT
GCTAGCATTATGTGCAGTTACAATAAAAATGACTGGACGGAACTTGCCAAGAAGTCTGAGGATTCTGGAGCAGATGCCCTGGAGTTAAAT
TTATCATGTCCACATGGCATGGGAGAAAGAGGAATGGGCCTGGCCTGTGGGCAGGATCCAGAGCTGGTGCGGAACATCTGCCGCTGGGTT
AGGCAAGCTGTTCAGATTCCTTTTTTTGCCAAGCTGACCCCAAATGTCACTGATATTGTGAGCATCGCAAGAGCTGCAAAGGAAGGTGGT
GCCAATGGCGTTACAGCCACCAACACTGTCTCAGGTCTGATGGGATTAAAATCTGATGGCACACCTTGGCCAGCAGTGGGGATTGCAAAG
CGAACTACATATGGAGGAGTGTCTGGGACAGCAATCAGACCTATTGCTTTGAGAGCTGTGACCTCCATTGCTCGTGCTCTGCCTGGATTT
CCCATTTTGGCTACTGGTGGAATTGACTCTGCTGAAAGTGGTCTTCAGTTTCTCCATAGTGGTGCTTCCGTCCTCCAGGTATGCAGTGCC
ATTCAGAATCAGGATTTCACTGTGATCGAAGACTACTGCACTGGCCTCAAAGCCCTGCTTTATCTGAAAAGCATTGAAGAACTACAAGAC
TGGGATGGACAGAGTCCAGCTACTGTGAGTCACCAGAAAGGGAAACCAGTTCCACGTATAGCTGAACTCATGGACAAGAAACTGCCAAGT
TTTGGACCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAAAATGTAGCTTTTTCACCACTTAAG
AGAAACTGTTTTATCCCCAAAAGGCCTATTCCTACCATCAAGGATGTAATAGGAAAAGCACTGCAGTACCTTGGAACATTTGGTGAATTG
AGCAACGTAGAGCAAGTTGTGGCTATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTACATGACCTGTAATGATTCTGGCTAC
CAGGCTATACAGTTTGATCCAGAAACCCACCTGCCCACCATAACCGACACTTGTACAGGCTGTACTCTGTGTCTCAGTGTTTGCCCTATT
GTCGACTGCATCAAAATGGTTTCCAGGACAACACCTTATGAACCAAAGAGAGGCGTACCCTTATCTGTGAATCCGGTGTGTTAAGGTGAT
TTGTGAAACAGTTGCTGTGAACTTTCATGTCACCTACATATGCTGATCTTTTAAAATCATGATCCTTGTGTTCAGCTCTTTCCAAATTAA
AACAAATATACATTTTCTAAATAAAAATATGTAATTTCAAAATACATTTGTAAGTGTAAAAAATGTCTCATGTCAATGACCATTCAATTA
GTGGTCATAAAATAGAATAATTCTTTTCTGAGGATAGTAGTTAAATAACTGTGTGGCAGTTAATTGGATGTTCACTGCCAGTTGTCTTAT
GTGAAAAATTAACTTTTTTGTGGCAATTAGTGTGACAGTTTCCAAATTGCCCTATGCTGTGCTCCATATTTGATTTCTAATTGTAAGTGA
AATTAAGCATTTTGAAACAAAGTACTCTTTAACATACAAGAAAATGTATCCAAGGAAACATTTTATCATTAAAAATTACCTTTAATTTTA
ATGCTGTTTCTAAGAAAATGTAGTTAGCTCCATAAAGTACAAATGAAGAAAGTCAAAAAATTATTTGCTATGGCAGGATAAGAAAGCCTA
AAATTGAGTTTGTAGAACTTTATTAAGTAAAATCCCCTTCGCTGAAATTGCTTATTTTTGGTGTTGGATAGAGGATAGGGAGAATATTTA
CTAACTAAATACCATTCACTACTCATGCGTGAGATGGGTGTACAAACTCATCCTCTTTTAATGGCATTTCTCTTTAAACTATGTTCCTAA
CAAAATGAGATGATAGGATAGATCCTGGTTACCACTCTTTTGCTGTGCACATACGGGCTCTGACTGGTTTTAATAGTCACCTTCATGATT
ATAGCAACTAATGTTTGAACAAAGCTCAAAGTATGCAATGCTTCATTATTCAAGAATGAAAAATATAATGTTGATAATATATATTAAGTG
TGCCAAATCAGTTTGACTACTCTCTGTTTTAGTGTTTATGTTTAAAAGAAATATATTTTTTGTTATTATTAGATAATATTTTTGTATTTC
TCTATTTTCATAATCAGTAAATAGTGTCATATAAACTCATTTATCTCCTCTTCATGGCATCTTCAATATGAATCTATAAGTAGTAAATCA
GAAAGTAACAATCTATGGCTTATTTCTATGACAAATTCAAGAGCTAGAAAAATAAAATGTTTCATTATGCACTTTTAGAAATGCATATTT

>325_325_1_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000370214_DPYD_chr1_97981497_ENST00000370192_length(amino acids)=979AA_BP=462
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIA
VMLVSRTYCDVWMIQNGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDN
RIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNS
RLITNSEEIAFYNGNKREKQTVHSVFRKLVEHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQS
GRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKDLNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATP
NGDVLIRDLNFESQYGASVSAKPELPLFYTPIDLVDISVEMAGLKFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNV
SPRIIRGTTSGPMYGPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGMG
ERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVS
GTAIRPIALRAVTSIARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYLKSIEELQDWDGQSPAT
VSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVA

--------------------------------------------------------------
>325_325_2_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000394233_DPYD_chr1_97981497_ENST00000370192_length(transcript)=3945nt_BP=1158nt
CTCTGCTCTCCTCCCAGTCTCCCCCGCGCTGCGTGCAGTAAGGTAGCCGCCGCCGCCGCCGCCGCCGCGTCCCCTCGCCGGCTCGCTGGT
ACCGGCAGTGCCATGGCGGCCTTCAGCAAGTACTTGACGGCGCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCTGCCTGCTC
CACAAGCGGCGCCGCGCCCTCGGCCTGCACGGTAAGAAAAGTGGAAAACCACCATTACAGAACAATGAGAAAGAGGGGAAAAAGGAGCGA
GCTGTGGTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATGGTCCCTAGAACATTTTGTAAAGAGACAGGTTACTTG
GTACTTATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATTCAAAATGGGACACTAATTGAAAGTGGTATCATTGGT
CGTAGCAGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTTATCTCTCTGGTTAATAACTTCTTGAAGTATGGG
TTAAATGAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAGGAGTATCTTCAAGCTTTCACATATTATAAAATGGGG
AATCTGGACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTAGTCGATCTGTATTCAAAT
CTTAGTAAGCCATTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCAATTGGAGCTCAGGGCCCAGCGAGCATGATGGCCTAC
TTGGTTGTTTCTGGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATGACAATAACTGAGCAAAAGTATGAAGGAGAATATAGA
TATGTTAATTCTCGGCTCATCACAAACAGTTTTACTGCTCGGATTACAGAATTAATGCAAGTACTGAAGGATTTAAATCATGGCAAATAT
GAGCGCACAATGGTCTCACAACAGGAAAAGGGTATTGAAGGAGTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATTATTGCA
GATAACATTATAAAGTTTGATCATGTTCCTTTAGCAACGCCAAATGGAGATGTTTTGATCCGAGACCTTAATTTTGAATCACAATATGGA
GCTTCCGTTTCTGCCAAGCCTGAACTACCCCTCTTTTACACTCCTATTGATCTGGTGGACATTAGTGTAGAAATGGCCGGATTGAAGTTT
ATAAATCCTTTTGGTCTTGCTAGCGCAACTCCAGCCACCAGCACATCAATGATTCGAAGAGCTTTTGAAGCTGGATGGGGTTTTGCCCTC
ACCAAAACTTTCTCTCTTGATAAGGACATTGTGACAAATGTTTCCCCCAGAATCATCCGGGGAACCACCTCTGGCCCCATGTATGGCCCT
GGACAAAGCTCCTTTCTGAATATTGAGCTCATCAGTGAGAAAACGGCTGCATATTGGTGTCAAAGTGTCACTGAACTAAAGGCTGACTTT
CCAGACAACATTGTGATTGCTAGCATTATGTGCAGTTACAATAAAAATGACTGGACGGAACTTGCCAAGAAGTCTGAGGATTCTGGAGCA
GATGCCCTGGAGTTAAATTTATCATGTCCACATGGCATGGGAGAAAGAGGAATGGGCCTGGCCTGTGGGCAGGATCCAGAGCTGGTGCGG
AACATCTGCCGCTGGGTTAGGCAAGCTGTTCAGATTCCTTTTTTTGCCAAGCTGACCCCAAATGTCACTGATATTGTGAGCATCGCAAGA
GCTGCAAAGGAAGGTGGTGCCAATGGCGTTACAGCCACCAACACTGTCTCAGGTCTGATGGGATTAAAATCTGATGGCACACCTTGGCCA
GCAGTGGGGATTGCAAAGCGAACTACATATGGAGGAGTGTCTGGGACAGCAATCAGACCTATTGCTTTGAGAGCTGTGACCTCCATTGCT
CGTGCTCTGCCTGGATTTCCCATTTTGGCTACTGGTGGAATTGACTCTGCTGAAAGTGGTCTTCAGTTTCTCCATAGTGGTGCTTCCGTC
CTCCAGGTATGCAGTGCCATTCAGAATCAGGATTTCACTGTGATCGAAGACTACTGCACTGGCCTCAAAGCCCTGCTTTATCTGAAAAGC
ATTGAAGAACTACAAGACTGGGATGGACAGAGTCCAGCTACTGTGAGTCACCAGAAAGGGAAACCAGTTCCACGTATAGCTGAACTCATG
GACAAGAAACTGCCAAGTTTTGGACCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAAAATGTA
GCTTTTTCACCACTTAAGAGAAACTGTTTTATCCCCAAAAGGCCTATTCCTACCATCAAGGATGTAATAGGAAAAGCACTGCAGTACCTT
GGAACATTTGGTGAATTGAGCAACGTAGAGCAAGTTGTGGCTATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTACATGACC
TGTAATGATTCTGGCTACCAGGCTATACAGTTTGATCCAGAAACCCACCTGCCCACCATAACCGACACTTGTACAGGCTGTACTCTGTGT
CTCAGTGTTTGCCCTATTGTCGACTGCATCAAAATGGTTTCCAGGACAACACCTTATGAACCAAAGAGAGGCGTACCCTTATCTGTGAAT
CCGGTGTGTTAAGGTGATTTGTGAAACAGTTGCTGTGAACTTTCATGTCACCTACATATGCTGATCTTTTAAAATCATGATCCTTGTGTT
CAGCTCTTTCCAAATTAAAACAAATATACATTTTCTAAATAAAAATATGTAATTTCAAAATACATTTGTAAGTGTAAAAAATGTCTCATG
TCAATGACCATTCAATTAGTGGTCATAAAATAGAATAATTCTTTTCTGAGGATAGTAGTTAAATAACTGTGTGGCAGTTAATTGGATGTT
CACTGCCAGTTGTCTTATGTGAAAAATTAACTTTTTTGTGGCAATTAGTGTGACAGTTTCCAAATTGCCCTATGCTGTGCTCCATATTTG
ATTTCTAATTGTAAGTGAAATTAAGCATTTTGAAACAAAGTACTCTTTAACATACAAGAAAATGTATCCAAGGAAACATTTTATCATTAA
AAATTACCTTTAATTTTAATGCTGTTTCTAAGAAAATGTAGTTAGCTCCATAAAGTACAAATGAAGAAAGTCAAAAAATTATTTGCTATG
GCAGGATAAGAAAGCCTAAAATTGAGTTTGTAGAACTTTATTAAGTAAAATCCCCTTCGCTGAAATTGCTTATTTTTGGTGTTGGATAGA
GGATAGGGAGAATATTTACTAACTAAATACCATTCACTACTCATGCGTGAGATGGGTGTACAAACTCATCCTCTTTTAATGGCATTTCTC
TTTAAACTATGTTCCTAACAAAATGAGATGATAGGATAGATCCTGGTTACCACTCTTTTGCTGTGCACATACGGGCTCTGACTGGTTTTA
ATAGTCACCTTCATGATTATAGCAACTAATGTTTGAACAAAGCTCAAAGTATGCAATGCTTCATTATTCAAGAATGAAAAATATAATGTT
GATAATATATATTAAGTGTGCCAAATCAGTTTGACTACTCTCTGTTTTAGTGTTTATGTTTAAAAGAAATATATTTTTTGTTATTATTAG
ATAATATTTTTGTATTTCTCTATTTTCATAATCAGTAAATAGTGTCATATAAACTCATTTATCTCCTCTTCATGGCATCTTCAATATGAA
TCTATAAGTAGTAAATCAGAAAGTAACAATCTATGGCTTATTTCTATGACAAATTCAAGAGCTAGAAAAATAAAATGTTTCATTATGCAC

>325_325_2_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000394233_DPYD_chr1_97981497_ENST00000370192_length(amino acids)=869AA_BP=352
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIA
VMLVSRTYCDVWMIQNGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDN
RIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNS
RLITNSFTARITELMQVLKDLNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFESQYGASVS
AKPELPLFYTPIDLVDISVEMAGLKFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMYGPGQSS
FLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGMGERGMGLACGQDPELVRNICR
WVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTSIARALP
GFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYLKSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKL
PSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDS

--------------------------------------------------------------
>325_325_3_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000454898_DPYD_chr1_97981497_ENST00000370192_length(transcript)=4311nt_BP=1524nt
AGTAAGGTAGCCGCCGCCGCCGCCGCCGCCGCGTCCCCTCGCCGGCTCGCTGGTACCGGCAGTGCCATGGCGGCCTTCAGCAAGTACTTG
ACGGCGCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCTGCCTGCTCCACAAGCGGCGCCGCGCCCTCGGCCTGCACGGGTAT
TTCATGGAAACTTGGAGAGAGAAAAGTGATGAAGTGATGGGAGAGCTGACTGATCATGTGACTCATTGTAAGAAAAGTGGAAAACCACCA
TTACAGAACAATGAGAAAGAGGGGAAAAAGGAGCGAGCTGTGGTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATG
GTCCCTAGAACATTTTGTAAAGAGACAGGTTACTTGGTACTTATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATT
CAAAATGGGACACTAATTGAAAGTGGTATCATTGGTCGTAGCAGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCT
CTTATCTCTCTGGTTAATAACTTCTTGAAGTATGGGTTAAATGAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAG
GAGTATCTTCAAGCTTTCACATATTATAAAATGGGGAATCTGGACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAA
AAATTTTGTAACAGTGTAGTCGATCTGTATTCAAATCTTAGTAAGCCATTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCA
ATTGGAGCTCAGGGCCCAGCGAGCATGATGGCCTACTTGGTTGTTTCTGGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATG
ACAATAACTGAGCAAAAGTATGAAGGAGAATATAGATATGTTAATTCTCGGCTCATCACAAACAGTGAAGAAATTGCCTTTTACAATGGG
AATAAAAGAGAAAAGCAGACAGTCCACTCAGTCTTCCGAAAACTGGTGGAACACCTACATAATTTCATTTTGTTTCGGTTTTCAATGGGC
TTCATTGATAGTATTATTGCCAAATACCTTGCCACTGTTGTTGGTTACCTAGTTGTCAGTCGCCCTTTCTTAGATTTGTCTCATCCTCGA
CATCTCAAGAGTACACATTCGGAACTTCTAGAGGATTACTACCAAAGTGGAAGAATGCTTTTGCGAATGTCTCAAGCTCTGGGTCGAATA
GTTTTGGCTGGGCGTGAAATGACTAGATTGGCCGGTTTTACTGCTCGGATTACAGAATTAATGCAAGTACTGAAGGATTTAAATCATGGC
AAATATGAGCGCACAATGGTCTCACAACAGGAAAAGGGTATTGAAGGAGTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATT
ATTGCAGATAACATTATAAAGTTTGATCATGTTCCTTTAGCAACGCCAAATGGAGATGTTTTGATCCGAGACCTTAATTTTGAATCACAA
TATGGAGCTTCCGTTTCTGCCAAGCCTGAACTACCCCTCTTTTACACTCCTATTGATCTGGTGGACATTAGTGTAGAAATGGCCGGATTG
AAGTTTATAAATCCTTTTGGTCTTGCTAGCGCAACTCCAGCCACCAGCACATCAATGATTCGAAGAGCTTTTGAAGCTGGATGGGGTTTT
GCCCTCACCAAAACTTTCTCTCTTGATAAGGACATTGTGACAAATGTTTCCCCCAGAATCATCCGGGGAACCACCTCTGGCCCCATGTAT
GGCCCTGGACAAAGCTCCTTTCTGAATATTGAGCTCATCAGTGAGAAAACGGCTGCATATTGGTGTCAAAGTGTCACTGAACTAAAGGCT
GACTTTCCAGACAACATTGTGATTGCTAGCATTATGTGCAGTTACAATAAAAATGACTGGACGGAACTTGCCAAGAAGTCTGAGGATTCT
GGAGCAGATGCCCTGGAGTTAAATTTATCATGTCCACATGGCATGGGAGAAAGAGGAATGGGCCTGGCCTGTGGGCAGGATCCAGAGCTG
GTGCGGAACATCTGCCGCTGGGTTAGGCAAGCTGTTCAGATTCCTTTTTTTGCCAAGCTGACCCCAAATGTCACTGATATTGTGAGCATC
GCAAGAGCTGCAAAGGAAGGTGGTGCCAATGGCGTTACAGCCACCAACACTGTCTCAGGTCTGATGGGATTAAAATCTGATGGCACACCT
TGGCCAGCAGTGGGGATTGCAAAGCGAACTACATATGGAGGAGTGTCTGGGACAGCAATCAGACCTATTGCTTTGAGAGCTGTGACCTCC
ATTGCTCGTGCTCTGCCTGGATTTCCCATTTTGGCTACTGGTGGAATTGACTCTGCTGAAAGTGGTCTTCAGTTTCTCCATAGTGGTGCT
TCCGTCCTCCAGGTATGCAGTGCCATTCAGAATCAGGATTTCACTGTGATCGAAGACTACTGCACTGGCCTCAAAGCCCTGCTTTATCTG
AAAAGCATTGAAGAACTACAAGACTGGGATGGACAGAGTCCAGCTACTGTGAGTCACCAGAAAGGGAAACCAGTTCCACGTATAGCTGAA
CTCATGGACAAGAAACTGCCAAGTTTTGGACCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAA
AATGTAGCTTTTTCACCACTTAAGAGAAACTGTTTTATCCCCAAAAGGCCTATTCCTACCATCAAGGATGTAATAGGAAAAGCACTGCAG
TACCTTGGAACATTTGGTGAATTGAGCAACGTAGAGCAAGTTGTGGCTATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTAC
ATGACCTGTAATGATTCTGGCTACCAGGCTATACAGTTTGATCCAGAAACCCACCTGCCCACCATAACCGACACTTGTACAGGCTGTACT
CTGTGTCTCAGTGTTTGCCCTATTGTCGACTGCATCAAAATGGTTTCCAGGACAACACCTTATGAACCAAAGAGAGGCGTACCCTTATCT
GTGAATCCGGTGTGTTAAGGTGATTTGTGAAACAGTTGCTGTGAACTTTCATGTCACCTACATATGCTGATCTTTTAAAATCATGATCCT
TGTGTTCAGCTCTTTCCAAATTAAAACAAATATACATTTTCTAAATAAAAATATGTAATTTCAAAATACATTTGTAAGTGTAAAAAATGT
CTCATGTCAATGACCATTCAATTAGTGGTCATAAAATAGAATAATTCTTTTCTGAGGATAGTAGTTAAATAACTGTGTGGCAGTTAATTG
GATGTTCACTGCCAGTTGTCTTATGTGAAAAATTAACTTTTTTGTGGCAATTAGTGTGACAGTTTCCAAATTGCCCTATGCTGTGCTCCA
TATTTGATTTCTAATTGTAAGTGAAATTAAGCATTTTGAAACAAAGTACTCTTTAACATACAAGAAAATGTATCCAAGGAAACATTTTAT
CATTAAAAATTACCTTTAATTTTAATGCTGTTTCTAAGAAAATGTAGTTAGCTCCATAAAGTACAAATGAAGAAAGTCAAAAAATTATTT
GCTATGGCAGGATAAGAAAGCCTAAAATTGAGTTTGTAGAACTTTATTAAGTAAAATCCCCTTCGCTGAAATTGCTTATTTTTGGTGTTG
GATAGAGGATAGGGAGAATATTTACTAACTAAATACCATTCACTACTCATGCGTGAGATGGGTGTACAAACTCATCCTCTTTTAATGGCA
TTTCTCTTTAAACTATGTTCCTAACAAAATGAGATGATAGGATAGATCCTGGTTACCACTCTTTTGCTGTGCACATACGGGCTCTGACTG
GTTTTAATAGTCACCTTCATGATTATAGCAACTAATGTTTGAACAAAGCTCAAAGTATGCAATGCTTCATTATTCAAGAATGAAAAATAT
AATGTTGATAATATATATTAAGTGTGCCAAATCAGTTTGACTACTCTCTGTTTTAGTGTTTATGTTTAAAAGAAATATATTTTTTGTTAT
TATTAGATAATATTTTTGTATTTCTCTATTTTCATAATCAGTAAATAGTGTCATATAAACTCATTTATCTCCTCTTCATGGCATCTTCAA
TATGAATCTATAAGTAGTAAATCAGAAAGTAACAATCTATGGCTTATTTCTATGACAAATTCAAGAGCTAGAAAAATAAAATGTTTCATT

>325_325_3_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000454898_DPYD_chr1_97981497_ENST00000370192_length(amino acids)=1003AA_BP=486
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGYFMETWREKSDEVMGELTDHVTHCKKSGKPPLQNNEKEGKKERAVVDKVFFSR
LIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRKDFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRV
RLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTR
LRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLVEHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRP
FLDLSHPRHLKSTHSELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTARITELMQVLKDLNHGKYERTMVSQQEKGIEGVQVIPL
IPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFESQYGASVSAKPELPLFYTPIDLVDISVEMAGLKFINPFGLASATPATSTSMIRR
AFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMYGPGQSSFLNIELISEKTAAYWCQSVTELKADFPDNIVIASIMCSYNKNDWTE
LAKKSEDSGADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLM
GLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTSIARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCT
GLKALLYLKSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRNCFIPKRPIPTIK
DVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDSGYQAIQFDPETHLPTITDTCTGCTLCLSVCPIVDCIKMVSRTTPYE

--------------------------------------------------------------
>325_325_4_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000536817_DPYD_chr1_97981497_ENST00000370192_length(transcript)=4200nt_BP=1413nt
TAAGGTAGCCGCCGCCGCCGCCGCCGCCGCGTCCCCTCGCCGGCTCGCTGGTACCGGCAGTGCCATGGCGGCCTTCAGCAAGTACTTGAC
GGCGCGAAACTCCTCGCTGGCTGGTGCCGCGTTCCTGCTGCTCTGCCTGCTCCACAAGCGGCGCCGCGCCCTCGGCCTGCACGGAAAGAG
GGGAAAAAGGAGCGAGCTGTGGTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATGGTCCCTAGAACATTTTGTAAA
GAGACAGGTTACTTGGTACTTATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATTCAAAATGGGACACTAATTGAA
AGTGGTATCATTGGTCGTAGCAGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTTATCTCTCTGGTTAATAAC
TTCTTGAAGTATGGGTTAAATGAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAGGAGTATCTTCAAGCTTTCACA
TATTATAAAATGGGGAATCTGGACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTAGTC
GATCTGTATTCAAATCTTAGTAAGCCATTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCAATTGGAGCTCAGGGCCCAGCG
AGCATGATGGCCTACTTGGTTGTTTCTGGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATGACAATAACTGAGCAAAAGTAT
GAAGGAGAATATAGATATGTTAATTCTCGGCTCATCACAAACAGTGAAGAAATTGCCTTTTACAATGGGAATAAAAGAGAAAAGCAGACA
GTCCACTCAGTCTTCCGAAAACTGGTGGAACACCTACATAATTTCATTTTGTTTCGGTTTTCAATGGGCTTCATTGATAGTATTATTGCC
AAATACCTTGCCACTGTTGTTGGTTACCTAGTTGTCAGTCGCCCTTTCTTAGATTTGTCTCATCCTCGACATCTCAAGAGTACACATTCG
GAACTTCTAGAGGATTACTACCAAAGTGGAAGAATGCTTTTGCGAATGTCTCAAGCTCTGGGTCGAATAGTTTTGGCTGGGCGTGAAATG
ACTAGATTGGCCGGTTTTACTGCTCGGATTACAGAATTAATGCAAGTACTGAAGGATTTAAATCATGGCAAATATGAGCGCACAATGGTC
TCACAACAGGAAAAGGGTATTGAAGGAGTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATTATTGCAGATAACATTATAAAG
TTTGATCATGTTCCTTTAGCAACGCCAAATGGAGATGTTTTGATCCGAGACCTTAATTTTGAATCACAATATGGAGCTTCCGTTTCTGCC
AAGCCTGAACTACCCCTCTTTTACACTCCTATTGATCTGGTGGACATTAGTGTAGAAATGGCCGGATTGAAGTTTATAAATCCTTTTGGT
CTTGCTAGCGCAACTCCAGCCACCAGCACATCAATGATTCGAAGAGCTTTTGAAGCTGGATGGGGTTTTGCCCTCACCAAAACTTTCTCT
CTTGATAAGGACATTGTGACAAATGTTTCCCCCAGAATCATCCGGGGAACCACCTCTGGCCCCATGTATGGCCCTGGACAAAGCTCCTTT
CTGAATATTGAGCTCATCAGTGAGAAAACGGCTGCATATTGGTGTCAAAGTGTCACTGAACTAAAGGCTGACTTTCCAGACAACATTGTG
ATTGCTAGCATTATGTGCAGTTACAATAAAAATGACTGGACGGAACTTGCCAAGAAGTCTGAGGATTCTGGAGCAGATGCCCTGGAGTTA
AATTTATCATGTCCACATGGCATGGGAGAAAGAGGAATGGGCCTGGCCTGTGGGCAGGATCCAGAGCTGGTGCGGAACATCTGCCGCTGG
GTTAGGCAAGCTGTTCAGATTCCTTTTTTTGCCAAGCTGACCCCAAATGTCACTGATATTGTGAGCATCGCAAGAGCTGCAAAGGAAGGT
GGTGCCAATGGCGTTACAGCCACCAACACTGTCTCAGGTCTGATGGGATTAAAATCTGATGGCACACCTTGGCCAGCAGTGGGGATTGCA
AAGCGAACTACATATGGAGGAGTGTCTGGGACAGCAATCAGACCTATTGCTTTGAGAGCTGTGACCTCCATTGCTCGTGCTCTGCCTGGA
TTTCCCATTTTGGCTACTGGTGGAATTGACTCTGCTGAAAGTGGTCTTCAGTTTCTCCATAGTGGTGCTTCCGTCCTCCAGGTATGCAGT
GCCATTCAGAATCAGGATTTCACTGTGATCGAAGACTACTGCACTGGCCTCAAAGCCCTGCTTTATCTGAAAAGCATTGAAGAACTACAA
GACTGGGATGGACAGAGTCCAGCTACTGTGAGTCACCAGAAAGGGAAACCAGTTCCACGTATAGCTGAACTCATGGACAAGAAACTGCCA
AGTTTTGGACCTTATCTGGAACAGCGCAAGAAAATCATAGCAGAAAACAAGATTAGACTGAAAGAACAAAATGTAGCTTTTTCACCACTT
AAGAGAAACTGTTTTATCCCCAAAAGGCCTATTCCTACCATCAAGGATGTAATAGGAAAAGCACTGCAGTACCTTGGAACATTTGGTGAA
TTGAGCAACGTAGAGCAAGTTGTGGCTATGATTGATGAAGAAATGTGTATCAACTGTGGTAAATGCTACATGACCTGTAATGATTCTGGC
TACCAGGCTATACAGTTTGATCCAGAAACCCACCTGCCCACCATAACCGACACTTGTACAGGCTGTACTCTGTGTCTCAGTGTTTGCCCT
ATTGTCGACTGCATCAAAATGGTTTCCAGGACAACACCTTATGAACCAAAGAGAGGCGTACCCTTATCTGTGAATCCGGTGTGTTAAGGT
GATTTGTGAAACAGTTGCTGTGAACTTTCATGTCACCTACATATGCTGATCTTTTAAAATCATGATCCTTGTGTTCAGCTCTTTCCAAAT
TAAAACAAATATACATTTTCTAAATAAAAATATGTAATTTCAAAATACATTTGTAAGTGTAAAAAATGTCTCATGTCAATGACCATTCAA
TTAGTGGTCATAAAATAGAATAATTCTTTTCTGAGGATAGTAGTTAAATAACTGTGTGGCAGTTAATTGGATGTTCACTGCCAGTTGTCT
TATGTGAAAAATTAACTTTTTTGTGGCAATTAGTGTGACAGTTTCCAAATTGCCCTATGCTGTGCTCCATATTTGATTTCTAATTGTAAG
TGAAATTAAGCATTTTGAAACAAAGTACTCTTTAACATACAAGAAAATGTATCCAAGGAAACATTTTATCATTAAAAATTACCTTTAATT
TTAATGCTGTTTCTAAGAAAATGTAGTTAGCTCCATAAAGTACAAATGAAGAAAGTCAAAAAATTATTTGCTATGGCAGGATAAGAAAGC
CTAAAATTGAGTTTGTAGAACTTTATTAAGTAAAATCCCCTTCGCTGAAATTGCTTATTTTTGGTGTTGGATAGAGGATAGGGAGAATAT
TTACTAACTAAATACCATTCACTACTCATGCGTGAGATGGGTGTACAAACTCATCCTCTTTTAATGGCATTTCTCTTTAAACTATGTTCC
TAACAAAATGAGATGATAGGATAGATCCTGGTTACCACTCTTTTGCTGTGCACATACGGGCTCTGACTGGTTTTAATAGTCACCTTCATG
ATTATAGCAACTAATGTTTGAACAAAGCTCAAAGTATGCAATGCTTCATTATTCAAGAATGAAAAATATAATGTTGATAATATATATTAA
GTGTGCCAAATCAGTTTGACTACTCTCTGTTTTAGTGTTTATGTTTAAAAGAAATATATTTTTTGTTATTATTAGATAATATTTTTGTAT
TTCTCTATTTTCATAATCAGTAAATAGTGTCATATAAACTCATTTATCTCCTCTTCATGGCATCTTCAATATGAATCTATAAGTAGTAAA
TCAGAAAGTAACAATCTATGGCTTATTTCTATGACAAATTCAAGAGCTAGAAAAATAAAATGTTTCATTATGCACTTTTAGAAATGCATA

>325_325_4_ABCD3-DPYD_ABCD3_chr1_94956803_ENST00000536817_DPYD_chr1_97981497_ENST00000370192_length(amino acids)=944AA_BP=427
MPAPQAAPRPRPARKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRKDFKRY
LLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKPFLDIV
LYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLVEHLHN
FILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTARITELM
QVLKDLNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFESQYGASVSAKPELPLFYTPIDLV
DISVEMAGLKFINPFGLASATPATSTSMIRRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMYGPGQSSFLNIELISEKTAAYW
CQSVTELKADFPDNIVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQAVQIPFFAKLT
PNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAIRPIALRAVTSIARALPGFPILATGGIDSAES
GLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYLKSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIA
ENKIRLKEQNVAFSPLKRNCFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDSGYQAIQFDPETHLPT

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Fusion Gene PPI Analysis for ABCD3-DPYD


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
HgeneABCD3chr1:94956803chr1:97981497ENST00000370214+16231_199462.0660.0PEX19
HgeneABCD3chr1:94956803chr1:97981497ENST00000394233+12191_199352.0550.0PEX19


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneABCD3chr1:94956803chr1:97981497ENST00000315713+191_1990.0237.0PEX19


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 ABCD3-DPYD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneDPYDQ12882DB03147Flavin adenine dinucleotideSmall moleculeApproved
TgeneDPYDQ12882DB09257GimeracilInhibitorSmall moleculeApproved
TgeneDPYDQ12882DB03247Flavin mononucleotideSmall moleculeApproved|Investigational
TgeneDPYDQ12882DB09327Tegafur-uracilAntagonistSmall moleculeApproved|Investigational

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Related Diseases for ABCD3-DPYD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCD3C0009402Colorectal Carcinoma1CTD_human
HgeneABCD3C0009404Colorectal Neoplasms1CTD_human
HgeneABCD3C0043459Zellweger Syndrome1CTD_human
HgeneABCD3C0751594Zellweger-Like Syndrome1CTD_human
HgeneABCD3C3658299Zellweger Spectrum1CTD_human
HgeneABCD3C4225390BILE ACID SYNTHESIS DEFECT, CONGENITAL, 51CTD_human;GENOMICS_ENGLAND
TgeneC1959620Dihydropyrimidine Dehydrogenase Deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0009402Colorectal Carcinoma5CTD_human
TgeneC0009404Colorectal Neoplasms5CTD_human
TgeneC0024623Malignant neoplasm of stomach3CTD_human
TgeneC0038356Stomach Neoplasms3CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer3CTD_human
TgeneC0030297Pancreatic Neoplasm2CTD_human
TgeneC0034139Purine-Pyrimidine Metabolism, Inborn Errors2CTD_human
TgeneC0036341Schizophrenia2CTD_human
TgeneC0346647Malignant neoplasm of pancreas2CTD_human
TgeneC1510586Autism Spectrum Disorders2CTD_human
TgeneC3495551Dihydropyrimidinuria2CTD_human
TgeneC43045781p21.3 microdeletion syndrome2ORPHANET
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0023012Language Delay1CTD_human
TgeneC0023014Language Development Disorders1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027765nervous system disorder1CTD_human
TgeneC0027947Neutropenia1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0241210Speech Delay1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0270612Leukoencephalopathy1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0454655Semantic-Pragmatic Disorder1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0751257Auditory Processing Disorder, Central1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1858991Childhood Ataxia with Central Nervous System Hypomyelinization1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human