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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:ABHD17A-AP3D1 (FusionGDB2 ID:HG81926TG8943)

Fusion Gene Summary for ABHD17A-AP3D1

check button Fusion gene summary
Fusion gene informationFusion gene name: ABHD17A-AP3D1
Fusion gene ID: hg81926tg8943
HgeneTgene
Gene symbol

ABHD17A

AP3D1

Gene ID

81926

8943

Gene nameabhydrolase domain containing 17A, depalmitoylaseadaptor related protein complex 3 subunit delta 1
SynonymsC19orf27|FAM108A1ADTD|HPS10|hBLVR
Cytomap('ABHD17A')('AP3D1')

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionalpha/beta hydrolase domain-containing protein 17Aabhydrolase domain containing 17Aabhydrolase domain-containing protein 17Aabhydrolase domain-containing protein FAM108A1family with sequence similarity 108, member A1protein ABHD17AAP-3 complex subunit delta-1AP-3 complex delta subunit, partial CDSadapter-related protein complex 3 subunit delta-1adaptor related protein complex 3 delta 1 subunitdelta adaptinsubunit of putative vesicle coat adaptor complex AP-3
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000250974, ENST00000292577, 
ENST00000590661, 		ENST00000250974, 
ENST00000292577, ENST00000590661, 
Fusion gene scores* DoF score6 X 4 X 6=14412 X 12 X 8=1152
# samples 613
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1152*10)=-3.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABHD17A [Title/Abstract] AND AP3D1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABHD17A(1881234)-AP3D1(2138713), # samples:1
Anticipated loss of major functional domain due to fusion event.ABHD17A-AP3D1 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.
ABHD17A-AP3D1 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.
ABHD17A-AP3D1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ABHD17A-AP3D1 seems lost the major protein functional domain in Tgene partner, which is a essential 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

check buttonFusion gene breakpoints across ABHD17A (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 AP3D1 (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
ChimerDB4LIHCTCGA-WJ-A86L-01AABHD17Achr19

1881234

-AP3D1chr19

2138713

-


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Fusion Gene ORF analysis for ABHD17A-AP3D1

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-intronENST00000250974ENST00000590683ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
5CDS-intronENST00000292577ENST00000590683ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
5CDS-intronENST00000590661ENST00000590683ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000250974ENST00000345016ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000250974ENST00000350812ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000250974ENST00000355272ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000250974ENST00000356926ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000292577ENST00000345016ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000292577ENST00000350812ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000292577ENST00000355272ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
Frame-shiftENST00000292577ENST00000356926ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
In-frameENST00000590661ENST00000345016ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
In-frameENST00000590661ENST00000350812ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
In-frameENST00000590661ENST00000355272ABHD17Achr19

1881234

-AP3D1chr19

2138713

-
In-frameENST00000590661ENST00000356926ABHD17Achr19

1881234

-AP3D1chr19

2138713

-

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)
ENST00000590661ABHD17Achr191881234-ENST00000355272AP3D1chr192138713-508235121339021229
ENST00000590661ABHD17Achr191881234-ENST00000356926AP3D1chr192138713-477335121335931126
ENST00000590661ABHD17Achr191881234-ENST00000350812AP3D1chr192138713-43873512133209998
ENST00000590661ABHD17Achr191881234-ENST00000345016AP3D1chr192138713-489435121337161167

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
ENST00000590661ENST00000355272ABHD17Achr191881234-AP3D1chr192138713-0.0079615050.9920385
ENST00000590661ENST00000356926ABHD17Achr191881234-AP3D1chr192138713-0.0047254690.99527454
ENST00000590661ENST00000350812ABHD17Achr191881234-AP3D1chr192138713-0.0073056310.9926944
ENST00000590661ENST00000345016ABHD17Achr191881234-AP3D1chr192138713-0.0048958230.9951042

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Fusion Genomic Features for ABHD17A-AP3D1


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 ABHD17A-AP3D1


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/chr19:1881234/chr19:2138713)
- 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
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030659_679321154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030725_756321154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030845_869321154.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032659_679321216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032725_756321216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032845_869321216.0Coiled coilOntology_term=ECO:0000255
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030828_893321154.0Compositional biasNote=Lys-rich
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032828_893321216.0Compositional biasNote=Lys-rich
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030142_179321154.0RepeatNote=HEAT 3
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030180_216321154.0RepeatNote=HEAT 4
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030254_292321154.0RepeatNote=HEAT 5
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030299_336321154.0RepeatNote=HEAT 6
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030338_373321154.0RepeatNote=HEAT 7
TgeneAP3D1chr19:1881234chr19:2138713ENST0000034501603034_71321154.0RepeatNote=HEAT 1
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030375_409321154.0RepeatNote=HEAT 8
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030431_468321154.0RepeatNote=HEAT 9
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030497_535321154.0RepeatNote=HEAT 10
TgeneAP3D1chr19:1881234chr19:2138713ENST00000345016030548_585321154.0RepeatNote=HEAT 11
TgeneAP3D1chr19:1881234chr19:2138713ENST0000034501603077_114321154.0RepeatNote=HEAT 2
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032142_179321216.0RepeatNote=HEAT 3
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032180_216321216.0RepeatNote=HEAT 4
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032254_292321216.0RepeatNote=HEAT 5
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032299_336321216.0RepeatNote=HEAT 6
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032338_373321216.0RepeatNote=HEAT 7
TgeneAP3D1chr19:1881234chr19:2138713ENST0000035527203234_71321216.0RepeatNote=HEAT 1
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032375_409321216.0RepeatNote=HEAT 8
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032431_468321216.0RepeatNote=HEAT 9
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032497_535321216.0RepeatNote=HEAT 10
TgeneAP3D1chr19:1881234chr19:2138713ENST00000355272032548_585321216.0RepeatNote=HEAT 11
TgeneAP3D1chr19:1881234chr19:2138713ENST0000035527203277_114321216.0RepeatNote=HEAT 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ABHD17A-AP3D1


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.
>399_399_1_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000345016_length(transcript)=4894nt_BP=351nt
GGCCTGGGCGGCGCCCGCCATGAATGGGCTGTCGCTGAGTGAGCTCTGCTGCCTCTTCTGCTGCCCGCCCTGCCCCGGCCGCATCGCTGC
CAAGCTCGCCTTCCTGCCGCCGGAGGCCACCTACTCCCTGGTGCCTGAGCCCGAGCCGGGGCCTGGTGGGGCCGGGGCCGCCCCCTTGGG
GACCCTGAGAGCCTCCTCGGGCGCACCCGGGCGCTGGAAGCTGCACCTGACGGAGCGTGCCGACTTCCAGTACAGCCAGCGCGAGCTGGA
CACCATCGAGGTCTTCCCCACCAAGAGCGCCCGCGGCAACCGCGTCTCCTGCATGTATGTTCGCTGCGTGCCTGGTGCCAGGCAAAATAC
ATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTA
CAGATGTTGGGATACGACATCAGCTGGGCCGCCTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTAC
CTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGACTTGAGCAGCCCCAGCCAG
TACGACACAGGTGTTGCACTGACGGGTCTGTCCTGCTTCGTCACCCCAGACCTTGCCAGAGACCTGGCAAATGACATCATGACACTGATG
TCACACACCAAGCCCTACATCAGGAAGAAGGCTGTGCTGATCATGTACAAGGTGTTCCTGAAGTACCCCGAGTCGCTGCGCCCTGCCTTT
CCCCGGCTGAAGGAGAAGCTGGAGGACCCCGACCCCGGGGTTCAGTCGGCTGCCGTCAATGTCATCTGCGAGCTGGCCAGACGCAACCCT
AAGAACTACCTGTCCCTGGCCCCGCTCTTTTTCAAGCTGATGACGTCCTCCACCAACAACTGGGTCCTCATCAAGATCATCAAGCTGTTC
GGTGCTCTTACTCCTTTGGAACCGCGGCTGGGCAAGAAGCTGATCGAGCCCCTCACCAATCTCATCCACAGCACGTCTGCCATGTCTCTC
CTCTATGAATGTGTGAACACCGTGATTGCAGTGCTCATCTCGCTGTCCTCCGGCATGCCCAACCACAGCGCCAGCATCCAGCTTTGTGTT
CAGAAATTAAGGATATTGATCGAGGACTCCGATCAGAACTTGAAGTACCTGGGGCTGCTGGCAATGTCCAAGATCCTGAAGACCCACCCC
AAGTCCGTGCAGTCCCACAAGGACCTCATCCTGCAGTGCCTGGACGACAAGGACGAGTCCATCCGGCTGCGGGCCCTGGACCTGCTCTAT
GGGATGGTGTCCAAGAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTAGACAAGGCAGAGGGTACCACCTACCGTGACGAG
CTGCTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAACTTCGAGTGGTACATCAGCATCCTGGTGGAGCTG
ACCCGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTGGCCATCCGCGTGAAGGCCATCCGCAAGTTCGCC
GTGTCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAGCGGAACGGGATCTGTGAGGTGCTGTACGCTGCC
GCCTGGATCTGCGGGGAGTTCTCAGAGCATCTGCAGGAACCACACCACACTTTGGAGGCCATGCTGCGGCCCAGAGTCACCACGCTGCCA
GGCCACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTGCAGCAGAAGGAGCAGGCCGGGGAGGCAGAGGGC
GCTCAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCAGACCTGGAGGTGCAGGAGCGGGCGTCCTGCATC
CTGCAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAGGAGGTCAGCGCTCTCTTTGCTGGGGAGCTGAAC
CCAGTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGGCCTGGACCTGGACGCCTGGATCAATGAGCCACTCTCGGACAGCGAG
TCAGAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAGCACCGGCCGTCGGAGGCGGACGAGGAAGAGCTG
GCTCGGCGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAGAGCTCGCCATCGCCACAGAAGCGGTACCAGGAC
ACCCCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAGGTTCCAGGGCTGCCTATGTCAGATCAGTATGTG
AAGCTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAAAAGAGGAAGGAGAAGGAGAAGAAGGGCAAGCGC
CGCCACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTGGACATCGTCACAGAGGAGATGCCTGAGAATGCT
CTGCCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATTGACCTGGATAAGCCCTTAGCCGACAGCGAGAAA
CTGCCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTTCCCATGGTAGAAAAGAAGAGCAAGAAACCCAAG
AAGAAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAGGAGAAGAAGAAATCTCCCAAGCCTAAGAAGAAG
AAGCACAGGAAGGAGAAGGAGGAGCGGACCAAAGGCAAGAAGAAGTCCAAGAAGCAGCCTCCAGGCAGCGAGGAGGCAGCGGGGGAGCCG
GTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTCCCGCCTGAGTCCAGCTACTCCCTCCTCGCTGAAAATTCCTATGTTAAAATGACCTGT
GACATCCGGGGCAGTCTGCAGGAGGACAGCCAGGTCACTGTGGCCATCGTGCTGGAGAACAGGAGCAGCAGCATCCTCAAGGGCATGGAG
CTCAGCGTGCTGGACTCACTCAATGCCAGGATGGCCCGGCCGCAGGGCTCCTCCGTCCACGATGGCGTCCCCGTGCCTTTCCAGCTGCCC
CCAGGCGTCTCCAACGAAGCCCAGTATGTGTTCACCATCCAGAGCATCGTCATGGCGCAGAAGCTCAAGGGGACCCTGTCCTTCATTGCC
AAGAATGACGAGGGTGCGACCCACGAGAAGCTGGACTTCAGGCTGCACTTCAGCTGCAGCTCCTACTTGATCACCACTCCCTGCTACAGT
GACGCCTTTGCTAAGTTGCTGGAGTCTGGGGACTTGAGCATGAGCTCAATCAAAGTCGATGGCATTCGGATGTCCTTCCAGAATCTTCTG
GCGAAGATCTGTTTTCACCACCATTTTTCCGTTGTGGAGCGAGTGGACTCCTGCGCCTCCATGTACAGCCGCTCCATCCAGGGCCACCAT
GTCTGCCTCCTGGTGAAAAAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTTGTTAGAAGAG
ATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCAGCCCTGACGT
GTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACATCCGAGGTCAT
TTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCCCCAAACCAGC
AAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTCCTGGGCCAGG
GCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGACCCAAAGGTC
CTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGCGGTCTTGCCA
GGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGGCAGGGCGGGG
CCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTCAGCAGAAGTG
CATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGCACCCTTAGGA
AGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACCTGTGAGAGCC
ACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGACCCTTCTTCAG
AGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGATTCCAGGATT
TGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTGTCATGATTTT
GTGTCAAGATGATCCAATAAAGTTGTAAAACAGG

>399_399_1_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000345016_length(amino acids)=1167AA_BP=46
MEAAPDGACRLPVQPARAGHHRGLPHQERPRQPRLLHVCSLRAWCQAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAA
FNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKA
VLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLG
KKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLIL
QCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHL
IAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNV
VKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVP
VPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQ
IDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPN
DPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKKKHRKEKEERTK
GKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARM
ARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGD
LSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC

--------------------------------------------------------------
>399_399_2_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000350812_length(transcript)=4387nt_BP=351nt
GGCCTGGGCGGCGCCCGCCATGAATGGGCTGTCGCTGAGTGAGCTCTGCTGCCTCTTCTGCTGCCCGCCCTGCCCCGGCCGCATCGCTGC
CAAGCTCGCCTTCCTGCCGCCGGAGGCCACCTACTCCCTGGTGCCTGAGCCCGAGCCGGGGCCTGGTGGGGCCGGGGCCGCCCCCTTGGG
GACCCTGAGAGCCTCCTCGGGCGCACCCGGGCGCTGGAAGCTGCACCTGACGGAGCGTGCCGACTTCCAGTACAGCCAGCGCGAGCTGGA
CACCATCGAGGTCTTCCCCACCAAGAGCGCCCGCGGCAACCGCGTCTCCTGCATGTATGTTCGCTGCGTGCCTGGTGCCAGGCAAAATAC
ATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTA
CAGATGTTGGGATACGACATCAGCTGGGCCGCCTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTAC
CTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCTGCTCATCTCGCTGTCCTCCGGCATG
CCCAACCACAGCGCCAGCATCCAGCTTTGTGTTCAGAAATTAAGGATATTGATCGAGGACTCCGATCAGAACTTGAAGTACCTGGGGCTG
CTGGCAATGTCCAAGATCCTGAAGACCCACCCCAAGTCCGTGCAGTCCCACAAGGACCTCATCCTGCAGTGCCTGGACGACAAGGACGAG
TCCATCCGGCTGCGGGCCCTGGACCTGCTCTATGGGATGGTGTCCAAGAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTA
GACAAGGCAGAGGGTACCACCTACCGTGACGAGCTGCTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAAC
TTCGAGTGGTACATCAGCATCCTGGTGGAGCTGACCCGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTG
GCCATCCGCGTGAAGGCCATCCGCAAGTTCGCCGTGTCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAG
CGGAACGGGATCTGTGAGGTGCTGTACGCTGCCGCCTGGATCTGCGGGGAGTTCTCAGAGCATCTGCAGGAACCACACCACACTTTGGAG
GCCATGCTGCGGCCCAGAGTCACCACGCTGCCAGGCCACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTG
CAGCAGAAGGAGCAGGCCGGGGAGGCAGAGGGCGCTCAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCA
GACCTGGAGGTGCAGGAGCGGGCGTCCTGCATCCTGCAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAG
GAGGTCAGCGCTCTCTTTGCTGGGGAGCTGAACCCAGTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGGCCTGGACCTGGAC
GCCTGGATCAATGAGCCACTCTCGGACAGCGAGTCAGAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAG
CACCGGCCGTCGGAGGCGGACGAGGAAGAGCTGGCTCGGCGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAG
AGCTCGCCATCGCCACAGAAGCGGTACCAGGACACCCCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAG
GTTCCAGGGCTGCCTATGTCAGATCAGTATGTGAAGCTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAA
AAGAGGAAGGAGAAGGAGAAGAAGGGCAAGCGCCGCCACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTG
GACATCGTCACAGAGGAGATGCCTGAGAATGCTCTGCCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATT
GACCTGGATAAGCCCTTAGCCGACAGCGAGAAACTGCCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTT
CCCATGGTAGAAAAGAAGAGCAAGAAACCCAAGAAGAAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAG
GAGAAGAAGAAATCTCCCAAGCCTAAGAAGAAGAAGCACAGGAAGGAGAAGGAGGAGCGGACCAAAGGCAAGAAGAAGTCCAAGAAGCAG
CCTCCAGGCAGCGAGGAGGCAGCGGGGGAGCCGGTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTCCCGCCTGAGTCCAGCTACTCCCTC
CTCGCTGAAAATTCCTATGTTAAAATGACCTGTGACATCCGGGGCAGTCTGCAGGAGGACAGCCAGGTCACTGTGGCCATCGTGCTGGAG
AACAGGAGCAGCAGCATCCTCAAGGGCATGGAGCTCAGCGTGCTGGACTCACTCAATGCCAGGATGGCCCGGCCGCAGGGCTCCTCCGTC
CACGATGGCGTCCCCGTGCCTTTCCAGCTGCCCCCAGGCGTCTCCAACGAAGCCCAGTATGTGTTCACCATCCAGAGCATCGTCATGGCG
CAGAAGCTCAAGGGGACCCTGTCCTTCATTGCCAAGAATGACGAGGGTGCGACCCACGAGAAGCTGGACTTCAGGCTGCACTTCAGCTGC
AGCTCCTACTTGATCACCACTCCCTGCTACAGTGACGCCTTTGCTAAGTTGCTGGAGTCTGGGGACTTGAGCATGAGCTCAATCAAAGTC
GATGGCATTCGGATGTCCTTCCAGAATCTTCTGGCGAAGATCTGTTTTCACCACCATTTTTCCGTTGTGGAGCGAGTGGACTCCTGCGCC
TCCATGTACAGCCGCTCCATCCAGGGCCACCATGTCTGCCTCCTGGTGAAAAAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGT
GACTCCACGCTACTGAGCAACTTGTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGC
GGAGCACGTACCCAGGGACCGCAGCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTC
TATGTTGTCCGCCGTGTAGACATCCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTT
GGCAAGAAGTCCCCTTCTCGCCCCCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGA
ATGTGGCTTCAGGGGCTCCTGTCCTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCT
CCTCTGGGGTCGCCTGCTTTTGACCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCT
CCCAGAACCCACAGTGGGAAAGCGGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGG
CCACGCGCCAGCCAGGCTGTGGGCAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCT
CTCTGCCACCCGTCTTCCTGGTCAGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAA
GGTTTCCCCACATCCTTCCCAGCACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGT
GCCCAGTGCCCTTGGGCAGGACCTGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACG
GCCAGCGTGGGCACAGGACTGACCCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATC
CATTACAGAATCCCATGCAGTGATTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAA
GAGAGAGACATATCACGCTGCTGTCATGATTTTGTGTCAAGATGATCCAATAAAGTTGTAAAACAGG

>399_399_2_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000350812_length(amino acids)=998AA_BP=46
MEAAPDGACRLPVQPARAGHHRGLPHQERPRQPRLLHVCSLRAWCQAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAA
FNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQILLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHP
KSVQSHKDLILQCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVEL
TRLEGTRHGHLIAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLP
GHIQAVYVQNVVKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELN
PVAPKAQKKVPVPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQD
TPGVEHIPVVQIDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENA
LPSDEDDKDPNDPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKKSPKPKKK
KHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGME
LSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYS
DAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEE
MKATLAKC

--------------------------------------------------------------
>399_399_3_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000355272_length(transcript)=5082nt_BP=351nt
GGCCTGGGCGGCGCCCGCCATGAATGGGCTGTCGCTGAGTGAGCTCTGCTGCCTCTTCTGCTGCCCGCCCTGCCCCGGCCGCATCGCTGC
CAAGCTCGCCTTCCTGCCGCCGGAGGCCACCTACTCCCTGGTGCCTGAGCCCGAGCCGGGGCCTGGTGGGGCCGGGGCCGCCCCCTTGGG
GACCCTGAGAGCCTCCTCGGGCGCACCCGGGCGCTGGAAGCTGCACCTGACGGAGCGTGCCGACTTCCAGTACAGCCAGCGCGAGCTGGA
CACCATCGAGGTCTTCCCCACCAAGAGCGCCCGCGGCAACCGCGTCTCCTGCATGTATGTTCGCTGCGTGCCTGGTGCCAGGCAAAATAC
ATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTA
CAGATGTTGGGATACGACATCAGCTGGGCCGCCTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTAC
CTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGACTTGAGCAGCCCCAGCCAG
TACGACACAGGTGTTGCACTGACGGGTCTGTCCTGCTTCGTCACCCCAGACCTTGCCAGAGACCTGGCAAATGACATCATGACACTGATG
TCACACACCAAGCCCTACATCAGGAAGAAGGCTGTGCTGATCATGTACAAGGTGTTCCTGAAGTACCCCGAGTCGCTGCGCCCTGCCTTT
CCCCGGCTGAAGGAGAAGCTGGAGGACCCCGACCCCGGGGTTCAGTCGGCTGCCGTCAATGTCATCTGCGAGCTGGCCAGACGCAACCCT
AAGAACTACCTGTCCCTGGCCCCGCTCTTTTTCAAGCTGATGACGTCCTCCACCAACAACTGGGTCCTCATCAAGATCATCAAGCTGTTC
GGTGCTCTTACTCCTTTGGAACCGCGGCTGGGCAAGAAGCTGATCGAGCCCCTCACCAATCTCATCCACAGCACGTCTGCCATGTCTCTC
CTCTATGAATGTGTGAACACCGTGATTGCAGTGCTCATCTCGCTGTCCTCCGGCATGCCCAACCACAGCGCCAGCATCCAGCTTTGTGTT
CAGAAATTAAGGATATTGATCGAGGACTCCGATCAGAACTTGAAGTACCTGGGGCTGCTGGCAATGTCCAAGATCCTGAAGACCCACCCC
AAGTCCGTGCAGTCCCACAAGGACCTCATCCTGCAGTGCCTGGACGACAAGGACGAGTCCATCCGGCTGCGGGCCCTGGACCTGCTCTAT
GGGATGGTGTCCAAGAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTAGACAAGGCAGAGGGTACCACCTACCGTGACGAG
CTGCTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAACTTCGAGTGGTACATCAGCATCCTGGTGGAGCTG
ACCCGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTGGCCATCCGCGTGAAGGCCATCCGCAAGTTCGCC
GTGTCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAGCGGAACGGGATCTGTGAGGTGCTGTACGCTGCC
GCCTGGATCTGCGGGGAGTTCTCAGAGCATCTGCAGGAACCACACCACACTTTGGAGGCCATGCTGCGGCCCAGAGTCACCACGCTGCCA
GGCCACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTGCAGCAGAAGGAGCAGGCCGGGGAGGCAGAGGGC
GCTCAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCAGACCTGGAGGTGCAGGAGCGGGCGTCCTGCATC
CTGCAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAGGAGGTCAGCGCTCTCTTTGCTGGGGAGCTGAAC
CCAGTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGGCCTGGACCTGGACGCCTGGATCAATGAGCCACTCTCGGACAGCGAG
TCAGAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAGCACCGGCCGTCGGAGGCGGACGAGGAAGAGCTG
GCTCGGCGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAGAGCTCGCCATCGCCACAGAAGCGGTACCAGGAC
ACCCCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAGGTTCCAGGGCTGCCTATGTCAGATCAGTATGTG
AAGCTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAAAAGAGGAAGGAGAAGGAGAAGAAGGGCAAGCGC
CGCCACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTGGACATCGTCACAGAGGAGATGCCTGAGAATGCT
CTGCCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATTGACCTGGATAAGCCCTTAGCCGACAGCGAGAAA
CTGCCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTTCCCATGGTAGAAAAGAAGAGCAAGAAACCCAAG
AAGAAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAGGAGAAGAAGGCTGAGGACCTGGACTTCTGGCTG
TCTACCACCCCACCGCCTGCCCCCGCCCCCGCCCCCGCCCCCGTTCCATCCACGGGGGAGCTCAGTGTGAACACTGTCACTACCCCGAAG
GACGAGTGTGAGGACGCCAAGACGGAGGCGCAGGGCGAGGAGGACGATGCCGAGGGGCAAGACCAGGACAAGAAATCTCCCAAGCCTAAG
AAGAAGAAGCACAGGAAGGAGAAGGAGGAGCGGACCAAAGGCAAGAAGAAGTCCAAGAAGCAGCCTCCAGGCAGCGAGGAGGCAGCGGGG
GAGCCGGTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTCCCGCCTGAGTCCAGCTACTCCCTCCTCGCTGAAAATTCCTATGTTAAAATG
ACCTGTGACATCCGGGGCAGTCTGCAGGAGGACAGCCAGGTCACTGTGGCCATCGTGCTGGAGAACAGGAGCAGCAGCATCCTCAAGGGC
ATGGAGCTCAGCGTGCTGGACTCACTCAATGCCAGGATGGCCCGGCCGCAGGGCTCCTCCGTCCACGATGGCGTCCCCGTGCCTTTCCAG
CTGCCCCCAGGCGTCTCCAACGAAGCCCAGTATGTGTTCACCATCCAGAGCATCGTCATGGCGCAGAAGCTCAAGGGGACCCTGTCCTTC
ATTGCCAAGAATGACGAGGGTGCGACCCACGAGAAGCTGGACTTCAGGCTGCACTTCAGCTGCAGCTCCTACTTGATCACCACTCCCTGC
TACAGTGACGCCTTTGCTAAGTTGCTGGAGTCTGGGGACTTGAGCATGAGCTCAATCAAAGTCGATGGCATTCGGATGTCCTTCCAGAAT
CTTCTGGCGAAGATCTGTTTTCACCACCATTTTTCCGTTGTGGAGCGAGTGGACTCCTGCGCCTCCATGTACAGCCGCTCCATCCAGGGC
CACCATGTCTGCCTCCTGGTGAAAAAGGGTGAGAACTCTGTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTTGTTA
GAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTGCCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCAGCCC
TGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACCCAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACATCCGA
GGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTTACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCCCCAA
ACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCCCCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTCCTGG
GCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTGGACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGACCCA
AAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGGGCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGCGGTC
TTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTGGTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGGCAGG
GCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAACCGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTCAGCA
GAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCCCCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGCACCC
TTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTGGGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACCTGTG
AGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCAAGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGACCCTT
CTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGAAAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGATTCC
AGGATTTGAAATTGTATGATGTGTTACATAAGAATTTATTTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTGTCAT
GATTTTGTGTCAAGATGATCCAATAAAGTTGTAAAACAGGCA

>399_399_3_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000355272_length(amino acids)=1229AA_BP=46
MEAAPDGACRLPVQPARAGHHRGLPHQERPRQPRLLHVCSLRAWCQAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAA
FNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKA
VLIMYKVFLKYPESLRPAFPRLKEKLEDPDPGVQSAAVNVICELARRNPKNYLSLAPLFFKLMTSSTNNWVLIKIIKLFGALTPLEPRLG
KKLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLIL
QCLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHL
IAAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNV
VKLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVP
VPEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQ
IDLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPN
DPYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPA
PAPVPSTGELSVNTVTTPKDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEE
QLPPESSYSLLAENSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQY
VFTIQSIVMAQKLKGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHF
SVVERVDSCASMYSRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC

--------------------------------------------------------------
>399_399_4_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000356926_length(transcript)=4773nt_BP=351nt
GGCCTGGGCGGCGCCCGCCATGAATGGGCTGTCGCTGAGTGAGCTCTGCTGCCTCTTCTGCTGCCCGCCCTGCCCCGGCCGCATCGCTGC
CAAGCTCGCCTTCCTGCCGCCGGAGGCCACCTACTCCCTGGTGCCTGAGCCCGAGCCGGGGCCTGGTGGGGCCGGGGCCGCCCCCTTGGG
GACCCTGAGAGCCTCCTCGGGCGCACCCGGGCGCTGGAAGCTGCACCTGACGGAGCGTGCCGACTTCCAGTACAGCCAGCGCGAGCTGGA
CACCATCGAGGTCTTCCCCACCAAGAGCGCCCGCGGCAACCGCGTCTCCTGCATGTATGTTCGCTGCGTGCCTGGTGCCAGGCAAAATAC
ATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATTTA
CAGATGTTGGGATACGACATCAGCTGGGCCGCCTTCAACATCATAGAAGTGATGAGTGCCTCCAAGTTCACCTTCAAGCGAATTGGCTAC
CTCGCTGCTTCCCAGAGCTTTCACGAAGGCACCGACGTCATCATGCTGACCACCAATCAGATCCGTAAGGACTTGAGCAGCCCCAGCCAG
TACGACACAGGTGTTGCACTGACGGGTCTGTCCTGCTTCGTCACCCCAGACCTTGCCAGAGACCTGGCAAATGACATCATGACACTGATG
TCACACACCAAGCCCTACATCAGGAAGAAGGCTAAGCTGATCGAGCCCCTCACCAATCTCATCCACAGCACGTCTGCCATGTCTCTCCTC
TATGAATGTGTGAACACCGTGATTGCAGTGCTCATCTCGCTGTCCTCCGGCATGCCCAACCACAGCGCCAGCATCCAGCTTTGTGTTCAG
AAATTAAGGATATTGATCGAGGACTCCGATCAGAACTTGAAGTACCTGGGGCTGCTGGCAATGTCCAAGATCCTGAAGACCCACCCCAAG
TCCGTGCAGTCCCACAAGGACCTCATCCTGCAGTGCCTGGACGACAAGGACGAGTCCATCCGGCTGCGGGCCCTGGACCTGCTCTATGGG
ATGGTGTCCAAGAAGAACCTGATGGAGATCGTGAAGAAGCTGATGACCCACGTAGACAAGGCAGAGGGTACCACCTACCGTGACGAGCTG
CTCACCAAGATCATTGACATCTGCAGCCAGTCCAACTACCAGTACATCACCAACTTCGAGTGGTACATCAGCATCCTGGTGGAGCTGACC
CGGCTGGAGGGCACACGGCACGGCCACCTCATCGCCGCCCAAATGCTGGACGTGGCCATCCGCGTGAAGGCCATCCGCAAGTTCGCCGTG
TCCCAGATGTCTGCGCTGCTTGACAGTGCACACCTGCTGGCCAGCAGCACCCAGCGGAACGGGATCTGTGAGGTGCTGTACGCTGCCGCC
TGGATCTGCGGGGAGTTCTCAGAGCATCTGCAGGAACCACACCACACTTTGGAGGCCATGCTGCGGCCCAGAGTCACCACGCTGCCAGGC
CACATCCAGGCCGTGTATGTGCAGAACGTGGTCAAGCTCTACGCCTCCATCCTGCAGCAGAAGGAGCAGGCCGGGGAGGCAGAGGGCGCT
CAGGCCGTCACCCAGCTCATGGTGGACCGGCTGCCCCAGTTTGTGCAGAGCGCAGACCTGGAGGTGCAGGAGCGGGCGTCCTGCATCCTG
CAGCTGGTCAAGCACATCCAGAAGCTTCAGGCCAAGGACGTGCCTGTGGCAGAGGAGGTCAGCGCTCTCTTTGCTGGGGAGCTGAACCCA
GTGGCCCCCAAGGCCCAGAAGAAGGTTCCAGTCCCCGAAGGCCTGGACCTGGACGCCTGGATCAATGAGCCACTCTCGGACAGCGAGTCA
GAGGACGAGAGGCCCAGGGCCGTCTTCCACGAGGAGGAGCAGCGGCGTCCCAAGCACCGGCCGTCGGAGGCGGACGAGGAAGAGCTGGCT
CGGCGCCGAGAGGCCCGGAAGCAGGAGCAGGCCAACAACCCCTTCTACATCAAGAGCTCGCCATCGCCACAGAAGCGGTACCAGGACACC
CCGGGCGTGGAGCACATTCCCGTGGTGCAGATTGACCTCTCCGTCCCCTTGAAGGTTCCAGGGCTGCCTATGTCAGATCAGTATGTGAAG
CTGGAGGAGGAGCGGCGGCACCGGCAGAAGCTGGAGAAGGACAAGAGGAGGAAAAAGAGGAAGGAGAAGGAGAAGAAGGGCAAGCGCCGC
CACAGCTCGCTGCCCACGGAGAGCGACGAGGACATCGCCCCTGCCCAGCAGGTGGACATCGTCACAGAGGAGATGCCTGAGAATGCTCTG
CCCAGCGACGAGGATGACAAAGACCCCAACGACCCCTACAGGGCTCTGGATATTGACCTGGATAAGCCCTTAGCCGACAGCGAGAAACTG
CCTATTCAGAAACACAGAAACACCGAGACCTCAAAATCCCCTGAGAAGGACGTTCCCATGGTAGAAAAGAAGAGCAAGAAACCCAAGAAG
AAAGAGAAAAAACACAAAGAGAAAGAGAGAGACAAGGAGAAGAAGAAGGAGAAGGAGAAGAAGGCTGAGGACCTGGACTTCTGGCTGTCT
ACCACCCCACCGCCTGCCCCCGCCCCCGCCCCCGCCCCCGTTCCATCCACGGACGAGTGTGAGGACGCCAAGACGGAGGCGCAGGGCGAG
GAGGACGATGCCGAGGGGCAAGACCAGGACAAGAAATCTCCCAAGCCTAAGAAGAAGAAGCACAGGAAGGAGAAGGAGGAGCGGACCAAA
GGCAAGAAGAAGTCCAAGAAGCAGCCTCCAGGCAGCGAGGAGGCAGCGGGGGAGCCGGTGCAGAATGGCGCGCCAGAGGAGGAGCAGCTC
CCGCCTGAGTCCAGCTACTCCCTCCTCGCTGAAAATTCCTATGTTAAAATGACCTGTGACATCCGGGGCAGTCTGCAGGAGGACAGCCAG
GTCACTGTGGCCATCGTGCTGGAGAACAGGAGCAGCAGCATCCTCAAGGGCATGGAGCTCAGCGTGCTGGACTCACTCAATGCCAGGATG
GCCCGGCCGCAGGGCTCCTCCGTCCACGATGGCGTCCCCGTGCCTTTCCAGCTGCCCCCAGGCGTCTCCAACGAAGCCCAGTATGTGTTC
ACCATCCAGAGCATCGTCATGGCGCAGAAGCTCAAGGGGACCCTGTCCTTCATTGCCAAGAATGACGAGGGTGCGACCCACGAGAAGCTG
GACTTCAGGCTGCACTTCAGCTGCAGCTCCTACTTGATCACCACTCCCTGCTACAGTGACGCCTTTGCTAAGTTGCTGGAGTCTGGGGAC
TTGAGCATGAGCTCAATCAAAGTCGATGGCATTCGGATGTCCTTCCAGAATCTTCTGGCGAAGATCTGTTTTCACCACCATTTTTCCGTT
GTGGAGCGAGTGGACTCCTGCGCCTCCATGTACAGCCGCTCCATCCAGGGCCACCATGTCTGCCTCCTGGTGAAAAAGGGTGAGAACTCT
GTCTCAGTCGACGGGAAGTGCAGTGACTCCACGCTACTGAGCAACTTGTTAGAAGAGATGAAGGCGACGCTGGCCAAGTGTTGAGAGCTG
CCTGCGAGCCCCGCACCACCCCGCGGAGCACGTACCCAGGGACCGCAGCCCTGACGTGTCTCGCCTCTCCTCAGTCGTGTGTACTGTACC
CAAGCCTGAGTGTTAATTTAACTCTATGTTGTCCGCCGTGTAGACATCCGAGGTCATTTGTTGCGTTGAATTATCTGACCATCCTTTTTT
ACTGTGACTCTTCCCATTCTCTTTGGCAAGAAGTCCCCTTCTCGCCCCCAAACCAGCAAGGGACTCCCCCACCTGGGTCTGTGCCCTGCC
CCGCGCTGGGGGCCGAGTCCTTGAATGTGGCTTCAGGGGCTCCTGTCCTGGGCCAGGGCCTGATGGGCACCACGTGAGGGGCACTTGGTG
GACAGGGCGGGGCTGACGTGGCCTCCTCTGGGGTCGCCTGCTTTTGACCCAAAGGTCCTGACGGTTGCGTCCGGGGGAGGGGAAGGAAGG
GCCGCTGTCGCCAAGGTTTTCTCTCCCAGAACCCACAGTGGGAAAGCGGTCTTGCCAGGCGTTGTCCATTGTCAGTGTGCTCGTGGGCTG
GTGACTGGGTCTTGGGATCCCAGGCCACGCGCCAGCCAGGCTGTGGGCAGGGCGGGGCCAGGGACGCCAAAGAGAGGTTGCAGTCAGAAC
CGTGGACGGGGTGGGTTGAGGCCTCTCTGCCACCCGTCTTCCTGGTCAGCAGAAGTGCATCTCGGCTTGGGTTTGGGGTGGTCCGCATCC
CCTGCTTGCCACTATGCGCACCAAGGTTTCCCCACATCCTTCCCAGCACCCTTAGGAAGGCCCAGGCAGGGCCTGGAAGCAGCGGACCTG
GGCTGTTCTGTGTTGAAGGAGTGTGCCCAGTGCCCTTGGGCAGGACCTGTGAGAGCCACCTCACAGGCAGAGCCCCCACCAGGCAGGGCA
AGGAGACTCCGCTCACTCCCCACGGCCAGCGTGGGCACAGGACTGACCCTTCTTCAGAGATAATGACATTTTATCTTCTCCTTTTGATGA
AAACTGTCACTTTAGCATGTAATCCATTACAGAATCCCATGCAGTGATTCCAGGATTTGAAATTGTATGATGTGTTACATAAGAATTTAT
TTGCTATCGACATTCCCGTATAAAGAGAGAGACATATCACGCTGCTGTCATGATTTTGTGTCAAGATGATCCAATAAAGTTGTAAAACAG
GCA

>399_399_4_ABHD17A-AP3D1_ABHD17A_chr19_1881234_ENST00000590661_AP3D1_chr19_2138713_ENST00000356926_length(amino acids)=1126AA_BP=46
MEAAPDGACRLPVQPARAGHHRGLPHQERPRQPRLLHVCSLRAWCQAKYISQCIDEIKQELKQDNIAVKANAVCKLTYLQMLGYDISWAA
FNIIEVMSASKFTFKRIGYLAASQSFHEGTDVIMLTTNQIRKDLSSPSQYDTGVALTGLSCFVTPDLARDLANDIMTLMSHTKPYIRKKA
KLIEPLTNLIHSTSAMSLLYECVNTVIAVLISLSSGMPNHSASIQLCVQKLRILIEDSDQNLKYLGLLAMSKILKTHPKSVQSHKDLILQ
CLDDKDESIRLRALDLLYGMVSKKNLMEIVKKLMTHVDKAEGTTYRDELLTKIIDICSQSNYQYITNFEWYISILVELTRLEGTRHGHLI
AAQMLDVAIRVKAIRKFAVSQMSALLDSAHLLASSTQRNGICEVLYAAAWICGEFSEHLQEPHHTLEAMLRPRVTTLPGHIQAVYVQNVV
KLYASILQQKEQAGEAEGAQAVTQLMVDRLPQFVQSADLEVQERASCILQLVKHIQKLQAKDVPVAEEVSALFAGELNPVAPKAQKKVPV
PEGLDLDAWINEPLSDSESEDERPRAVFHEEEQRRPKHRPSEADEEELARRREARKQEQANNPFYIKSSPSPQKRYQDTPGVEHIPVVQI
DLSVPLKVPGLPMSDQYVKLEEERRHRQKLEKDKRRKKRKEKEKKGKRRHSSLPTESDEDIAPAQQVDIVTEEMPENALPSDEDDKDPND
PYRALDIDLDKPLADSEKLPIQKHRNTETSKSPEKDVPMVEKKSKKPKKKEKKHKEKERDKEKKKEKEKKAEDLDFWLSTTPPPAPAPAP
APVPSTDECEDAKTEAQGEEDDAEGQDQDKKSPKPKKKKHRKEKEERTKGKKKSKKQPPGSEEAAGEPVQNGAPEEEQLPPESSYSLLAE
NSYVKMTCDIRGSLQEDSQVTVAIVLENRSSSILKGMELSVLDSLNARMARPQGSSVHDGVPVPFQLPPGVSNEAQYVFTIQSIVMAQKL
KGTLSFIAKNDEGATHEKLDFRLHFSCSSYLITTPCYSDAFAKLLESGDLSMSSIKVDGIRMSFQNLLAKICFHHHFSVVERVDSCASMY
SRSIQGHHVCLLVKKGENSVSVDGKCSDSTLLSNLLEEMKATLAKC

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Fusion Gene PPI Analysis for ABHD17A-AP3D1


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 ABHD17A-AP3D1


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 ABHD17A-AP3D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0001916Albinism1GENOMICS_ENGLAND
TgeneC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
TgeneC0027947Neutropenia1GENOMICS_ENGLAND
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0078917Albinism, Ocular1ORPHANET
TgeneC0079504Hermanski-Pudlak Syndrome1CTD_human;GENOMICS_ENGLAND
TgeneC4310746HERMANSKY-PUDLAK SYNDROME 101GENOMICS_ENGLAND