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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:AP3D1-OSBPL1A (FusionGDB2 ID:HG8943TG114876)

Fusion Gene Summary for AP3D1-OSBPL1A

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3D1-OSBPL1A
Fusion gene ID: hg8943tg114876
HgeneTgene
Gene symbol

AP3D1

OSBPL1A

Gene ID

8943

114876

Gene nameadaptor related protein complex 3 subunit delta 1oxysterol binding protein like 1A
SynonymsADTD|HPS10|hBLVRORP-1|ORP1|OSBPL1B
Cytomap('AP3D1')('OSBPL1A')

19p13.3

18q11.2

Type of geneprotein-codingprotein-coding
DescriptionAP-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-3oxysterol-binding protein-related protein 1OSBP-related protein 1oxysterol binding protein-like 1Boxysterol-binding protein-related protein 1 variant 1oxysterol-binding protein-related protein 1 variant 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000345016, ENST00000350812, 
ENST00000355272, ENST00000356926, 
ENST00000590683, 
Fusion gene scores* DoF score16 X 16 X 10=256018 X 15 X 10=2700
# samples 1919
** MAII scorelog2(19/2560*10)=-3.75207248655641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/2700*10)=-3.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP3D1 [Title/Abstract] AND OSBPL1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP3D1(2138617)-OSBPL1A(21946930), # samples:1
Anticipated loss of major functional domain due to fusion event.AP3D1-OSBPL1A 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.
AP3D1-OSBPL1A 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.
AP3D1-OSBPL1A 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.
AP3D1-OSBPL1A 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

check buttonFusion gene breakpoints across AP3D1 (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 OSBPL1A (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-7958AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-


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Fusion Gene ORF analysis for AP3D1-OSBPL1A

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-5UTRENST00000345016ENST00000582618AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-5UTRENST00000350812ENST00000582618AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-5UTRENST00000355272ENST00000582618AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-5UTRENST00000356926ENST00000582618AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000345016ENST00000357041AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000345016ENST00000399441AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000345016ENST00000399443AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000350812ENST00000357041AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000350812ENST00000399441AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000350812ENST00000399443AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000355272ENST00000357041AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000355272ENST00000399441AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000355272ENST00000399443AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000356926ENST00000357041AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000356926ENST00000399441AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
5CDS-intronENST00000356926ENST00000399443AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
In-frameENST00000345016ENST00000319481AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
In-frameENST00000350812ENST00000319481AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
In-frameENST00000355272ENST00000319481AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
In-frameENST00000356926ENST00000319481AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
intron-3CDSENST00000590683ENST00000319481AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
intron-5UTRENST00000590683ENST00000582618AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
intron-intronENST00000590683ENST00000357041AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
intron-intronENST00000590683ENST00000399441AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-
intron-intronENST00000590683ENST00000399443AP3D1chr19

2138617

-OSBPL1Achr18

21946930

-

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)
ENST00000355272AP3D1chr192138617-ENST00000319481OSBPL1Achr1821946930-4180399903044984
ENST00000356926AP3D1chr192138617-ENST00000319481OSBPL1Achr1821946930-41964151063060984
ENST00000350812AP3D1chr192138617-ENST00000319481OSBPL1Achr1821946930-4179398893043984
ENST00000345016AP3D1chr192138617-ENST00000319481OSBPL1Achr1821946930-42054241153069984

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
ENST00000355272ENST00000319481AP3D1chr192138617-OSBPL1Achr1821946930-0.0003500690.9996499
ENST00000356926ENST00000319481AP3D1chr192138617-OSBPL1Achr1821946930-0.0003559260.99964404
ENST00000350812ENST00000319481AP3D1chr192138617-OSBPL1Achr1821946930-0.0003516180.99964833
ENST00000345016ENST00000319481AP3D1chr192138617-OSBPL1Achr1821946930-0.0003583830.99964166

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Fusion Genomic Features for AP3D1-OSBPL1A


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 AP3D1-OSBPL1A


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/chr19:2138617/chr18:21946930)
- 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
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000319481228430_46369951.0Coiled coilOntology_term=ECO:0000255
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000319481228877_91369951.0Coiled coilOntology_term=ECO:0000255
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000357041016430_4630569.0Coiled coilOntology_term=ECO:0000255
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000357041016877_9130569.0Coiled coilOntology_term=ECO:0000255
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000399443014430_4630438.0Coiled coilOntology_term=ECO:0000255
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000399443014877_9130438.0Coiled coilOntology_term=ECO:0000255
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000319481228235_33469951.0DomainPH
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000357041016235_3340569.0DomainPH
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000399443014235_3340438.0DomainPH
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000319481228469_48369951.0MotifFFAT
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000357041016469_4830569.0MotifFFAT
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000399443014469_4830438.0MotifFFAT
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000319481228175_20469951.0RepeatNote=ANK 3
TgeneOSBPL1Achr19:2138617chr18:21946930ENST0000031948122880_10969951.0RepeatNote=ANK 2
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000357041016175_2040569.0RepeatNote=ANK 3
TgeneOSBPL1Achr19:2138617chr18:21946930ENST0000035704101647_760569.0RepeatNote=ANK 1
TgeneOSBPL1Achr19:2138617chr18:21946930ENST0000035704101680_1090569.0RepeatNote=ANK 2
TgeneOSBPL1Achr19:2138617chr18:21946930ENST00000399443014175_2040438.0RepeatNote=ANK 3
TgeneOSBPL1Achr19:2138617chr18:21946930ENST0000039944301447_760438.0RepeatNote=ANK 1
TgeneOSBPL1Achr19:2138617chr18:21946930ENST0000039944301480_1090438.0RepeatNote=ANK 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230659_679641154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230725_756641154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230845_869641154.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232659_679641216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232725_756641216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232845_869641216.0Coiled coilOntology_term=ECO:0000255
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230828_893641154.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232828_893641216.0Compositional biasNote=Lys-rich
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230142_179641154.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230180_216641154.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230254_292641154.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230299_336641154.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230338_373641154.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-23034_71641154.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230375_409641154.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230431_468641154.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230497_535641154.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-230548_585641154.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2138617chr18:21946930ENST00000345016-23077_114641154.0RepeatNote=HEAT 2
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232142_179641216.0RepeatNote=HEAT 3
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232180_216641216.0RepeatNote=HEAT 4
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232254_292641216.0RepeatNote=HEAT 5
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232299_336641216.0RepeatNote=HEAT 6
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232338_373641216.0RepeatNote=HEAT 7
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-23234_71641216.0RepeatNote=HEAT 1
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232375_409641216.0RepeatNote=HEAT 8
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232431_468641216.0RepeatNote=HEAT 9
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232497_535641216.0RepeatNote=HEAT 10
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-232548_585641216.0RepeatNote=HEAT 11
HgeneAP3D1chr19:2138617chr18:21946930ENST00000355272-23277_114641216.0RepeatNote=HEAT 2
TgeneOSBPL1Achr19:2138617chr18:21946930ENST0000031948122847_7669951.0RepeatNote=ANK 1


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Fusion Gene Sequence for AP3D1-OSBPL1A


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.
>5281_5281_1_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000345016_OSBPL1A_chr18_21946930_ENST00000319481_length(transcript)=4205nt_BP=424nt
GCCGCCATCTTGTCCGCCATTTGCAAGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGAC
CCCGCCGCCGCCCTGGCCTGGGAGCTTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCC
TCACGGCGCCCAGCCGCGGGCCTCCCGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCAT
GTTCGACAAGAATCTGCAGGACTTGGTCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGAT
CAAGCAGGAGCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGCTGGTGCAGAAGTGAATGTGTTGAA
TGACATGGGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGAGTTGGTAATGCTTCTCTTAGAATATAATGCTGATACTAC
TATTGTTAATGGGAGTGGACAGACAGCAAAAGAAGTTACTCATGCTGAAGAAATCAGAAGCATGCTTGAAGCTGTAGAAAGGACTCAACA
AAGAAAGCTTGAAGAATTACTTTTAGCAGCAGCAAGAGAAGGCAAAACAACAGAACTCACAGCTCTGCTCAACAGGCCCAATCCTCCTGA
TGTTAACTGTTCGGATCAGTTAGGAAATACACCCTTGCATTGTGCAGCTTACCGGGCCCATAAACAATGTGCCTTAAAGCTTCTAAGAAG
TGGAGCAGACCCTAATCTGAAGAACAAAAATGATCAGAAACCTCTTGACCTTGCCCAGGGTGCTGAAATGAAACACATTCTTGTTGGTAA
TAAGGTCATCTACAAAGCATTGAAACGATATGAGGGCCCTCTCTGGAAGAGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTT
AGAGCATGGAGTCCTTTCATGGTATAGGAAACAGCCTGATGCAGTTCATAATATTTATCGCCAGGGATGCAAACACCTGACTCAAGCAGT
ATGCACGGTAAAATCCACTGATAGCTGCCTCTTCTTTATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCT
TCAGCAGTCAAGAGAGGACTGGCTGGAAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGTTCCCAGGACCAGCTGACTGATGA
GGAGGAGGAAGATACGGTTTCTGCTGCAGACCTGAAGAAATCATTAGAGAAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTC
CAACTTTCTCAAAATGATTAAGGAGTGTGACATGGCTAAAGAAATGCTTCCATCATTTCTTCAGAAAGTTGAAGTTGTCTCAGAAGCTTC
TAGAGAAACTTGTGTAGCTTTGACTGATTGCCTTAATCTCTTCACCAAACAAGAAGGGGTGAGGAATTTTAAATTGGAACAAGAGCAAGA
AAAAAACAAAATCTTGTCAGAAGCACTGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCTCTGGTGAAAGGCTCTCCACCCGC
CAGCATCCTTAGCGAGGACGAGTTCTATGATGCGCTGTCAGATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACG
CTCCTTTGAAGAGGAAGGAGAGCATTTGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGTGGTGGCGGAGATGCTCTCTCCAA
TGGCATCAAGAAACACAGAACAAGTTTGCCTTCTCCTATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGG
AATGGAACTATCCAAGATCACGATGCCAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTAACTGAATACATGGAGCATACTTA
CCTCATCCACAAGGCCAGTTCACTCTCTGATCCTGTGGAAAGGATGCAGTGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTG
GGAACGGACTGGAAAACCTTTCAACCCACTGCTGGGAGAGACTTATGAATTAGTGCGAGATGACCTTGGATTTAGACTCATCTCCGAACA
GGTCAGCCATCACCCACCAATCAGTGCATTTCATGCTGAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAA
ATTCTGGGGGAAGAGTGTAGAAGCAGAACCCAAAGGAACCATCACCTTGGAGCTCCTTGAACACAATGAGGCATATACATGGACAAATCC
CACCTGCTGTGTGCATAATATCATTGTGGGTAAACTGTGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAAGACTGGGGACAA
ATGTGTGTTGAATTTTAAGCCATGTGGCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATTCAAGATAAAAGCAAAAAGAAGCT
CTGTGCCCTCTATGGGAAGTGGACTGAATGTTTATACAGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATAC
AGAAGAGAAGAAGAACAGCAAACAGATGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGATTCTGAAAGTGTATTCATTATCCC
TGGAAGCGTTCTTCTATGGCGAATAGCCCCACGGCCTCCAAATTCTGCCCAGATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGA
AGTAGACAAAGACATGGAGAGTGTGATTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCCATGGAAAATGGAGAGATAGATCA
AGCTAGTGAAGAAAAAAAACGACTTGAGGAAAAACAAAGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAGGTG
GTTCCATCAAGGTCCTAATCCCTACAATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGACAGAAATTACTTCAATTTGCCTGA
CATTTATTAAAATGCATACAAGTCAGGGTGTTTGGCTAATCTACAAATAAGTCTTAAACCTATGTTTTTAAATTTTTTTCCCTTGGTTTC
TACTTATCTTTTAAAAAAAAAAATGAAAAAACACTCATGAGATAACTGCATTTCACCCAACAAAAGCAGGGTATAAGGCGATATTGGTGA
TGAAAGTCTTAGGAAAAATGCATAATTTTGCTATAAAATGTACTTATTTGGAATACTATTTTATATAGAGGTAAGAGAACACTGCTGGGG
AATATGCTTTTTATGGTTGCTGTTGCCATATTTACTGAAGGTTTATACCTAAATGTAACTTTAGCTTTATGGAACTATATAGTAATCCCA
AATCAAGTTATTTTGAATATTTTTATGCTGTCATGCTTGAATGTTTTAGATGTAACCTTTGACATATTTAGAACTCTCCTCCTATACAAT
GTTTATTCTCAGATATAGAGGTTATGTCATTTTATAAAGACTTCATTGATAAGATGGCTTTTATTCATACTAATCCTCCCAATGTTACCC
CTTCCATCTTCCAAGAAGAAAAAAAATGCCTGAATATTCAGAATAGATATTTCTGATTTGAAAATTCTAAAGAATTAAACTGGAAAAGTA
TTTCATTTACTTAGTGCTCTGAATTTACTTTTACAGTTTTCTGCAGTCAGTATCATTAAAATGGTTAAGTTTACATTTGAACTGAAAATA
TGTATAAAATCTAGCAATTCACAAAAATGCCCTAGAAATATAGATTTTAATCACCATTACATAATGACAAACCTTGTTAAATGCTTCCAC
TTCCAGTGGCAAATGCCACTAGGGAAAGTAAGTTGCACTCATGTAAGTATCAAACTATATAAAAGGAGGCCTTGTGCATTTCAAGTTTGC
AAAGTACCTGTGTACTTAAAATATGTGTGGAGACCTACTGTACAGTAGTTTTGCCCCTTTAATTGGGGCACATTCATCTTAAATCTTATA
GTATTTATCCACCCAAACCCCAGACTGAGATACTGCTCCCAGGGGCCTAGGTAGCTGCCAGTCCGTGATTTTAATTGCTGTCTTGAAGTT

>5281_5281_1_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000345016_OSBPL1A_chr18_21946930_ENST00000319481_length(amino acids)=984AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYAGAEVNVLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEVTHAEEIRSMLEAVERTQQRKLEELLL
AAAREGKTTELTALLNRPNPPDVNCSDQLGNTPLHCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHILVGNKVIYKALK
RYEGPLWKSSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFFIKCFDDTIHGFRVPKNSLQQSREDWL
EAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALT
DCLNLFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEH
LGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSL
SDPVERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYPKLKFWGKSVEA
EPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWT
ECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESV

--------------------------------------------------------------
>5281_5281_2_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000350812_OSBPL1A_chr18_21946930_ENST00000319481_length(transcript)=4179nt_BP=398nt
GGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGACCCCGCCGCCGCCCTGGCCTGGGAGCT
TGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCCTCACGGCGCCCAGCCGCGGGCCTCCC
GAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCATGTTCGACAAGAATCTGCAGGACTTGG
TCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAACA
TAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCATC
GAGCTGCCTTTACAGGACGAAAGGAGTTGGTAATGCTTCTCTTAGAATATAATGCTGATACTACTATTGTTAATGGGAGTGGACAGACAG
CAAAAGAAGTTACTCATGCTGAAGAAATCAGAAGCATGCTTGAAGCTGTAGAAAGGACTCAACAAAGAAAGCTTGAAGAATTACTTTTAG
CAGCAGCAAGAGAAGGCAAAACAACAGAACTCACAGCTCTGCTCAACAGGCCCAATCCTCCTGATGTTAACTGTTCGGATCAGTTAGGAA
ATACACCCTTGCATTGTGCAGCTTACCGGGCCCATAAACAATGTGCCTTAAAGCTTCTAAGAAGTGGAGCAGACCCTAATCTGAAGAACA
AAAATGATCAGAAACCTCTTGACCTTGCCCAGGGTGCTGAAATGAAACACATTCTTGTTGGTAATAAGGTCATCTACAAAGCATTGAAAC
GATATGAGGGCCCTCTCTGGAAGAGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTTAGAGCATGGAGTCCTTTCATGGTATA
GGAAACAGCCTGATGCAGTTCATAATATTTATCGCCAGGGATGCAAACACCTGACTCAAGCAGTATGCACGGTAAAATCCACTGATAGCT
GCCTCTTCTTTATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCTTCAGCAGTCAAGAGAGGACTGGCTGG
AAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGTTCCCAGGACCAGCTGACTGATGAGGAGGAGGAAGATACGGTTTCTGCTG
CAGACCTGAAGAAATCATTAGAGAAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTCCAACTTTCTCAAAATGATTAAGGAGT
GTGACATGGCTAAAGAAATGCTTCCATCATTTCTTCAGAAAGTTGAAGTTGTCTCAGAAGCTTCTAGAGAAACTTGTGTAGCTTTGACTG
ATTGCCTTAATCTCTTCACCAAACAAGAAGGGGTGAGGAATTTTAAATTGGAACAAGAGCAAGAAAAAAACAAAATCTTGTCAGAAGCAC
TGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCTCTGGTGAAAGGCTCTCCACCCGCCAGCATCCTTAGCGAGGACGAGTTCT
ATGATGCGCTGTCAGATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACGCTCCTTTGAAGAGGAAGGAGAGCATT
TGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGTGGTGGCGGAGATGCTCTCTCCAATGGCATCAAGAAACACAGAACAAGTT
TGCCTTCTCCTATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGGAATGGAACTATCCAAGATCACGATGC
CAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTAACTGAATACATGGAGCATACTTACCTCATCCACAAGGCCAGTTCACTCT
CTGATCCTGTGGAAAGGATGCAGTGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTGGGAACGGACTGGAAAACCTTTCAACC
CACTGCTGGGAGAGACTTATGAATTAGTGCGAGATGACCTTGGATTTAGACTCATCTCCGAACAGGTCAGCCATCACCCACCAATCAGTG
CATTTCATGCTGAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAAATTCTGGGGGAAGAGTGTAGAAGCAG
AACCCAAAGGAACCATCACCTTGGAGCTCCTTGAACACAATGAGGCATATACATGGACAAATCCCACCTGCTGTGTGCATAATATCATTG
TGGGTAAACTGTGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAAGACTGGGGACAAATGTGTGTTGAATTTTAAGCCATGTG
GCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATTCAAGATAAAAGCAAAAAGAAGCTCTGTGCCCTCTATGGGAAGTGGACTG
AATGTTTATACAGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATACAGAAGAGAAGAAGAACAGCAAACAGA
TGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGATTCTGAAAGTGTATTCATTATCCCTGGAAGCGTTCTTCTATGGCGAATAG
CCCCACGGCCTCCAAATTCTGCCCAGATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGAAGTAGACAAAGACATGGAGAGTGTGA
TTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCCATGGAAAATGGAGAGATAGATCAAGCTAGTGAAGAAAAAAAACGACTTG
AGGAAAAACAAAGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAGGTGGTTCCATCAAGGTCCTAATCCCTACA
ATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGACAGAAATTACTTCAATTTGCCTGACATTTATTAAAATGCATACAAGTCAG
GGTGTTTGGCTAATCTACAAATAAGTCTTAAACCTATGTTTTTAAATTTTTTTCCCTTGGTTTCTACTTATCTTTTAAAAAAAAAAATGA
AAAAACACTCATGAGATAACTGCATTTCACCCAACAAAAGCAGGGTATAAGGCGATATTGGTGATGAAAGTCTTAGGAAAAATGCATAAT
TTTGCTATAAAATGTACTTATTTGGAATACTATTTTATATAGAGGTAAGAGAACACTGCTGGGGAATATGCTTTTTATGGTTGCTGTTGC
CATATTTACTGAAGGTTTATACCTAAATGTAACTTTAGCTTTATGGAACTATATAGTAATCCCAAATCAAGTTATTTTGAATATTTTTAT
GCTGTCATGCTTGAATGTTTTAGATGTAACCTTTGACATATTTAGAACTCTCCTCCTATACAATGTTTATTCTCAGATATAGAGGTTATG
TCATTTTATAAAGACTTCATTGATAAGATGGCTTTTATTCATACTAATCCTCCCAATGTTACCCCTTCCATCTTCCAAGAAGAAAAAAAA
TGCCTGAATATTCAGAATAGATATTTCTGATTTGAAAATTCTAAAGAATTAAACTGGAAAAGTATTTCATTTACTTAGTGCTCTGAATTT
ACTTTTACAGTTTTCTGCAGTCAGTATCATTAAAATGGTTAAGTTTACATTTGAACTGAAAATATGTATAAAATCTAGCAATTCACAAAA
ATGCCCTAGAAATATAGATTTTAATCACCATTACATAATGACAAACCTTGTTAAATGCTTCCACTTCCAGTGGCAAATGCCACTAGGGAA
AGTAAGTTGCACTCATGTAAGTATCAAACTATATAAAAGGAGGCCTTGTGCATTTCAAGTTTGCAAAGTACCTGTGTACTTAAAATATGT
GTGGAGACCTACTGTACAGTAGTTTTGCCCCTTTAATTGGGGCACATTCATCTTAAATCTTATAGTATTTATCCACCCAAACCCCAGACT
GAGATACTGCTCCCAGGGGCCTAGGTAGCTGCCAGTCCGTGATTTTAATTGCTGTCTTGAAGTTAACAAGTGTTATAATGAAATAATCTA

>5281_5281_2_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000350812_OSBPL1A_chr18_21946930_ENST00000319481_length(amino acids)=984AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYAGAEVNVLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEVTHAEEIRSMLEAVERTQQRKLEELLL
AAAREGKTTELTALLNRPNPPDVNCSDQLGNTPLHCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHILVGNKVIYKALK
RYEGPLWKSSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFFIKCFDDTIHGFRVPKNSLQQSREDWL
EAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALT
DCLNLFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEH
LGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSL
SDPVERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYPKLKFWGKSVEA
EPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWT
ECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESV

--------------------------------------------------------------
>5281_5281_3_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000355272_OSBPL1A_chr18_21946930_ENST00000319481_length(transcript)=4180nt_BP=399nt
AGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGACCCCGCCGCCGCCCTGGCCTGGGAGC
TTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCCTCACGGCGCCCAGCCGCGGGCCTCC
CGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCATGTTCGACAAGAATCTGCAGGACTTG
GTCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGAGCTGAAGCAGGACAAC
ATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGGAGACACGCCGCTTCAT
CGAGCTGCCTTTACAGGACGAAAGGAGTTGGTAATGCTTCTCTTAGAATATAATGCTGATACTACTATTGTTAATGGGAGTGGACAGACA
GCAAAAGAAGTTACTCATGCTGAAGAAATCAGAAGCATGCTTGAAGCTGTAGAAAGGACTCAACAAAGAAAGCTTGAAGAATTACTTTTA
GCAGCAGCAAGAGAAGGCAAAACAACAGAACTCACAGCTCTGCTCAACAGGCCCAATCCTCCTGATGTTAACTGTTCGGATCAGTTAGGA
AATACACCCTTGCATTGTGCAGCTTACCGGGCCCATAAACAATGTGCCTTAAAGCTTCTAAGAAGTGGAGCAGACCCTAATCTGAAGAAC
AAAAATGATCAGAAACCTCTTGACCTTGCCCAGGGTGCTGAAATGAAACACATTCTTGTTGGTAATAAGGTCATCTACAAAGCATTGAAA
CGATATGAGGGCCCTCTCTGGAAGAGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTTAGAGCATGGAGTCCTTTCATGGTAT
AGGAAACAGCCTGATGCAGTTCATAATATTTATCGCCAGGGATGCAAACACCTGACTCAAGCAGTATGCACGGTAAAATCCACTGATAGC
TGCCTCTTCTTTATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCTTCAGCAGTCAAGAGAGGACTGGCTG
GAAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGTTCCCAGGACCAGCTGACTGATGAGGAGGAGGAAGATACGGTTTCTGCT
GCAGACCTGAAGAAATCATTAGAGAAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTCCAACTTTCTCAAAATGATTAAGGAG
TGTGACATGGCTAAAGAAATGCTTCCATCATTTCTTCAGAAAGTTGAAGTTGTCTCAGAAGCTTCTAGAGAAACTTGTGTAGCTTTGACT
GATTGCCTTAATCTCTTCACCAAACAAGAAGGGGTGAGGAATTTTAAATTGGAACAAGAGCAAGAAAAAAACAAAATCTTGTCAGAAGCA
CTGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCTCTGGTGAAAGGCTCTCCACCCGCCAGCATCCTTAGCGAGGACGAGTTC
TATGATGCGCTGTCAGATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACGCTCCTTTGAAGAGGAAGGAGAGCAT
TTGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGTGGTGGCGGAGATGCTCTCTCCAATGGCATCAAGAAACACAGAACAAGT
TTGCCTTCTCCTATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGGAATGGAACTATCCAAGATCACGATG
CCAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTAACTGAATACATGGAGCATACTTACCTCATCCACAAGGCCAGTTCACTC
TCTGATCCTGTGGAAAGGATGCAGTGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTGGGAACGGACTGGAAAACCTTTCAAC
CCACTGCTGGGAGAGACTTATGAATTAGTGCGAGATGACCTTGGATTTAGACTCATCTCCGAACAGGTCAGCCATCACCCACCAATCAGT
GCATTTCATGCTGAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAAATTCTGGGGGAAGAGTGTAGAAGCA
GAACCCAAAGGAACCATCACCTTGGAGCTCCTTGAACACAATGAGGCATATACATGGACAAATCCCACCTGCTGTGTGCATAATATCATT
GTGGGTAAACTGTGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAAGACTGGGGACAAATGTGTGTTGAATTTTAAGCCATGT
GGCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATTCAAGATAAAAGCAAAAAGAAGCTCTGTGCCCTCTATGGGAAGTGGACT
GAATGTTTATACAGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATACAGAAGAGAAGAAGAACAGCAAACAG
ATGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGATTCTGAAAGTGTATTCATTATCCCTGGAAGCGTTCTTCTATGGCGAATA
GCCCCACGGCCTCCAAATTCTGCCCAGATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGAAGTAGACAAAGACATGGAGAGTGTG
ATTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCCATGGAAAATGGAGAGATAGATCAAGCTAGTGAAGAAAAAAAACGACTT
GAGGAAAAACAAAGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAGGTGGTTCCATCAAGGTCCTAATCCCTAC
AATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGACAGAAATTACTTCAATTTGCCTGACATTTATTAAAATGCATACAAGTCA
GGGTGTTTGGCTAATCTACAAATAAGTCTTAAACCTATGTTTTTAAATTTTTTTCCCTTGGTTTCTACTTATCTTTTAAAAAAAAAAATG
AAAAAACACTCATGAGATAACTGCATTTCACCCAACAAAAGCAGGGTATAAGGCGATATTGGTGATGAAAGTCTTAGGAAAAATGCATAA
TTTTGCTATAAAATGTACTTATTTGGAATACTATTTTATATAGAGGTAAGAGAACACTGCTGGGGAATATGCTTTTTATGGTTGCTGTTG
CCATATTTACTGAAGGTTTATACCTAAATGTAACTTTAGCTTTATGGAACTATATAGTAATCCCAAATCAAGTTATTTTGAATATTTTTA
TGCTGTCATGCTTGAATGTTTTAGATGTAACCTTTGACATATTTAGAACTCTCCTCCTATACAATGTTTATTCTCAGATATAGAGGTTAT
GTCATTTTATAAAGACTTCATTGATAAGATGGCTTTTATTCATACTAATCCTCCCAATGTTACCCCTTCCATCTTCCAAGAAGAAAAAAA
ATGCCTGAATATTCAGAATAGATATTTCTGATTTGAAAATTCTAAAGAATTAAACTGGAAAAGTATTTCATTTACTTAGTGCTCTGAATT
TACTTTTACAGTTTTCTGCAGTCAGTATCATTAAAATGGTTAAGTTTACATTTGAACTGAAAATATGTATAAAATCTAGCAATTCACAAA
AATGCCCTAGAAATATAGATTTTAATCACCATTACATAATGACAAACCTTGTTAAATGCTTCCACTTCCAGTGGCAAATGCCACTAGGGA
AAGTAAGTTGCACTCATGTAAGTATCAAACTATATAAAAGGAGGCCTTGTGCATTTCAAGTTTGCAAAGTACCTGTGTACTTAAAATATG
TGTGGAGACCTACTGTACAGTAGTTTTGCCCCTTTAATTGGGGCACATTCATCTTAAATCTTATAGTATTTATCCACCCAAACCCCAGAC
TGAGATACTGCTCCCAGGGGCCTAGGTAGCTGCCAGTCCGTGATTTTAATTGCTGTCTTGAAGTTAACAAGTGTTATAATGAAATAATCT

>5281_5281_3_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000355272_OSBPL1A_chr18_21946930_ENST00000319481_length(amino acids)=984AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYAGAEVNVLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEVTHAEEIRSMLEAVERTQQRKLEELLL
AAAREGKTTELTALLNRPNPPDVNCSDQLGNTPLHCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHILVGNKVIYKALK
RYEGPLWKSSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFFIKCFDDTIHGFRVPKNSLQQSREDWL
EAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALT
DCLNLFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEH
LGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSL
SDPVERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYPKLKFWGKSVEA
EPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWT
ECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESV

--------------------------------------------------------------
>5281_5281_4_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000356926_OSBPL1A_chr18_21946930_ENST00000319481_length(transcript)=4196nt_BP=415nt
TTGTCCGCCATTTGCAAGGGGCCCGGAGCGGGATCGCGGCACCTGCCGAGCGGGTCGCCGCCTCTGCCGCGGTCCTTGGACCCCGCCGCC
GCCCTGGCCTGGGAGCTTGCCCCGCCGCAGCGGCCGGCAGCGCGGCGCTCCGCGGGCGGCAGGCACGGGCCCCGGGCCCCCTCACGGCGC
CCAGCCGCGGGCCTCCCGAGGCAAAAGCCCGTGGGCCGCCGCGATGGCCCTCAAGATGGTGAAGGGCAGCATCGACCGCATGTTCGACAA
GAATCTGCAGGACTTGGTCCGCGGCATCCGTAACCACAAGGAGGACGAGGCAAAATACATATCTCAGTGCATTGATGAGATCAAGCAGGA
GCTGAAGCAGGACAACATAGCGGTGAAGGCGAACGCGGTCTGCAAGCTGACGTATGCTGGTGCAGAAGTGAATGTGTTGAATGACATGGG
AGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAGGAGTTGGTAATGCTTCTCTTAGAATATAATGCTGATACTACTATTGTTAA
TGGGAGTGGACAGACAGCAAAAGAAGTTACTCATGCTGAAGAAATCAGAAGCATGCTTGAAGCTGTAGAAAGGACTCAACAAAGAAAGCT
TGAAGAATTACTTTTAGCAGCAGCAAGAGAAGGCAAAACAACAGAACTCACAGCTCTGCTCAACAGGCCCAATCCTCCTGATGTTAACTG
TTCGGATCAGTTAGGAAATACACCCTTGCATTGTGCAGCTTACCGGGCCCATAAACAATGTGCCTTAAAGCTTCTAAGAAGTGGAGCAGA
CCCTAATCTGAAGAACAAAAATGATCAGAAACCTCTTGACCTTGCCCAGGGTGCTGAAATGAAACACATTCTTGTTGGTAATAAGGTCAT
CTACAAAGCATTGAAACGATATGAGGGCCCTCTCTGGAAGAGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTTAGAGCATGG
AGTCCTTTCATGGTATAGGAAACAGCCTGATGCAGTTCATAATATTTATCGCCAGGGATGCAAACACCTGACTCAAGCAGTATGCACGGT
AAAATCCACTGATAGCTGCCTCTTCTTTATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCTTCAGCAGTC
AAGAGAGGACTGGCTGGAAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGTTCCCAGGACCAGCTGACTGATGAGGAGGAGGA
AGATACGGTTTCTGCTGCAGACCTGAAGAAATCATTAGAGAAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTCCAACTTTCT
CAAAATGATTAAGGAGTGTGACATGGCTAAAGAAATGCTTCCATCATTTCTTCAGAAAGTTGAAGTTGTCTCAGAAGCTTCTAGAGAAAC
TTGTGTAGCTTTGACTGATTGCCTTAATCTCTTCACCAAACAAGAAGGGGTGAGGAATTTTAAATTGGAACAAGAGCAAGAAAAAAACAA
AATCTTGTCAGAAGCACTGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCTCTGGTGAAAGGCTCTCCACCCGCCAGCATCCT
TAGCGAGGACGAGTTCTATGATGCGCTGTCAGATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACGCTCCTTTGA
AGAGGAAGGAGAGCATTTGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGTGGTGGCGGAGATGCTCTCTCCAATGGCATCAA
GAAACACAGAACAAGTTTGCCTTCTCCTATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGGAATGGAACT
ATCCAAGATCACGATGCCAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTAACTGAATACATGGAGCATACTTACCTCATCCA
CAAGGCCAGTTCACTCTCTGATCCTGTGGAAAGGATGCAGTGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTGGGAACGGAC
TGGAAAACCTTTCAACCCACTGCTGGGAGAGACTTATGAATTAGTGCGAGATGACCTTGGATTTAGACTCATCTCCGAACAGGTCAGCCA
TCACCCACCAATCAGTGCATTTCATGCTGAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAAATTCTGGGG
GAAGAGTGTAGAAGCAGAACCCAAAGGAACCATCACCTTGGAGCTCCTTGAACACAATGAGGCATATACATGGACAAATCCCACCTGCTG
TGTGCATAATATCATTGTGGGTAAACTGTGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAAGACTGGGGACAAATGTGTGTT
GAATTTTAAGCCATGTGGCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATTCAAGATAAAAGCAAAAAGAAGCTCTGTGCCCT
CTATGGGAAGTGGACTGAATGTTTATACAGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATACAGAAGAGAA
GAAGAACAGCAAACAGATGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGATTCTGAAAGTGTATTCATTATCCCTGGAAGCGT
TCTTCTATGGCGAATAGCCCCACGGCCTCCAAATTCTGCCCAGATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGAAGTAGACAA
AGACATGGAGAGTGTGATTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCCATGGAAAATGGAGAGATAGATCAAGCTAGTGA
AGAAAAAAAACGACTTGAGGAAAAACAAAGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAGGTGGTTCCATCA
AGGTCCTAATCCCTACAATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGACAGAAATTACTTCAATTTGCCTGACATTTATTA
AAATGCATACAAGTCAGGGTGTTTGGCTAATCTACAAATAAGTCTTAAACCTATGTTTTTAAATTTTTTTCCCTTGGTTTCTACTTATCT
TTTAAAAAAAAAAATGAAAAAACACTCATGAGATAACTGCATTTCACCCAACAAAAGCAGGGTATAAGGCGATATTGGTGATGAAAGTCT
TAGGAAAAATGCATAATTTTGCTATAAAATGTACTTATTTGGAATACTATTTTATATAGAGGTAAGAGAACACTGCTGGGGAATATGCTT
TTTATGGTTGCTGTTGCCATATTTACTGAAGGTTTATACCTAAATGTAACTTTAGCTTTATGGAACTATATAGTAATCCCAAATCAAGTT
ATTTTGAATATTTTTATGCTGTCATGCTTGAATGTTTTAGATGTAACCTTTGACATATTTAGAACTCTCCTCCTATACAATGTTTATTCT
CAGATATAGAGGTTATGTCATTTTATAAAGACTTCATTGATAAGATGGCTTTTATTCATACTAATCCTCCCAATGTTACCCCTTCCATCT
TCCAAGAAGAAAAAAAATGCCTGAATATTCAGAATAGATATTTCTGATTTGAAAATTCTAAAGAATTAAACTGGAAAAGTATTTCATTTA
CTTAGTGCTCTGAATTTACTTTTACAGTTTTCTGCAGTCAGTATCATTAAAATGGTTAAGTTTACATTTGAACTGAAAATATGTATAAAA
TCTAGCAATTCACAAAAATGCCCTAGAAATATAGATTTTAATCACCATTACATAATGACAAACCTTGTTAAATGCTTCCACTTCCAGTGG
CAAATGCCACTAGGGAAAGTAAGTTGCACTCATGTAAGTATCAAACTATATAAAAGGAGGCCTTGTGCATTTCAAGTTTGCAAAGTACCT
GTGTACTTAAAATATGTGTGGAGACCTACTGTACAGTAGTTTTGCCCCTTTAATTGGGGCACATTCATCTTAAATCTTATAGTATTTATC
CACCCAAACCCCAGACTGAGATACTGCTCCCAGGGGCCTAGGTAGCTGCCAGTCCGTGATTTTAATTGCTGTCTTGAAGTTAACAAGTGT

>5281_5281_4_AP3D1-OSBPL1A_AP3D1_chr19_2138617_ENST00000356926_OSBPL1A_chr18_21946930_ENST00000319481_length(amino acids)=984AA_BP=103
MPRRSGRQRGAPRAAGTGPGPPHGAQPRASRGKSPWAAAMALKMVKGSIDRMFDKNLQDLVRGIRNHKEDEAKYISQCIDEIKQELKQDN
IAVKANAVCKLTYAGAEVNVLNDMGDTPLHRAAFTGRKELVMLLLEYNADTTIVNGSGQTAKEVTHAEEIRSMLEAVERTQQRKLEELLL
AAAREGKTTELTALLNRPNPPDVNCSDQLGNTPLHCAAYRAHKQCALKLLRSGADPNLKNKNDQKPLDLAQGAEMKHILVGNKVIYKALK
RYEGPLWKSSRFFGWRLFWVVLEHGVLSWYRKQPDAVHNIYRQGCKHLTQAVCTVKSTDSCLFFIKCFDDTIHGFRVPKNSLQQSREDWL
EAIEEHSAYSTHYCSQDQLTDEEEEDTVSAADLKKSLEKAQSCQQRLDREISNFLKMIKECDMAKEMLPSFLQKVEVVSEASRETCVALT
DCLNLFTKQEGVRNFKLEQEQEKNKILSEALETLATEHHELEQSLVKGSPPASILSEDEFYDALSDSESERSLSRLEAVTARSFEEEGEH
LGSRKHRMSEEKDCGGGDALSNGIKKHRTSLPSPMFSRNDFSIWSILRKCIGMELSKITMPVIFNEPLSFLQRLTEYMEHTYLIHKASSL
SDPVERMQCVAAFAVSAVASQWERTGKPFNPLLGETYELVRDDLGFRLISEQVSHHPPISAFHAEGLNNDFIFHGSIYPKLKFWGKSVEA
EPKGTITLELLEHNEAYTWTNPTCCVHNIIVGKLWIEQYGNVEIINHKTGDKCVLNFKPCGLFGKELHKVEGYIQDKSKKKLCALYGKWT
ECLYSVDPATFDAYKKNDKKNTEEKKNSKQMSTSEELDEMPVPDSESVFIIPGSVLLWRIAPRPPNSAQMYNFTSFAMVLNEVDKDMESV

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Fusion Gene PPI Analysis for AP3D1-OSBPL1A


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
TgeneOSBPL1Achr19:2138617chr18:21946930ENST000003570410161_2370569.0RAB7A
TgeneOSBPL1Achr19:2138617chr18:21946930ENST000003994430141_2370438.0RAB7A


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneOSBPL1Achr19:2138617chr18:21946930ENST000003194812281_23769.0951.0RAB7A


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 AP3D1-OSBPL1A


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 AP3D1-OSBPL1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3D1C0001916Albinism1GENOMICS_ENGLAND
HgeneAP3D1C0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneAP3D1C0027947Neutropenia1GENOMICS_ENGLAND
HgeneAP3D1C0036572Seizures1GENOMICS_ENGLAND
HgeneAP3D1C0078917Albinism, Ocular1ORPHANET
HgeneAP3D1C0079504Hermanski-Pudlak Syndrome1CTD_human;GENOMICS_ENGLAND
HgeneAP3D1C4310746HERMANSKY-PUDLAK SYNDROME 101GENOMICS_ENGLAND