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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:PRPF38A-ABCD3 (FusionGDB2 ID:69021)

Fusion Gene Summary for PRPF38A-ABCD3

Fusion gene summary

Fusion gene information	Fusion gene name: PRPF38A-ABCD3
	Fusion gene ID: 69021
		Hgene	Tgene
	Gene symbol	PRPF38A	ABCD3
	Gene ID	84950	5825
	Gene name	pre-mRNA processing factor 38A	ATP binding cassette subfamily D member 3
	Synonyms	PRP38A\|Prp38	ABC43\|CBAS5\|PMP70\|PXMP1\|ZWS2
	Cytomap	1p32.3	1p21.3
	Type of gene	protein-coding	protein-coding
	Description	pre-mRNA-splicing factor 38APRP38 pre-mRNA processing factor 38 domain containing A	ATP-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))peroxiso
	Modification date	20200313	20200313
	UniProtAcc	.	P28288
	Ensembl transtripts involved in fusion gene	ENST00000257181, ENST00000474048,	ENST00000315713, ENST00000370214, ENST00000484213, ENST00000536817, ENST00000394233, ENST00000454898,
Fusion gene scores	* DoF score	4 X 4 X 3=48	10 X 6 X 6=360
	# samples	4	10
	** MAII score	log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/360*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PRPF38A [Title/Abstract] AND ABCD3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	PRPF38A(52871511)-ABCD3(94924163), # samples:3
Anticipated loss of major functional domain due to fusion event.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	PRPF38A	GO:0000398	mRNA splicing, via spliceosome	28781166
Tgene	ABCD3	GO:0007031	peroxisome organization	9425230

Fusion gene breakpoints across PRPF38A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across ABCD3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	SKCM	TCGA-EB-A551-01A	PRPF38A	chr1	52871511	-	ABCD3	chr1	94924163	+
ChimerDB4	SKCM	TCGA-EB-A551-01A	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+

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Fusion Gene ORF analysis for PRPF38A-ABCD3

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000257181	ENST00000315713	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
5CDS-intron	ENST00000257181	ENST00000370214	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
5CDS-intron	ENST00000257181	ENST00000484213	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
5CDS-intron	ENST00000257181	ENST00000536817	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
In-frame	ENST00000257181	ENST00000394233	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
In-frame	ENST00000257181	ENST00000454898	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
intron-3CDS	ENST00000474048	ENST00000394233	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
intron-3CDS	ENST00000474048	ENST00000454898	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
intron-intron	ENST00000474048	ENST00000315713	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
intron-intron	ENST00000474048	ENST00000370214	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
intron-intron	ENST00000474048	ENST00000484213	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+
intron-intron	ENST00000474048	ENST00000536817	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000257181

PRPF38A

chr1

52871511

ENST00000394233

ABCD3

chr1

94924163

3550

476

186

2015

609

ENST00000257181

PRPF38A

chr1

52871511

ENST00000454898

ABCD3

chr1

94924163

2497

476

186

2345

719

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000257181	ENST00000394233	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+	0.000296422	0.9997036
ENST00000257181	ENST00000454898	PRPF38A	chr1	52871511	+	ABCD3	chr1	94924163	+	0.000564659	0.99943537

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Fusion Genomic Features for PRPF38A-ABCD3

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
PRPF38A	chr1	52871511	+	ABCD3	chr1	94924162	+	1.90E-05	0.99998105
PRPF38A	chr1	52871511	+	ABCD3	chr1	94924162	+	1.90E-05	0.99998105

Distribution 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.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PRPF38A-ABCD3

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:52871511/chr1:94924163)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	ABCD3 P28288
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: Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239). {ECO:0000269\|PubMed:11248239, ECO:0000269\|PubMed:25168382}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

440_659

237.0

Domain

ABC transporter

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

85_372

237.0

Domain

ABC transmembrane type-1

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

440_659

660.0

Domain

ABC transporter

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

85_372

660.0

Domain

ABC transmembrane type-1

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

440_659

550.0

Domain

ABC transporter

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

85_372

550.0

Domain

ABC transmembrane type-1

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

473_480

237.0

Nucleotide binding

ATP

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

473_480

660.0

Nucleotide binding

ATP

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

473_480

550.0

Nucleotide binding

ATP

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

126_146

237.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

224_244

237.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

313_333

237.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

84_104

237.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

126_146

660.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

224_244

660.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

313_333

660.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

84_104

660.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

126_146

550.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

224_244

550.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

313_333

550.0

Transmembrane

Helical

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

84_104

550.0

Transmembrane

Helical

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

PRPF38A

chr1:52871511

chr1:94924163

ENST00000257181

170_204

313.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

PRPF38A

chr1:52871511

chr1:94924163

ENST00000257181

213_291

313.0

Compositional bias

Note=Arg-rich

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000315713

1_124

237.0

Region

Note=Targeting to peroxisomes

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000370214

1_124

660.0

Region

Note=Targeting to peroxisomes

Tgene

ABCD3

chr1:52871511

chr1:94924163

ENST00000394233

1_124

550.0

Region

Note=Targeting to peroxisomes

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Fusion Gene Sequence for PRPF38A-ABCD3

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.

>69021_69021_1_PRPF38A-ABCD3_PRPF38A_chr1_52871511_ENST00000257181_ABCD3_chr1_94924163_ENST00000394233_length(transcript)=3550nt_BP=476nt
ATTGATTCGATAGGCGACGCGGGGAGCGGAAGCCCTTTACACTACGGTGTTTCCGGCTTCAAGATGGTCGCCTAAGCTGTTTAGTGAAAC
TTCTTCCACCTTTCTCCATTCCTCTAGGTGCTTTTTCTGAACCTGGATGTGAGGCATTAAAGGATCCGACGGAAATAGAATTGAAGGCAT
TCTAAAATGGCTAACCGTACAGTGAAGGATGCGCACAGCATCCATGGCACCAACCCTCAATATCTGGTGGAGAAGATCATTCGAACGCGA
ATCTATGAGTCCAAGTACTGGAAAGAGGAGTGCTTTGGACTTACAGCTGAACTTGTAGTCGATAAAGCCATGGAGTTAAGGTTTGTGGGT
GGCGTCTATGGTGGCAACATAAAACCAACACCCTTTCTGTGTTTAACCTTGAAGATGCTTCAAATTCAACCCGAGAAGGATATCATTGTA
GAGTTTATCAAAAATGAAGATTTCAATAAGAAAAGTGGAAAACCACCATTACAGAACAATGAGAAAGAGGGGAAAAAGGAGCGAGCTGTG
GTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATGGTCCCTAGAACATTTTGTAAAGAGACAGGTTACTTGGTACTT
ATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATTCAAAATGGGACACTAATTGAAAGTGGTATCATTGGTCGTAGC
AGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTTATCTCTCTGGTTAATAACTTCTTGAAGTATGGGTTAAAT
GAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAGGAGTATCTTCAAGCTTTCACATATTATAAAATGGGGAATCTG
GACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTAGTCGATCTGTATTCAAATCTTAGT
AAGCCATTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCAATTGGAGCTCAGGGCCCAGCGAGCATGATGGCCTACTTGGTT
GTTTCTGGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATGACAATAACTGAGCAAAAGTATGAAGGAGAATATAGATATGTT
AATTCTCGGCTCATCACAAACAGTTTTACTGCTCGGATTACAGAATTAATGCAAGTACTGAAGGATTTAAATCATGGCAAATATGAGCGC
ACAATGGTCTCACAACAGGAAAAGGGTATTGAAGGAGTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATTATTGCAGATAAC
ATTATAAAGTTTGATCATGTTCCTTTAGCAACGCCAAATGGAGATGTTTTGATCCGAGACCTTAATTTTGAAGTTCGATCTGGGGCTAAT
GTTCTAATTTGTGGTCCAAATGGCTGCGGAAAGAGTTCACTTTTCCGTGTTCTTGGTGAATTATGGCCTCTTTTTGGAGGACGTCTAACT
AAACCTGAAAGAGGAAAATTATTTTATGTTCCTCAGAGACCTTACATGACCCTTGGAACACTTCGAGATCAAGTGATATATCCAGATGGA
CGAGAAGATCAGAAAAGGAAGGGAATTTCTGACCTAGTACTGAAGGAATACTTAGACAATGTCCAGTTGGGTCATATCCTTGAACGTGAA
GGAGGCTGGGACAGTGTTCAGGATTGGATGGACGTACTCAGTGGTGGAGAAAAGCAAAGAATGGCGATGGCAAGATTATTTTATCATAAA
CCCCAGTTTGCCATTTTGGATGAATGCACAAGTGCAGTTAGTGTCGACGTGGAAGGCTACATTTATAGTCATTGTCGAAAGGTTGGCATC
ACTCTCTTCACTGTGTCTCATAGGAAATCTCTTTGGAAACATCATGAGTACTACCTGCATATGGATGGCAGAGGCAACTATGAATTCAAA
CAGATAACAGAAGATACAGTTGAGTTTGGCTCTTAGAGAAATCTGGAGAACTATACCTGCTTCAGTGAAATAATTACAGAATATACTTAG
AAAGGCAAAGTACATTGTAAAATAAAGTTGAGCTTAGTTTTTTTTAAAAAAAAAAACAAAGCAACAAATTAACTAGATACAGAATAATGG
AGAACAAGTTGTTAAAACATTTAATATTATATAGGATATTGCTAATTGTGTATATGTTGGTTTAATTAATAATATGTACTAAGAATGTCC
TTATTCTTGTGGTTAAAAACCTGCCTAAATTAAATTGGGCTTCAATCACTGTAACCTGATTCATCCTGGGATGTAAACCATTCGAAGTCA
GCTAATTGGACTTTTATGGCTCTATCTTTTCCTTCAGTGAAGAACCCTATTTAAAACTGGGTCATCATTTGTCCTGTTCTAGCAAGATAG
TCTTCAGTTTCATTTTCCTGTGCCCTGTGGTAGTTGGAAACAAATCATAATGTATTATTTAAATGTTTAACATCATTGCATAACAGCGTT
TATTATACAGTGGCAGATTTCTTTAGCTGCCACAGTAATACTCATTCCTTGTGTGTGTCTTGGAGTGCATTTGACTCCAGGAAAAGCCAT
TTTGGTTTTCCTTAACTAAATGATAAATGTACCCCTCTCAGTCTGCAGTATTGAGTTGTTTAAAGTATATGTGCAGTCTTGCTTACAAGG
AGGGGTTACCATGTATCACACCTAATCTTCCCAATGTTTGGGATATTAAAACACAAAGTCCTTAACATGCCAGGCTCAAGGTCTTATAAG
AGTTCTAGATTTTTAAGAGAATTAGACAAATTTGTGTGTGTTAGAAGCCCATTCATTAGAAGTGTGGTGGTTATTTGGTATTAAACTCCA
AATGAGCCATAGGAAGGCACTACATGAAATAATGCACTGAGTATGCAATGCTATCACTGTCTTTGACTGTGATTTTATGTTTAAAAAGTA
TGTTCTAAAATTATTATATATACATGGGTGAATTATGTTTCCGAGGCACTGTTTTATCTCTGTGAATCTTGAATAACTTTTTTATATTTG
GGTTATGATGTCAAACGATCCTAAGCGAAGATGATTTCAGTTCATCAAATCATCATTAATGACTTTATGTATTATTTGCACAGGGAGAAT
TGAAACTGAGTATAATCAATAAGCTAGATACGAAATCAGTTTCTCAAACTGAGCTTCAGAAAGGGGCATTTTGTACTCTTGTTTTTGCAT
AACTGGTTTTGTTTTTTTGCAGAATTAACTATAACAATCACTGGCTACCGAAGTAAACTGATGTACTGAATTCCATAATACATAACATTC
AATTTTTACCACTTCTGTTTAGCGAACTTGTATACTTATTTTCTGTTCAGATTAAAAAAAAAAAAAAAAAACTCAGATATCCTATACAAC
CTTTGCTTGTTCTTTTTATTCTGGTATCTAAATACTGAGAAGTTCATTTATAATTCAGCCTTGACTTGAAAACATAGATAGTTTAATCTT

>69021_69021_1_PRPF38A-ABCD3_PRPF38A_chr1_52871511_ENST00000257181_ABCD3_chr1_94924163_ENST00000394233_length(amino acids)=609AA_BP=97
MANRTVKDAHSIHGTNPQYLVEKIIRTRIYESKYWKEECFGLTAELVVDKAMELRFVGGVYGGNIKPTPFLCLTLKMLQIQPEKDIIVEF
IKNEDFNKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRK
DFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKP
FLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSFTARITELMQVLKDLNHGKYERTM
VSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKSSLFRVLGELWPLFGGRLTKP
ERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDLVLKEYLDNVQLGHILEREGGWDSVQDWMDVLSGGEKQRMAMARLFYHKPQ

--------------------------------------------------------------
>69021_69021_2_PRPF38A-ABCD3_PRPF38A_chr1_52871511_ENST00000257181_ABCD3_chr1_94924163_ENST00000454898_length(transcript)=2497nt_BP=476nt
ATTGATTCGATAGGCGACGCGGGGAGCGGAAGCCCTTTACACTACGGTGTTTCCGGCTTCAAGATGGTCGCCTAAGCTGTTTAGTGAAAC
TTCTTCCACCTTTCTCCATTCCTCTAGGTGCTTTTTCTGAACCTGGATGTGAGGCATTAAAGGATCCGACGGAAATAGAATTGAAGGCAT
TCTAAAATGGCTAACCGTACAGTGAAGGATGCGCACAGCATCCATGGCACCAACCCTCAATATCTGGTGGAGAAGATCATTCGAACGCGA
ATCTATGAGTCCAAGTACTGGAAAGAGGAGTGCTTTGGACTTACAGCTGAACTTGTAGTCGATAAAGCCATGGAGTTAAGGTTTGTGGGT
GGCGTCTATGGTGGCAACATAAAACCAACACCCTTTCTGTGTTTAACCTTGAAGATGCTTCAAATTCAACCCGAGAAGGATATCATTGTA
GAGTTTATCAAAAATGAAGATTTCAATAAGAAAAGTGGAAAACCACCATTACAGAACAATGAGAAAGAGGGGAAAAAGGAGCGAGCTGTG
GTGGACAAGGTGTTTTTCTCAAGGCTCATACAGATTCTGAAAATCATGGTCCCTAGAACATTTTGTAAAGAGACAGGTTACTTGGTACTT
ATTGCTGTTATGCTGGTGTCTCGAACATATTGTGATGTTTGGATGATTCAAAATGGGACACTAATTGAAAGTGGTATCATTGGTCGTAGC
AGGAAAGATTTCAAGAGATACTTACTCAACTTCATCGCTGCCATGCCTCTTATCTCTCTGGTTAATAACTTCTTGAAGTATGGGTTAAAT
GAGCTTAAACTGTGCTTCCGAGTAAGGCTCACTAAATACCTCTATGAGGAGTATCTTCAAGCTTTCACATATTATAAAATGGGGAATCTG
GACAACAGAATAGCTAATCCAGACCAGCTGCTTACACAAGATGTAGAAAAATTTTGTAACAGTGTAGTCGATCTGTATTCAAATCTTAGT
AAGCCATTTTTAGACATAGTTTTGTATATCTTTAAGTTAACGAGTGCAATTGGAGCTCAGGGCCCAGCGAGCATGATGGCCTACTTGGTT
GTTTCTGGGCTATTCCTAACTCGACTTCGAAGACCCATTGGTAAGATGACAATAACTGAGCAAAAGTATGAAGGAGAATATAGATATGTT
AATTCTCGGCTCATCACAAACAGTGAAGAAATTGCCTTTTACAATGGGAATAAAAGAGAAAAGCAGACAGTCCACTCAGTCTTCCGAAAA
CTGGTGGAACACCTACATAATTTCATTTTGTTTCGGTTTTCAATGGGCTTCATTGATAGTATTATTGCCAAATACCTTGCCACTGTTGTT
GGTTACCTAGTTGTCAGTCGCCCTTTCTTAGATTTGTCTCATCCTCGACATCTCAAGAGTACACATTCGGAACTTCTAGAGGATTACTAC
CAAAGTGGAAGAATGCTTTTGCGAATGTCTCAAGCTCTGGGTCGAATAGTTTTGGCTGGGCGTGAAATGACTAGATTGGCCGGTTTTACT
GCTCGGATTACAGAATTAATGCAAGTACTGAAGGATTTAAATCATGGCAAATATGAGCGCACAATGGTCTCACAACAGGAAAAGGGTATT
GAAGGAGTACAAGTCATTCCCTTGATACCTGGTGCTGGAGAAATCATTATTGCAGATAACATTATAAAGTTTGATCATGTTCCTTTAGCA
ACGCCAAATGGAGATGTTTTGATCCGAGACCTTAATTTTGAAGTTCGATCTGGGGCTAATGTTCTAATTTGTGGTCCAAATGGCTGCGGA
AAGAGTTCACTTTTCCGTGTTCTTGGTGAATTATGGCCTCTTTTTGGAGGACGTCTAACTAAACCTGAAAGAGGAAAATTATTTTATGTT
CCTCAGAGACCTTACATGACCCTTGGAACACTTCGAGATCAAGTGATATATCCAGATGGACGAGAAGATCAGAAAAGGAAGGGAATTTCT
GACCTAGTACTGAAGGAATACTTAGACAATGTCCAGTTGGGTCATATCCTTGAACGTGAAGGAGGCTGGGACAGTGTTCAGGATTGGATG
GACGTACTCAGTGGTGGAGAAAAGCAAAGAATGGCGATGGCAAGATTATTTTATCATAAACCCCAGTTTGCCATTTTGGATGAATGCACA
AGTGCAGTTAGTGTCGACGTGGAAGGCTACATTTATAGTCATTGTCGAAAGGTTGGCATCACTCTCTTCACTGTGTCTCATAGGAAATCT
CTTTGGAAACATCATGAGTACTACCTGCATATGGATGGCAGAGGCAACTATGAATTCAAACAGATAACAGAAGATACAGTTGAGTTTGGC
TCTTAGAGAAATCTGGAGAACTATACCTGCTTCAGTGAAATAATTACAGAATATACTTAGAAAGGCAAAGTACATTGTAAAATAAAGTTG

>69021_69021_2_PRPF38A-ABCD3_PRPF38A_chr1_52871511_ENST00000257181_ABCD3_chr1_94924163_ENST00000454898_length(amino acids)=719AA_BP=97
MANRTVKDAHSIHGTNPQYLVEKIIRTRIYESKYWKEECFGLTAELVVDKAMELRFVGGVYGGNIKPTPFLCLTLKMLQIQPEKDIIVEF
IKNEDFNKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRK
DFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKP
FLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLV
EHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTAR
ITELMQVLKDLNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKS
SLFRVLGELWPLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDLVLKEYLDNVQLGHILEREGGWDSVQDWMDV

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Fusion Gene PPI Analysis for PRPF38A-ABCD3

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	ABCD3	chr1:52871511	chr1:94924163	ENST00000315713		0	9	1_199	36.666666666666664	237.0	PEX19
Tgene	ABCD3	chr1:52871511	chr1:94924163	ENST00000370214		0	23	1_199	36.666666666666664	660.0	PEX19
Tgene	ABCD3	chr1:52871511	chr1:94924163	ENST00000394233		0	19	1_199	36.666666666666664	550.0	PEX19

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for PRPF38A-ABCD3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for PRPF38A-ABCD3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source