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Fusion Protein:PRPF38A-ABCD3 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: PRPF38A-ABCD3 | FusionPDB ID: 69021 | FusionGDB2.0 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 | ENST ids | ENST00000257181, ENST00000474048, | ENST00000315713, ENST00000370214, ENST00000484213, ENST00000536817, ENST00000394233, ENST00000454898, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * 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 (manual curation of fusion genes in FusionPDB) | PubMed: PRPF38A [Title/Abstract] AND ABCD3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | PRPF38A(52871511)-ABCD3(94924163), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | PRPF38A-ABCD3 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. PRPF38A-ABCD3 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. PRPF38A-ABCD3 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. PRPF38A-ABCD3 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PRPF38A | GO:0000398 | mRNA splicing, via spliceosome | 28781166 |
Tgene | ABCD3 | GO:0007031 | peroxisome organization | 9425230 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 ORF Analysis |
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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 |
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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 Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >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(amino acids)=719AA_BP=97 MANRTVKDAHSIHGTNPQYLVEKIIRTRIYESKYWKEECFGLTAELVVDKAMELRFVGGVYGGNIKPTPFLCLTLKMLQIQPEKDIIVEF IKNEDFNKKSGKPPLQNNEKEGKKERAVVDKVFFSRLIQILKIMVPRTFCKETGYLVLIAVMLVSRTYCDVWMIQNGTLIESGIIGRSRK DFKRYLLNFIAAMPLISLVNNFLKYGLNELKLCFRVRLTKYLYEEYLQAFTYYKMGNLDNRIANPDQLLTQDVEKFCNSVVDLYSNLSKP FLDIVLYIFKLTSAIGAQGPASMMAYLVVSGLFLTRLRRPIGKMTITEQKYEGEYRYVNSRLITNSEEIAFYNGNKREKQTVHSVFRKLV EHLHNFILFRFSMGFIDSIIAKYLATVVGYLVVSRPFLDLSHPRHLKSTHSELLEDYYQSGRMLLRMSQALGRIVLAGREMTRLAGFTAR ITELMQVLKDLNHGKYERTMVSQQEKGIEGVQVIPLIPGAGEIIIADNIIKFDHVPLATPNGDVLIRDLNFEVRSGANVLICGPNGCGKS SLFRVLGELWPLFGGRLTKPERGKLFYVPQRPYMTLGTLRDQVIYPDGREDQKRKGISDLVLKEYLDNVQLGHILEREGGWDSVQDWMDV -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() 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. |
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Hgene | Tgene |
. | ABCD3 |
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | 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}. |
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- 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 | 0 | 9 | 440_659 | 36.666666666666664 | 237.0 | Domain | ABC transporter | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 85_372 | 36.666666666666664 | 237.0 | Domain | ABC transmembrane type-1 | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 440_659 | 36.666666666666664 | 660.0 | Domain | ABC transporter | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 85_372 | 36.666666666666664 | 660.0 | Domain | ABC transmembrane type-1 | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 440_659 | 36.666666666666664 | 550.0 | Domain | ABC transporter | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 85_372 | 36.666666666666664 | 550.0 | Domain | ABC transmembrane type-1 | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 473_480 | 36.666666666666664 | 237.0 | Nucleotide binding | ATP | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 473_480 | 36.666666666666664 | 660.0 | Nucleotide binding | ATP | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 473_480 | 36.666666666666664 | 550.0 | Nucleotide binding | ATP | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 126_146 | 36.666666666666664 | 237.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 224_244 | 36.666666666666664 | 237.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 313_333 | 36.666666666666664 | 237.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 84_104 | 36.666666666666664 | 237.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 126_146 | 36.666666666666664 | 660.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 224_244 | 36.666666666666664 | 660.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 313_333 | 36.666666666666664 | 660.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 84_104 | 36.666666666666664 | 660.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 126_146 | 36.666666666666664 | 550.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 224_244 | 36.666666666666664 | 550.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 313_333 | 36.666666666666664 | 550.0 | Transmembrane | Helical | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 84_104 | 36.666666666666664 | 550.0 | Transmembrane | Helical |
- 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 | + | 2 | 10 | 170_204 | 96.66666666666667 | 313.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | PRPF38A | chr1:52871511 | chr1:94924163 | ENST00000257181 | + | 2 | 10 | 213_291 | 96.66666666666667 | 313.0 | Compositional bias | Note=Arg-rich |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000315713 | 0 | 9 | 1_124 | 36.666666666666664 | 237.0 | Region | Note=Targeting to peroxisomes | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000370214 | 0 | 23 | 1_124 | 36.666666666666664 | 660.0 | Region | Note=Targeting to peroxisomes | |
Tgene | ABCD3 | chr1:52871511 | chr1:94924163 | ENST00000394233 | 0 | 19 | 1_124 | 36.666666666666664 | 550.0 | Region | Note=Targeting to peroxisomes |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
PRPF38A | |
ABCD3 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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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 |
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Related Drugs to PRPF38A-ABCD3 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to PRPF38A-ABCD3 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |