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Fusion gene ID: 26722 |
FusionGeneSummary for PEX3_SLC35F1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PEX3_SLC35F1 | Fusion gene ID: 26722 | Hgene | Tgene | Gene symbol | PEX3 | SLC35F1 | Gene ID | 8504 | 222553 |
Gene name | peroxisomal biogenesis factor 3 | solute carrier family 35 member F1 | |
Synonyms | PBD10A|PBD10B|TRG18 | C6orf169|dJ230I3.1 | |
Cytomap | 6q24.2 | 6q22.2-q22.31 | |
Type of gene | protein-coding | protein-coding | |
Description | peroxisomal biogenesis factor 3peroxin-3peroxisomal assembly protein PEX3transformation-related protein 18 | solute carrier family 35 member F1 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | P56589 | Q5T1Q4 | |
Ensembl transtripts involved in fusion gene | ENST00000367591, | ENST00000360388, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 5 X 5=150 |
# samples | 2 | 6 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: PEX3 [Title/Abstract] AND SLC35F1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-3B-A9HS-01A | PEX3 | chr6 | 143795993 | + | SLC35F1 | chr6 | 118635191 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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 |
In-frame | ENST00000367591 | ENST00000360388 | PEX3 | chr6 | 143795993 | + | SLC35F1 | chr6 | 118635191 | + |
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FusionProtFeatures for PEX3_SLC35F1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PEX3 | SLC35F1 |
Involved in peroxisome biosynthesis and integrity.Assembles membrane vesicles before the matrix proteins aretranslocated. As a docking factor for PEX19, is necessary for theimport of peroxisomal membrane proteins in the peroxisomes.{ECO:0000269|PubMed:10848631, ECO:0000269|PubMed:15007061}. | Putative solute transporter. {ECO:0000305}. |
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 . * 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 |
Hgene | PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 1_45 | 272 | 374 | Region | Note=Targeting to peroxisomes |
Hgene | PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 1_15 | 272 | 374 | Topological domain | Cytoplasmic |
Hgene | PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 37_116 | 272 | 374 | Topological domain | Peroxisomal |
Hgene | PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 117_140 | 272 | 374 | Transmembrane | Helical |
Hgene | PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 16_36 | 272 | 374 | Transmembrane | Helical |
Tgene | >SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 335_355 | 334 | 409 | 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 | >PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 141_373 | 272 | 374 | Topological domain | Cytoplasmic |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 129_147 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 158_178 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 186_206 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 221_241 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 247_267 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 284_304 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 311_331 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 60_80 | 334 | 409 | Transmembrane | Helical |
Tgene | SLC35F1 | chr6:143795993 | chr6:118635191 | ENST00000360388 | + | 6 | 8 | 94_114 | 334 | 409 | Transmembrane | Helical |
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FusionGeneSequence for PEX3_SLC35F1 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_PEX3_ENST00000367591_chr6_143795993_+_SLC35F1_ENST00000360388_chr6_118635191_+_347aa MLRSVWNFLKRHKKKCIFLGTVLGGVYILGKYGQKKIREIQEREAAEYIAQARRQYHFESNQRTCNMTVLSMLPTLREALMQQLNSESLT ALLKNRPSNKLEIWEDLKIISFTRSTVAVYSTCMLVVLLRVQLNIIGGYIYLDNAAVGKNGTTILAPPDVQQQYLSSIQHLLGDGLTELI TVIKQAVQKVLGSVSLKHSLSLLDLEQKLKEIRNLVEQHKSSSWINKDGSKPLLCHYMMPDEETPLAVQACGLSPRDITTIKLLNETRDM |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_PEX3_ENST00000367591_chr6_143795993_+_SLC35F1_ENST00000360388_chr6_118635191_+_1043nt ATGCTGAGGTCTGTATGGAATTTTCTGAAACGCCACAAAAAGAAATGCATCTTCCTGGGCACGGTCCTTGGAGGAGTATATATTCTGGGG AAATATGGACAGAAGAAAATCAGAGAAATACAGGAAAGGGAGGCTGCAGAATACATTGCCCAAGCACGACGACAATATCATTTTGAAAGT AACCAGAGGACTTGCAATATGACAGTGCTGTCCATGCTTCCAACACTGAGAGAGGCCTTAATGCAGCAACTGAATTCCGAGAGCCTCACA GCTCTGCTAAAAAACAGGCCTTCAAACAAGCTAGAAATATGGGAGGATCTGAAGATAATAAGTTTCACAAGAAGTACTGTGGCTGTATAC AGTACCTGTATGCTGGTTGTTCTTTTGCGGGTCCAGTTAAACATAATTGGTGGATATATTTACCTGGATAATGCAGCAGTTGGCAAAAAT GGCACTACAATTCTTGCTCCCCCAGATGTCCAACAGCAGTATTTATCAAGTATTCAGCACCTACTTGGAGATGGCCTGACAGAATTGATC ACTGTCATTAAACAAGCTGTGCAGAAGGTTTTAGGAAGTGTTTCTCTTAAACATTCTTTGTCCCTTTTGGACTTGGAGCAAAAACTAAAA GAAATCAGAAATCTCGTTGAGCAGCATAAGTCTTCTTCTTGGATTAATAAAGATGGATCCAAACCTTTATTATGCCATTATATGATGCCA GATGAAGAAACTCCATTAGCAGTGCAGGCCTGTGGACTTTCTCCTCGAGACATTACCACTATTAAACTTCTCAATGAAACTAGAGACATG TTGGAAAGTTTTCAGGACTTTATCTCCTGTCTTTCTTCACCATCCTCATTGGGCTGGTGCTCTACTCCTCCACCTCCACCTACATAGCCC AGGACCCCCGAGTGTATAAGCAGTTCCGCAATCCTTCAGGACCTGTTGTGGACTTACCGACCACAGCTCAGGTGGAACCCTCAGTCACCT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_PEX3_ENST00000367591_chr6_143795993_+_SLC35F1_ENST00000360388_chr6_118635191_+_4530nt GAAACAGTTTCCTGGTGAAGCAGTCCCTCACCCCTAGTCAGCCCACACCCCTAGGGCCTAAAGATGCTGAGGTCTGTATGGAATTTTCTG AAACGCCACAAAAAGAAATGCATCTTCCTGGGCACGGTCCTTGGAGGAGTATATATTCTGGGGAAATATGGACAGAAGAAAATCAGAGAA ATACAGGAAAGGGAGGCTGCAGAATACATTGCCCAAGCACGACGACAATATCATTTTGAAAGTAACCAGAGGACTTGCAATATGACAGTG CTGTCCATGCTTCCAACACTGAGAGAGGCCTTAATGCAGCAACTGAATTCCGAGAGCCTCACAGCTCTGCTAAAAAACAGGCCTTCAAAC AAGCTAGAAATATGGGAGGATCTGAAGATAATAAGTTTCACAAGAAGTACTGTGGCTGTATACAGTACCTGTATGCTGGTTGTTCTTTTG CGGGTCCAGTTAAACATAATTGGTGGATATATTTACCTGGATAATGCAGCAGTTGGCAAAAATGGCACTACAATTCTTGCTCCCCCAGAT GTCCAACAGCAGTATTTATCAAGTATTCAGCACCTACTTGGAGATGGCCTGACAGAATTGATCACTGTCATTAAACAAGCTGTGCAGAAG GTTTTAGGAAGTGTTTCTCTTAAACATTCTTTGTCCCTTTTGGACTTGGAGCAAAAACTAAAAGAAATCAGAAATCTCGTTGAGCAGCAT AAGTCTTCTTCTTGGATTAATAAAGATGGATCCAAACCTTTATTATGCCATTATATGATGCCAGATGAAGAAACTCCATTAGCAGTGCAG GCCTGTGGACTTTCTCCTCGAGACATTACCACTATTAAACTTCTCAATGAAACTAGAGACATGTTGGAAAGTTTTCAGGACTTTATCTCC TGTCTTTCTTCACCATCCTCATTGGGCTGGTGCTCTACTCCTCCACCTCCACCTACATAGCCCAGGACCCCCGAGTGTATAAGCAGTTCC GCAATCCTTCAGGACCTGTTGTGGACTTACCGACCACAGCTCAGGTGGAACCCTCAGTCACCTACACCAGCCTGGGCCAGGAGACCGAAG AGGAGCCTCATGTTCGTGTGGCCTAGGGTGAGGCCCGCCCTGCCAACTGAGGCCAACTCATTGGCCATGTTTTTGCCCATCATCTCTGTA TTGTACATAGAGAAAGGTATTTACTAGGTGCAGTTTACACAGGTGGACTGCAAGGTAGCAAATCCTCCAAAAGCTTGTGAAAGGAACAAG CTCAACATCACTGGAGACACAGGCTCTAATCCACCTGACTTGGAAGGATGCCTAGCTAACGTGTATCCTGATCACAACTCCCCTGCATTC ATTACTGTGAAAATTTTTGAATCAAAAGCAAGTATTATTGTTATTATGATTTGTATTATTATTATTGCTGTTACTGTTATTACACCAACT TTCAGGAGGATGTTTTGTACTCCTGATGGAAACTATTGCCAGACCCACATGTAGTCAACATAAACCCCACTTTTCTATGGCAATTCACTT TTTAAGAGTCATACTTTATTTTTTTGCACAGACTATATGAGTGATGCATGCCACAGGAGCTCCACCCCTGAGAAGTTTCCTTTTCCTAGG GACCTGGTGGTTAATGGTTTCCTCTGTTACCTGTTGGATTGCCTGCTCAATAAGTATTTTGTGCTGTGACCTTTGTGGGGAGGGGCAACT GACCATATACTTCTCTATTCTAGGAATAGATATAAAAGAAACATTTTAGCCTTTTTATATTTCGATCTCTGATTACTCCAGGCCATTGCC TTTCTGTTGTGCCACGTGATTCTGCTAATCAAGTCCCTGTAATAACAGGATAAGGACTGTTCCATTACTGTGGCTTTTGGGAGCCCCCAG AAATAATATCATTTGTGTTTAGGACAATATATAATTATAAAATCTTTCTGCTCCTCCCTGTAGCCTCTCTTCAAAAACTATCTTTTATTT TTTTTCCAGATTTCCTTAGTGATAATATGGAAATTAATCAAGGCACTGGAAAAAGCCATGGTCCTCTGCCCTTTTAATTCTGTGACACCT TTTTAAAAATACACCAGCATGGAAATTACCTTTATTGTGGAAAATCATTGGTTGTGCCACCTCCTAACAAAGTCAAGGTGCTGATGTGGA GCAGTCTTTGAAAATGGCTTAATTGATTTGGCCACTTTGCAGTGGTAACAATGTCATCATTGAAAAAGTCTGGCATTTTGGTCATATTTG GCATCCATTCAATAACAGATATATTGACACGACATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGC TGGAGTGCGGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCGGGATTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCACCTGCCACGACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACACGACATTCTTATGG ACCCAGAGAATACTGCAGGATCCTGATAAGACCTTGAGTGATATGTCACTAGTCTAATCTGTTGCCCTTAAAATAGCCCTTTTTTCAAAC ACAGGAAATTAAGAAACACCACAGACCTCTATTATTTAGAATAGATTCTATGTGTCAGTATGTGATGTACTCTTTTAGTTTGACTGACTT CAATACCATTCAAAAAGATCCTCAATGGAGTTACAGGGTTTATAGGGGAAAAATACATGTTTATGAGACATTGGGCAATTCAAATCAACA TGTGTTACATAAGCAAGCAAAGCAAAACACCAGTGGGGTCTCTGGAAAGTAAAAGGACAGACTACAGTAGAAGGACTGATCCCAGAGTGC CTGTACAAGGCCTAAATCTGGCAGGCAAAAGCATCCCACACTGTCTGTCAGCACCCACATGGCCTTTTTGCCTGCCTTCTATAACGGGTA AGTGGACCTACCCTTGGAGATAGAGAAGAAAAATTATCTTCTCTGATATTCGGATGTAATGGTCATCTCAGTTCAGCCCCCTAGGAAACA TGTTTTATTTTCCATGGGGAAAATATCAGCGTTAAAGCTCTATCAAATCAAAACAACTTTGCCAACATCTTCTCTCTGCTACCTTTTAAA CCAATTAAATACCTTTCTCTGAATATTTTGTCCATTCAGATCCGAAGACCTTTAAAGACTGTGGTTTTATTTTTGTGTTTACATTCCTTT GGTTTGAATAATTTGCTTGATTTATTGCATTTTTAGTATTTATTTTAAGCCAGATGTTTTCATCTTTGATTCATTTTTATGACATTAATT TGTAGACACTTAGTAAAGTCTTATGAGAAGCAAGTGGATGAAATTATCTCCAAGTCCACTCAGTAGACTGGAGTTTTTTAAAAATATAAA TTTCCAAAAAGTTTGCAATCAACAGATGGCTAAAGGTTGCCATCTGAATTATTTTATAGGATATTTTAATTGACTCCATTGTATGGAAAC CAAGTGTGAATGTTAAGATGAATTTGCCGTATACCCTTTATCATTCGGTGTCCTTGTACTCAGACTTTCATGTCCCTGGGTGACCTCAAT GTGTTGGTTTGTCTCCATTTAGAAAGGTTGATAATATATTGAATTGTTCAAGATCAGGAGTTCCAGACTGACCCTCCAGGAAAAAAAAAA TCGCAAAGAACAAATTCTTTTTCTGTGTAAAAAACACTGATCCTTTGGGAATGGGGCGGGAAATGGGAGTAGGACAACATTAACTTTAGC TGTTTTAGTTTCTGAGATTTCATAACCTCAGTAGACACCAGCAAAATTTTCAGTTTCTAACTCCACCACCAATCTCTCCTCAATGAATAA GACTTTAGCAATTTATATAGAATTTGATCAGGTAAGAGCGAACCACAATTCTCCTGAACCCTGCTAGAGATTAAGTGGTGGTTCTCACTT CCTCAATGAAAACTTGCACTGGGGACAGCGCTTGCCTTGGTCAGACCTTCCCACATCTACATACTCTCAAATACATGACCAGGTGATCAA GCAATGGAAAAATTTGCACCACCGTGTCCCATGAAATTGTTTCAATGTTTAGTTTAGATATTGCTAACTTGTGCTATTAACCTTTTGACA AGCGTGTAGTATTGTTTGTTTTGGGTTTCTTTTTGATTTATAACTATTTAGTAGTCCCCAGCTAGCTACCAGTACAGATTTTACCCCATG GGTAGGATTCTATTGTTAAGCCACATAACAAAGCACACTAATTCTGACAACACTGCAAATGGAAAATACGAACCAAAAAAAAGTTACACC GATAAGTTCAACAAACTGTCCATTTTTGATATTTGCATGCTCCCCTATGGACTGGCTGTGGCAATGTAATGCCTGTATAATGTTTTCAAA |
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FusionGenePPI for PEX3_SLC35F1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PEX3 | PEX19, ABCD3, ABCD1, CHCHD4, HNRNPF, DHX15, HNRNPR, PEX14 | SLC35F1 | VIPR2, HTR2C, ATP5B, NPY2R |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Hgene | PEX3 | chr6:143795993 | chr6:118635191 | ENST00000367591 | + | 9 | 12 | 120_136 | 272 | 374 | PEX19 |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- 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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RelatedDrugs for PEX3_SLC35F1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PEX3_SLC35F1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PEX3 | C0043459 | Zellweger Syndrome | 1 | CTD_human;ORPHANET |
Hgene | PEX3 | C1832200 | Peroxisome biogenesis disorders | 1 | CTD_human |
Hgene | PEX3 | C3553999 | PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) | 1 | UNIPROT |