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Fusion gene ID: 26730 |
FusionGeneSummary for PEX6_PPP2R5D |
Fusion gene summary |
Fusion gene information | Fusion gene name: PEX6_PPP2R5D | Fusion gene ID: 26730 | Hgene | Tgene | Gene symbol | PEX6 | PPP2R5D | Gene ID | 5190 | 5528 |
Gene name | peroxisomal biogenesis factor 6 | protein phosphatase 2 regulatory subunit B'delta | |
Synonyms | HMLR2|PAF-2|PAF2|PBD4A|PDB4B|PXAAA1 | B56D|B56delta|MRD35 | |
Cytomap | 6p21.1 | 6p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | peroxisome biogenesis factor 6peroxin-6peroxisomal AAA-type ATPase 1peroxisomal-type ATPase 1peroxisome assembly factor 2 | serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoformPP2A, B subunit, B' delta isoformPP2A, B subunit, B56 delta isoformPP2A, B subunit, PR61 delta isoformPP2A, B subunit, R5 delta isoformSerine/threonine protein phosphatase | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q13608 | Q14738 | |
Ensembl transtripts involved in fusion gene | ENST00000304611, ENST00000244546, | ENST00000485511, ENST00000394110, ENST00000472118, ENST00000461010, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 2 X 2=16 |
# samples | 2 | 3 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(3/16*10)=0.906890595608518 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: PEX6 [Title/Abstract] AND PPP2R5D [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 |
Tgene | PPP2R5D | GO:0006470 | protein dephosphorylation | 24157919 |
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 | LD | OV | TCGA-13-1505-01A | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
* 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 | ENST00000304611 | ENST00000485511 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
In-frame | ENST00000304611 | ENST00000394110 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
In-frame | ENST00000304611 | ENST00000472118 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
5CDS-intron | ENST00000304611 | ENST00000461010 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
In-frame | ENST00000244546 | ENST00000485511 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
In-frame | ENST00000244546 | ENST00000394110 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
In-frame | ENST00000244546 | ENST00000472118 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
5CDS-intron | ENST00000244546 | ENST00000461010 | PEX6 | chr6 | 42946007 | - | PPP2R5D | chr6 | 42957349 | + |
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FusionProtFeatures for PEX6_PPP2R5D |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PEX6 | PPP2R5D |
Involved in peroxisome biosynthesis. Required forstability of the PTS1 receptor. Anchored by PEX26 to peroxisomemembranes, possibly to form heteromeric AAA ATPase complexesrequired for the import of proteins into peroxisomes. | The B regulatory subunit might modulate substrateselectivity and catalytic activity, and also might direct thelocalization of the catalytic enzyme to a particular subcellularcompartment. |
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 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 523_530 | 9 | 571 | Motif | SH3-binding%3B class I |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 548_565 | 9 | 571 | Motif | Nuclear localization signal |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 523_530 | -9 | 497 | Motif | SH3-binding%3B class I |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 548_565 | -9 | 497 | Motif | Nuclear localization signal |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 523_530 | 9 | 603 | Motif | SH3-binding%3B class I |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 548_565 | 9 | 603 | Motif | Nuclear localization signal |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 37_52 | 9 | 571 | Region | Note=8 X 2 AA approximate tandem repeats of Q-P |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 37_52 | -9 | 497 | Region | Note=8 X 2 AA approximate tandem repeats of Q-P |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 37_52 | 9 | 603 | Region | Note=8 X 2 AA approximate tandem repeats of Q-P |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 37_38 | 9 | 571 | Repeat | Note=1 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 39_40 | 9 | 571 | Repeat | Note=2 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 41_42 | 9 | 571 | Repeat | Note=3 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 43_44 | 9 | 571 | Repeat | Note=4 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 45_46 | 9 | 571 | Repeat | Note=5 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 47_48 | 9 | 571 | Repeat | Note=6%3B approximate |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 49_50 | 9 | 571 | Repeat | Note=7%3B approximate |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000394110 | + | 0 | 16 | 51_52 | 9 | 571 | Repeat | Note=8 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 37_38 | -9 | 497 | Repeat | Note=1 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 39_40 | -9 | 497 | Repeat | Note=2 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 41_42 | -9 | 497 | Repeat | Note=3 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 43_44 | -9 | 497 | Repeat | Note=4 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 45_46 | -9 | 497 | Repeat | Note=5 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 47_48 | -9 | 497 | Repeat | Note=6%3B approximate |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 49_50 | -9 | 497 | Repeat | Note=7%3B approximate |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000461010 | + | 0 | 14 | 51_52 | -9 | 497 | Repeat | Note=8 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 37_38 | 9 | 603 | Repeat | Note=1 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 39_40 | 9 | 603 | Repeat | Note=2 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 41_42 | 9 | 603 | Repeat | Note=3 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 43_44 | 9 | 603 | Repeat | Note=4 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 45_46 | 9 | 603 | Repeat | Note=5 |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 47_48 | 9 | 603 | Repeat | Note=6%3B approximate |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 49_50 | 9 | 603 | Repeat | Note=7%3B approximate |
Tgene | >PPP2R5D | chr6:42946007 | chr6:42957349 | ENST00000485511 | + | 0 | 16 | 51_52 | 9 | 603 | Repeat | Note=8 |
- 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 | >PEX6 | chr6:42946007 | chr6:42957349 | ENST00000304611 | - | 1 | 17 | 470_477 | 294 | 981 | Nucleotide binding | ATP |
Hgene | >PEX6 | chr6:42946007 | chr6:42957349 | ENST00000304611 | - | 1 | 17 | 744_751 | 294 | 981 | Nucleotide binding | ATP |
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FusionGeneSequence for PEX6_PPP2R5D |
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. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for PEX6_PPP2R5D |
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 |
PEX6 | PEX26, PEX1, CERS2, RPS14, RPL27A, TMEM25, PSMC3, THBS3, DKKL1, ENSA, KBTBD4, IMPDH1, CD79A, OLFM2 | PPP2R5D | HAND2, PPFIA1, HAND1, ARL2, PPP4C, PPP2CA, PPP2R1A, PPP2CB, PPP2R1B, CHEK2, GSK3B, SOX2, YWHAB, ARPC2, NIF3L1, ARPC1B, DHPS, FEN1, GOPC, HECTD1, LPP, PRDX1, PRDX2, RANGAP1, RPA2, SH3GLB1, TPD52L2, USHBP1, FSD2, CLOCK, CSNK2B, DEC1, RORC, CRY2, CRY1, CSNK1E, BCAT1, DNASE2B, PPME1, FAM43A, WNT3A, PON2, CCNG1, DNAAF5, LARS, PFDN5, PPP2R2A, PPP2R2D, PPP2R5A, TTC27, PTPRF, RRM2, XPO6, NTRK1, CTR9, CCHCR1, CCDC61, DUSP19, PRR14, CCNG2, CELA3A, RAPGEF5, USP47, FBXL3, YBEY, BTBD6, RPS27, GPR37, PDDC1, BMP7, PPP1CA |
- 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 |
- 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 PEX6_PPP2R5D |
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 PEX6_PPP2R5D |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PEX6 | C3553936 | PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) | 4 | UNIPROT |
Hgene | PEX6 | C4225267 | HEIMLER SYNDROME 2 | 3 | UNIPROT |
Hgene | PEX6 | C0043459 | Zellweger Syndrome | 2 | CTD_human;ORPHANET |
Hgene | PEX6 | C1832200 | Peroxisome biogenesis disorders | 2 | CTD_human |
Hgene | PEX6 | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | PPP2R5D | C4225354 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 | 1 | ORPHANET;UNIPROT |