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Fusion gene ID: 26718 |
FusionGeneSummary for PEX26_RTCB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PEX26_RTCB | Fusion gene ID: 26718 | Hgene | Tgene | Gene symbol | PEX26 | RTCB | Gene ID | 55670 | 51493 |
| Gene name | peroxisomal biogenesis factor 26 | RNA 2',3'-cyclic phosphate and 5'-OH ligase | |
| Synonyms | PBD7A|PBD7B|PEX26M1T|Pex26pM1T | C22orf28|DJ149A16.6|FAAP|HSPC117 | |
| Cytomap | 22q11.21 | 22q12.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | peroxisome assembly protein 26peroxin-26peroxisome biogenesis disorder, complementation group 8peroxisome biogenesis disorder, complementation group Aperoxisome biogenesis factor 26 | tRNA-splicing ligase RtcB homologankyrin repeat domain 54focal adhesion-associated protein | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q7Z412 | Q9Y3I0 | |
| Ensembl transtripts involved in fusion gene | ENST00000329627, ENST00000399744, ENST00000428061, | ENST00000216038, ENST00000451746, ENST00000476619, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 3=48 |
| # samples | 2 | 5 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: PEX26 [Title/Abstract] AND RTCB [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 |
| Hgene | PEX26 | GO:0016558 | protein import into peroxisome matrix | 16257970 |
| Tgene | RTCB | GO:0006388 | tRNA splicing, via endonucleolytic cleavage and ligation | 21311021|24870230 |
| 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 | SKCM | TCGA-D9-A1JX-06A | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| * 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 |
| Frame-shift | ENST00000329627 | ENST00000216038 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| 5CDS-3UTR | ENST00000329627 | ENST00000451746 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| 5CDS-intron | ENST00000329627 | ENST00000476619 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| Frame-shift | ENST00000399744 | ENST00000216038 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| 5CDS-3UTR | ENST00000399744 | ENST00000451746 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| 5CDS-intron | ENST00000399744 | ENST00000476619 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| intron-3CDS | ENST00000428061 | ENST00000216038 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| intron-3UTR | ENST00000428061 | ENST00000451746 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
| intron-intron | ENST00000428061 | ENST00000476619 | PEX26 | chr22 | 18568024 | + | RTCB | chr22 | 32784086 | - |
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FusionProtFeatures for PEX26_RTCB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PEX26 | RTCB |
| Catalytic subunit of the tRNA-splicing ligase complexthat acts by directly joining spliced tRNA halves to mature-sizedtRNAs by incorporating the precursor-derived splice junctionphosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substratespecificity, and may function toward other RNAs.{ECO:0000269|PubMed:21311021, ECO:0000269|PubMed:24870230}. |
| 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 |
| - 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 |
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FusionGeneSequence for PEX26_RTCB |
| 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 PEX26_RTCB |
| 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 |
| PEX26 | SUFU, PEX1, PEX6, ELAVL1, PEX19 | RTCB | TP73, SIRT7, CUL3, CUL4B, CUL5, CUL2, CUL1, COPS5, CAND1, DDX1, C14orf166, FAM98B, C2orf49, CA9, FN1, AICDA, ABCF1, YBX3, DHX9, EIF2B2, EIF2B3, FLII, KRT18, LRRFIP1, HNRNPM, IGF2BP3, ILF2, MRE11A, NMT1, POLR1C, PRKDC, QARS, RFC2, RFC4, RPL26L1, RPL27, FUS, CUL7, OBSL1, CCDC8, BMI1, ESR1, RPS6KB2, HNRNPA1, FBXW11, UNK, CCDC22, DPH2, HNRNPH1, KIAA0368, MTMR12, NDRG1, PPP1R8, RAVER1, DNM2, EEF1A1, PAFAH1B2, SEPHS1, UFD1L, WDR12, NTRK1, APPL1, CRK, XPO1, HNRNPU, NPM1, RPL10, MATR3, SNW1, CDC5L, NANOG, POU5F1, CRBN, RFX3, HDAC1, XYLT2, MTA2, PTOV1, CYLD, COX15, DLD, HSD17B10, SOAT1, VDAC1, TRIM25, G3BP1 |
| - 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 PEX26_RTCB |
| 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 PEX26_RTCB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PEX26 | C3553951 | PEROXISOME BIOGENESIS DISORDER 7B | 3 | UNIPROT |
| Hgene | PEX26 | C3888385 | PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) | 3 | UNIPROT |
| Hgene | PEX26 | C0043459 | Zellweger Syndrome | 2 | CTD_human;ORPHANET |
| Hgene | PEX26 | C0162309 | Adrenoleukodystrophy | 1 | CTD_human |
| Hgene | PEX26 | C0282527 | Infantile Refsum Disease (disorder) | 1 | CTD_human;ORPHANET |
| Hgene | PEX26 | C1832200 | Peroxisome biogenesis disorders | 1 | CTD_human |
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