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Fusion gene ID: 26704 |
FusionGeneSummary for PEX14_CLP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PEX14_CLP1 | Fusion gene ID: 26704 | Hgene | Tgene | Gene symbol | PEX14 | CLP1 | Gene ID | 5195 | 81035 |
| Gene name | peroxisomal biogenesis factor 14 | collectin subfamily member 12 | |
| Synonyms | NAPP2|PBD13A|Pex14p|dJ734G22.2 | CLP1|NSR2|SCARA4|SRCL | |
| Cytomap | 1p36.22 | 18p11.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | peroxisomal membrane protein PEX14NF-E2 associated polypeptide 2PTS1 receptor docking proteinperoxin-14peroxisomal membrane anchor protein PEX14peroxisomal membrane anchor protein Pex14p | collectin-12collectin placenta protein 1collectin sub-family member 12hCL-P1nurse cell scavenger receptor 2scavenger receptor class A, member 4scavenger receptor with C-type lectin | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O75381 | Q92989 | |
| Ensembl transtripts involved in fusion gene | ENST00000356607, ENST00000538836, ENST00000492696, | ENST00000529430, ENST00000533682, ENST00000525602, ENST00000302731, | |
| Fusion gene scores | * DoF score | 7 X 5 X 7=245 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PEX14 [Title/Abstract] AND CLP1 [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 | PEX14 | GO:0016561 | protein import into peroxisome matrix, translocation | 21525035 |
| Hgene | PEX14 | GO:0032091 | negative regulation of protein binding | 21976670 |
| Hgene | PEX14 | GO:0034453 | microtubule anchoring | 21525035 |
| Hgene | PEX14 | GO:0036250 | peroxisome transport along microtubule | 21525035 |
| Hgene | PEX14 | GO:0043433 | negative regulation of DNA binding transcription factor activity | 11863372 |
| Hgene | PEX14 | GO:0044721 | protein import into peroxisome matrix, substrate release | 21976670 |
| Hgene | PEX14 | GO:0045892 | negative regulation of transcription, DNA-templated | 11863372 |
| Hgene | PEX14 | GO:0051260 | protein homooligomerization | 12488033 |
| Hgene | PEX14 | GO:0065003 | protein-containing complex assembly | 21525035 |
| Hgene | PEX14 | GO:1901094 | negative regulation of protein homotetramerization | 21976670 |
| Tgene | CLP1 | GO:0006910 | phagocytosis, recognition | 11564734 |
| 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 | GBM | TCGA-06-0190-01A | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| * 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 | ENST00000356607 | ENST00000529430 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5CDS-5UTR | ENST00000356607 | ENST00000533682 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5CDS-intron | ENST00000356607 | ENST00000525602 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5CDS-5UTR | ENST00000356607 | ENST00000302731 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5UTR-3CDS | ENST00000538836 | ENST00000529430 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5UTR-5UTR | ENST00000538836 | ENST00000533682 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5UTR-intron | ENST00000538836 | ENST00000525602 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| 5UTR-5UTR | ENST00000538836 | ENST00000302731 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| intron-3CDS | ENST00000492696 | ENST00000529430 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| intron-5UTR | ENST00000492696 | ENST00000533682 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| intron-intron | ENST00000492696 | ENST00000525602 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
| intron-5UTR | ENST00000492696 | ENST00000302731 | PEX14 | chr1 | 10555378 | + | CLP1 | chr11 | 57426927 | + |
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FusionProtFeatures for PEX14_CLP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PEX14 | CLP1 |
| Peroxisome membrane protein that is an essentialcomponent of the peroxisomal import machinery. Functions as adocking factor for the predominantly cytoplasmic PTS1 receptor(PEX5). Plays a key role for peroxisome movement through a directinteraction with tubulin. {ECO:0000269|PubMed:21525035,ECO:0000269|PubMed:9653144}. | Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-strandedRNA (ssRNA), double-stranded DNA (dsDNA) and double-strandedDNA:RNA hybrids. dsRNA is phosphorylated more efficiently thandsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylatedmore efficiently than the DNA component. Plays a key role in bothtRNA splicing and mRNA 3'-end formation. Component of the tRNAsplicing endonuclease complex: phosphorylates the 5'-terminus ofthe tRNA 3'-exon during tRNA splicing; this phosphorylation eventis a prerequisite for the subsequent ligation of the two exonhalves and the production of a mature tRNA (PubMed:24766809,PubMed:24766810). Its role in tRNA splicing and maturation isrequired for cerebellar development (PubMed:24766809,PubMed:24766810). Component of the pre-mRNA cleavage complex II(CF-II), which seems to be required for mRNA 3'-end formation.Also phosphorylates the 5'-terminus of exogenously introducedshort interfering RNAs (siRNAs), which is a necessary prerequisitefor their incorporation into the RNA-induced silencing complex(RISC). However, endogenous siRNAs and microRNAs (miRNAs) that areproduced by the cleavage of dsRNA precursors by DICER1 alreadycontain a 5'-phosphate group, so this protein may be dispensiblefor normal RNA-mediated gene silencing.{ECO:0000269|PubMed:17495927, ECO:0000269|PubMed:18648070,ECO:0000269|PubMed:24766809, ECO:0000269|PubMed:24766810}. |
| 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 PEX14_CLP1 |
| 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 PEX14_CLP1 |
| 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 |
| PEX14 | MED8, ZHX1, SMARCC2, PEX5, PEX19, PEX13, PEX7, PEX14, ABCD3, AGPS, ATAD1, CNOT1, DHRS4, FAR1, GNPAT, HSD17B4, IMPDH2, MAP2K2, PEX10, PEX12, PEX16, PEX3, PEX2, TTC1, ARHGEF2, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, CNP, DCTN1, DNM1L, DNM2, DYNC1H1, DYNC1I2, DYNC2H1, IQGAP1, IQGAP2, KIF11, LRPPRC, TUBB8, TCP1, TUBA1A, TUBA4A, TUBB, TUBB2A, TUBB2B, TUBB4B, TUBB3, TUBB4A, TUBB6, TUBG2, SLC27A2, NEU2, PRKCSH, AP2M1, PNPLA3, MIER2, ELAVL3, NUP35, VAPA, IKZF5, CROCC, CCL4, HOMER3, FOXJ1, GPR156, TP63, P4HA3, PNPLA2, NME3, ATRIP, SIRT6, RPL28, MTNR1A | CLP1 | TSEN2, TSEN54, TSEN34, TSEN15, NUDT21, CPSF2, CPSF6, CPSF7, HCFC1, CREB3, APP, AMMECR1, HMCN1, PCF11, SNW1, MBLAC1 |
| - 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 PEX14_CLP1 |
| 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 PEX14_CLP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PEX14 | C1832200 | Peroxisome biogenesis disorders | 3 | CTD_human |
| Hgene | PEX14 | C0043459 | Zellweger Syndrome | 2 | CTD_human;ORPHANET |
| Hgene | PEX14 | C0029927 | Ovarian Cysts | 1 | CTD_human |
| Tgene | CLP1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CLP1 | C4014347 | PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | 1 | ORPHANET;UNIPROT |
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