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Fusion gene ID: 19039 |
FusionGeneSummary for KLHL2_CPE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KLHL2_CPE | Fusion gene ID: 19039 | Hgene | Tgene | Gene symbol | KLHL2 | CPE | Gene ID | 11275 | 1363 |
| Gene name | kelch like family member 2 | carboxypeptidase E | |
| Synonyms | ABP-KELCH|MAV|MAYVEN | CPH | |
| Cytomap | 4q32.3 | 4q32.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kelch-like protein 2actin-binding protein Mayvenkelch-like 2, Mayven | carboxypeptidase Ecarboxypeptidase Hcobalt-stimulated chromaffin granule carboxypeptidaseenkephalin convertaseinsulin granule-associated carboxypeptidaseprohormone-processing carboxypeptidase | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | O95198 | P16870 | |
| Ensembl transtripts involved in fusion gene | ENST00000226725, ENST00000514860, ENST00000538127, ENST00000421009, ENST00000506761, ENST00000509028, | ENST00000402744, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 6 X 5 X 5=150 |
| # samples | 4 | 6 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KLHL2 [Title/Abstract] AND CPE [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 | CPE | GO:0016055 | Wnt signaling pathway | 22824791 |
| Tgene | CPE | GO:0072657 | protein localization to membrane | 19166515 |
| 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 | PRAD | TCGA-G9-7510-01A | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
| * 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 | ENST00000226725 | ENST00000402744 | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
| Frame-shift | ENST00000514860 | ENST00000402744 | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
| 5UTR-3CDS | ENST00000538127 | ENST00000402744 | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
| 5UTR-3CDS | ENST00000421009 | ENST00000402744 | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
| intron-3CDS | ENST00000506761 | ENST00000402744 | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
| intron-3CDS | ENST00000509028 | ENST00000402744 | KLHL2 | chr4 | 166141211 | + | CPE | chr4 | 166385542 | + |
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FusionProtFeatures for KLHL2_CPE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KLHL2 | CPE |
| Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex that mediates the ubiquitinationof target proteins, such as NPTXR, leading most often to theirproteasomal degradation (By similarity). Responsible fordegradative ubiquitination of the WNK kinases WNK1, WNK3 and WNK4.Plays a role in the reorganization of the actin cytoskeleton.Promotes growth of cell projections in oligodendrocyte precursors.{ECO:0000250, ECO:0000269|PubMed:15715669,ECO:0000269|PubMed:23838290}. | Removes residual C-terminal Arg or Lys remaining afterinitial endoprotease cleavage during prohormone processing.Processes proinsulin. |
| 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 KLHL2_CPE |
| 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 KLHL2_CPE |
| 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 |
| KLHL2 | KLHL12, CUL3, KEAP1, NACC1, KLHL2, ACTC1, WNK1, WNK2, WNK3, WNK4, UBE2D1, CLK2, BCAM, SDCBP, UBE2C, TNPO2, TXNDC12, TMA16, CCDC43, ZNF114, ZFP36, TSPAN5, DCTN2, KLHL3, DCTN1, UCK1, KLHL17, TRIM47, PIK3C2B, SCYL1, TRIM9, DNAJC13, XIAP, USP28, FAM160B1, SIPA1L1, FBXL17, TRIM8, ACTR10, CUL7, FBXW8, UPRT, DCTN6, FBXO33, ACIN1, DCTN5, DCTN4, UCKL1, ACTR1B, PHLDB3, ARHGEF7, GIT2, CCDC8, DCTN3, GPRASP2, DIABLO, ACTR1A, EPDR1, TCF25, CASK, YARS2, RRBP1, SAMD1, OBSL1, IMPDH1, APPL1, RNPS1 | CPE | ROBO2, CHD3, GTF3C1, POLA2, POLDIP2, RPA1, UTP14A, MED31, LRIF1, PRKAA1, NUFIP1, SERPINB11, SIAE, RNASE13, PSG8, SLAMF1, SCGB1D1, PSG1 |
| - 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 KLHL2_CPE |
| 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 |
| Tgene | CPE | P16870 | DB00071 | Insulin Pork | Carboxypeptidase E | biotech | approved |
| Tgene | CPE | P16870 | DB00030 | Insulin Human | Carboxypeptidase E | biotech | approved|investigational |
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RelatedDiseases for KLHL2_CPE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CPE | C0028754 | Obesity | 2 | CTD_human |
| Tgene | CPE | C0014130 | Endocrine System Diseases | 1 | CTD_human |
| Tgene | CPE | C0021655 | Insulin Resistance | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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