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Fusion gene ID: 19019 |
FusionGeneSummary for KLHL22_DENND5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KLHL22_DENND5A | Fusion gene ID: 19019 | Hgene | Tgene | Gene symbol | KLHL22 | DENND5A | Gene ID | 84861 | 23258 |
| Gene name | kelch like family member 22 | DENN domain containing 5A | |
| Synonyms | KELCHL | EIEE49|RAB6IP1 | |
| Cytomap | 22q11.21 | 11p15.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | kelch-like protein 22kelch-like 22 | DENN domain-containing protein 5ADENN/MADD domain containing 5ARAB6 interacting protein 1rab6-interacting protein 1 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q53GT1 | Q6IQ26 | |
| Ensembl transtripts involved in fusion gene | ENST00000328879, ENST00000440659, ENST00000470335, | ENST00000328194, ENST00000530044, ENST00000527700, ENST00000526523, | |
| Fusion gene scores | * DoF score | 9 X 6 X 6=324 | 9 X 10 X 5=450 |
| # samples | 9 | 10 | |
| ** MAII score | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/450*10)=-2.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KLHL22 [Title/Abstract] AND DENND5A [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 | KLHL22 | GO:0006513 | protein monoubiquitination | 23455478 |
| 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 | LUSC | TCGA-NK-A5CX-01A | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| TCGA | LD | LUSC | TCGA-NK-A5CX-01A | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| * 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 | ENST00000328879 | ENST00000328194 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| Frame-shift | ENST00000328879 | ENST00000530044 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5CDS-intron | ENST00000328879 | ENST00000527700 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5CDS-intron | ENST00000328879 | ENST00000526523 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000440659 | ENST00000328194 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000440659 | ENST00000530044 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000440659 | ENST00000527700 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000440659 | ENST00000526523 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000470335 | ENST00000328194 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000470335 | ENST00000530044 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000470335 | ENST00000527700 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000470335 | ENST00000526523 | KLHL22 | chr22 | 20843272 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000328879 | ENST00000328194 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000328879 | ENST00000530044 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000328879 | ENST00000527700 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000328879 | ENST00000526523 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000440659 | ENST00000328194 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000440659 | ENST00000530044 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000440659 | ENST00000527700 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000440659 | ENST00000526523 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000470335 | ENST00000328194 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-3CDS | ENST00000470335 | ENST00000530044 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000470335 | ENST00000527700 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
| 5UTR-intron | ENST00000470335 | ENST00000526523 | KLHL22 | chr22 | 20850047 | - | DENND5A | chr11 | 9229179 | - |
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FusionProtFeatures for KLHL22_DENND5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KLHL22 | DENND5A |
| Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin ligase complex required for chromosome alignment andlocalization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitinligase complex mediates monoubiquitination of PLK1, leading toPLK1 dissociation from phosphoreceptor proteins and subsequentremoval from kinetochores, allowing silencing of the spindleassembly checkpoint (SAC) and chromosome segregation.Monoubiquitination of PLK1 does not lead to PLK1 degradation(PubMed:19995937, PubMed:23455478). The BCR(KLHL22) ubiquitinligase complex is also responsible for the amino acid-stimulated'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5.Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway. It is therefore an aminoacid-dependent activator within the amino acid-sensing branch ofthe TORC1 pathway, indirectly regulating different cellularprocesses including cell growth and autophagy (PubMed:29769719).{ECO:0000269|PubMed:19995937, ECO:0000269|PubMed:23455478,ECO:0000269|PubMed:29769719}. | Guanine nucleotide exchange factor (GEF) which mayactivate RAB6A and RAB39A and/or RAB39B. Promotes the exchange ofGDP to GTP, converting inactive GDP-bound Rab proteins into theiractive GTP-bound form. Involved in the negative regulation ofneurite outgrowth (By similarity). {ECO:0000250|UniProtKB:G3V7Q0,ECO:0000269|PubMed:20937701}. |
| 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 KLHL22_DENND5A |
| 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 KLHL22_DENND5A |
| 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 |
| KLHL22 | COPS5, COPS6, KLHL13, UBXN7, FAF1, UBXN1, CUL3, DCUN1D1, NEDD8, HSP90AA1, PLK1, KLHL9, NTRK1, GLUD2, SCARF2, LYRM4, METTL15, ATG4C, KLHL20, SCAF8, NFS1, C7orf55, MICU2, ATPAF2, KLHL26, MICU1, NDUFAF5, NUDCD3, NDUFB9, TRMT6, TMEM223, LYRM7, NOB1, GMNN, RBM15B, NOA1, GBAS, RBM14-RBM4, ZBTB34, CIZ1, EMC7, GLUD1, GFER, ZBTB33, POLDIP3, CCL21, LYRM5, BRCA1 | DENND5A | AR, CSNK2B, PRKCZ, ELAVL1, XRN2, TRIM25 |
| - 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 KLHL22_DENND5A |
| 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 KLHL22_DENND5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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