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Fusion Protein:CDC42BPB-RGS6 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: CDC42BPB-RGS6 | FusionPDB ID: 14858 | FusionGDB2.0 ID: 14858 | Hgene | Tgene | Gene symbol | CDC42BPB | RGS6 | Gene ID | 9578 | 9628 |
| Gene name | CDC42 binding protein kinase beta | regulator of G protein signaling 6 | |
| Synonyms | MRCKB | GAP|HA117|S914 | |
| Cytomap | 14q32.32 | 14q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein kinase MRCK betaCDC42 binding protein kinase beta (DMPK-like)CDC42BP-betaDMPK-like betaMRCK betamyotonic dystrophy kinase-related CDC42-binding kinase betamyotonic dystrophy protein kinase-like beta | regulator of G-protein signaling 6regulator of G-protein signalling 6 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q9Y5S2 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000361246, | ENST00000343854, ENST00000355512, ENST00000402788, ENST00000404301, ENST00000406236, ENST00000407322, ENST00000434263, ENST00000553690, ENST00000554782, ENST00000556437, ENST00000553525, ENST00000553530, ENST00000555571, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 17 X 16 X 10=2720 | 11 X 10 X 6=660 |
| # samples | 19 | 13 | |
| ** MAII score | log2(19/2720*10)=-3.83953532780675 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/660*10)=-2.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: CDC42BPB [Title/Abstract] AND RGS6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CDC42BPB(103449893)-RGS6(73029125), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. CDC42BPB-RGS6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. | ||
| * 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 | CDC42BPB | GO:0006468 | protein phosphorylation | 21949762 |
| Tgene | RGS6 | GO:0043547 | positive regulation of GTPase activity | 10521509 |
| Fusion gene breakpoints across CDC42BPB (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across RGS6 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | SKCM | TCGA-FW-A5DX-01A | CDC42BPB | chr14 | 103449893 | - | RGS6 | chr14 | 73029125 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000361246 | CDC42BPB | chr14 | 103449893 | - | ENST00000553525 | RGS6 | chr14 | 73029125 | + | 1240 | 1180 | 184 | 1230 | 348 |
| ENST00000361246 | CDC42BPB | chr14 | 103449893 | - | ENST00000555571 | RGS6 | chr14 | 73029125 | + | 1231 | 1180 | 184 | 1230 | 349 |
| ENST00000361246 | CDC42BPB | chr14 | 103449893 | - | ENST00000553530 | RGS6 | chr14 | 73029125 | + | 2710 | 1180 | 184 | 1230 | 348 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000361246 | ENST00000553525 | CDC42BPB | chr14 | 103449893 | - | RGS6 | chr14 | 73029125 | + | 0.001554664 | 0.99844533 |
| ENST00000361246 | ENST00000555571 | CDC42BPB | chr14 | 103449893 | - | RGS6 | chr14 | 73029125 | + | 0.001531888 | 0.9984681 |
| ENST00000361246 | ENST00000553530 | CDC42BPB | chr14 | 103449893 | - | RGS6 | chr14 | 73029125 | + | 0.000901498 | 0.99909854 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >14858_14858_1_CDC42BPB-RGS6_CDC42BPB_chr14_103449893_ENST00000361246_RGS6_chr14_73029125_ENST00000553525_length(amino acids)=348AA_BP=332 MLPGLAAAEPPRARPDGLAEPAVRGRRVGSGPRGTMSAKVRLKKLEQLLLDGPWRNESALSVETLLDVLVCLYTECSHSALRRDKYVAEF LEWAKPFTQLVKEMQLHREDFEIIKVIGRGAFGEVAVVKMKNTERIYAMKILNKWEMLKRAETACFREERDVLVNGDCQWITALHYAFQD ENHLYLVMDYYVGGDLLTLLSKFEDKLPEDMARFYIGEMVLAIDSIHQLHYVHRDIKPDNVLLDVNGHIRLADFGSCLKMNDDGTVQSSV -------------------------------------------------------------- >14858_14858_2_CDC42BPB-RGS6_CDC42BPB_chr14_103449893_ENST00000361246_RGS6_chr14_73029125_ENST00000553530_length(amino acids)=348AA_BP=332 MLPGLAAAEPPRARPDGLAEPAVRGRRVGSGPRGTMSAKVRLKKLEQLLLDGPWRNESALSVETLLDVLVCLYTECSHSALRRDKYVAEF LEWAKPFTQLVKEMQLHREDFEIIKVIGRGAFGEVAVVKMKNTERIYAMKILNKWEMLKRAETACFREERDVLVNGDCQWITALHYAFQD ENHLYLVMDYYVGGDLLTLLSKFEDKLPEDMARFYIGEMVLAIDSIHQLHYVHRDIKPDNVLLDVNGHIRLADFGSCLKMNDDGTVQSSV -------------------------------------------------------------- >14858_14858_3_CDC42BPB-RGS6_CDC42BPB_chr14_103449893_ENST00000361246_RGS6_chr14_73029125_ENST00000555571_length(amino acids)=349AA_BP=332 MLPGLAAAEPPRARPDGLAEPAVRGRRVGSGPRGTMSAKVRLKKLEQLLLDGPWRNESALSVETLLDVLVCLYTECSHSALRRDKYVAEF LEWAKPFTQLVKEMQLHREDFEIIKVIGRGAFGEVAVVKMKNTERIYAMKILNKWEMLKRAETACFREERDVLVNGDCQWITALHYAFQD ENHLYLVMDYYVGGDLLTLLSKFEDKLPEDMARFYIGEMVLAIDSIHQLHYVHRDIKPDNVLLDVNGHIRLADFGSCLKMNDDGTVQSSV -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:103449893/chr14:73029125) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDC42BPB | . |
| FUNCTION: Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715, PubMed:21949762). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates PPP1R12A (PubMed:21457715). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity). {ECO:0000250|UniProtKB:Q7TT50, ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:21457715, ECO:0000269|PubMed:21949762}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
| 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. |
| - 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 | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 82_90 | 297.0 | 1712.0 | Nucleotide binding | ATP |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000355512 | 0 | 16 | 261_330 | 0.0 | 461.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000355512 | 0 | 16 | 336_441 | 0.0 | 461.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000355512 | 0 | 16 | 40_115 | 0.0 | 461.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000404301 | 0 | 17 | 261_330 | 0.0 | 481.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000404301 | 0 | 17 | 336_441 | 0.0 | 481.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000404301 | 0 | 17 | 40_115 | 0.0 | 481.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000406236 | 0 | 17 | 261_330 | 0.0 | 476.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000406236 | 0 | 17 | 336_441 | 0.0 | 476.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000406236 | 0 | 17 | 40_115 | 0.0 | 476.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000407322 | 0 | 17 | 261_330 | 0.0 | 478.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000407322 | 0 | 17 | 336_441 | 0.0 | 478.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000407322 | 0 | 17 | 40_115 | 0.0 | 478.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000554782 | 0 | 14 | 261_330 | 0 | 347.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000554782 | 0 | 14 | 336_441 | 0 | 347.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000554782 | 0 | 14 | 40_115 | 0 | 347.0 | Domain | DEP |
| - 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 | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 431_815 | 297.0 | 1712.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 878_939 | 297.0 | 1712.0 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 1095_1214 | 297.0 | 1712.0 | Domain | PH |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 1240_1513 | 297.0 | 1712.0 | Domain | CNH |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 1583_1596 | 297.0 | 1712.0 | Domain | CRIB |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 343_413 | 297.0 | 1712.0 | Domain | AGC-kinase C-terminal |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 76_342 | 297.0 | 1712.0 | Domain | Protein kinase |
| Hgene | CDC42BPB | chr14:103449893 | chr14:73029125 | ENST00000361246 | - | 7 | 37 | 1025_1075 | 297.0 | 1712.0 | Zinc finger | Phorbol-ester/DAG-type |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000343854 | 14 | 16 | 261_330 | 437.0 | 454.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000343854 | 14 | 16 | 336_441 | 437.0 | 454.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000343854 | 14 | 16 | 40_115 | 437.0 | 454.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000402788 | 14 | 16 | 261_330 | 456.0 | 473.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000402788 | 14 | 16 | 336_441 | 456.0 | 473.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000402788 | 14 | 16 | 40_115 | 456.0 | 473.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000553525 | 16 | 18 | 261_330 | 474.0 | 491.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000553525 | 16 | 18 | 336_441 | 474.0 | 491.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000553525 | 16 | 18 | 40_115 | 474.0 | 491.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000553530 | 15 | 17 | 261_330 | 456.0 | 473.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000553530 | 15 | 17 | 336_441 | 456.0 | 473.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000553530 | 15 | 17 | 40_115 | 456.0 | 473.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000555571 | 15 | 17 | 261_330 | 456.0 | 473.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000555571 | 15 | 17 | 336_441 | 456.0 | 473.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000555571 | 15 | 17 | 40_115 | 456.0 | 473.0 | Domain | DEP | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000556437 | 16 | 18 | 261_330 | 474.0 | 491.0 | Domain | Note=G protein gamma | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000556437 | 16 | 18 | 336_441 | 474.0 | 491.0 | Domain | RGS | |
| Tgene | RGS6 | chr14:103449893 | chr14:73029125 | ENST00000556437 | 16 | 18 | 40_115 | 474.0 | 491.0 | Domain | DEP |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| CDC42BPB | |
| RGS6 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to CDC42BPB-RGS6 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CDC42BPB-RGS6 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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