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Fusion gene ID: 2534 |
FusionGeneSummary for ARHGEF18_AAMDC |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGEF18_AAMDC | Fusion gene ID: 2534 | Hgene | Tgene | Gene symbol | ARHGEF18 | AAMDC | Gene ID | 23370 | 28971 |
| Gene name | Rho/Rac guanine nucleotide exchange factor 18 | adipogenesis associated Mth938 domain containing | |
| Synonyms | P114-RhoGEF|RP78 | C11orf67|CK067|PTD015 | |
| Cytomap | 19p13.2 | 11q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho guanine nucleotide exchange factor 18114 kDa Rho-specific guanine nucleotide exchange factorRho-specific guanine nucleotide exchange factor p114Rho/Rac guanine nucleotide exchange factor (GEF) 18SA-RhoGEFp114RhoGEFseptin-associated RhoGEF | mth938 domain-containing proteinUPF0366 protein C11orf67adipogenesis associated Mth938 domain-containing protein | |
| Modification date | 20180519 | 20180524 | |
| UniProtAcc | Q6ZSZ5 | Q9H7C9 | |
| Ensembl transtripts involved in fusion gene | ENST00000319670, ENST00000359920, | ENST00000532481, ENST00000527134, ENST00000304716, ENST00000526415, ENST00000531855, ENST00000393427, ENST00000525409, ENST00000533193, ENST00000525034, | |
| Fusion gene scores | * DoF score | 8 X 8 X 8=512 | 8 X 5 X 5=200 |
| # samples | 13 | 9 | |
| ** MAII score | log2(13/512*10)=-1.97763218697155 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/200*10)=-1.15200309344505 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARHGEF18 [Title/Abstract] AND AAMDC [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 | ARHGEF18 | GO:0007264 | small GTPase mediated signal transduction | 14512443 |
| Hgene | ARHGEF18 | GO:0008360 | regulation of cell shape | 14512443 |
| Hgene | ARHGEF18 | GO:0030036 | actin cytoskeleton organization | 14512443 |
| 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 | BRCA | TCGA-AQ-A04L-01B | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| * 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 | ENST00000319670 | ENST00000532481 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000527134 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000304716 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000526415 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000531855 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000393427 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000525409 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000533193 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000319670 | ENST00000525034 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| Frame-shift | ENST00000359920 | ENST00000532481 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000527134 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000304716 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000526415 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000531855 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000393427 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000525409 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000533193 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
| 5CDS-intron | ENST00000359920 | ENST00000525034 | ARHGEF18 | chr19 | 7518601 | + | AAMDC | chr11 | 77629107 | + |
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FusionProtFeatures for ARHGEF18_AAMDC |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGEF18 | AAMDC |
| Acts as guanine nucleotide exchange factor (GEF) forRhoA GTPases. Its activation induces formation of actin stressfibers. Also act as a GEF for RAC1, inducing production ofreactive oxygen species (ROS). Does not act as a GEF for CDC42.The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric Gproteins act as activators, explaining the integrated effects ofLPA and other G-protein coupled receptor agonists on actin stressfiber formation, cell shape change and ROS production. Requiredfor EPB41L4B-mediated regulation of the circumferential actomyosinbelt in epithelial cells (PubMed:22006950).{ECO:0000269|PubMed:11085924, ECO:0000269|PubMed:14512443,ECO:0000269|PubMed:15558029, ECO:0000269|PubMed:22006950,ECO:0000269|PubMed:28132693}. | May play a role in preadipocyte differentiation andadipogenesis. {ECO:0000250}. |
| 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 ARHGEF18_AAMDC |
| 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 ARHGEF18_AAMDC |
| 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 |
| ARHGEF18 | GNB1, RHOA, TAF10, TERF1, LTBR, CNTRL | AAMDC | APP, BAG3, GORASP2, ACY3, EGFR |
| - 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 ARHGEF18_AAMDC |
| 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 ARHGEF18_AAMDC |
| 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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