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Fusion gene ID: 2562 |
FusionGeneSummary for ARHGEF2_RAB6A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGEF2_RAB6A | Fusion gene ID: 2562 | Hgene | Tgene | Gene symbol | ARHGEF2 | RAB6A | Gene ID | 9181 | 5870 |
| Gene name | Rho/Rac guanine nucleotide exchange factor 2 | RAB6A, member RAS oncogene family | |
| Synonyms | GEF|GEF-H1|GEFH1|LFP40|NEDMHM|P40 | RAB6 | |
| Cytomap | 1q22 | 11q13.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho guanine nucleotide exchange factor 2Rho/Rac guanine nucleotide exchange factor (GEF) 2guanine nucleotide exchange factor H1microtubule-regulated Rho-GEFproliferating cell nucleolar antigen p40 | ras-related protein Rab-6ARAB6, member RAS oncogene familyRab GTPase | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q92974 | P20340 | |
| Ensembl transtripts involved in fusion gene | ENST00000368315, ENST00000313695, ENST00000361247, ENST00000368316, ENST00000462460, ENST00000477754, ENST00000313667, | ENST00000310653, ENST00000336083, ENST00000536566, ENST00000541588, | |
| Fusion gene scores | * DoF score | 9 X 8 X 9=648 | 12 X 8 X 8=768 |
| # samples | 10 | 19 | |
| ** MAII score | log2(10/648*10)=-2.6959938131099 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/768*10)=-2.01510689239021 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ARHGEF2 [Title/Abstract] AND RAB6A [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 | ARHGEF2 | GO:0032755 | positive regulation of interleukin-6 production | 21887730 |
| Hgene | ARHGEF2 | GO:0032760 | positive regulation of tumor necrosis factor production | 21887730 |
| Hgene | ARHGEF2 | GO:0045666 | positive regulation of neuron differentiation | 28453519 |
| Hgene | ARHGEF2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21887730 |
| Hgene | ARHGEF2 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21887730 |
| Hgene | ARHGEF2 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 19043560|21887730 |
| Hgene | ARHGEF2 | GO:0055059 | asymmetric neuroblast division | 28453519 |
| Hgene | ARHGEF2 | GO:0071225 | cellular response to muramyl dipeptide | 21887730 |
| Tgene | RAB6A | GO:0018125 | peptidyl-cysteine methylation | 11121396 |
| Tgene | RAB6A | GO:0034067 | protein localization to Golgi apparatus | 12447383|18243103 |
| 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 |
| ChiTaRS3.1 | BM985170 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| * 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 |
| intron-intron | ENST00000368315 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368315 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368315 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368315 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313695 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313695 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313695 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313695 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000361247 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000361247 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000361247 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000361247 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368316 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368316 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368316 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000368316 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000462460 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000462460 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000462460 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000462460 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000477754 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000477754 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000477754 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000477754 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313667 | ENST00000310653 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313667 | ENST00000336083 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313667 | ENST00000536566 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
| intron-intron | ENST00000313667 | ENST00000541588 | ARHGEF2 | chr1 | 155918181 | + | RAB6A | chr11 | 73472598 | - |
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FusionProtFeatures for ARHGEF2_RAB6A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGEF2 | RAB6A |
| Activates Rho-GTPases by promoting the exchange of GDPfor GTP. May be involved in epithelial barrier permeability, cellmotility and polarization, dendritic spine morphology, antigenpresentation, leukemic cell differentiation, cell cycleregulation, innate immune response, and cancer. Binds Rac-GTPases,but does not seem to promote nucleotide exchange activity towardRac-GTPases, which was uniquely reported in PubMed:9857026. Maystimulate instead the cortical activity of Rac. Inactive towardCDC42, TC10, or Ras-GTPases. Forms an intracellular sensing systemalong with NOD1 for the detection of microbial effectors duringcell invasion by pathogens. Required for RHOA and RIP2 dependentNF-kappaB signaling pathways activation upon S.flexneri cellinvasion. Involved not only in sensing peptidoglycan (PGN)-derivedmuropeptides through NOD1 that is independent of its GEF activity,but also in the activation of NF-kappaB by Shigella effectorproteins (IpgB2 and OspB) which requires its GEF activity and theactivation of RhoA. Involved in innate immune signalingtransduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterialpeptidoglycans; acts as a signaling intermediate between NOD2receptor and RIPK2 kinase. Contributes to the tyrosinephosphorylation of RIPK2 through Src tyrosine kinase leading toNF-kappaB activation by NOD2. Overexpression activates Rho-, butnot Rac-GTPases, and increases paracellular permeability (Bysimilarity). Involved in neuronal progenitor cell division anddifferentiation (PubMed:28453519). Involved in the migration ofprecerebellar neurons (By similarity).{ECO:0000250|UniProtKB:Q60875, ECO:0000250|UniProtKB:Q865S3,ECO:0000269|PubMed:19043560, ECO:0000269|PubMed:21887730,ECO:0000269|PubMed:28453519, ECO:0000269|PubMed:9857026}. | Protein transport. Regulator of membrane traffic fromthe Golgi apparatus towards the endoplasmic reticulum (ER). Has alow GTPase activity. Involved in COPI-independent retrogradetransport from the Golgi to the ER (PubMed:25962623).{ECO:0000269|PubMed:25962623}. |
| 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 ARHGEF2_RAB6A |
| 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 ARHGEF2_RAB6A |
| 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 |
| - 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 ARHGEF2_RAB6A |
| 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 ARHGEF2_RAB6A |
| 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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