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Fusion gene ID: 31163 |
FusionGeneSummary for RHOA_CACNA2D2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RHOA_CACNA2D2 | Fusion gene ID: 31163 | Hgene | Tgene | Gene symbol | RHOA | CACNA2D2 | Gene ID | 387 | 9254 |
| Gene name | ras homolog family member A | calcium voltage-gated channel auxiliary subunit alpha2delta 2 | |
| Synonyms | ARH12|ARHA|RHO12|RHOH12 | CACNA2D | |
| Cytomap | 3p21.31 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | transforming protein RhoAAplysia ras-related homolog 12oncogene RHO H12small GTP binding protein RhoA | voltage-dependent calcium channel subunit alpha-2/delta-2alpha 2 delta calcium channel subunitcalcium channel, voltage-dependent, alpha 2/delta subunit 2gene 26voltage-gated calcium channel subunit alpha-2/delta-2 | |
| Modification date | 20180527 | 20180522 | |
| UniProtAcc | P61586 | Q9NY47 | |
| Ensembl transtripts involved in fusion gene | ENST00000418115, ENST00000454011, ENST00000422781, ENST00000265538, | ENST00000423994, ENST00000429770, ENST00000435965, ENST00000266039, ENST00000395083, ENST00000360963, ENST00000424201, ENST00000479441, ENST00000487413, | |
| Fusion gene scores | * DoF score | 16 X 8 X 10=1280 | 6 X 6 X 4=144 |
| # samples | 16 | 6 | |
| ** MAII score | log2(16/1280*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RHOA [Title/Abstract] AND CACNA2D2 [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 | RHOA | GO:0007266 | Rho protein signal transduction | 26529257 |
| Hgene | RHOA | GO:0016477 | cell migration | 26529257 |
| Hgene | RHOA | GO:0032956 | regulation of actin cytoskeleton organization | 25911094 |
| Hgene | RHOA | GO:0035385 | Roundabout signaling pathway | 26529257 |
| Hgene | RHOA | GO:0036089 | cleavage furrow formation | 16103226 |
| Hgene | RHOA | GO:0051496 | positive regulation of stress fiber assembly | 15467718 |
| Hgene | RHOA | GO:0060193 | positive regulation of lipase activity | 19887681 |
| Hgene | RHOA | GO:0071222 | cellular response to lipopolysaccharide | 19734146 |
| Hgene | RHOA | GO:0071902 | positive regulation of protein serine/threonine kinase activity | 8617235 |
| 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 | BLCA | TCGA-FD-A3SJ-01A | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| * 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 |
| 5UTR-3CDS | ENST00000418115 | ENST00000423994 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000429770 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000435965 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000266039 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000395083 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000360963 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000424201 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000418115 | ENST00000479441 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-intron | ENST00000418115 | ENST00000487413 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000423994 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000429770 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000435965 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000266039 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000395083 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000360963 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000424201 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000454011 | ENST00000479441 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-intron | ENST00000454011 | ENST00000487413 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000423994 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000429770 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000435965 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000266039 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000395083 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000360963 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000424201 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-3CDS | ENST00000422781 | ENST00000479441 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| 5UTR-intron | ENST00000422781 | ENST00000487413 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000423994 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000429770 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000435965 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000266039 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000395083 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000360963 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000424201 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-3CDS | ENST00000265538 | ENST00000479441 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
| intron-intron | ENST00000265538 | ENST00000487413 | RHOA | chr3 | 49449253 | - | CACNA2D2 | chr3 | 50431599 | - |
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FusionProtFeatures for RHOA_CACNA2D2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RHOA | CACNA2D2 |
| Regulates a signal transduction pathway linking plasmamembrane receptors to the assembly of focal adhesions and actinstress fibers. Involved in a microtubule-dependent signal that isrequired for the myosin contractile ring formation during cellcycle cytokinesis. Plays an essential role in cleavage furrowformation. Required for the apical junction formation ofkeratinocyte cell-cell adhesion. Stimulates PKN2 kinase activity.May be an activator of PLCE1. Activated by ARHGEF2, which promotesthe exchange of GDP for GTP. Essential for the SPATA13-mediatedregulation of cell migration and adhesion assembly anddisassembly. The MEMO1-RHOA-DIAPH1 signaling pathway plays animportant role in ERBB2-dependent stabilization of microtubules atthe cell cortex. It controls the localization of APC and CLASP2 tothe cell membrane, via the regulation of GSK3B activity. In turn,membrane-bound APC allows the localization of the MACF1 to thecell membrane, which is required for microtubule capture andstabilization. Regulates a signal transduction pathway linkingplasma membrane receptors to the assembly of focal adhesions andactin stress fibers. Involved in a microtubule-dependent signalthat is required for the myosin contractile ring formation duringcell cycle cytokinesis. Plays an essential role in cleavage furrowformation. Required for the apical junction formation ofkeratinocyte cell-cell adhesion. May be an activator of PLCE1.Activated by ARHGEF2, which promotes the exchange of GDP for GTP.Essential for the SPATA13-mediated regulation of cell migrationand adhesion assembly and disassembly. The MEMO1-RHOA-DIAPH1signaling pathway plays an important role in ERBB2-dependentstabilization of microtubules at the cell cortex. It controls thelocalization of APC and CLASP2 to the cell membrane, via theregulation of GSK3B activity. In turn, membrane-bound APC allowsthe localization of the MACF1 to the cell membrane, which isrequired for microtubule capture and stabilization (Bysimilarity). Regulates KCNA2 potassium channel activity byreducing its location at the cell surface in response to CHRM1activation; promotes KCNA2 endocytosis (PubMed:9635436,PubMed:19403695). {ECO:0000250, ECO:0000269|PubMed:12900402,ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:16236794,ECO:0000269|PubMed:19934221, ECO:0000269|PubMed:20937854,ECO:0000269|PubMed:20974804, ECO:0000269|PubMed:8910519,ECO:0000269|PubMed:9121475, ECO:0000269|PubMed:9635436}. (Microbial infection) Serves as a target for the yopTcysteine peptidase from Yersinia pestis, vector of the plague.{ECO:0000269|PubMed:12062101, ECO:0000269|PubMed:12538863}. (Microbial infection) Serves as a target for the yopTcysteine peptidase from Yersinia pseudotuberculosis, which causesgastrointestinal disorders. {ECO:0000269|PubMed:12062101,ECO:0000269|PubMed:12538863}. | The alpha-2/delta subunit of voltage-dependent calciumchannels regulates calcium current density andactivation/inactivation kinetics of the calcium channel. Acts as aregulatory subunit for P/Q-type calcium channel (CACNA1A), N-type(CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type(CACNA1G). Overexpression induces apoptosis.{ECO:0000269|PubMed:12555074, ECO:0000269|PubMed:15111129}. |
| 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 RHOA_CACNA2D2 |
| 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 RHOA_CACNA2D2 |
| 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 |
| RHOA | PDE6D, RAP1GDS1, ARHGAP1, ARHGDIA, BID, TNFRSF10B, EZR, FADD, FASLG, MAPK8, MSN, CASP10, CASP8, FAS, TNFRSF1A, ARHGEF25, DEF6, ARHGAP32, ARHGAP5, ROCK1, PKN1, DIAPH1, CIT, RHPN2, KTN1, ITPR1, TRPC1, ARHGEF1, PLD1, RTKN, NET1, CRMP1, DPYSL2, ARHGEF12, HSPA1A, PLCG1, ARHGEF3, AKAP13, PKN2, ICMT, VAV3, ARHGEF18, ARHGAP26, ARHGAP10, KCNA2, ARHGEF4, ARHGEF2, ARHGAP35, ARHGEF11, RIPK4, MPRIP, OPHN1, DGKQ, ROCK2, TRIO, MCF2, PLEKHG2, ARHGDIG, MCF2L, BCR, PLXNB1, SMURF1, SMURF2, OTUB1, CUL3, SRGAP1, CAV1, HTR1A, MAP3K1, MDM2, PSMD10, MARK2, LRRK2, PPP1R12A, RPS27A, CLNS1A, MPV17, PON2, PRDX6, NUBP2, SLC25A5, PLIN3, CPT1A, RPL18, DDX1, BAIAP2, DIAPH3, CDKN1B, GNB2L1, RPN2, FAM65B, SMAD2, TBXA2R, BIRC2, IKBKG, KCTD13, TNFAIP1, TRIP6, IKZF3, UBC, DCUN1D1, KLHL20, MBD5, SERPINB5, TM4SF20, DIRAS3, LDB3, NFKBIA, TSC22D4, RASL10A, APOA1BP, ARHGDIB, GORASP2, PAFAH1B2, PRRC1, NUTF2, RPE, SHMT2, SLC25A12, CNKSR1, RHPN1, MED20, RPGR, LIMA1, ATP6AP2, NVL, UBE2V2, FUBP3, BAZ1A, STK39, SYNPO2, DAAM1, RASSF1, S100A4, ANLN, U2AF2, SH3GLB2, GOSR1, AGAP2, AGAP1, RHOC, PKN3, DNAL1, RABL3, AK9, IRGC, RAP2C, HDAC7, GLB1, VASH1, CTSA, FGB, LUM, PTEN, COX15, DLST, HSD17B10, PDHA1, SOD1, KRAS, NOTCH1 | CACNA2D2 | USP2, TAZ, TMEM25, BTNL8, PTCH1, PTPRK, RNASE13, PON2, KRAS, SCGB1D4, DEFA1, SCGB1D1, PNLIPRP1, C7orf69, INSL5 |
| - 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 RHOA_CACNA2D2 |
| 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 | CACNA2D2 | Q9NY47 | DB00270 | Isradipine | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational |
| Tgene | CACNA2D2 | Q9NY47 | DB00996 | Gabapentin | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational |
| Tgene | CACNA2D2 | Q9NY47 | DB01023 | Felodipine | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational |
| Tgene | CACNA2D2 | Q9NY47 | DB01054 | Nitrendipine | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational |
| Tgene | CACNA2D2 | Q9NY47 | DB01118 | Amiodarone | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|investigational |
| Tgene | CACNA2D2 | Q9NY47 | DB01244 | Bepridil | Voltage-dependent calcium channel subunit alpha-2/delta-2 | small molecule | approved|withdrawn |
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RelatedDiseases for RHOA_CACNA2D2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RHOA | C0038356 | Stomach Neoplasms | 3 | CTD_human |
| Hgene | RHOA | C0020981 | Angioimmunoblastic Lymphadenopathy | 2 | CTD_human |
| Hgene | RHOA | C0079774 | Peripheral T-Cell Lymphoma | 2 | CTD_human |
| Hgene | RHOA | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | RHOA | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| Hgene | RHOA | C0033687 | Proteinuria | 1 | CTD_human |
| Hgene | RHOA | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
| Hgene | RHOA | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| Hgene | RHOA | C0235833 | Congenital diaphragmatic hernia | 1 | CTD_human |
| Tgene | CACNA2D2 | C0004134 | Ataxia | 1 | CTD_human |
| Tgene | CACNA2D2 | C0008489 | Chorea | 1 | CTD_human |
| Tgene | CACNA2D2 | C0014553 | Absence Epilepsy | 1 | CTD_human |
| Tgene | CACNA2D2 | C0021361 | Female infertility | 1 | CTD_human |
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