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Fusion gene ID: 31193 |
FusionGeneSummary for RHOH_CHRNA9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RHOH_CHRNA9 | Fusion gene ID: 31193 | Hgene | Tgene | Gene symbol | RHOH | CHRNA9 | Gene ID | 399 | 55584 |
| Gene name | ras homolog family member H | cholinergic receptor nicotinic alpha 9 subunit | |
| Synonyms | ARHH|TTF | HSA243342|NACHRA9 | |
| Cytomap | 4p14 | 4p14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho-related GTP-binding protein RhoHGTP-binding protein TTFTTF, translocation three fourras homolog gene family, member H | neuronal acetylcholine receptor subunit alpha-9NACHR alpha 9acetylcholine receptor, neuronal nicotinic, alpha-9 subunitcholinergic receptor, nicotinic alpha 9cholinergic receptor, nicotinic, alpha 9 (neuronal)cholinergic receptor, nicotinic, alpha po | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15669 | Q9UGM1 | |
| Ensembl transtripts involved in fusion gene | ENST00000505618, ENST00000381799, ENST00000514143, | ENST00000310169, ENST00000502377, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 1 X 3=9 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RHOH [Title/Abstract] AND CHRNA9 [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 | RHOH | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 11809807 |
| 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-A8-A09M-01A | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
| * 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 | ENST00000505618 | ENST00000310169 | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
| 5UTR-intron | ENST00000505618 | ENST00000502377 | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
| intron-3CDS | ENST00000381799 | ENST00000310169 | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
| intron-intron | ENST00000381799 | ENST00000502377 | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
| intron-3CDS | ENST00000514143 | ENST00000310169 | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
| intron-intron | ENST00000514143 | ENST00000502377 | RHOH | chr4 | 40192958 | + | CHRNA9 | chr4 | 40350899 | + |
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FusionProtFeatures for RHOH_CHRNA9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RHOH | CHRNA9 |
| Negative regulator of hematopoietic progenitor cellproliferation, survival and migration. Critical regulator ofthymocyte development and T-cell antigen receptor (TCR) signalingby mediating recruitment and activation of ZAP70. Required forphosphorylation of CD3Z, membrane translocation of ZAP70 andsubsequent activation of the ZAP70-mediated pathways. Essentialfor efficient beta-selection and positive selection by promotingthe ZAP70-dependent phosphorylation of the LAT signalosome duringpre-TCR and TCR signaling. Crucial for thymocyte maturation duringDN3 to DN4 transition and during positive selection. Playscritical roles in mast cell function by facilitatingphosphorylation of SYK in Fc epsilon RI-mediated signaltransduction. Essential for the phosphorylation of LAT, LCP2,PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (Bysimilarity). Binds GTP but lacks intrinsic GTPase activity and isresistant to Rho-specific GTPase-activating proteins. Inhibits theactivation of NF-kappa-B by TNF and IKKB and the activation ofCRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42.Negatively regulates leukotriene production in neutrophils.{ECO:0000250, ECO:0000269|PubMed:11809807,ECO:0000269|PubMed:19414807}. | Ionotropic receptor with a probable role in themodulation of auditory stimuli. Agonist binding induces aconformation change that leads to the opening of an ion-conductingchannel across the plasma membrane (PubMed:11752216,PubMed:25282151). The channel is permeable to a range of divalentcations including calcium, the influx of which may activate apotassium current which hyperpolarizes the cell membrane(PubMed:11752216, PubMed:25282151). In the ear, this may lead to areduction in basilar membrane motion, altering the activity ofauditory nerve fibers and reducing the range of dynamic hearing.This may protect against acoustic trauma. May also regulatekeratinocyte adhesion (PubMed:11021840).{ECO:0000269|PubMed:11021840, ECO:0000269|PubMed:11752216,ECO:0000269|PubMed:25282151, ECO:0000305}. |
| 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 RHOH_CHRNA9 |
| 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 RHOH_CHRNA9 |
| 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 |
| RHOH | LRIF1, UTP14A, ARHGDIA, ARHGDIB, ARHGDIG | CHRNA9 | POM121, KIAA0922, FAM76B, NUFIP2, SLC30A1, SPECC1L, SLC12A9, TMX2, METTL9, NETO2, KIF5B, KIF5A, C1orf43, CCPG1, POMGNT2, CKAP4, TMEM39B, KLC2, KLC4, DHRS7, SLC30A5, LRRC59, C3orf58, PBXIP1, CISD2, CELSR1, LEMD2, KIAA1715, GOLM1, DROSHA, GHDC, BTN2A2, HS2ST1, EPHX1, HMOX1, GRAMD1A, ATF6B, HMGCR, TMUB1, PPP1R15B, TMEM57, CHEK1, SLC30A6, ATP11C, HS6ST1, FUT8, ZDHHC9, PDE3B, TMEM39A, SNX14, SLC30A7, PDZD8, DNAJC18, ERGIC2, RER1, YKT6, MAVS, FAM189B, C19orf52, DDRGK1, EIF2AK3, ST7, TMEM120B, MAP7, DNAJC30, LCLAT1, ZNF785, C9orf91, ANKRD10, POLR3GL, NUS1, PCDHGC3 |
| - 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 RHOH_CHRNA9 |
| 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 | CHRNA9 | Q9UGM1 | DB00184 | Nicotine | Neuronal acetylcholine receptor subunit alpha-9 | small molecule | approved |
| Tgene | CHRNA9 | Q9UGM1 | DB00674 | Galantamine | Neuronal acetylcholine receptor subunit alpha-9 | small molecule | approved |
| Tgene | CHRNA9 | Q9UGM1 | DB00898 | Ethanol | Neuronal acetylcholine receptor subunit alpha-9 | small molecule | approved |
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RelatedDiseases for RHOH_CHRNA9 |
| 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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