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Fusion gene ID: 31228 |
FusionGeneSummary for RIC8B_ORAI1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RIC8B_ORAI1 | Fusion gene ID: 31228 | Hgene | Tgene | Gene symbol | RIC8B | ORAI1 | Gene ID | 55188 | 84876 |
| Gene name | RIC8 guanine nucleotide exchange factor B | ORAI calcium release-activated calcium modulator 1 | |
| Synonyms | RIC8|hSyn | CRACM1|IMD9|ORAT1|TAM2|TMEM142A | |
| Cytomap | 12q23.3 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | synembryn-Bbrain synembrinbrain synembrynresistance to inhibitors of cholinesterase 8 homolog B | calcium release-activated calcium channel protein 1calcium release-activated calcium modulator 1protein orai-1transmembrane protein 142A | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9NVN3 | Q96D31 | |
| Ensembl transtripts involved in fusion gene | ENST00000392837, ENST00000392839, ENST00000355478, ENST00000549643, | ENST00000330079, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 1 X 6=24 |
| # samples | 2 | 6 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/24*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RIC8B [Title/Abstract] AND ORAI1 [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 | RIC8B | GO:0008277 | regulation of G-protein coupled receptor protein signaling pathway | 12652642 |
| Tgene | ORAI1 | GO:0002115 | store-operated calcium entry | 28219928 |
| Tgene | ORAI1 | GO:0051928 | positive regulation of calcium ion transport | 16645049|16733527|16766533|16807233 |
| 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 | RV | KIRP | TCGA-A4-A5Y1-01A | RIC8B | chr12 | 107219598 | + | ORAI1 | chr12 | 122078947 | + |
| * 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 | ENST00000392837 | ENST00000330079 | RIC8B | chr12 | 107219598 | + | ORAI1 | chr12 | 122078947 | + |
| Frame-shift | ENST00000392839 | ENST00000330079 | RIC8B | chr12 | 107219598 | + | ORAI1 | chr12 | 122078947 | + |
| Frame-shift | ENST00000355478 | ENST00000330079 | RIC8B | chr12 | 107219598 | + | ORAI1 | chr12 | 122078947 | + |
| intron-3CDS | ENST00000549643 | ENST00000330079 | RIC8B | chr12 | 107219598 | + | ORAI1 | chr12 | 122078947 | + |
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FusionProtFeatures for RIC8B_ORAI1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RIC8B | ORAI1 |
| Guanine nucleotide exchange factor (GEF), which canactivate some, but not all, G-alpha proteins by exchanging boundGDP for free GTP. Able to potentiate G(olf)-alpha-dependent cAMPaccumulation suggesting that it may be an important component forodorant signal transduction. {ECO:0000250}. | Ca(2+) release-activated Ca(2+) (CRAC) channel subunitwhich mediates Ca(2+) influx following depletion of intracellularCa(2+) stores and channel activation by the Ca(2+) sensor, STIM1(PubMed:16582901, PubMed:16645049, PubMed:16733527,PubMed:16766533, PubMed:16807233, PubMed:19249086,PubMed:23307288, PubMed:24351972, PubMed:24591628,PubMed:28219928). CRAC channels are the main pathway for Ca(2+)influx in T-cells and promote the immune response to pathogens byactivating the transcription factor NFAT (PubMed:16582901).{ECO:0000269|PubMed:16582901, ECO:0000269|PubMed:16645049,ECO:0000269|PubMed:16733527, ECO:0000269|PubMed:16766533,ECO:0000269|PubMed:16807233, ECO:0000269|PubMed:19249086,ECO:0000269|PubMed:23307288, ECO:0000269|PubMed:24351972,ECO:0000269|PubMed:24591628, ECO:0000269|PubMed:28219928}. |
| 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 RIC8B_ORAI1 |
| 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 RIC8B_ORAI1 |
| 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 |
| RIC8B | LRP1, GNAI2, PPARD, TFDP3, NAP1L1, RASL10A, CHIA, TUBAL3, CASQ2, ACTL6A, CAMKMT, THBS3, GNAS, GNAQ, XPO1, MAGED2, UBE2O, INTU, ENSA, TIGD5, AARSD1 | ORAI1 | UBQLN1, LPAR6, FAF2 |
| - 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 RIC8B_ORAI1 |
| 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 RIC8B_ORAI1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ORAI1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | ORAI1 | C2748568 | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | ORAI1 | C4014557 | MYOPATHY, TUBULAR AGGREGATE, 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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