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Fusion gene ID: 14845 |
FusionGeneSummary for GNAI3_CASQ2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GNAI3_CASQ2 | Fusion gene ID: 14845 | Hgene | Tgene | Gene symbol | GNAI3 | CASQ2 | Gene ID | 2773 | 845 |
| Gene name | G protein subunit alpha i3 | calsequestrin 2 | |
| Synonyms | 87U6|ARCND1 | PDIB2 | |
| Cytomap | 1p13.3 | 1p13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | guanine nucleotide-binding protein G(k) subunit alphag(i) alpha-3guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 | calsequestrin-2calsequestrin 2 (cardiac muscle)calsequestrin 2, fast-twitch, cardiac musclecalsequestrin, cardiac muscle isoform | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P08754 | O14958 | |
| Ensembl transtripts involved in fusion gene | ENST00000369851, | ENST00000261448, ENST00000456138, ENST00000488931, | |
| Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 3 X 2 X 2=12 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/144*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: GNAI3 [Title/Abstract] AND CASQ2 [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 | GNAI3 | GO:0007193 | adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway | 19478087 |
| Hgene | GNAI3 | GO:0007212 | dopamine receptor signaling pathway | 19478087 |
| Hgene | GNAI3 | GO:0046039 | GTP metabolic process | 19478087 |
| Hgene | GNAI3 | GO:0051301 | cell division | 17635935 |
| Tgene | CASQ2 | GO:0051208 | sequestering of calcium ion | 16601229 |
| Tgene | CASQ2 | GO:0051258 | protein polymerization | 17881003|22123818 |
| Tgene | CASQ2 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 16601229 |
| 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 | BRCA | TCGA-AR-A24Q-01A | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
| * 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 | ENST00000369851 | ENST00000261448 | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
| Frame-shift | ENST00000369851 | ENST00000456138 | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
| 5CDS-intron | ENST00000369851 | ENST00000488931 | GNAI3 | chr1 | 110091460 | + | CASQ2 | chr1 | 116287533 | - |
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FusionProtFeatures for GNAI3_CASQ2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GNAI3 | CASQ2 |
| Heterotrimeric guanine nucleotide-binding proteins (Gproteins) function as transducers downstream of G protein-coupledreceptors (GPCRs) in numerous signaling cascades. The alpha chaincontains the guanine nucleotide binding site and alternatesbetween an active, GTP-bound state and an inactive, GDP-boundstate. Signaling by an activated GPCR promotes GDP release and GTPbinding. The alpha subunit has a low GTPase activity that convertsbound GTP to GDP, thereby terminating the signal. Both GDP releaseand GTP hydrolysis are modulated by numerous regulatory proteins(PubMed:8774883, PubMed:18434541, PubMed:19478087). Signaling ismediated via effector proteins, such as adenylate cyclase.Inhibits adenylate cyclase activity, leading to decreasedintracellular cAMP levels (PubMed:19478087). Stimulates theactivity of receptor-regulated K(+) channels (PubMed:2535845). Theactive GTP-bound form prevents the association of RGS14 withcentrosomes and is required for the translocation of RGS14 fromthe cytoplasm to the plasma membrane. May play a role in celldivision (PubMed:17635935). {ECO:0000269|PubMed:17635935,ECO:0000269|PubMed:18434541, ECO:0000269|PubMed:2535845,ECO:0000269|PubMed:8774883}. | Calsequestrin is a high-capacity, moderate affinity,calcium-binding protein and thus acts as an internal calcium storein muscle. Calcium ions are bound by clusters of acidic residuesat the protein surface, especially at the interface betweensubunits. Can bind around 60 Ca(2+) ions. Regulates the release oflumenal Ca(2+) via the calcium release channel RYR2; this plays animportant role in triggering muscle contraction. Plays a role inexcitation-contraction coupling in the heart and in regulating therate of heart beats. {ECO:0000269|PubMed:16908766,ECO:0000269|PubMed:17881003, ECO:0000269|PubMed:18399795,ECO:0000269|PubMed:21416293}. |
| 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 GNAI3_CASQ2 |
| 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 GNAI3_CASQ2 |
| 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 |
| GNAI3 | RGS19, GPSM2, CNR1, RGS18, RGS10, MTNR1A, C5AR1, RGS3, RGS2, RGS5, RGS16, RGS14, RGS12, RGS7, RIC8A, S1PR1, ELAVL1, GNB1, GNB2, GNB4, PRKAR2B, GNAI1, GNAI2, CDV3, CCNT1, CD55, FN1, NCF2, PAN2, ADRB2, BAG3, NUCB1, NUCB2, RANGAP1, SOX30, ATP12A, CAPNS1, EIF5, BZW1, LDHA, LDHB, PGD, TXNDC5, UBFD1, VCL, XPO1, YWHAH, YWHAQ, GNB3, RGS17, GPSM3, CCDC88C, NXF1, GPSM1, CCDC88A, GNG4, RAP1GAP, GNAO1, GNAT2, CLTCL1, ATP2A3, RDH13, OSBP, GNG10, AAAS, ALG6, USP33, NDC1, GNG5, TMEM222, GNG11, DCUN1D5, ANKRD13B, GNG7, PCP2, ESR1, RAB11B, PSMD3, NTRK1, SYNPO, GTSE1, DUSP22, MTNR1B, TRIM25, UBE2A, RASA3 | CASQ2 | TRDN, ACTA2, ZFP91, GTF3C2, CBX6, CUL7, GTPBP6, PPP1R9A, PPP1R9B, GTF3C3, ZBTB21, GTF3C1, WDR12, PRDM10, OBSL1, EPB41L5, EPB41L4B, RIC8B, SENP5, GLTSCR2, KLHL11, RPS15, MRPL44, DAXX, MRPL20, CCDC8, PRPF3, SULF2, ASB1, MARK3, PES1, MYCBP2, TSNARE1, FBXW8, MRPL21, MRPL43, NIN, BOP1, DDX51, PLCD3, RPP38, SGOL2, MRPL42, FBXO30 |
| - 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 GNAI3_CASQ2 |
| 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 | CASQ2 | O14958 | DB11093 | Calcium Citrate | Calsequestrin-2 | small molecule | approved |
| Tgene | CASQ2 | O14958 | DB11348 | Calcium Phosphate | Calsequestrin-2 | small molecule | approved |
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RelatedDiseases for GNAI3_CASQ2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GNAI3 | C0002622 | Amnesia | 1 | CTD_human |
| Hgene | GNAI3 | C1865295 | Auriculo-condylar syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | CASQ2 | C2677794 | Stress-induced polymorphic ventricular tachycardia | 3 | CTD_human;UNIPROT |
| Tgene | CASQ2 | C0042514 | Tachycardia, Ventricular | 1 | CTD_human;HPO |
| Tgene | CASQ2 | C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | 1 | CTD_human;ORPHANET |
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