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Fusion gene ID: 36448 |
FusionGeneSummary for STIM1_ANO9 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: STIM1_ANO9 | Fusion gene ID: 36448 | Hgene | Tgene | Gene symbol | STIM1 | ANO9 | Gene ID | 6786 | 338440 |
| Gene name | stromal interaction molecule 1 | anoctamin 9 | |
| Synonyms | D11S4896E|GOK|IMD10|STRMK|TAM|TAM1 | PIG5|TMEM16J|TP53I5 | |
| Cytomap | 11p15.4 | 11p15.5 | |
| Type of gene | protein-coding | protein-coding | |
| Description | stromal interaction molecule 1 | anoctamin-9p53-induced gene 5 proteintransmembrane protein 16Jtumor protein p53-inducible protein 5 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q13586 | A1A5B4 | |
| Ensembl transtripts involved in fusion gene | ENST00000300737, ENST00000527651, ENST00000527484, ENST00000533977, | ENST00000332826, | |
| Fusion gene scores | * DoF score | 12 X 8 X 8=768 | 3 X 3 X 3=27 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/768*10)=-2.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: STIM1 [Title/Abstract] AND ANO9 [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 | STIM1 | GO:0002115 | store-operated calcium entry | 28219928 |
| Hgene | STIM1 | GO:0005513 | detection of calcium ion | 16005298 |
| Hgene | STIM1 | GO:0032237 | activation of store-operated calcium channel activity | 16005298|26322679|28219928 |
| Hgene | STIM1 | GO:0051924 | regulation of calcium ion transport | 16005298 |
| Tgene | ANO9 | GO:1902939 | negative regulation of intracellular calcium activated chloride channel activity | 22946059 |
| 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 | LGG | TCGA-TQ-A7RV-01A | STIM1 | chr11 | 4045217 | + | ANO9 | chr11 | 434098 | - |
| * 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 | ENST00000300737 | ENST00000332826 | STIM1 | chr11 | 4045217 | + | ANO9 | chr11 | 434098 | - |
| Frame-shift | ENST00000527651 | ENST00000332826 | STIM1 | chr11 | 4045217 | + | ANO9 | chr11 | 434098 | - |
| 3UTR-3CDS | ENST00000527484 | ENST00000332826 | STIM1 | chr11 | 4045217 | + | ANO9 | chr11 | 434098 | - |
| intron-3CDS | ENST00000533977 | ENST00000332826 | STIM1 | chr11 | 4045217 | + | ANO9 | chr11 | 434098 | - |
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FusionProtFeatures for STIM1_ANO9 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| STIM1 | ANO9 |
| Plays a role in mediating store-operated Ca(2+) entry(SOCE), a Ca(2+) influx following depletion of intracellularCa(2+) stores (PubMed:15866891, PubMed:16005298, PubMed:16208375,PubMed:16537481, PubMed:16733527, PubMed:16766533,PubMed:16807233, PubMed:18854159, PubMed:19249086,PubMed:22464749, PubMed:24069340, PubMed:24351972,PubMed:24591628, PubMed:26322679, PubMed:25326555,PubMed:28219928). Acts as Ca(2+) sensor in the endoplasmicreticulum via its EF-hand domain. Upon Ca(2+) depletion,translocates from the endoplasmic reticulum to the plasma membranewhere it activates the Ca(2+) release-activated Ca(2+) (CRAC)channel subunit ORAI1 (PubMed:16208375, PubMed:16537481). Involvedin enamel formation (PubMed:24621671). Activated followinginteraction with STIMATE, leading to promote STIM1 conformationalswitch (PubMed:26322679). {ECO:0000269|PubMed:15866891,ECO:0000269|PubMed:16005298, ECO:0000269|PubMed:16208375,ECO:0000269|PubMed:16537481, ECO:0000269|PubMed:16733527,ECO:0000269|PubMed:16766533, ECO:0000269|PubMed:16807233,ECO:0000269|PubMed:18854159, ECO:0000269|PubMed:19249086,ECO:0000269|PubMed:22464749, ECO:0000269|PubMed:24069340,ECO:0000269|PubMed:24351972, ECO:0000269|PubMed:24591628,ECO:0000269|PubMed:24621671, ECO:0000269|PubMed:25326555,ECO:0000269|PubMed:26322679, ECO:0000269|PubMed:28219928}. | Has calcium-dependent phospholipid scramblase activity;scrambles phosphatidylserine, phosphatidylcholine andgalactosylceramide (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit theactivity of ANO1. {ECO:0000250|UniProtKB:P86044,ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}. |
| 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 STIM1_ANO9 |
| 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 STIM1_ANO9 |
| 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 |
| STIM1 | STIM2, PRKAA2, SEPT11, S100A16, SEC22B, CAT, SF1, MAPRE1, HLA-DRA, METTL6, GABRE, IFNA14, HEXB, TCTN2, TCTN3, EVC2, TMEM17, TMEM216, CDH1, PTPRN2, CCDC40, HAUS1, LRRTM1, IL17RB, SLC39A9, CD1E, EXOC5 | ANO9 | TENC1 |
| - 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 STIM1_ANO9 |
| 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 STIM1_ANO9 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | STIM1 | C1861451 | Stormorken Syndrome | 4 | ORPHANET;UNIPROT |
| Hgene | STIM1 | C4011726 | MYOPATHY, TUBULAR AGGREGATE, 1 | 4 | UNIPROT |
| Hgene | STIM1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | STIM1 | C2748557 | Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | STIM1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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