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Fusion gene ID: 24217 |
FusionGeneSummary for NFIA_RYR2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NFIA_RYR2 | Fusion gene ID: 24217 | Hgene | Tgene | Gene symbol | NFIA | RYR2 | Gene ID | 4774 | 6262 |
| Gene name | nuclear factor I A | ryanodine receptor 2 | |
| Synonyms | BRMUTD|CTF|NF-I/A|NF1-A|NFI-A|NFI-L | ARVC2|ARVD2|RYR-2|RyR|VTSIP | |
| Cytomap | 1p31.3 | 1q43 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear factor 1 A-typeCCAAT-box-binding transcription factorTGGCA-binding protein | ryanodine receptor 2cardiac muscle ryanodine receptor-calcium release channelcardiac-type ryanodine receptorislet-type ryanodine receptorkidney-type ryanodine receptorryanodine receptor 2 (cardiac)type 2 ryanodine receptor | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q12857 | Q92736 | |
| Ensembl transtripts involved in fusion gene | ENST00000371191, ENST00000407417, ENST00000479364, ENST00000371189, ENST00000403491, ENST00000371187, ENST00000485903, ENST00000371185, ENST00000371184, ENST00000357977, | ENST00000366574, ENST00000360064, ENST00000542537, ENST00000609119, | |
| Fusion gene scores | * DoF score | 14 X 13 X 7=1274 | 5 X 5 X 2=50 |
| # samples | 18 | 7 | |
| ** MAII score | log2(18/1274*10)=-2.82329646592663 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/50*10)=0.485426827170242 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: NFIA [Title/Abstract] AND RYR2 [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 | NFIA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17010934 |
| Tgene | RYR2 | GO:0005513 | detection of calcium ion | 10830164 |
| Tgene | RYR2 | GO:0006816 | calcium ion transport | 17921453 |
| Tgene | RYR2 | GO:0031000 | response to caffeine | 17921453 |
| Tgene | RYR2 | GO:0035584 | calcium-mediated signaling using intracellular calcium source | 17921453 |
| Tgene | RYR2 | GO:0051209 | release of sequestered calcium ion into cytosol | 12443530|17921453 |
| Tgene | RYR2 | GO:0051284 | positive regulation of sequestering of calcium ion | 12443530|12919952 |
| Tgene | RYR2 | GO:0051775 | response to redox state | 19226252 |
| Tgene | RYR2 | GO:0060402 | calcium ion transport into cytosol | 17921453 |
| Tgene | RYR2 | GO:0071313 | cellular response to caffeine | 12919952 |
| Tgene | RYR2 | GO:0072599 | establishment of protein localization to endoplasmic reticulum | 12443530 |
| Tgene | RYR2 | GO:1901896 | positive regulation of calcium-transporting ATPase activity | 12443530 |
| 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 |
| ChiTaRS3.1 | BX479190 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - | ||
| ChiTaRS3.1 | BX479192 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| * 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 |
| intron-intron | ENST00000371191 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371191 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371191 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371191 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000407417 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000407417 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000407417 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000407417 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000479364 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000479364 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000479364 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000479364 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371189 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371189 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371189 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371189 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000403491 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000403491 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000403491 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000403491 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371187 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371187 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371187 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371187 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000485903 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000485903 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000485903 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000485903 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371185 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371185 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371185 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371185 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371184 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371184 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371184 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000371184 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000357977 | ENST00000366574 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000357977 | ENST00000360064 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000357977 | ENST00000542537 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
| intron-intron | ENST00000357977 | ENST00000609119 | NFIA | chr1 | 61717886 | + | RYR2 | chr1 | 237928095 | - |
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FusionProtFeatures for NFIA_RYR2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NFIA | RYR2 |
| Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and inthe origin of replication of adenovirus type 2. These proteins areindividually capable of activating transcription and replication. | Calcium channel that mediates the release of Ca(2+) fromthe sarcoplasmic reticulum into the cytoplasm and thereby plays akey role in triggering cardiac muscle contraction. Aberrantchannel activation can lead to cardiac arrhythmia. In cardiacmyocytes, calcium release is triggered by increased Ca(2+) levelsdue to activation of the L-type calcium channel CACNA1C. Thecalcium channel activity is modulated by formation ofheterotetramers with RYR3. Required for cellular calcium ionhomeostasis. Required for embryonic heart development.{ECO:0000269|PubMed:10830164, ECO:0000269|PubMed:20056922,ECO:0000269|PubMed:27733687}. |
| 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 NFIA_RYR2 |
| 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 NFIA_RYR2 |
| 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 |
| - 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 NFIA_RYR2 |
| 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 | RYR2 | Q92736 | DB09085 | Tetracaine | Ryanodine receptor 2 | small molecule | approved|vet_approved |
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RelatedDiseases for NFIA_RYR2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RYR2 | C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | 12 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RYR2 | C0042514 | Tachycardia, Ventricular | 2 | CTD_human;HPO |
| Tgene | RYR2 | C1832931 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 | 2 | CTD_human;UNIPROT |
| Tgene | RYR2 | C0039231 | Tachycardia | 1 | CTD_human |
| Tgene | RYR2 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| Tgene | RYR2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Tgene | RYR2 | C0853897 | Diabetic Cardiomyopathies | 1 | CTD_human |
| Tgene | RYR2 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
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