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Fusion gene ID: 3321 |
FusionGeneSummary for ATP1B2_SNCB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP1B2_SNCB | Fusion gene ID: 3321 | Hgene | Tgene | Gene symbol | ATP1B2 | SNCB | Gene ID | 482 | 6620 |
| Gene name | ATPase Na+/K+ transporting subunit beta 2 | synuclein beta | |
| Synonyms | AMOG | - | |
| Cytomap | 17p13.1 | 5q35.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sodium/potassium-transporting ATPase subunit beta-2ATPase, Na+/K+ transporting, beta 2 polypeptideNa, K-ATPase beta-2 polypeptideadhesion molecule in gliaadhesion molecule on gliasodium pump subunit beta-2sodium-potassium ATPase subunit beta 2 (non- | beta-synucleinI(2)-synuclein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P14415 | Q16143 | |
| Ensembl transtripts involved in fusion gene | ENST00000250111, | ENST00000310112, ENST00000393693, ENST00000510387, ENST00000506696, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ATP1B2 [Title/Abstract] AND SNCB [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 | ATP1B2 | GO:0006883 | cellular sodium ion homeostasis | 10636900|19542013 |
| Hgene | ATP1B2 | GO:0010107 | potassium ion import | 10636900|19542013 |
| Hgene | ATP1B2 | GO:0030007 | cellular potassium ion homeostasis | 10636900|19542013 |
| Hgene | ATP1B2 | GO:0032781 | positive regulation of ATPase activity | 10636900 |
| Hgene | ATP1B2 | GO:0036376 | sodium ion export across plasma membrane | 10636900|19542013 |
| Hgene | ATP1B2 | GO:0050821 | protein stabilization | 10636900 |
| Hgene | ATP1B2 | GO:0086009 | membrane repolarization | 19542013 |
| Hgene | ATP1B2 | GO:1901018 | positive regulation of potassium ion transmembrane transporter activity | 10636900 |
| Hgene | ATP1B2 | GO:1903278 | positive regulation of sodium ion export across plasma membrane | 10636900 |
| Hgene | ATP1B2 | GO:1903288 | positive regulation of potassium ion import | 10636900 |
| 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 | BM702669 | ATP1B2 | chr17 | 7560616 | + | SNCB | chr5 | 176057310 | - |
| * 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 |
| 3UTR-5UTR | ENST00000250111 | ENST00000310112 | ATP1B2 | chr17 | 7560616 | + | SNCB | chr5 | 176057310 | - |
| 3UTR-5UTR | ENST00000250111 | ENST00000393693 | ATP1B2 | chr17 | 7560616 | + | SNCB | chr5 | 176057310 | - |
| 3UTR-intron | ENST00000250111 | ENST00000510387 | ATP1B2 | chr17 | 7560616 | + | SNCB | chr5 | 176057310 | - |
| 3UTR-intron | ENST00000250111 | ENST00000506696 | ATP1B2 | chr17 | 7560616 | + | SNCB | chr5 | 176057310 | - |
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FusionProtFeatures for ATP1B2_SNCB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP1B2 | SNCB |
| This is the non-catalytic component of the activeenzyme, which catalyzes the hydrolysis of ATP coupled with theexchange of Na(+) and K(+) ions across the plasma membrane. Theexact function of the beta-2 subunit is not known. Mediates cell adhesion of neurons and astrocytes, andpromotes neurite outgrowth. {ECO:0000250}. | Non-amyloid component of senile plaques found inAlzheimer disease. Could act as a regulator of SNCA aggregationprocess. Protects neurons from staurosporine and 6-hydroxydopamine (6OHDA)-stimulated caspase activation in a p53/TP53-dependent manner. Contributes to restore the SNCA anti-apoptoticfunction abolished by 6OHDA. Not found in the Lewy bodiesassociated with Parkinson disease. |
| 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 ATP1B2_SNCB |
| 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 ATP1B2_SNCB |
| 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 ATP1B2_SNCB |
| 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 ATP1B2_SNCB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATP1B2 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | ATP1B2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | SNCB | C0036341 | Schizophrenia | 1 | PSYGENET |
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