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Fusion gene ID: 6920 |
FusionGeneSummary for CGA_PSMC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CGA_PSMC2 | Fusion gene ID: 6920 | Hgene | Tgene | Gene symbol | CGA | PSMC2 | Gene ID | 1113 | 5701 |
| Gene name | chromogranin A | proteasome 26S subunit, ATPase 2 | |
| Synonyms | CGA | MSS1|Nbla10058|S7 | |
| Cytomap | 14q32.12 | 7q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | chromogranin-ASP-Ibetagranin (N-terminal fragment of chromogranin A)catestatinchromofunginparathyroid secretory protein 1pituitary secretory protein I | 26S proteasome regulatory subunit 726S protease regulatory subunit 726S proteasome AAA-ATPase subunit RPT1mammalian suppressor of sgv-1 of yeastprotease 26S subunit 7proteasome (prosome, macropain) 26S subunit, ATPase, 2putative protein product of N | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P01215 | P35998 | |
| Ensembl transtripts involved in fusion gene | ENST00000369582, | ENST00000435765, ENST00000292644, ENST00000544811, | |
| Fusion gene scores | * DoF score | 8 X 8 X 1=64 | 5 X 5 X 2=50 |
| # samples | 9 | 5 | |
| ** MAII score | log2(9/64*10)=0.491853096329675 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/50*10)=0 | |
| Context | PubMed: CGA [Title/Abstract] AND PSMC2 [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 | CGA | GO:0002551 | mast cell chemotaxis | 21214543 |
| Hgene | CGA | GO:0032762 | mast cell cytokine production | 21214543 |
| Hgene | CGA | GO:0033604 | negative regulation of catecholamine secretion | 15326220 |
| Hgene | CGA | GO:0043303 | mast cell degranulation | 21214543 |
| Hgene | CGA | GO:0045576 | mast cell activation | 21214543 |
| Hgene | CGA | GO:0050829 | defense response to Gram-negative bacterium | 15723172 |
| Hgene | CGA | GO:0050830 | defense response to Gram-positive bacterium | 15723172 |
| Tgene | PSMC2 | GO:0006511 | ubiquitin-dependent protein catabolic process | 9295362 |
| 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 | BF985831 | CGA | chr6 | 87795497 | + | PSMC2 | chr7 | 103008562 | - |
| * 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-3UTR | ENST00000369582 | ENST00000435765 | CGA | chr6 | 87795497 | + | PSMC2 | chr7 | 103008562 | - |
| intron-3UTR | ENST00000369582 | ENST00000292644 | CGA | chr6 | 87795497 | + | PSMC2 | chr7 | 103008562 | - |
| intron-3UTR | ENST00000369582 | ENST00000544811 | CGA | chr6 | 87795497 | + | PSMC2 | chr7 | 103008562 | - |
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FusionProtFeatures for CGA_PSMC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CGA | PSMC2 |
| Shared alpha chain of the active heterodimericglycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH,lutropin/luteinizing hormone/LH, follitropin/follicle stimulatinghormone/FSH and choriogonadotropin/CG. These hormones bindspecific receptors on target cells that in turn activatedownstream signaling pathways. {ECO:0000269|PubMed:24692546,ECO:0000269|PubMed:2494176}. | Component of the 26S proteasome, a multiprotein complexinvolved in the ATP-dependent degradation of ubiquitinatedproteins. This complex plays a key role in the maintenance ofprotein homeostasis by removing misfolded or damaged proteins,which could impair cellular functions, and by removing proteinswhose functions are no longer required. Therefore, the proteasomeparticipates in numerous cellular processes, including cell cycleprogression, apoptosis, or DNA damage repair. PSMC2 belongs to theheterohexameric ring of AAA (ATPases associated with diversecellular activities) proteins that unfolds ubiquitinated targetproteins that are concurrently translocated into a proteolyticchamber and degraded into peptides. {ECO:0000269|PubMed:1317798,ECO:0000269|PubMed:9295362}. |
| 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 CGA_PSMC2 |
| 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 CGA_PSMC2 |
| 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 CGA_PSMC2 |
| 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 CGA_PSMC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CGA | C0001621 | Adrenal Gland Diseases | 1 | CTD_human |
| Hgene | CGA | C0018991 | Hemiplegia | 1 | CTD_human |
| Hgene | CGA | C0028960 | Oligospermia | 1 | CTD_human |
| Hgene | CGA | C0029928 | Ovarian Diseases | 1 | CTD_human |
| Hgene | CGA | C0042131 | Uterine Diseases | 1 | CTD_human |
| Hgene | CGA | C2931367 | Thyroid cancer, follicular | 1 | CTD_human |
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