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Fusion gene ID: 4614 |
FusionGeneSummary for C10orf76_PRKG1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: C10orf76_PRKG1 | Fusion gene ID: 4614 | Hgene | Tgene | Gene symbol | C10orf76 | PRKG1 | Gene ID | 5592 |
Gene name | protein kinase cGMP-dependent 1 | ||
Synonyms | AAT8|PKG|PKG1|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha | ||
Cytomap | 10q11.23-q21.1 | ||
Type of gene | protein-coding | ||
Description | cGMP-dependent protein kinase 1protein kinase, cGMP-dependent, regulatory, type I, betaprotein kinase, cGMP-dependent, type I | ||
Modification date | 20180524 | ||
UniProtAcc | Q13976 | ||
Ensembl transtripts involved in fusion gene | ENST00000370033, ENST00000311122, ENST00000495001, | ENST00000401604, ENST00000373985, ENST00000373980, ENST00000373975, | |
Fusion gene scores | * DoF score | 3 X 3 X 4=36 | 4 X 4 X 4=64 |
# samples | 4 | 4 | |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C10orf76 [Title/Abstract] AND PRKG1 [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 |
Tgene | PRKG1 | GO:0006468 | protein phosphorylation | 15905169 |
Tgene | PRKG1 | GO:1904706 | negative regulation of vascular smooth muscle cell proliferation | 25447536 |
Tgene | PRKG1 | GO:1904753 | negative regulation of vascular associated smooth muscle cell migration | 25447536 |
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 | LD | BRCA | TCGA-E9-A248-01A | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
* 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 |
5UTR-3CDS | ENST00000370033 | ENST00000401604 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000370033 | ENST00000373985 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000370033 | ENST00000373980 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000370033 | ENST00000373975 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000311122 | ENST00000401604 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000311122 | ENST00000373985 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000311122 | ENST00000373980 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
5UTR-3CDS | ENST00000311122 | ENST00000373975 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
intron-3CDS | ENST00000495001 | ENST00000401604 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
intron-3CDS | ENST00000495001 | ENST00000373985 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
intron-3CDS | ENST00000495001 | ENST00000373980 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
intron-3CDS | ENST00000495001 | ENST00000373975 | C10orf76 | chr10 | 103815842 | - | PRKG1 | chr10 | 54031110 | + |
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FusionProtFeatures for C10orf76_PRKG1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
C10orf76 | PRKG1 |
Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. | Serine/threonine protein kinase that acts as keymediator of the nitric oxide (NO)/cGMP signaling pathway. GMPbinding activates PRKG1, which phosphorylates serines andthreonines on many cellular proteins. Numerous protein targets forPRKG1 phosphorylation are implicated in modulating cellularcalcium, but the contribution of each of these targets may varysubstantially among cell types. Proteins that are phosphorylatedby PRKG1 regulate platelet activation and adhesion, smooth musclecontraction, cardiac function, gene expression, feedback of theNO-signaling pathway, and other processes involved in severalaspects of the CNS like axon guidance, hippocampal and cerebellarlearning, circadian rhythm and nociception. Smooth musclerelaxation is mediated through lowering of intracellular freecalcium, by desensitization of contractile proteins to calcium,and by decrease in the contractile state of smooth muscle or inplatelet activation. Regulates intracellular calcium levels viaseveral pathways: phosphorylates MRVI1/IRAG and inhibits IP3-induced Ca(2+) release from intracellular stores, phosphorylationof KCNMA1 (BKCa) channels decreases intracellular Ca(2+) levels,which leads to increased opening of this channel. PRKG1phosphorylates the canonical transient receptor potential channel(TRPC) family which inactivates the associated inward calciumcurrent. Another mode of action of NO/cGMP/PKGI signaling involvesPKGI-mediated inactivation of the Ras homolog gene family member A(RhoA). Phosphorylation of RHOA by PRKG1 blocks the action of thisprotein in myriad processes: regulation of RHOA translocation;decreasing contraction; controlling vesicle trafficking, reductionof myosin light chain phosphorylation resulting in vasorelaxation.Activation of PRKG1 by NO signaling alters also gene expression ina number of tissues. In smooth muscle cells, increased cGMP andPRKG1 activity influence expression of smooth muscle-specificcontractile proteins, levels of proteins in the NO/cGMP signalingpathway, down-regulation of the matrix proteins osteopontin andthrombospondin-1 to limit smooth muscle cell migration andphenotype. Regulates vasodilator-stimulated phosphoprotein (VASP)functions in platelets and smooth muscle.{ECO:0000269|PubMed:10567269, ECO:0000269|PubMed:11162591,ECO:0000269|PubMed:11723116, ECO:0000269|PubMed:12082086,ECO:0000269|PubMed:14608379, ECO:0000269|PubMed:15194681,ECO:0000269|PubMed:16990611, ECO:0000269|PubMed:8182057}. |
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 C10orf76_PRKG1 |
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 C10orf76_PRKG1 |
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 |
C10orf76 | SHMT2, MOV10, NXF1, TTC27, CLASP2, PTPN23, UBAP1, TSSC1, PTAR1, COG8, RIC1, COG3, COG7, VPS53, SECISBP2L, USP8, COG6, TRAPPC13, VPS54, PI4KB, TRIM25 | PRKG1 | NPR1, RGS2, MRVI1, ITPR1, PPP1R12B, PPP1R12A, RAF1, GTF2I, TNNT1, HDAC1, TRIM39-RPP21, SELL, CREB1, ANXA7, TBXA2R, HECW2, LMO2, ZNF646, FAM124A, WDR77, AR, PTK2, ZKSCAN1, OAS2, CORO2B, PSMC5 |
- 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 C10orf76_PRKG1 |
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 C10orf76_PRKG1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PRKG1 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
Tgene | PRKG1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Tgene | PRKG1 | C0036920 | Sezary Syndrome | 1 | CTD_human |
Tgene | PRKG1 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Tgene | PRKG1 | C3809513 | AORTIC ANEURYSM, FAMILIAL THORACIC 8 | 1 | UNIPROT |