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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4614

FusionGeneSummary for C10orf76_PRKG1

check button Fusion gene summary
Fusion gene informationFusion gene name: C10orf76_PRKG1
Fusion gene ID: 4614
HgeneTgene
Gene symbol

C10orf76

PRKG1

Gene ID

5592

Gene nameprotein kinase cGMP-dependent 1
SynonymsAAT8|PKG|PKG1|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha
Cytomap

10q11.23-q21.1

Type of geneprotein-coding
DescriptioncGMP-dependent protein kinase 1protein kinase, cGMP-dependent, regulatory, type I, betaprotein kinase, cGMP-dependent, type I
Modification date20180524
UniProtAcc

Q13976

Ensembl transtripts involved in fusion geneENST00000370033, ENST00000311122, 
ENST00000495001, 
ENST00000401604, 
ENST00000373985, ENST00000373980, 
ENST00000373975, 
Fusion gene scores* DoF score3 X 3 X 4=364 X 4 X 4=64
# samples 44
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePRKG1

GO:0006468

protein phosphorylation

15905169

TgenePRKG1

GO:1904706

negative regulation of vascular smooth muscle cell proliferation

25447536

TgenePRKG1

GO:1904753

negative regulation of vascular associated smooth muscle cell migration

25447536


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-E9-A248-01AC10orf76chr10

103815842

-PRKG1chr10

54031110

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000370033ENST00000401604C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000370033ENST00000373985C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000370033ENST00000373980C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000370033ENST00000373975C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000311122ENST00000401604C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000311122ENST00000373985C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000311122ENST00000373980C10orf76chr10

103815842

-PRKG1chr10

54031110

+
5UTR-3CDSENST00000311122ENST00000373975C10orf76chr10

103815842

-PRKG1chr10

54031110

+
intron-3CDSENST00000495001ENST00000401604C10orf76chr10

103815842

-PRKG1chr10

54031110

+
intron-3CDSENST00000495001ENST00000373985C10orf76chr10

103815842

-PRKG1chr10

54031110

+
intron-3CDSENST00000495001ENST00000373980C10orf76chr10

103815842

-PRKG1chr10

54031110

+
intron-3CDSENST00000495001ENST00000373975C10orf76chr10

103815842

-PRKG1chr10

54031110

+

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FusionProtFeatures for C10orf76_PRKG1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C10orf76

PRKG1

Q13976

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for C10orf76_PRKG1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
C10orf76SHMT2, MOV10, NXF1, TTC27, CLASP2, PTPN23, UBAP1, TSSC1, PTAR1, COG8, RIC1, COG3, COG7, VPS53, SECISBP2L, USP8, COG6, TRAPPC13, VPS54, PI4KB, TRIM25PRKG1NPR1, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for C10orf76_PRKG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for C10orf76_PRKG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePRKG1C0020542Pulmonary Hypertension1CTD_human
TgenePRKG1C0032927Precancerous Conditions1CTD_human
TgenePRKG1C0036920Sezary Syndrome1CTD_human
TgenePRKG1C0236733Amphetamine-Related Disorders1CTD_human
TgenePRKG1C3809513AORTIC ANEURYSM, FAMILIAL THORACIC 81UNIPROT