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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GPS1-BLVRA (FusionGDB2 ID:34385)

Fusion Gene Summary for GPS1-BLVRA

check button Fusion gene summary
Fusion gene informationFusion gene name: GPS1-BLVRA
Fusion gene ID: 34385
HgeneTgene
Gene symbol

GPS1

BLVRA

Gene ID

2873

644

Gene nameG protein pathway suppressor 1biliverdin reductase A
SynonymsCOPS1|CSN1|SGN1BLVR|BVR|BVRA
Cytomap

17q25.3

7p13

Type of geneprotein-codingprotein-coding
DescriptionCOP9 signalosome complex subunit 1JAB1-containing signalosome subunit 1biliverdin reductase ABVR Abiliverdin-IX alpha-reductasetestis tissue sperm-binding protein Li 61n
Modification date2020032720200329
UniProtAcc

Q13098

P53004

Ensembl transtripts involved in fusion geneENST00000583983, ENST00000578552, 
ENST00000320548, ENST00000355130, 
ENST00000306823, ENST00000392358, 
ENST00000265523, ENST00000402924, 
Fusion gene scores* DoF score5 X 6 X 3=905 X 7 X 5=175
# samples 48
** MAII scorelog2(4/90*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GPS1 [Title/Abstract] AND BLVRA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGPS1(80009840)-BLVRA(43840064), # samples:3
Anticipated loss of major functional domain due to fusion event.GPS1-BLVRA seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
GPS1-BLVRA seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
GPS1-BLVRA seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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
HgeneGPS1

GO:0000338

protein deneddylation

19141280

TgeneBLVRA

GO:0055114

oxidation-reduction process

10858451


check buttonFusion gene breakpoints across GPS1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BLVRA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-AJ-A3BF-01AGPS1chr17

80009840

+BLVRAchr7

43840064

+
ChimerDB4UCECTCGA-AJ-A3BFGPS1chr17

80009840

+BLVRAchr7

43840063

+
ChimerDB4UCECTCGA-AJ-A3BF-01AGPS1chr17

80009840

+BLVRAchr7

43840064

+
ChimerDB4UCECTCGA-AJ-A3BF-01AGPS1chr17

80011242

+BLVRAchr7

43840064

+
ChimerDB4UCECTCGA-AJ-A3BF-01AGPS1chr17

80009840

-BLVRAchr7

43840064

+


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Fusion Gene ORF analysis for GPS1-BLVRA

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
intron-3CDSENST00000583983ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840064

+
intron-3CDSENST00000583983ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840064

+
Frame-shiftENST00000578552ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840064

+
Frame-shiftENST00000578552ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840064

+
5UTR-3CDSENST00000320548ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840064

+
5UTR-3CDSENST00000320548ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840064

+
5UTR-3CDSENST00000355130ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840064

+
5UTR-3CDSENST00000355130ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840064

+
Frame-shiftENST00000306823ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840064

+
Frame-shiftENST00000306823ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840064

+
5UTR-3CDSENST00000392358ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840064

+
5UTR-3CDSENST00000392358ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840064

+
intron-3CDSENST00000583983ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840063

+
intron-3CDSENST00000583983ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840063

+
Frame-shiftENST00000578552ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840063

+
Frame-shiftENST00000578552ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840063

+
5UTR-3CDSENST00000320548ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840063

+
5UTR-3CDSENST00000320548ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840063

+
5UTR-3CDSENST00000355130ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840063

+
5UTR-3CDSENST00000355130ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840063

+
Frame-shiftENST00000306823ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840063

+
Frame-shiftENST00000306823ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840063

+
5UTR-3CDSENST00000392358ENST00000265523GPS1chr17

80009840

+BLVRAchr7

43840063

+
5UTR-3CDSENST00000392358ENST00000402924GPS1chr17

80009840

+BLVRAchr7

43840063

+
intron-3CDSENST00000583983ENST00000265523GPS1chr17

80011242

+BLVRAchr7

43840064

+
intron-3CDSENST00000583983ENST00000402924GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000578552ENST00000265523GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000578552ENST00000402924GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000320548ENST00000265523GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000320548ENST00000402924GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000355130ENST00000265523GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000355130ENST00000402924GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000306823ENST00000265523GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000306823ENST00000402924GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000392358ENST00000265523GPS1chr17

80011242

+BLVRAchr7

43840064

+
Frame-shiftENST00000392358ENST00000402924GPS1chr17

80011242

+BLVRAchr7

43840064

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for GPS1-BLVRA


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
GPS1chr1780011242+BLVRAchr743840063+0.0278780980.9721219
GPS1chr1780009840+BLVRAchr743840063+0.0044824440.99551755
GPS1chr1780009840+BLVRAchr743840063+0.0044824440.99551755
GPS1chr1780011242+BLVRAchr743840063+0.0278780980.9721219
GPS1chr1780009840+BLVRAchr743840063+0.0044824440.99551755
GPS1chr1780009840+BLVRAchr743840063+0.0044824440.99551755

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for GPS1-BLVRA


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GPS1

Q13098

BLVRA

P53004

FUNCTION: Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Suppresses G-protein- and mitogen-activated protein kinase-mediated signal transduction. {ECO:0000269|PubMed:11285227, ECO:0000269|PubMed:11337588, ECO:0000269|PubMed:12628923, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:9535219}.FUNCTION: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.

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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Fusion Gene Sequence for GPS1-BLVRA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for GPS1-BLVRA


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


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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Related Drugs for GPS1-BLVRA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBLVRAP53004DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneBLVRAP53004DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneBLVRAP53004DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for GPS1-BLVRA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGPS1C0036341Schizophrenia1PSYGENET
TgeneBLVRAC0008370Cholestasis1CTD_human
TgeneBLVRAC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneBLVRAC3279964Hyperbiliverdinemia1CTD_human;ORPHANET