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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:ENPP1-RIPPLY2 (FusionGDB2 ID:HG5167TG134701)

Fusion Gene Summary for ENPP1-RIPPLY2

check button Fusion gene summary
Fusion gene informationFusion gene name: ENPP1-RIPPLY2
Fusion gene ID: hg5167tg134701
HgeneTgene
Gene symbol

ENPP1

RIPPLY2

Gene ID

5167

134701

Gene nameectonucleotide pyrophosphatase/phosphodiesterase 1ripply transcriptional repressor 2
SynonymsARHR2|COLED|M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1C6orf159|SCDO6|dJ237I15.1
Cytomap('ENPP1')('RIPPLY2')

6q23.2

6q14.2

Type of geneprotein-codingprotein-coding
Descriptionectonucleotide pyrophosphatase/phosphodiesterase family member 1E-NPP 1Ly-41 antigenalkaline phosphodiesterase 1membrane component, chromosome 6, surface marker 1phosphodiesterase I/nucleotide pyrophosphatase 1plasma-cell membrane glycoprotein 1plaprotein ripply2ripply2 homolog
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000360971, 
Fusion gene scores* DoF score6 X 6 X 4=1442 X 2 X 2=8
# samples 62
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ENPP1 [Title/Abstract] AND RIPPLY2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointENPP1(132129415)-RIPPLY2(84563816), # samples:2
Anticipated loss of major functional domain due to fusion event.ENPP1-RIPPLY2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ENPP1-RIPPLY2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ENPP1-RIPPLY2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ENPP1-RIPPLY2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneENPP1

GO:0006091

generation of precursor metabolites and energy

12746903

HgeneENPP1

GO:0006796

phosphate-containing compound metabolic process

10513816|11159191

HgeneENPP1

GO:0009143

nucleoside triphosphate catabolic process

10513816

HgeneENPP1

GO:0030308

negative regulation of cell growth

17849011

HgeneENPP1

GO:0030505

inorganic diphosphate transport

10513816

HgeneENPP1

GO:0030643

cellular phosphate ion homeostasis

11159191

HgeneENPP1

GO:0030730

sequestering of triglyceride

17849011

HgeneENPP1

GO:0031953

negative regulation of protein autophosphorylation

11289049

HgeneENPP1

GO:0032869

cellular response to insulin stimulus

7830796|17849011

HgeneENPP1

GO:0045599

negative regulation of fat cell differentiation

17849011

HgeneENPP1

GO:0045719

negative regulation of glycogen biosynthetic process

11289049

HgeneENPP1

GO:0046325

negative regulation of glucose import

17849011

HgeneENPP1

GO:0046627

negative regulation of insulin receptor signaling pathway

7830796|17849011

HgeneENPP1

GO:0050427

3'-phosphoadenosine 5'-phosphosulfate metabolic process

7830796

HgeneENPP1

GO:0090305

nucleic acid phosphodiester bond hydrolysis

22285541


check buttonFusion gene breakpoints across ENPP1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across RIPPLY2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4BRCATCGA-OL-A6VO-01AENPP1chr6

132129415

-RIPPLY2chr6

84563816

+
ChimerDB4BRCATCGA-OL-A6VO-01AENPP1chr6

132129415

+RIPPLY2chr6

84563816

+


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Fusion Gene ORF analysis for ENPP1-RIPPLY2

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
In-frameENST00000360971ENST00000369687ENPP1chr6

132129415

+RIPPLY2chr6

84563816

+
In-frameENST00000360971ENST00000369689ENPP1chr6

132129415

+RIPPLY2chr6

84563816

+

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)
ENST00000360971ENPP1chr6132129415+ENST00000369689RIPPLY2chr684563816+59926020472150
ENST00000360971ENPP1chr6132129415+ENST00000369687RIPPLY2chr684563816+59926020472150

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
ENST00000360971ENST00000369689ENPP1chr6132129415+RIPPLY2chr684563816+0.0084230760.9915769
ENST00000360971ENST00000369687ENPP1chr6132129415+RIPPLY2chr684563816+0.0084230760.9915769

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Fusion Genomic Features for ENPP1-RIPPLY2


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)
ENPP1chr6132129415+RIPPLY2chr684563815+0.0051827210.9948173
ENPP1chr6132129415+RIPPLY2chr684563815+0.0051827210.9948173

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for ENPP1-RIPPLY2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:132129415/chr6:84563816)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+12545_5280926.0MotifDi-leucine motif
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+1251_7680926.0Topological domainCytoplasmic
TgeneRIPPLY2chr6:132129415chr6:84563816ENST000003696870337_40071.0MotifWRPW motif
TgeneRIPPLY2chr6:132129415chr6:84563816ENST000003696870377_112071.0RegionRipply homology domain
TgeneRIPPLY2chr6:132129415chr6:84563816ENST000003696891477_11258129.0RegionRipply homology domain

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+125104_14480926.0DomainSMB 1
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+125145_18980926.0DomainSMB 2
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+125191_59180926.0RegionPhosphodiesterase
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+125597_64780926.0RegionLinker
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+125654_92580926.0RegionNuclease
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+12598_92580926.0Topological domainExtracellular
HgeneENPP1chr6:132129415chr6:84563816ENST00000360971+12577_9780926.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
TgeneRIPPLY2chr6:132129415chr6:84563816ENST000003696891437_4058129.0MotifWRPW motif


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Fusion Gene Sequence for ENPP1-RIPPLY2


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.
>26647_26647_1_ENPP1-RIPPLY2_ENPP1_chr6_132129415_ENST00000360971_RIPPLY2_chr6_84563816_ENST00000369687_length(transcript)=599nt_BP=260nt
CCGGAGCGGCCGGGGCCACGATGGAGCGCGACGGCTGCGCGGGGGGCGGGAGCCGCGGCGGCGAGGGCGGGCGCGCTCCCCGGGAGGGCC
CGGCGGGGAACGGCCGCGATCGGGGCCGCAGCCACGCTGCCGAGGCGCCCGGGGACCCGCAGGCGGCCGCGTCCTTGCTGGCCCCTATGG
ACGTGGGGGAGGAGCCGCTGGAGAAGGCGGCGCGCGCCCGCACTGCCAAGGACCCCAACACCTATAAAGTACTCTCGCTGATGCCCGATG
GCCCTGGAATGACCGCAGCCTCAGGAAAGCTTTACCAATTCAGGCACCCAGTCAGACTATTTTGGCCAAAATCAAAATGTTATGATTACT
TATATCAAGAAGCAGAAGCTCTTCTGAAAAATTTTCCAATTCAAGCCACAATTTCATTTTATGAAGATTCTGATAGCGAAGATGAAATTG
AGGATCTGACCTGTGAAAATTAATCTGATTAGCTACTTTTGATTATATCCAAAGCTTGTGGGGTTTAAATTTAGTGTACAAATGTATCAT

>26647_26647_1_ENPP1-RIPPLY2_ENPP1_chr6_132129415_ENST00000360971_RIPPLY2_chr6_84563816_ENST00000369687_length(amino acids)=150AA_BP=75
MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPLEKAARARTAKDPNTYKVLSLMPDGPGMTAA

--------------------------------------------------------------
>26647_26647_2_ENPP1-RIPPLY2_ENPP1_chr6_132129415_ENST00000360971_RIPPLY2_chr6_84563816_ENST00000369689_length(transcript)=599nt_BP=260nt
CCGGAGCGGCCGGGGCCACGATGGAGCGCGACGGCTGCGCGGGGGGCGGGAGCCGCGGCGGCGAGGGCGGGCGCGCTCCCCGGGAGGGCC
CGGCGGGGAACGGCCGCGATCGGGGCCGCAGCCACGCTGCCGAGGCGCCCGGGGACCCGCAGGCGGCCGCGTCCTTGCTGGCCCCTATGG
ACGTGGGGGAGGAGCCGCTGGAGAAGGCGGCGCGCGCCCGCACTGCCAAGGACCCCAACACCTATAAAGTACTCTCGCTGATGCCCGATG
GCCCTGGAATGACCGCAGCCTCAGGAAAGCTTTACCAATTCAGGCACCCAGTCAGACTATTTTGGCCAAAATCAAAATGTTATGATTACT
TATATCAAGAAGCAGAAGCTCTTCTGAAAAATTTTCCAATTCAAGCCACAATTTCATTTTATGAAGATTCTGATAGCGAAGATGAAATTG
AGGATCTGACCTGTGAAAATTAATCTGATTAGCTACTTTTGATTATATCCAAAGCTTGTGGGGTTTAAATTTAGTGTACAAATGTATCAT

>26647_26647_2_ENPP1-RIPPLY2_ENPP1_chr6_132129415_ENST00000360971_RIPPLY2_chr6_84563816_ENST00000369689_length(amino acids)=150AA_BP=75
MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPLEKAARARTAKDPNTYKVLSLMPDGPGMTAA

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ENPP1-RIPPLY2


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 ENPP1-RIPPLY2


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

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Related Diseases for ENPP1-RIPPLY2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENPP1C4551985ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 17GENOMICS_ENGLAND;UNIPROT
HgeneENPP1C2750078Hypophosphatemic Rickets, Autosomal Recessive, 24CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneENPP1C3809781Cole disease4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneENPP1C0014175Endometriosis1CTD_human
HgeneENPP1C0033847Pseudoxanthoma Elasticum1ORPHANET
HgeneENPP1C0269102Endometrioma1CTD_human
HgeneENPP1C1865343OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE1GENOMICS_ENGLAND;UNIPROT
TgeneC0265343Jarcho-Levin syndrome1ORPHANET
TgeneC4225279SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE1GENOMICS_ENGLAND