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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:RPL37A-NDUFV1 (FusionGDB2 ID:HG6168TG4723)

Fusion Gene Summary for RPL37A-NDUFV1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPL37A-NDUFV1
Fusion gene ID: hg6168tg4723
HgeneTgene
Gene symbol

RPL37A

NDUFV1

Gene ID

6168

4723

Gene nameribosomal protein L37aNADH:ubiquinone oxidoreductase core subunit V1
SynonymsL37ACI-51K|CI51KD|MC1DN4|UQOR1
Cytomap('RPL37A')('NDUFV1')

2q35

11q13.2

Type of geneprotein-codingprotein-coding
Description60S ribosomal protein L37alarge ribosomal subunit protein eL43NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialNADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDaNADH-ubiquinone oxidoreductase 51 kDa subunitcomplex I 51 kda subunitcomplex I 51kDa subunitcomplex I, mitochondrial respiratory chainm
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000491306, ENST00000456586, 
ENST00000427280, ENST00000441179, 
ENST00000446558, ENST00000598925, 
ENST00000600880, 
Fusion gene scores* DoF score46 X 15 X 6=414040 X 8 X 17=5440
# samples 4640
** MAII scorelog2(46/4140*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(40/5440*10)=-3.76553474636298
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPL37A [Title/Abstract] AND NDUFV1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRPL37A(217366186)-NDUFV1(67375697), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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


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
ChimerDB4PRADTCGA-KC-A4BL-01ARPL37Achr2

217366186

-NDUFV1chr11

67375697

+


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Fusion Gene ORF analysis for RPL37A-NDUFV1

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
3UTR-intronENST00000491306ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
3UTR-intronENST00000491306ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
3UTR-intronENST00000491306ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
3UTR-intronENST00000491306ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
3UTR-intronENST00000491306ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
5CDS-intronENST00000456586ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
5CDS-intronENST00000456586ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
5CDS-intronENST00000456586ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
5CDS-intronENST00000456586ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
5CDS-intronENST00000456586ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000427280ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000427280ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000427280ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000427280ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000427280ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000441179ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000441179ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000441179ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000441179ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000441179ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000446558ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000446558ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000446558ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000446558ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000446558ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000598925ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000598925ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000598925ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000598925ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000598925ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000600880ENST00000322776RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000600880ENST00000415352RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000600880ENST00000526169RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000600880ENST00000529927RPL37Achr2

217366186

-NDUFV1chr11

67375697

+
intron-intronENST00000600880ENST00000532303RPL37Achr2

217366186

-NDUFV1chr11

67375697

+

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 RPL37A-NDUFV1


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)


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Fusion Protein Features for RPL37A-NDUFV1


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/:217366186/:67375697)
- 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

- 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 RPL37A-NDUFV1


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 RPL37A-NDUFV1


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 RPL37A-NDUFV1


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 RPL37A-NDUFV1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRPL37AC0032460Polycystic Ovary Syndrome1CTD_human
HgeneRPL37AC1136382Sclerocystic Ovaries1CTD_human
TgeneC0023264Leigh Disease10CLINGEN
TgeneC1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY10CLINGEN
TgeneC1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency10CLINGEN
TgeneC1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency10CLINGEN
TgeneC1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency10CLINGEN
TgeneC1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency10CLINGEN
TgeneC2931891Necrotizing encephalopathy, infantile subacute, of Leigh10CLINGEN
TgeneC1838979MITOCHONDRIAL COMPLEX I DEFICIENCY4GENOMICS_ENGLAND;ORPHANET
TgeneC4748753MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 42GENOMICS_ENGLAND;UNIPROT
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0751651Mitochondrial Diseases1GENOMICS_ENGLAND
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human