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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:REL-MVP

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: REL-MVP
FusionPDB ID: 73448
FusionGDB2.0 ID: 73448
HgeneTgene
Gene symbol

REL

MVP

Gene ID

5966

9961

Gene nameREL proto-oncogene, NF-kB subunitmajor vault protein
SynonymsC-RelLRP|VAULT1
Cytomap

2p16.1

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionproto-oncogene c-Reloncogene REL, avian reticuloendotheliosisv-rel avian reticuloendotheliosis viral oncogene homologmajor vault proteinlung resistance-related proteintesticular secretory protein Li 30
Modification date2020032720200313
UniProtAcc

RELL2

Q14764

Ensembl transtripts involved in fusion geneENST idsENST00000295025, ENST00000394479, 
ENST00000395353, ENST00000452209, 
ENST00000566554, ENST00000357402, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 6 X 4=12014 X 16 X 6=1344
# samples 716
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/1344*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: REL [Title/Abstract] AND MVP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)REL(61144152)-MVP(29847025), # samples:3
Anticipated loss of major functional domain due to fusion event.REL-MVP 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.
REL-MVP 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
HgeneREL

GO:0010629

negative regulation of gene expression

22065573

HgeneREL

GO:0032688

negative regulation of interferon-beta production

22065573

HgeneREL

GO:0045944

positive regulation of transcription by RNA polymerase II

1406630

TgeneMVP

GO:0023057

negative regulation of signaling

16441665

TgeneMVP

GO:0031953

negative regulation of protein autophosphorylation

16441665

TgeneMVP

GO:0038127

ERBB signaling pathway

15133037

TgeneMVP

GO:0061099

negative regulation of protein tyrosine kinase activity

16441665


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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4LUADTCGA-49-6743-01ARELchr2

61144152

-MVPchr16

29847025

+
ChimerDB4LUADTCGA-49-6743-01ARELchr2

61144152

+MVPchr16

29847025

+
ChimerDB4LUADTCGA-49-6743RELchr2

61144152

+MVPchr16

29847024

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000295025RELchr261144152+ENST00000357402MVPchr1629847025+30058552542959901
ENST00000394479RELchr261144152+ENST00000357402MVPchr1629847025+28707201192824901
ENST00000295025RELchr261144152+ENST00000357402MVPchr1629847024+30058552542959901
ENST00000394479RELchr261144152+ENST00000357402MVPchr1629847024+28707201192824901

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
ENST00000295025ENST00000357402RELchr261144152+MVPchr1629847025+0.0047200310.99528
ENST00000394479ENST00000357402RELchr261144152+MVPchr1629847025+0.0044115470.9955884
ENST00000295025ENST00000357402RELchr261144152+MVPchr1629847024+0.0047200310.99528
ENST00000394479ENST00000357402RELchr261144152+MVPchr1629847024+0.0044115470.9955884

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>73448_73448_1_REL-MVP_REL_chr2_61144152_ENST00000295025_MVP_chr16_29847024_ENST00000357402_length(amino acids)=901AA_BP=201
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNREEWLVTTVGAYLPAVFEEVLDLVDAVILTEKTALHLRARRNFRDFRGVSRRTGEEWLVTVQDTEAHVPD
VHEEVLGVVPITTLGPHNYCVILDPVGPDGKNQLGQKRVVKGEKSFFLQPGEQLEQGIQDVYVLSEQQGLLLRALQPLEEGEDEEKVSHQ
AGDHWLIRGPLEYVPSAKVEVVEERQAIPLDENEGIYVQDVKTGKVRAVIGSTYMLTQDEVLWEKELPPGVEELLNKGQDPLADRGEKDT
AKSLQPLAPRNKTRVVSYRVPHNAAVQVYDYREKRARVVFGPELVSLGPEEQFTVLSLSAGRPKRPHARRALCLLLGPDFFTDVITIETA
DHARLQLQLAYNWHFEVNDRKDPQETAKLFSVPDFVGDACKAIASRVRGAVASVTFDDFHKNSARIIRTAVFGFETSEAKGPDGMALPRP
RDQAVFPQNGLVVSSVDVQSVEPVDQRTRDALQRSVQLAIEITTNSQEAAAKHEAQRLEQEARGRLERQKILDQSEAEKARKELLELEAL
SMAVESTGTAKAEAESRAEAARIEGEGSVLQAKLKAQALAIETEAELQRVQKVRELELVYARAQLELEVSKAQQLAEVEVKKFKQMTEAI
GPSTIRDLAVAGPEMQVKLLQSLGLKSTLITDGSTPINLFNTAFGLLGMGPEGQPLGRRVASGPSPGEGISPQSAQAPQAPGDNHVVPVL

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

>73448_73448_2_REL-MVP_REL_chr2_61144152_ENST00000295025_MVP_chr16_29847025_ENST00000357402_length(amino acids)=901AA_BP=201
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNREEWLVTTVGAYLPAVFEEVLDLVDAVILTEKTALHLRARRNFRDFRGVSRRTGEEWLVTVQDTEAHVPD
VHEEVLGVVPITTLGPHNYCVILDPVGPDGKNQLGQKRVVKGEKSFFLQPGEQLEQGIQDVYVLSEQQGLLLRALQPLEEGEDEEKVSHQ
AGDHWLIRGPLEYVPSAKVEVVEERQAIPLDENEGIYVQDVKTGKVRAVIGSTYMLTQDEVLWEKELPPGVEELLNKGQDPLADRGEKDT
AKSLQPLAPRNKTRVVSYRVPHNAAVQVYDYREKRARVVFGPELVSLGPEEQFTVLSLSAGRPKRPHARRALCLLLGPDFFTDVITIETA
DHARLQLQLAYNWHFEVNDRKDPQETAKLFSVPDFVGDACKAIASRVRGAVASVTFDDFHKNSARIIRTAVFGFETSEAKGPDGMALPRP
RDQAVFPQNGLVVSSVDVQSVEPVDQRTRDALQRSVQLAIEITTNSQEAAAKHEAQRLEQEARGRLERQKILDQSEAEKARKELLELEAL
SMAVESTGTAKAEAESRAEAARIEGEGSVLQAKLKAQALAIETEAELQRVQKVRELELVYARAQLELEVSKAQQLAEVEVKKFKQMTEAI
GPSTIRDLAVAGPEMQVKLLQSLGLKSTLITDGSTPINLFNTAFGLLGMGPEGQPLGRRVASGPSPGEGISPQSAQAPQAPGDNHVVPVL

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

>73448_73448_3_REL-MVP_REL_chr2_61144152_ENST00000394479_MVP_chr16_29847024_ENST00000357402_length(amino acids)=901AA_BP=201
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNREEWLVTTVGAYLPAVFEEVLDLVDAVILTEKTALHLRARRNFRDFRGVSRRTGEEWLVTVQDTEAHVPD
VHEEVLGVVPITTLGPHNYCVILDPVGPDGKNQLGQKRVVKGEKSFFLQPGEQLEQGIQDVYVLSEQQGLLLRALQPLEEGEDEEKVSHQ
AGDHWLIRGPLEYVPSAKVEVVEERQAIPLDENEGIYVQDVKTGKVRAVIGSTYMLTQDEVLWEKELPPGVEELLNKGQDPLADRGEKDT
AKSLQPLAPRNKTRVVSYRVPHNAAVQVYDYREKRARVVFGPELVSLGPEEQFTVLSLSAGRPKRPHARRALCLLLGPDFFTDVITIETA
DHARLQLQLAYNWHFEVNDRKDPQETAKLFSVPDFVGDACKAIASRVRGAVASVTFDDFHKNSARIIRTAVFGFETSEAKGPDGMALPRP
RDQAVFPQNGLVVSSVDVQSVEPVDQRTRDALQRSVQLAIEITTNSQEAAAKHEAQRLEQEARGRLERQKILDQSEAEKARKELLELEAL
SMAVESTGTAKAEAESRAEAARIEGEGSVLQAKLKAQALAIETEAELQRVQKVRELELVYARAQLELEVSKAQQLAEVEVKKFKQMTEAI
GPSTIRDLAVAGPEMQVKLLQSLGLKSTLITDGSTPINLFNTAFGLLGMGPEGQPLGRRVASGPSPGEGISPQSAQAPQAPGDNHVVPVL

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

>73448_73448_4_REL-MVP_REL_chr2_61144152_ENST00000394479_MVP_chr16_29847025_ENST00000357402_length(amino acids)=901AA_BP=201
MTAAASGQDAGSCLREGAGSGAMASGAYNPYIEIIEQPRQRGMRFRYKCEGRSAGSIPGEHSTDNNRTYPSIQIMNYYGKGKVRITLVTK
NDPYKPHPHDLVGKDCRDGYYEAEFGQERRPLFFQNLGIRCVKKKEVKEAIITRIKAGINPFNVPEKQLNDIEDCDLNVVRLCFQVFLPD
EHGNLTTALPPVVSNPIYDNREEWLVTTVGAYLPAVFEEVLDLVDAVILTEKTALHLRARRNFRDFRGVSRRTGEEWLVTVQDTEAHVPD
VHEEVLGVVPITTLGPHNYCVILDPVGPDGKNQLGQKRVVKGEKSFFLQPGEQLEQGIQDVYVLSEQQGLLLRALQPLEEGEDEEKVSHQ
AGDHWLIRGPLEYVPSAKVEVVEERQAIPLDENEGIYVQDVKTGKVRAVIGSTYMLTQDEVLWEKELPPGVEELLNKGQDPLADRGEKDT
AKSLQPLAPRNKTRVVSYRVPHNAAVQVYDYREKRARVVFGPELVSLGPEEQFTVLSLSAGRPKRPHARRALCLLLGPDFFTDVITIETA
DHARLQLQLAYNWHFEVNDRKDPQETAKLFSVPDFVGDACKAIASRVRGAVASVTFDDFHKNSARIIRTAVFGFETSEAKGPDGMALPRP
RDQAVFPQNGLVVSSVDVQSVEPVDQRTRDALQRSVQLAIEITTNSQEAAAKHEAQRLEQEARGRLERQKILDQSEAEKARKELLELEAL
SMAVESTGTAKAEAESRAEAARIEGEGSVLQAKLKAQALAIETEAELQRVQKVRELELVYARAQLELEVSKAQQLAEVEVKKFKQMTEAI
GPSTIRDLAVAGPEMQVKLLQSLGLKSTLITDGSTPINLFNTAFGLLGMGPEGQPLGRRVASGPSPGEGISPQSAQAPQAPGDNHVVPVL

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

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Fusion Protein Functional Features


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/chr2:61144152/chr16:29847025)
- 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
REL

RELL2

MVP

Q14764

303FUNCTION: Required for normal vault structure. Vaults are multi-subunit structures that may act as scaffolds for proteins involved in signal transduction. Vaults may also play a role in nucleo-cytoplasmic transport. Down-regulates IFNG-mediated STAT1 signaling and subsequent activation of JAK. Down-regulates SRC activity and signaling through MAP kinases. {ECO:0000269|PubMed:15133037, ECO:0000269|PubMed:16418217, ECO:0000269|PubMed:16441665}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415218_272192.33333333333334894.0RepeatNote=MVP 5
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415273_323192.33333333333334894.0RepeatNote=MVP 6
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415324_379192.33333333333334894.0RepeatNote=MVP 7
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415380_457192.33333333333334894.0RepeatNote=MVP 8
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415458_520192.33333333333334894.0RepeatNote=MVP 9
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415218_272192.33333333333334894.0RepeatNote=MVP 5
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415273_323192.33333333333334894.0RepeatNote=MVP 6
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415324_379192.33333333333334894.0RepeatNote=MVP 7
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415380_457192.33333333333334894.0RepeatNote=MVP 8
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415458_520192.33333333333334894.0RepeatNote=MVP 9
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415218_272192.33333333333334894.0RepeatNote=MVP 5
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415273_323192.33333333333334894.0RepeatNote=MVP 6
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415324_379192.33333333333334894.0RepeatNote=MVP 7
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415380_457192.33333333333334894.0RepeatNote=MVP 8
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415458_520192.33333333333334894.0RepeatNote=MVP 9
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415218_272192.33333333333334894.0RepeatNote=MVP 5
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415273_323192.33333333333334894.0RepeatNote=MVP 6
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415324_379192.33333333333334894.0RepeatNote=MVP 7
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415380_457192.33333333333334894.0RepeatNote=MVP 8
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415458_520192.33333333333334894.0RepeatNote=MVP 9

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRELchr2:61144152chr16:29847024ENST00000295025+5118_297178.33333333333334620.0DomainRHD
HgeneRELchr2:61144152chr16:29847025ENST00000295025+5118_297178.33333333333334620.0DomainRHD
HgeneRELchr2:61144152chr16:29847024ENST00000295025+511290_295178.33333333333334620.0MotifNuclear localization signal
HgeneRELchr2:61144152chr16:29847025ENST00000295025+511290_295178.33333333333334620.0MotifNuclear localization signal
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415112_164192.33333333333334894.0RepeatNote=MVP 3
TgeneMVPchr2:61144152chr16:29847024ENST00000357402415165_217192.33333333333334894.0RepeatNote=MVP 4
TgeneMVPchr2:61144152chr16:29847024ENST000003574024152_56192.33333333333334894.0RepeatNote=MVP 1
TgeneMVPchr2:61144152chr16:29847024ENST0000035740241557_111192.33333333333334894.0RepeatNote=MVP 2
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415112_164192.33333333333334894.0RepeatNote=MVP 3
TgeneMVPchr2:61144152chr16:29847024ENST00000395353415165_217192.33333333333334894.0RepeatNote=MVP 4
TgeneMVPchr2:61144152chr16:29847024ENST000003953534152_56192.33333333333334894.0RepeatNote=MVP 1
TgeneMVPchr2:61144152chr16:29847024ENST0000039535341557_111192.33333333333334894.0RepeatNote=MVP 2
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415112_164192.33333333333334894.0RepeatNote=MVP 3
TgeneMVPchr2:61144152chr16:29847025ENST00000357402415165_217192.33333333333334894.0RepeatNote=MVP 4
TgeneMVPchr2:61144152chr16:29847025ENST000003574024152_56192.33333333333334894.0RepeatNote=MVP 1
TgeneMVPchr2:61144152chr16:29847025ENST0000035740241557_111192.33333333333334894.0RepeatNote=MVP 2
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415112_164192.33333333333334894.0RepeatNote=MVP 3
TgeneMVPchr2:61144152chr16:29847025ENST00000395353415165_217192.33333333333334894.0RepeatNote=MVP 4
TgeneMVPchr2:61144152chr16:29847025ENST000003953534152_56192.33333333333334894.0RepeatNote=MVP 1
TgeneMVPchr2:61144152chr16:29847025ENST0000039535341557_111192.33333333333334894.0RepeatNote=MVP 2


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
REL
MVP


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to REL-MVP


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to REL-MVP


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource