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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:PDSS2-LMBRD1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PDSS2-LMBRD1
FusionPDB ID: 64083
FusionGDB2.0 ID: 64083
HgeneTgene
Gene symbol

PDSS2

LMBRD1

Gene ID

57107

55788

Gene namedecaprenyl diphosphate synthase subunit 2LMBR1 domain containing 1
SynonymsC6orf210|COQ10D3|COQ1B|DLP1|bA59I9.3|hDLP1C6orf209|LMBD1|MAHCF|NESI
Cytomap

6q21

6q13

Type of geneprotein-codingprotein-coding
Descriptiondecaprenyl-diphosphate synthase subunit 2all-trans-decaprenyl-diphosphate synthase subunit 2decaprenyl pyrophosphate synthase subunit 2decaprenyl pyrophosphate synthetase subunit 2prenyl (decaprenyl) diphosphate synthase, subunit 2subunit 2 of decaprprobable lysosomal cobalamin transporterHDAg-L-interacting protein NESIhepatitis delta antigen-L interacting proteinliver regeneration p-53 related proteinnuclear export signal-interacting protein
Modification date2020031320200313
UniProtAcc.

Q9NUN5

Ensembl transtripts involved in fusion geneENST idsENST00000369031, ENST00000369037, 
ENST00000453874, 
ENST00000370570, 
ENST00000370577, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 8 X 6=52811 X 9 X 6=594
# samples 1312
** MAII scorelog2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PDSS2 [Title/Abstract] AND LMBRD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PDSS2(107595233)-LMBRD1(70428973), # samples:2
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
HgenePDSS2

GO:0006744

ubiquinone biosynthetic process

16262699

HgenePDSS2

GO:0008299

isoprenoid biosynthetic process

16262699


check buttonFusion gene breakpoints across PDSS2 (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 LMBRD1 (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
ChimerDB4BRCATCGA-E9-A229-01APDSS2chr6

107595233

-LMBRD1chr6

70428973

-


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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)
ENST00000369037PDSS2chr6107595233-ENST00000370577LMBRD1chr670428973-22519082091894561
ENST00000369037PDSS2chr6107595233-ENST00000370570LMBRD1chr670428973-22479082091894561
ENST00000453874PDSS2chr6107595233-ENST00000370577LMBRD1chr670428973-22449012021887561
ENST00000453874PDSS2chr6107595233-ENST00000370570LMBRD1chr670428973-22409012021887561
ENST00000369031PDSS2chr6107595233-ENST00000370577LMBRD1chr670428973-22529092101895561
ENST00000369031PDSS2chr6107595233-ENST00000370570LMBRD1chr670428973-22489092101895561

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
ENST00000369037ENST00000370577PDSS2chr6107595233-LMBRD1chr670428973-0.0015049620.998495
ENST00000369037ENST00000370570PDSS2chr6107595233-LMBRD1chr670428973-0.0015484060.9984516
ENST00000453874ENST00000370577PDSS2chr6107595233-LMBRD1chr670428973-0.0014691460.99853086
ENST00000453874ENST00000370570PDSS2chr6107595233-LMBRD1chr670428973-0.0015148930.99848515
ENST00000369031ENST00000370577PDSS2chr6107595233-LMBRD1chr670428973-0.0015328190.99846715
ENST00000369031ENST00000370570PDSS2chr6107595233-LMBRD1chr670428973-0.0015771540.99842286

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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

>64083_64083_1_PDSS2-LMBRD1_PDSS2_chr6_107595233_ENST00000369031_LMBRD1_chr6_70428973_ENST00000370570_length(amino acids)=561AA_BP=233
MPLVCFPRHFWIPPGPRPFQTQTMNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFM
SLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHI
ALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQ
TIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDS
GFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIY
SLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKS

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

>64083_64083_2_PDSS2-LMBRD1_PDSS2_chr6_107595233_ENST00000369031_LMBRD1_chr6_70428973_ENST00000370577_length(amino acids)=561AA_BP=233
MPLVCFPRHFWIPPGPRPFQTQTMNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFM
SLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHI
ALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQ
TIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDS
GFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIY
SLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKS

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

>64083_64083_3_PDSS2-LMBRD1_PDSS2_chr6_107595233_ENST00000369037_LMBRD1_chr6_70428973_ENST00000370570_length(amino acids)=561AA_BP=233
MPLVCFPRHFWIPPGPRPFQTQTMNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFM
SLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHI
ALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQ
TIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDS
GFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIY
SLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKS

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

>64083_64083_4_PDSS2-LMBRD1_PDSS2_chr6_107595233_ENST00000369037_LMBRD1_chr6_70428973_ENST00000370577_length(amino acids)=561AA_BP=233
MPLVCFPRHFWIPPGPRPFQTQTMNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFM
SLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHI
ALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQ
TIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDS
GFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIY
SLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKS

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

>64083_64083_5_PDSS2-LMBRD1_PDSS2_chr6_107595233_ENST00000453874_LMBRD1_chr6_70428973_ENST00000370570_length(amino acids)=561AA_BP=233
MPLVCFPRHFWIPPGPRPFQTQTMNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFM
SLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHI
ALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQ
TIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDS
GFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIY
SLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKS

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

>64083_64083_6_PDSS2-LMBRD1_PDSS2_chr6_107595233_ENST00000453874_LMBRD1_chr6_70428973_ENST00000370577_length(amino acids)=561AA_BP=233
MPLVCFPRHFWIPPGPRPFQTQTMNFRQLLLHLPRYLGASGSPRRLWWSPSLDTISSVGSWRGRSSKSPAHWNQVVSEAEKIVGYPTSFM
SLRCLLSDELSNIAMQVRKLVGTQHPLLTTARGLVHDSWNSLQLRGLVVLLISKAAGPSSVNTSCQNYDMVSGIYSCQRSLAEITELIHI
ALLVHRGIVNLNELQSSDGPLKDMQFGNKIAILSGDFLLANACNGLALLQNTKAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQ
TIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDS
GFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIY
SLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKS

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

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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/chr6:107595233/chr6:70428973)
- 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
.LMBRD1

Q9NUN5

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). {ECO:0000269|PubMed:19136951, ECO:0000269|PubMed:27456980, ECO:0000303|PubMed:25535791}.; FUNCTION: [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV). {ECO:0000269|PubMed:15956556}.

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
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515166_188139.0468.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515210_305139.0468.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515327_364139.0468.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515386_408139.0468.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515430_486139.0468.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515508_540139.0468.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616210_305212.0541.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616327_364212.0541.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616386_408212.0541.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616430_486212.0541.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616508_540212.0541.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515145_165139.0468.0TransmembraneHelical%3B Name%3D4
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515189_209139.0468.0TransmembraneHelical%3B Name%3D5
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515306_326139.0468.0TransmembraneHelical%3B Name%3D6
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515365_385139.0468.0TransmembraneHelical%3B Name%3D7
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515409_429139.0468.0TransmembraneHelical%3B Name%3D8
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515487_507139.0468.0TransmembraneHelical%3B Name%3D9
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616306_326212.0541.0TransmembraneHelical%3B Name%3D6
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616365_385212.0541.0TransmembraneHelical%3B Name%3D7
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616409_429212.0541.0TransmembraneHelical%3B Name%3D8
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616487_507212.0541.0TransmembraneHelical%3B Name%3D9

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515122_144139.0468.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST000003705705151_10139.0468.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057051532_50139.0468.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057051572_100139.0468.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616122_144212.0541.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616166_188212.0541.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST000003705776161_10212.0541.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057761632_50212.0541.0Topological domainCytoplasmic
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057761672_100212.0541.0Topological domainExtracellular
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370570515101_121139.0468.0TransmembraneHelical%3B Name%3D3
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057051511_31139.0468.0TransmembraneHelical%3B Name%3D1
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057051551_71139.0468.0TransmembraneHelical%3B Name%3D2
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616101_121212.0541.0TransmembraneHelical%3B Name%3D3
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057761611_31212.0541.0TransmembraneHelical%3B Name%3D1
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616145_165212.0541.0TransmembraneHelical%3B Name%3D4
TgeneLMBRD1chr6:107595233chr6:70428973ENST00000370577616189_209212.0541.0TransmembraneHelical%3B Name%3D5
TgeneLMBRD1chr6:107595233chr6:70428973ENST0000037057761651_71212.0541.0TransmembraneHelical%3B Name%3D2


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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
PDSS2
LMBRD1


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 PDSS2-LMBRD1


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 PDSS2-LMBRD1


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