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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:LSM14A-URI1 (FusionGDB2 ID:50197)

Fusion Gene Summary for LSM14A-URI1

check button Fusion gene summary
Fusion gene informationFusion gene name: LSM14A-URI1
Fusion gene ID: 50197
HgeneTgene
Gene symbol

LSM14A

URI1

Gene ID

26065

8725

Gene nameLSM14A mRNA processing body assembly factorURI1 prefoldin like chaperone
SynonymsC19orf13|FAM61A|RAP55|RAP55AC19orf2|NNX3|PPP1R19|RMP|URI
Cytomap

19q13.11

19q12

Type of geneprotein-codingprotein-coding
Descriptionprotein LSM14 homolog ALSM14 homolog ALSM14A, SCD6 homolog ARNA-associated protein 55RNA-associated protein 55AalphaSNBPfamily with sequence similarity 61, member AhRAP55hRAP55Aprotein SCD6 homologputative alpha-synuclein-binding proteinunconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19
Modification date2020032720200313
UniProtAcc

Q8ND56

O94763

Ensembl transtripts involved in fusion geneENST00000433627, ENST00000540746, 
ENST00000544216, 
ENST00000392271, 
ENST00000312051, ENST00000574176, 
ENST00000360605, ENST00000542441, 
Fusion gene scores* DoF score18 X 10 X 10=180016 X 13 X 8=1664
# samples 2418
** MAII scorelog2(24/1800*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1664*10)=-3.20858662181142
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LSM14A [Title/Abstract] AND URI1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLSM14A(34663668)-URI1(30462100), # samples:2
Anticipated loss of major functional domain due to fusion event.LSM14A-URI1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
LSM14A-URI1 seems lost the major protein functional domain in Tgene partner, which is a essential 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
HgeneLSM14A

GO:0033962

cytoplasmic mRNA processing body assembly

16484376

TgeneURI1

GO:0000122

negative regulation of transcription by RNA polymerase II

12737519|15367675|21730289

TgeneURI1

GO:0001558

regulation of cell growth

21730289

TgeneURI1

GO:0071363

cellular response to growth factor stimulus

17936702

TgeneURI1

GO:0071383

cellular response to steroid hormone stimulus

21730289


check buttonFusion gene breakpoints across LSM14A (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 URI1 (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
ChimerDB4LUSCTCGA-22-5471-01ALSM14Achr19

34663668

+URI1chr19

30462100

+
ChimerDB4LUSCTCGA-22-5471LSM14Achr19

34663668

+URI1chr19

30462100

+


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Fusion Gene ORF analysis for LSM14A-URI1

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
5CDS-5UTRENST00000433627ENST00000392271LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-5UTRENST00000540746ENST00000392271LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-5UTRENST00000544216ENST00000392271LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-intronENST00000433627ENST00000312051LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-intronENST00000433627ENST00000574176LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-intronENST00000540746ENST00000312051LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-intronENST00000540746ENST00000574176LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-intronENST00000544216ENST00000312051LSM14Achr19

34663668

+URI1chr19

30462100

+
5CDS-intronENST00000544216ENST00000574176LSM14Achr19

34663668

+URI1chr19

30462100

+
Frame-shiftENST00000433627ENST00000360605LSM14Achr19

34663668

+URI1chr19

30462100

+
Frame-shiftENST00000433627ENST00000542441LSM14Achr19

34663668

+URI1chr19

30462100

+
Frame-shiftENST00000540746ENST00000360605LSM14Achr19

34663668

+URI1chr19

30462100

+
Frame-shiftENST00000540746ENST00000542441LSM14Achr19

34663668

+URI1chr19

30462100

+
Frame-shiftENST00000544216ENST00000360605LSM14Achr19

34663668

+URI1chr19

30462100

+
Frame-shiftENST00000544216ENST00000542441LSM14Achr19

34663668

+URI1chr19

30462100

+

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 LSM14A-URI1


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)
LSM14Achr1934663668+URI1chr1930462099+5.94E-081
LSM14Achr1934663668+URI1chr1930462099+5.94E-081
LSM14Achr1934663668+URI1chr1930462099+5.94E-081
LSM14Achr1934663668+URI1chr1930462099+5.94E-081

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.
genomic feature of top 1%

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Fusion Protein Features for LSM14A-URI1


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/:34663668/:30462100)
- 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
LSM14A

Q8ND56

URI1

O94763

FUNCTION: Essential for formation of P-bodies, cytoplasmic structures that provide storage sites for translationally inactive mRNAs and protect them from degradation (PubMed:16484376, PubMed:17074753, PubMed:29510985). Acts as a repressor of mRNA translation (PubMed:29510985). May play a role in mitotic spindle assembly (PubMed:26339800). {ECO:0000269|PubMed:16484376, ECO:0000269|PubMed:17074753, ECO:0000269|PubMed:26339800, ECO:0000269|PubMed:29510985}.FUNCTION: Involved in gene transcription regulation. Acts as a transcriptional repressor in concert with the corepressor UXT to regulate androgen receptor (AR) transcription. May act as a tumor suppressor to repress AR-mediated gene transcription and to inhibit anchorage-independent growth in prostate cancer cells. Required for cell survival in ovarian cancer cells. Together with UXT, associates with chromatin to the NKX3-1 promoter region. Antagonizes transcriptional modulation via hepatitis B virus X protein.; FUNCTION: Plays a central role in maintaining S6K1 signaling and BAD phosphorylation under normal growth conditions thereby protecting cells from potential deleterious effects of sustained S6K1 signaling. The URI1-PPP1CC complex acts as a central component of a negative feedback mechanism that counteracts excessive S6K1 survival signaling to BAD in response to growth factors. Mediates inhibition of PPP1CC phosphatase activity in mitochondria. Coordinates the regulation of nutrient-sensitive gene expression availability in a mTOR-dependent manner. Seems to be a scaffolding protein able to assemble a prefoldin-like complex that contains PFDs and proteins with roles in transcription and ubiquitination.

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 LSM14A-URI1


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 LSM14A-URI1


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 LSM14A-URI1


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 LSM14A-URI1


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