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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:ERP44-UBQLN1 (FusionGDB2 ID:27484)

Fusion Gene Summary for ERP44-UBQLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ERP44-UBQLN1
Fusion gene ID: 27484
HgeneTgene
Gene symbol

ERP44

UBQLN1

Gene ID

23071

29979

Gene nameendoplasmic reticulum protein 44ubiquilin 1
SynonymsPDIA10|TXNDC4DA41|DSK2|PLIC-1|UBQN|XDRP1
Cytomap

9q31.1

9q21.32|9q21.2-q21.3

Type of geneprotein-codingprotein-coding
Descriptionendoplasmic reticulum resident protein 44ER protein 44endoplasmic reticulum resident protein 44 kDaepididymis secretory sperm binding proteinprotein disulfide isomerase family A, member 10thioredoxin domain containing 4 (endoplasmic reticulum)thioreubiquilin-1hPLIC-1protein linking IAP with cytoskeleton 1testicular tissue protein Li 219
Modification date2020031320200327
UniProtAcc

Q9BS26

.
Ensembl transtripts involved in fusion geneENST00000262455, ENST00000257468, 
ENST00000376395, 
Fusion gene scores* DoF score6 X 5 X 3=9015 X 10 X 9=1350
# samples 719
** MAII scorelog2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERP44 [Title/Abstract] AND UBQLN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERP44(102814699)-UBQLN1(86284242), # 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
HgeneERP44

GO:0006457

protein folding

11847130

HgeneERP44

GO:0006986

response to unfolded protein

11847130

HgeneERP44

GO:0009100

glycoprotein metabolic process

11847130

HgeneERP44

GO:0034976

response to endoplasmic reticulum stress

11847130

TgeneUBQLN1

GO:0031396

regulation of protein ubiquitination

12634373

TgeneUBQLN1

GO:0031398

positive regulation of protein ubiquitination

23307288

TgeneUBQLN1

GO:0035973

aggrephagy

21143716


check buttonFusion gene breakpoints across ERP44 (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 UBQLN1 (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 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
ChimerDB4Non-CancerERR315459ERP44chr9

102814699

-UBQLN1chr9

86284242

-


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Fusion Gene ORF analysis for ERP44-UBQLN1

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-frameENST00000262455ENST00000257468ERP44chr9

102814699

-UBQLN1chr9

86284242

-
In-frameENST00000262455ENST00000376395ERP44chr9

102814699

-UBQLN1chr9

86284242

-

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)
ENST00000262455ERP44chr9102814699-ENST00000376395UBQLN1chr986284242-2975486501150366
ENST00000262455ERP44chr9102814699-ENST00000257468UBQLN1chr986284242-1425486501066338

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
ENST00000262455ENST00000376395ERP44chr9102814699-UBQLN1chr986284242-0.0002044840.9997955
ENST00000262455ENST00000257468ERP44chr9102814699-UBQLN1chr986284242-0.0006968320.9993031

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Fusion Genomic Features for ERP44-UBQLN1


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)

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.

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Fusion Protein Features for ERP44-UBQLN1


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/chr9:102814699/chr9:86284242)
- 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
ERP44

Q9BS26

.
FUNCTION: Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum. {ECO:0000269|PubMed:11847130, ECO:0000269|PubMed:14517240}.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
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000257468510387_434368562.0DomainSTI1 3
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000257468510438_470368562.0DomainSTI1 4
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000257468510546_586368562.0DomainUBA
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000376395511387_434368590.0DomainSTI1 3
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000376395511438_470368590.0DomainSTI1 4
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000376395511546_586368590.0DomainUBA

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERP44chr9:102814699chr9:86284242ENST00000262455-41230_13895407.0DomainThioredoxin
HgeneERP44chr9:102814699chr9:86284242ENST00000262455-412403_40695407.0MotifPrevents secretion from ER
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000257468510182_210368562.0DomainSTI1 1
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000257468510212_251368562.0DomainSTI1 2
TgeneUBQLN1chr9:102814699chr9:86284242ENST0000025746851037_111368562.0DomainUbiquitin-like
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000376395511182_210368590.0DomainSTI1 1
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000376395511212_251368590.0DomainSTI1 2
TgeneUBQLN1chr9:102814699chr9:86284242ENST0000037639551137_111368590.0DomainUbiquitin-like


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Fusion Gene Sequence for ERP44-UBQLN1


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.
>27484_27484_1_ERP44-UBQLN1_ERP44_chr9_102814699_ENST00000262455_UBQLN1_chr9_86284242_ENST00000257468_length(transcript)=1425nt_BP=486nt
GAAGTGAGGGTGTGAGAGGCCTCTCTGGAAGTTGTCCCGGGTGTTCGCCGCTGGAGCCCGGGTCGAGAGGACGAGGTGCCGCTGCCTGGA
GAATCCTCCGCTGCCGTCGGCTCCCGGAGCCCAGCCCTTTCCTAACCCAACCCAACCTAGCCCAGTCCCAGCCGCCAGCGCCTGTCCCTG
TCACGGACCCCAGCGTTACCATGCATCCTGCCGTCTTCCTATCCTTACCCGACCTCAGATGCTCCCTTCTGCTCCTGGTAACTTGGGTTT
TTACTCCTGTAACAACTGAAATAACAAGTCTTGATACAGAGAATATAGATGAAATTTTAAACAATGCTGATGTTGCTTTAGTAAATTTTT
ATGCTGACTGGTGTCGTTTCAGTCAGATGTTGCATCCAATTTTTGAGGAAGCTTCCGATGTCATTAAGGAAGAATTTCCAAATGAAAATC
AAGTAGTGTTTGCCAGAGTTGATTGTGATCAGCACTCTAGTATGTTCAACACACCAGGAATGCAGAGCTTGTTGCAACAAATAACTGAAA
ACCCACAACTGATGCAAAACATGTTGTCTGCCCCCTACATGAGAAGCATGATGCAGTCACTAAGCCAGAATCCTGACCTTGCTGCACAGA
TGCAGAATCCTGATACACTATCAGCAATGTCAAACCCTAGAGCAATGCAGGCCTTGTTACAGATTCAGCAGGGTTTACAGACATTAGCAA
CGGAAGCCCCGGGCCTCATCCCAGGGTTTACTCCTGGCTTGGGGGCATTAGGAAGCACTGGAGGCTCTTCGGGAACTAATGGATCTAACG
CCACACCTAGTGAAAACACAAGTCCCACAGCAGGAACCACTGAACCTGGACATCAGCAGTTTATTCAGCAGATGCTGCAGGCTCTTGCTG
GAGTAAATCCTCAGCTACAGAATCCAGAAGTCAGATTTCAGCAACAACTGGAACAACTCAGTGCAATGGGATTTTTGAACCGTGAAGCAA
ACTTGCAAGCTCTAATAGCAACAGGAGGTGATATCAATGCAGCTATTGAAAGGTTACTGGGCTCCCAGCCATCATAGCAGCATTTCTGTA
TCTTGAAAAAATGTAATTTATTTTTGATAACGGCTCTTAAACTTTAAAATACCTGCTTTATTTCATTTTGACTCTTGGAATTCTGTGCTG
TTATAAACAAACCCAATATGATGCATTTTAAGGTGGAGTACAGTAAGATGTGTGGGTTTTTCTGTATTTTTCTTTTCTGGAACAGTGGGA
ATTAAGGCTACTGCATGCATCACTTCTGCATTTATTGTAATTTTTTAAAAACATCACCTTTTATAGTTGGGTGACCAGATTTTGTCCTGC

>27484_27484_1_ERP44-UBQLN1_ERP44_chr9_102814699_ENST00000262455_UBQLN1_chr9_86284242_ENST00000257468_length(amino acids)=338AA_BP=146
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID
EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHSSMFNTPGMQSLLQQITENPQLMQNMLSAPYMRSM
MQSLSQNPDLAAQMQNPDTLSAMSNPRAMQALLQIQQGLQTLATEAPGLIPGFTPGLGALGSTGGSSGTNGSNATPSENTSPTAGTTEPG

--------------------------------------------------------------
>27484_27484_2_ERP44-UBQLN1_ERP44_chr9_102814699_ENST00000262455_UBQLN1_chr9_86284242_ENST00000376395_length(transcript)=2975nt_BP=486nt
GAAGTGAGGGTGTGAGAGGCCTCTCTGGAAGTTGTCCCGGGTGTTCGCCGCTGGAGCCCGGGTCGAGAGGACGAGGTGCCGCTGCCTGGA
GAATCCTCCGCTGCCGTCGGCTCCCGGAGCCCAGCCCTTTCCTAACCCAACCCAACCTAGCCCAGTCCCAGCCGCCAGCGCCTGTCCCTG
TCACGGACCCCAGCGTTACCATGCATCCTGCCGTCTTCCTATCCTTACCCGACCTCAGATGCTCCCTTCTGCTCCTGGTAACTTGGGTTT
TTACTCCTGTAACAACTGAAATAACAAGTCTTGATACAGAGAATATAGATGAAATTTTAAACAATGCTGATGTTGCTTTAGTAAATTTTT
ATGCTGACTGGTGTCGTTTCAGTCAGATGTTGCATCCAATTTTTGAGGAAGCTTCCGATGTCATTAAGGAAGAATTTCCAAATGAAAATC
AAGTAGTGTTTGCCAGAGTTGATTGTGATCAGCACTCTAGTATGTTCAACACACCAGGAATGCAGAGCTTGTTGCAACAAATAACTGAAA
ACCCACAACTGATGCAAAACATGTTGTCTGCCCCCTACATGAGAAGCATGATGCAGTCACTAAGCCAGAATCCTGACCTTGCTGCACAGA
TGATGCTGAATAATCCCCTATTTGCTGGAAATCCTCAGCTTCAAGAACAAATGAGACAACAGCTCCCAACTTTCCTCCAACAAATGCAGA
ATCCTGATACACTATCAGCAATGTCAAACCCTAGAGCAATGCAGGCCTTGTTACAGATTCAGCAGGGTTTACAGACATTAGCAACGGAAG
CCCCGGGCCTCATCCCAGGGTTTACTCCTGGCTTGGGGGCATTAGGAAGCACTGGAGGCTCTTCGGGAACTAATGGATCTAACGCCACAC
CTAGTGAAAACACAAGTCCCACAGCAGGAACCACTGAACCTGGACATCAGCAGTTTATTCAGCAGATGCTGCAGGCTCTTGCTGGAGTAA
ATCCTCAGCTACAGAATCCAGAAGTCAGATTTCAGCAACAACTGGAACAACTCAGTGCAATGGGATTTTTGAACCGTGAAGCAAACTTGC
AAGCTCTAATAGCAACAGGAGGTGATATCAATGCAGCTATTGAAAGGTTACTGGGCTCCCAGCCATCATAGCAGCATTTCTGTATCTTGA
AAAAATGTAATTTATTTTTGATAACGGCTCTTAAACTTTAAAATACCTGCTTTATTTCATTTTGACTCTTGGAATTCTGTGCTGTTATAA
ACAAACCCAATATGATGCATTTTAAGGTGGAGTACAGTAAGATGTGTGGGTTTTTCTGTATTTTTCTTTTCTGGAACAGTGGGAATTAAG
GCTACTGCATGCATCACTTCTGCATTTATTGTAATTTTTTAAAAACATCACCTTTTATAGTTGGGTGACCAGATTTTGTCCTGCATCTGT
CCAGTTTATTTGCTTTTTAAACATTAGCCTATGGTAGTAATTTATGTAGAATAAAAGCATTAAAAAGAAGCAAATCATTTGCACTCTATA
ATTTGTGGTACAGTATTGCTTATTGTGACTTTGGCATGCATTTTTGCAAACAATGCTGTAAGATTTATACTACTGATAATTTTGTTTTAT
TTGTATACAATATAGAGTATGCACATTTGGGACTGCATTTCTGGAAACATACTGCAATAGGCTCTCTGAGCAAAACACCTGTAACTAAAA
AAGTGAAGATAAGAAAATACTCTTAAAGCTGAGTATTTCCTAATTGTATAGAATCTTACAGCATCTTTGACAAACATCTCCCAGCAAAAG
TGCCGGTTAGTCAGGTTTGTTGAAAATACAGTAGAAAAGCTGATTCTGGTTATCTCTTTAAGGACAATTAATTGTACAGACACATAATGT
AACATTGTCTCAACATTCATTCACAGATTGACTGTAAATTACCTTAATCTTTGTGCAGACTGAAGGAACACTGTAGTATACCCCAAAGTG
CATTTGCCTAGGACTTCTCAGCTTCTCCCATAGGTAGTTTAACAGGCATTAAAATTTGTAATTGAAATGTTGCTTTCACTGAAAAAGTGT
CTTGATGTTTCAGTTATTTTTAATCGCCATAAAAAAATAGAACTATCTTTTGGGTTTATCTGTTTTCTCATGCACAGGCAATACACAAAT
TTAAAATGAGTTGTGAGCCAATTGTTTCTGAAGTGTTTTGGTAGTTCTATTAAGAAATAGTTAAATATTGTGCTTTTCAGAGCCTCAGAG
AAAGGGGGACGGGGTGGGGGGGTGGGGCAGCGGAATCTGTCCTGGATGGGGCCAGCTTAAATAATACTGGCAACCAAGATTCTGTTAGGA
TTTCTGTGCATATAGTGTAGTAAAGAAGTATCATTCAGGGGTGAAAAACAAAGAGCCGTTTTAATGATGTTGAGTACATTTGGCTGTTTT
ATAGCCTTTTTCTTCCCTCCCCCAAAGAATTCTGTTTGCCTAACTCCCAAACTGTTGGGGTGGTACATTCCTTTAGGACCAATTAAAACA
TAATTGAGGGTCAGTGATACATTTGGCTGACTCTGGTTCAGTATTCTCTTAGGTGATTATATTCTCTCATGTACAGTTACAGGAAATTAA
AATGTTAAAGTAACCTAAAATGAATTCAGACCAATAAAATCAAGGGAAATACAAGTTGATTGCATTACTTCTGTATGTTGCTTGCTATTA
AAAAGGTTAAGAGGCCAGGTTACCCACCAGTCCTTGCACTGTTCTGACACTTTCCCCAGGAGGAAAACAAGTACAAAGGTTACGGTGGAG
GCATAAGTAGAAGAGATTGTTAAGAAGGGTATTCATGTGTCTTTGCTCTTTCTGCTTTATGCCTCAGTTTGGTTTAAAAACTTCTGTACT
GGCAAATGGTGGTATTCAGTGTGGGATAGTGTCATAACTAATTTGACAATTTATTAATCATAAAATAACAATAAATCTCTAGCTTTTACA

>27484_27484_2_ERP44-UBQLN1_ERP44_chr9_102814699_ENST00000262455_UBQLN1_chr9_86284242_ENST00000376395_length(amino acids)=366AA_BP=146
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID
EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHSSMFNTPGMQSLLQQITENPQLMQNMLSAPYMRSM
MQSLSQNPDLAAQMMLNNPLFAGNPQLQEQMRQQLPTFLQQMQNPDTLSAMSNPRAMQALLQIQQGLQTLATEAPGLIPGFTPGLGALGS
TGGSSGTNGSNATPSENTSPTAGTTEPGHQQFIQQMLQALAGVNPQLQNPEVRFQQQLEQLSAMGFLNREANLQALIATGGDINAAIERL

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

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Fusion Gene PPI Analysis for ERP44-UBQLN1


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
HgeneERP44chr9:102814699chr9:86284242ENST00000262455-412236_28595.33333333333333407.0ITPR1
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000257468510178_428368.3333333333333562.0UBXN4
TgeneUBQLN1chr9:102814699chr9:86284242ENST00000376395511178_428368.3333333333333590.0UBXN4


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 ERP44-UBQLN1


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 ERP44-UBQLN1


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