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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:ERLIN1-FBXW4 (FusionGDB2 ID:27422)

Fusion Gene Summary for ERLIN1-FBXW4

check button Fusion gene summary
Fusion gene informationFusion gene name: ERLIN1-FBXW4
Fusion gene ID: 27422
HgeneTgene
Gene symbol

ERLIN1

FBXW4

Gene ID

10613

6468

Gene nameER lipid raft associated 1F-box and WD repeat domain containing 4
SynonymsC10orf69|Erlin-1|KE04|KEO4|SPFH1|SPG62DAC|FBW4|FBWD4|SHFM3|SHSF3
Cytomap

10q24.31

10q24.32

Type of geneprotein-codingprotein-coding
Descriptionerlin-1Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9SPFH domain family, member 1SPFH domain-containing protein 1endoplasmic reticulum lipid raft-associated protein 1stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1F-box/WD repeat-containing protein 4F-box and WD-40 domain protein 4F-box and WD-40 domain-containing protein 4F-box/WD repeat protein 4dactylinepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc

O75477

P57775

Ensembl transtripts involved in fusion geneENST00000407654, ENST00000421367, 
ENST00000470093, ENST00000331272, 
Fusion gene scores* DoF score6 X 6 X 5=1807 X 3 X 5=105
# samples 66
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/105*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERLIN1 [Title/Abstract] AND FBXW4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERLIN1(101945270)-FBXW4(103436193), # samples:1
Anticipated loss of major functional domain due to fusion event.ERLIN1-FBXW4 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ERLIN1-FBXW4 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
HgeneERLIN1

GO:0030433

ubiquitin-dependent ERAD pathway

19240031


check buttonFusion gene breakpoints across ERLIN1 (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 FBXW4 (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
ChimerDB4STADTCGA-IN-A6RSERLIN1chr10

101945270

-FBXW4chr10

103436193

-


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Fusion Gene ORF analysis for ERLIN1-FBXW4

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-intronENST00000407654ENST00000470093ERLIN1chr10

101945270

-FBXW4chr10

103436193

-
5CDS-intronENST00000421367ENST00000470093ERLIN1chr10

101945270

-FBXW4chr10

103436193

-
Frame-shiftENST00000421367ENST00000331272ERLIN1chr10

101945270

-FBXW4chr10

103436193

-
In-frameENST00000407654ENST00000331272ERLIN1chr10

101945270

-FBXW4chr10

103436193

-

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)
ENST00000407654ERLIN1chr10101945270-ENST00000331272FBXW4chr10103436193-180019621174390

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
ENST00000407654ENST00000331272ERLIN1chr10101945270-FBXW4chr10103436193-0.0157323240.98426765

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Fusion Genomic Features for ERLIN1-FBXW4


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 ERLIN1-FBXW4


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/chr10:101945270/chr10:103436193)
- 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
ERLIN1

O75477

FBXW4

P57775

FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618). {ECO:0000269|PubMed:19240031, ECO:0000269|PubMed:24217618}.; FUNCTION: (Microbial infection) Required early in hepatitis C virus (HCV) infection to initiate RNA replication, and later in the infection to support infectious virus production. {ECO:0000269|PubMed:31810281}.FUNCTION: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.

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
HgeneERLIN1chr10:101945270chr10:103436193ENST00000407654-2121_737349.0Topological domainCytoplasmic
HgeneERLIN1chr10:101945270chr10:103436193ENST00000421367-1111_737349.0Topological domainCytoplasmic
HgeneERLIN1chr10:101945270chr10:103436193ENST00000407654-2128_2837349.0TransmembraneHelical
HgeneERLIN1chr10:101945270chr10:103436193ENST00000421367-1118_2837349.0TransmembraneHelical
TgeneFBXW4chr10:101945270chr10:103436193ENST0000033127209154_19086413.0RepeatNote=WD 1
TgeneFBXW4chr10:101945270chr10:103436193ENST0000033127209193_22986413.0RepeatNote=WD 2
TgeneFBXW4chr10:101945270chr10:103436193ENST0000033127209236_27786413.0RepeatNote=WD 3
TgeneFBXW4chr10:101945270chr10:103436193ENST0000033127209283_32186413.0RepeatNote=WD 4
TgeneFBXW4chr10:101945270chr10:103436193ENST0000033127209327_36686413.0RepeatNote=WD 5
TgeneFBXW4chr10:101945270chr10:103436193ENST0000033127209373_40986413.0RepeatNote=WD 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERLIN1chr10:101945270chr10:103436193ENST00000407654-21229_34837349.0Topological domainLumenal
HgeneERLIN1chr10:101945270chr10:103436193ENST00000421367-11129_34837349.0Topological domainLumenal
TgeneFBXW4chr10:101945270chr10:103436193ENST000003312720925_7186413.0DomainF-box


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Fusion Gene Sequence for ERLIN1-FBXW4


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.
>27422_27422_1_ERLIN1-FBXW4_ERLIN1_chr10_101945270_ENST00000407654_FBXW4_chr10_103436193_ENST00000331272_length(transcript)=1800nt_BP=196nt
GGCTGTTGGCGGCGGTTGGCTCGGCGCGGGAGTCGGCTGCACGTGCGGGCGGGGGCGATGCGTCACTGATCGGAGGAACGAGAATGAATA
TGACTCAAGCCCGGGTTCTGGTGGCTGCAGTGGTGGGGTTGGTGGCTGTCCTGCTCTACGCCTCCATCCACAAGATTGAGGAGGGCCATC
TGGCTGTGTACTACAGGATGACCAGTGTCCCAGTGAAGGAACGAGTGAAGGTGTCTCAGAACTGGAGACTGGGGCGCTGCCGAGAGGGGA
TTCTGCTGAAGTGGAGATGCAGTCAGATGCCCTGGATGCAGCTAGAGGATGATTCTCTGTACATATCCCAGGCTAATTTCATCCTGGCCT
ACCAGTTCCGTCCAGATGGTGCCAGCTTGAATCGTCGGCCTCTGGGAGTCTTTGCTGGGCATGATGAGGACGTTTGCCACTTTGTGCTGG
CCAACTCGCATATTGTTAGTGCAGGAGGGGATGGGAAGATTGGCATTCATAAGATTCACAGCACCTTCACTGTCAAGTACTCGGCTCATG
AACAGGAGGTGAACTGTGTGGATTGCAAAGGGGGCATCATTGTGAGTGGCTCCAGGGACAGGACGGCCAAGGTGTGGCCTTTGGCCTCAG
GCCGGCTGGGGCAGTGCTTACACACCATCCAGACTGAAGACCGAGTCTGGTCCATTGCTATCAGCCCATTACTCAGCTCTTTTGTGACAG
GGACGGCTTGTTGCGGGCACTTCTCACCCCTGAGAATCTGGGACCTCAACAGTGGGCAGCTGATGACACACTTGGGCAGTGACTTTCCCC
CAGGGGCTGGGGTGCTGGATGTCATGTATGAGTCCCCTTTCACACTGCTGTCCTGTGGCTATGACACCTATGTTCGCTACTGGGACCTCC
GCACCAGCGTCCGGAAATGTGTCATGGAGTGGGAGGAGCCCCACGACAGCACCCTGTACTGCCTGCAGACAGATGGCAACCACCTGCTGG
CCACAGGTTCCTCCTACTACGGTGTTGTACGGCTGTGGGACCGGCGTCAAAGGGCCTGCCTGCACGCCTTCCCGCTGACGTCGACTCCCC
TCAGCAGCCCTGTGTACTGCCTGCGTCTCACCACCAAGCATCTCTATGCTGCCCTGTCTTACAACCTCCACGTCCTGGATTTTCAAAACC
CATGACCGTCAGGGCCACCCCTGCCTCTGGGCCAGGGAAACCAGCTACTCAGGGACTTCTCTTGCCTGGAGGGTGCAGTGATAGCTCCTC
CTCACTGCCCCACTGTGCTCCTGGGCCTGTGACCCCAGTGCTCAGGCACCTTGCACTAGAGGCTTCTGACTCCTGGGACTTTGGAGCTTA
CCAGAGATGCAGTCCCTCCCAGGAACCTGTTGGAGAGGCAGGACCTGCTGCTTTAGAGTGCGGCTGAACCCGGGCCTTGCGTCCCTGTTT
GGCCAGAGCAAGGATCTGGCCTGGAGAGGCCCATCCTATACCCCTTATTAGAGCCATGACAGCCTACAGAGTGAGGTGAGGTGCTCCCAC
CTTCCCAGATGGTTCCTTTCTGCCCCTTCCTGGAAGGAAAGGTGAGGCTGCCAATAGCCTCCTGGCACCAGCCAGACCTCACCCTTGACC
AACCTCTCGGGGCTGGGGGTTCATTCCTGGGGCACTGTGGCCTGGTTTTGCTTTGAAACCAAGAAAGAGCAAAGGGAACCCAGCAGTTCT
GAGTGAGTTCTGAGCCAGCCCTACCTCAGGCTGGCTGTTGAGACATGCTACAATTTTCATTTTTGTAAAAATAAAGCTTGATTGTTCACA

>27422_27422_1_ERLIN1-FBXW4_ERLIN1_chr10_101945270_ENST00000407654_FBXW4_chr10_103436193_ENST00000331272_length(amino acids)=390AA_BP=64
LLAAVGSARESAARAGGGDASLIGGTRMNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRMTSVPVKERVKVSQNWRLGRCREGI
LLKWRCSQMPWMQLEDDSLYISQANFILAYQFRPDGASLNRRPLGVFAGHDEDVCHFVLANSHIVSAGGDGKIGIHKIHSTFTVKYSAHE
QEVNCVDCKGGIIVSGSRDRTAKVWPLASGRLGQCLHTIQTEDRVWSIAISPLLSSFVTGTACCGHFSPLRIWDLNSGQLMTHLGSDFPP
GAGVLDVMYESPFTLLSCGYDTYVRYWDLRTSVRKCVMEWEEPHDSTLYCLQTDGNHLLATGSSYYGVVRLWDRRQRACLHAFPLTSTPL

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

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Fusion Gene PPI Analysis for ERLIN1-FBXW4


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 ERLIN1-FBXW4


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 ERLIN1-FBXW4


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