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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:ERLIN2-GSR (FusionGDB2 ID:27428)

Fusion Gene Summary for ERLIN2-GSR

check button Fusion gene summary
Fusion gene informationFusion gene name: ERLIN2-GSR
Fusion gene ID: 27428
HgeneTgene
Gene symbol

ERLIN2

GSR

Gene ID

11160

2936

Gene nameER lipid raft associated 2glutathione-disulfide reductase
SynonymsC8orf2|Erlin-2|NET32|SPFH2|SPG18GR|GSRD|HEL-75|HEL-S-122m
Cytomap

8p11.23

8p12

Type of geneprotein-codingprotein-coding
Descriptionerlin-2SPFH domain family, member 2endoplasmic reticulum lipid raft-associated protein 2epididymis secretory sperm binding proteinspastic paraplegia 18 (autosomal dominant)stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2glutathione reductase, mitochondrialGRaseepididymis luminal protein 75epididymis secretory sperm binding protein Li 122mglutathione S-reductase
Modification date2020032720200313
UniProtAcc

O94905

P00390

Ensembl transtripts involved in fusion geneENST00000276461, ENST00000397228, 
ENST00000523887, ENST00000335171, 
ENST00000518586, ENST00000519638, 
ENST00000523107, 		ENST00000221130, 
ENST00000414019, ENST00000537535, 
ENST00000541648, ENST00000546342, 
Fusion gene scores* DoF score4 X 4 X 1=166 X 5 X 4=120
# samples 46
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERLIN2 [Title/Abstract] AND GSR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERLIN2(37594196)-GSR(30560757), # 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
HgeneERLIN2

GO:0030433

ubiquitin-dependent ERAD pathway

19240031


check buttonFusion gene breakpoints across ERLIN2 (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 GSR (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
ChimerDB4BRCATCGA-E2-A15EERLIN2chr8

37594196

+GSRchr8

30560757

-


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Fusion Gene ORF analysis for ERLIN2-GSR

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
5UTR-3CDSENST00000276461ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000276461ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000276461ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000276461ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000276461ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000397228ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000397228ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000397228ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000397228ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000397228ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000523887ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000523887ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000523887ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000523887ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
5UTR-3CDSENST00000523887ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000335171ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000335171ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000335171ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000335171ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000335171ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000518586ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000518586ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000518586ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000518586ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000518586ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000519638ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000519638ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000519638ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000519638ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000519638ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000523107ENST00000221130ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000523107ENST00000414019ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000523107ENST00000537535ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000523107ENST00000541648ERLIN2chr8

37594196

+GSRchr8

30560757

-
intron-3CDSENST00000523107ENST00000546342ERLIN2chr8

37594196

+GSRchr8

30560757

-

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 ERLIN2-GSR


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.

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 ERLIN2-GSR


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/:37594196/:30560757)
- 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
ERLIN2

O94905

GSR

P00390

FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:19240031, PubMed:17502376). Promotes sterol-accelerated ERAD of HMGCR probably implicating an AMFR/gp78-containing ubiquitin ligase complex (PubMed:21343306). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. May promote ER retention of the SCAP-SREBF complex (PubMed:24217618). {ECO:0000269|PubMed:17502376, ECO:0000269|PubMed:19240031, ECO:0000269|PubMed:21343306, ECO:0000269|PubMed:24217618}.FUNCTION: Maintains high levels of reduced glutathione in the cytosol.

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 ERLIN2-GSR


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 ERLIN2-GSR


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 ERLIN2-GSR


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 ERLIN2-GSR


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