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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:HBS1L-ARMC2 (FusionGDB2 ID:35720)

Fusion Gene Summary for HBS1L-ARMC2

check button Fusion gene summary
Fusion gene informationFusion gene name: HBS1L-ARMC2
Fusion gene ID: 35720
HgeneTgene
Gene symbol

HBS1L

ARMC2

Gene ID

10767

84071

Gene nameHBS1 like translational GTPasearmadillo repeat containing 2
SynonymsEF-1a|ERFS|HBS1|HSPC276|eRF3cSPGF38|bA787I22.1
Cytomap

6q23.3

6q21

Type of geneprotein-codingprotein-coding
DescriptionHBS1-like proteinERF3-similar proteinHsp70 subfamily B suppressor 1-like proteineRF3 family memberarmadillo repeat-containing protein 2
Modification date2020031320200313
UniProtAcc

Q9Y450

Q8NEN0

Ensembl transtripts involved in fusion geneENST00000367824, ENST00000367826, 
ENST00000367837, ENST00000415177, 
ENST00000527578, ENST00000445176, 
ENST00000314674, ENST00000367820, 
ENST00000367822, ENST00000525067, 
ENST00000368972, ENST00000392644, 
ENST00000481850, 
Fusion gene scores* DoF score6 X 5 X 6=18015 X 15 X 7=1575
# samples 716
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1575*10)=-3.29920801838728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HBS1L [Title/Abstract] AND ARMC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHBS1L(135318535)-ARMC2(109197346), # 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

check buttonFusion gene breakpoints across HBS1L (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 ARMC2 (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-BH-A1F0-01AHBS1Lchr6

135318535

-ARMC2chr6

109197346

+


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Fusion Gene ORF analysis for HBS1L-ARMC2

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-5UTRENST00000367824ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000367824ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000367826ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000367826ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000367837ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000367837ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000415177ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000415177ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000527578ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-5UTRENST00000527578ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-intronENST00000367824ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-intronENST00000367826ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-intronENST00000367837ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-intronENST00000415177ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5CDS-intronENST00000527578ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5UTR-5UTRENST00000445176ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5UTR-5UTRENST00000445176ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
5UTR-intronENST00000445176ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000314674ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000314674ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000367820ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000367820ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000367822ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000367822ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000525067ENST00000368972HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-5UTRENST00000525067ENST00000392644HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-intronENST00000314674ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-intronENST00000367820ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-intronENST00000367822ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+
intron-intronENST00000525067ENST00000481850HBS1Lchr6

135318535

-ARMC2chr6

109197346

+

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 HBS1L-ARMC2


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)
HBS1Lchr6135318534-ARMC2chr6109197345+0.088142480.91185755
HBS1Lchr6135318534-ARMC2chr6109197345+0.088142480.91185755

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.
genomic feature of top 1%

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Fusion Protein Features for HBS1L-ARMC2


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/:135318535/:109197346)
- 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
HBS1L

Q9Y450

ARMC2

Q8NEN0

FUNCTION: Cotranslational quality control factor involved in the No-Go Decay (NGD) pathway (PubMed:21448132). In the presence of ABCE1 and PELO, is required for 48S complex formation from 80S ribosomes and dissociation of vacant 80S ribosomes (PubMed:21448132). Together with PELO and in presence of ABCE1, recognizes stalled ribosomes and promotes dissociation of elongation complexes assembled on non-stop mRNAs; this triggers endonucleolytic cleavage of the mRNA, a mechanism to release non-functional ribosomes and to degrade damaged mRNAs as part of the No-Go Decay (NGD) pathway (PubMed:21448132). {ECO:0000269|PubMed:21448132}.; FUNCTION: [Isoform 2]: Facilitates the association of the exosome complex with the SKI complex. {ECO:0000269|PubMed:28204585}.FUNCTION: Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity). {ECO:0000250|UniProtKB:Q3URY6}.

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 HBS1L-ARMC2


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 HBS1L-ARMC2


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 HBS1L-ARMC2


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 HBS1L-ARMC2


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