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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:HEATR1-LGALS8 (FusionGDB2 ID:35944)

Fusion Gene Summary for HEATR1-LGALS8

check button Fusion gene summary
Fusion gene informationFusion gene name: HEATR1-LGALS8
Fusion gene ID: 35944
HgeneTgene
Gene symbol

HEATR1

LGALS8

Gene ID

55127

3964

Gene nameHEAT repeat containing 1galectin 8
SynonymsBAP28|UTP10Gal-8|PCTA-1|PCTA1|Po66-CBP
Cytomap

1q43

1q43

Type of geneprotein-codingprotein-coding
DescriptionHEAT repeat-containing protein 1U3 small nucleolar RNA-associated protein 10 homologUTP10, small subunit (SSU) processome component, homologprotein BAP28galectin-8Po66 carbohydrate binding proteingalectin-8glectin, galactoside-binding, soluble, 8po66 carbohydrate-binding proteinprostate carcinoma tumor antigen 1
Modification date2020031320200327
UniProtAcc

Q9H583

O00214

Ensembl transtripts involved in fusion geneENST00000366581, ENST00000366582, 
ENST00000366579, ENST00000483073, 
ENST00000323938, ENST00000341872, 
ENST00000352231, ENST00000366584, 
ENST00000416919, ENST00000450372, 
ENST00000525042, ENST00000526589, 
ENST00000526634, ENST00000527974, 
Fusion gene scores* DoF score6 X 7 X 5=2105 X 6 X 3=90
# samples 76
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HEATR1 [Title/Abstract] AND LGALS8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHEATR1(236754147)-LGALS8(236706061), # samples:1
HEATR1(236712324)-LGALS8(236712322), # 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
TgeneLGALS8

GO:1904977

lymphatic endothelial cell migration

19268462


check buttonFusion gene breakpoints across HEATR1 (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 LGALS8 (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
ChimerDB4BRCATCGA-A2-A0CL-01AHEATR1chr1

236754147

-LGALS8chr1

236706061

+
ChiTaRS5.0N/AFN164541HEATR1chr1

236712324

-LGALS8chr1

236712322

-


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Fusion Gene ORF analysis for HEATR1-LGALS8

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-frameENST00000366581ENST00000323938HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000341872HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000352231HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000366584HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000416919HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000450372HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000525042HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000526589HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000526634HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366581ENST00000527974HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000323938HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000341872HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000352231HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000366584HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000416919HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000450372HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000525042HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000526589HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000526634HEATR1chr1

236754147

-LGALS8chr1

236706061

+
In-frameENST00000366582ENST00000527974HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000323938HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000341872HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000352231HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000366584HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000416919HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000450372HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000525042HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000526589HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000526634HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000366579ENST00000527974HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000323938HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000341872HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000352231HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000366584HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000416919HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000450372HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000525042HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000526589HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000526634HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3CDSENST00000483073ENST00000527974HEATR1chr1

236754147

-LGALS8chr1

236706061

+
intron-3UTRENST00000366579ENST00000341872HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366579ENST00000366584HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366579ENST00000450372HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366579ENST00000526589HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366581ENST00000341872HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366581ENST00000366584HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366581ENST00000450372HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366581ENST00000526589HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366582ENST00000341872HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366582ENST00000366584HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366582ENST00000450372HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000366582ENST00000526589HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000483073ENST00000341872HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000483073ENST00000366584HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000483073ENST00000450372HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-3UTRENST00000483073ENST00000526589HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366579ENST00000323938HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366579ENST00000352231HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366579ENST00000416919HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366579ENST00000525042HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366579ENST00000526634HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366579ENST00000527974HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366581ENST00000323938HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366581ENST00000352231HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366581ENST00000416919HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366581ENST00000525042HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366581ENST00000526634HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366581ENST00000527974HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366582ENST00000323938HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366582ENST00000352231HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366582ENST00000416919HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366582ENST00000525042HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366582ENST00000526634HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000366582ENST00000527974HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000483073ENST00000323938HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000483073ENST00000352231HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000483073ENST00000416919HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000483073ENST00000525042HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000483073ENST00000526634HEATR1chr1

236712324

-LGALS8chr1

236712322

-
intron-intronENST00000483073ENST00000527974HEATR1chr1

236712324

-LGALS8chr1

236712322

-

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 HEATR1-LGALS8


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)
HEATR1chr1236754146-LGALS8chr1236706060+0.355443120.64455694
HEATR1chr1236754146-LGALS8chr1236706060+0.355443120.64455694

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 HEATR1-LGALS8


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/chr1:236754147/chr1:236706061)
- 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
HEATR1

Q9H583

LGALS8

O00214

FUNCTION: Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. {ECO:0000269|PubMed:17699751}.FUNCTION: Beta-galactoside-binding lectin that acts as a sensor of membrane damage caused by infection and restricts the proliferation of infecting pathogens by targeting them for autophagy (PubMed:22246324, PubMed:28077878). Detects membrane rupture by binding beta-galactoside ligands located on the lumenal side of the endosome membrane; these ligands becoming exposed to the cytoplasm following rupture (PubMed:22246324, PubMed:28077878). Restricts infection by initiating autophagy via interaction with CALCOCO2/NDP52 (PubMed:22246324, PubMed:28077878). Required to restrict infection of bacterial invasion such as S.typhimurium (PubMed:22246324). Also required to restrict infection of Picornaviridae viruses (PubMed:28077878). Has a marked preference for 3'-O-sialylated and 3'-O-sulfated glycans (PubMed:21288902). {ECO:0000269|PubMed:21288902, ECO:0000269|PubMed:22246324, ECO:0000269|PubMed:28077878}.

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
TgeneLGALS8chr1:236754147chr1:236706061ENST00000341872611187_317174318.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000352231612187_317174360.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000366584510187_317174318.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000450372612187_317174360.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000526589814187_317174360.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000526634510187_317174318.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000527974511187_317174360.0DomainGalectin 2
TgeneLGALS8chr1:236754147chr1:236706061ENST00000341872611249_255174318.0RegionBeta-galactoside binding
TgeneLGALS8chr1:236754147chr1:236706061ENST00000352231612249_255174360.0RegionBeta-galactoside binding
TgeneLGALS8chr1:236754147chr1:236706061ENST00000366584510249_255174318.0RegionBeta-galactoside binding
TgeneLGALS8chr1:236754147chr1:236706061ENST00000450372612249_255174360.0RegionBeta-galactoside binding
TgeneLGALS8chr1:236754147chr1:236706061ENST00000526589814249_255174360.0RegionBeta-galactoside binding
TgeneLGALS8chr1:236754147chr1:236706061ENST00000526634510249_255174318.0RegionBeta-galactoside binding
TgeneLGALS8chr1:236754147chr1:236706061ENST00000527974511249_255174360.0RegionBeta-galactoside binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHEATR1chr1:236754147chr1:236706061ENST00000366582-12452106_21425102145.0RepeatNote=HEAT
TgeneLGALS8chr1:236754147chr1:236706061ENST0000034187261119_152174318.0DomainGalectin 1
TgeneLGALS8chr1:236754147chr1:236706061ENST0000035223161219_152174360.0DomainGalectin 1
TgeneLGALS8chr1:236754147chr1:236706061ENST0000036658451019_152174318.0DomainGalectin 1
TgeneLGALS8chr1:236754147chr1:236706061ENST0000045037261219_152174360.0DomainGalectin 1
TgeneLGALS8chr1:236754147chr1:236706061ENST0000052658981419_152174360.0DomainGalectin 1
TgeneLGALS8chr1:236754147chr1:236706061ENST0000052663451019_152174318.0DomainGalectin 1
TgeneLGALS8chr1:236754147chr1:236706061ENST0000052797451119_152174360.0DomainGalectin 1


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Fusion Gene Sequence for HEATR1-LGALS8


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 HEATR1-LGALS8


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 HEATR1-LGALS8


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 HEATR1-LGALS8


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