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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:B4GALT5-HSP90AA1 (FusionGDB2 ID:HG9334TG3320)

Fusion Gene Summary for B4GALT5-HSP90AA1

check button Fusion gene summary
Fusion gene informationFusion gene name: B4GALT5-HSP90AA1
Fusion gene ID: hg9334tg3320
HgeneTgene
Gene symbol

B4GALT5

HSP90AA1

Gene ID

9334

3320

Gene namebeta-1,4-galactosyltransferase 5heat shock protein 90 alpha family class A member 1
SynonymsB4Gal-T5|BETA4-GALT-IV|beta4Gal-T5|beta4GalT-V|gt-VEL52|HEL-S-65p|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp103|Hsp89|Hsp90|LAP-2|LAP2
Cytomap('B4GALT5')('HSP90AA1')

20q13.13

14q32.31

Type of geneprotein-codingprotein-coding
Descriptionbeta-1,4-galactosyltransferase 5UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5beta-1,4-GalT IIbeta-1,4-GalT Iheat shock protein HSP 90-alphaHSP 86LPS-associated protein 2epididymis luminal secretory protein 52epididymis secretory sperm binding protein Li 65pheat shock 86 kDaheat shock 90kD protein 1, alphaheat shock 90kD protein 1, alpha-like 4heat shock
Modification date2020031320200327
UniProtAcc

O43286

.
Ensembl transtripts involved in fusion geneENST00000371711, 
Fusion gene scores* DoF score21 X 14 X 12=352830 X 32 X 8=7680
# samples 2542
** MAII scorelog2(25/3528*10)=-3.81885056089543
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(42/7680*10)=-4.1926450779424
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: B4GALT5 [Title/Abstract] AND HSP90AA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointB4GALT5(48252534)-HSP90AA1(102549908), # 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
TgeneHSP90AA1

GO:0001934

positive regulation of protein phosphorylation

19363271

TgeneHSP90AA1

GO:0007004

telomere maintenance via telomerase

10197982

TgeneHSP90AA1

GO:0031396

regulation of protein ubiquitination

16809764

TgeneHSP90AA1

GO:0032273

positive regulation of protein polymerization

19363271

TgeneHSP90AA1

GO:0045040

protein import into mitochondrial outer membrane

15644312

TgeneHSP90AA1

GO:0051131

chaperone-mediated protein complex assembly

15644312

TgeneHSP90AA1

GO:0051973

positive regulation of telomerase activity

10197982

TgeneHSP90AA1

GO:1902949

positive regulation of tau-protein kinase activity

19363271

TgeneHSP90AA1

GO:1905323

telomerase holoenzyme complex assembly

10197982



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
ChiTaRS5.0N/ABU955750B4GALT5chr20

48252534

-HSP90AA1chr14

102549908

-


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Fusion Gene ORF analysis for B4GALT5-HSP90AA1

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
intron-3CDSENST00000371711ENST00000216281B4GALT5chr20

48252534

-HSP90AA1chr14

102549908

-
intron-3CDSENST00000371711ENST00000334701B4GALT5chr20

48252534

-HSP90AA1chr14

102549908

-
intron-3CDSENST00000371711ENST00000441629B4GALT5chr20

48252534

-HSP90AA1chr14

102549908

-
intron-intronENST00000371711ENST00000558600B4GALT5chr20

48252534

-HSP90AA1chr14

102549908

-

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 B4GALT5-HSP90AA1


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)


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Fusion Protein Features for B4GALT5-HSP90AA1


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/:48252534/:102549908)
- 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
B4GALT5

O43286

.
FUNCTION: Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (By similarity). {ECO:0000250|UniProtKB:Q9JMK0, ECO:0000269|PubMed:24498430}.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

- 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 B4GALT5-HSP90AA1


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 B4GALT5-HSP90AA1


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 B4GALT5-HSP90AA1


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 B4GALT5-HSP90AA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB4GALT5C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneB4GALT5C0087031Juvenile-Onset Still Disease1CTD_human
HgeneB4GALT5C3495559Juvenile arthritis1CTD_human
HgeneB4GALT5C3714758Juvenile psoriatic arthritis1CTD_human
HgeneB4GALT5C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneB4GALT5C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0009178Cocaine withdrawal1PSYGENET
TgeneC0011616Contact Dermatitis1CTD_human
TgeneC0019693HIV Infections1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0162351Contact hypersensitivity1CTD_human
TgeneC0206180Ki-1+ Anaplastic Large Cell Lymphoma1CTD_human
TgeneC0525045Mood Disorders1PSYGENET
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4505456HIV Coinfection1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human