Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ALG6-UBE2U (FusionGDB2 ID:HG29929TG148581)

Fusion Gene Summary for ALG6-UBE2U

check button Fusion gene summary
Fusion gene informationFusion gene name: ALG6-UBE2U
Fusion gene ID: hg29929tg148581
HgeneTgene
Gene symbol

ALG6

UBE2U

Gene ID

29929

148581

Gene nameALG6 alpha-1,3-glucosyltransferaseubiquitin conjugating enzyme E2 U
SynonymsCDG1C-
Cytomap('ALG6')('UBE2U')

1p31.3

1p31.3

Type of geneprotein-codingprotein-coding
Descriptiondolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferaseMan(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferaseasparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)asparagine-linked glycosylation 6 homolog (yeastubiquitin-conjugating enzyme E2 UE2 ubiquitin-conjugating enzyme Utesticular tissue protein Li 216ubiquitin carrier protein Uubiquitin conjugating enzyme E2 U (putative)ubiquitin conjugating enzyme E2U (putative)ubiquitin-protein ligase U
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000263440, ENST00000371108, 
ENST00000494765, 
Fusion gene scores* DoF score10 X 8 X 6=4803 X 3 X 2=18
# samples 104
** MAII scorelog2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ALG6 [Title/Abstract] AND UBE2U [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALG6(63836730)-UBE2U(64707335), # samples:2
Anticipated loss of major functional domain due to fusion event.ALG6-UBE2U seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ALG6-UBE2U seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneALG6

GO:0006487

protein N-linked glycosylation

10924277


check buttonFusion gene breakpoints across ALG6 (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 UBE2U (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
* 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-A7-A6VV-01AALG6chr1

63836730

+UBE2Uchr1

64707335

+


Top

Fusion Gene ORF analysis for ALG6-UBE2U

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-3UTRENST00000263440ENST00000464349ALG6chr1

63836730

+UBE2Uchr1

64707335

+
5CDS-3UTRENST00000371108ENST00000464349ALG6chr1

63836730

+UBE2Uchr1

64707335

+
In-frameENST00000263440ENST00000371076ALG6chr1

63836730

+UBE2Uchr1

64707335

+
In-frameENST00000371108ENST00000371076ALG6chr1

63836730

+UBE2Uchr1

64707335

+
intron-3CDSENST00000494765ENST00000371076ALG6chr1

63836730

+UBE2Uchr1

64707335

+
intron-3UTRENST00000494765ENST00000464349ALG6chr1

63836730

+UBE2Uchr1

64707335

+

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)
ENST00000371108ALG6chr163836730+ENST00000371076UBE2Uchr164707335+68438730547255
ENST00000263440ALG6chr163836730+ENST00000371076UBE2Uchr164707335+58729020837555

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
ENST00000371108ENST00000371076ALG6chr163836730+UBE2Uchr164707335+0.740719260.2592807
ENST00000263440ENST00000371076ALG6chr163836730+UBE2Uchr164707335+0.8597660.14023401

Top

Fusion Genomic Features for ALG6-UBE2U


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)
ALG6chr163836730+UBE2Uchr164707334+0.0098576020.9901424
ALG6chr163836730+UBE2Uchr164707334+0.0098576020.9901424

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%

Top

Fusion Protein Features for ALG6-UBE2U


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/chr1:63836730/chr1:64707335)
- 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
..
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}.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
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+2154_2427508.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215115_13527508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215144_16427508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215173_19327508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215227_24727508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215298_31827508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215324_34427508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215362_38227508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215388_40827508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215438_45827508.0TransmembraneHelical
HgeneALG6chr1:63836730chr1:64707335ENST00000371108+215473_49327508.0TransmembraneHelical
TgeneUBE2Uchr1:63836730chr1:64707335ENST00000371076694_153198227.0DomainUBC core


Top

Fusion Gene Sequence for ALG6-UBE2U


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.
>4034_4034_1_ALG6-UBE2U_ALG6_chr1_63836730_ENST00000263440_UBE2U_chr1_64707335_ENST00000371076_length(transcript)=587nt_BP=290nt
GGATACTTCTACATAGACATAATCAAGTTTTGACTATTTGGAAACCAAGCATCATTAAAATTCTCTCAAACTCCTAATTGCGAAGAATCG
ATAACATTTCAAGAAGTGATAACATTTCTCTGAACAAGAAAAGAAGTGATTGACCACGTTTTAAAAGTACTCTGGCACTGGTGCTGTGTT
TTCTTCCCCTCCCTAAATTTGAAGAACTATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGATGGACAGT
GTCTCTTAATTCTTATTCAGTGCTCAAAGTTCCAAATTTCATTGGACAGTATTACAAATGGAAGAAAATGGATCTACAGCATCAGAAAGA
ATGGAATTTAAAATGAAAAATCTTTCTTTGGAAGCAGCATAGGGGAAGAGCATGAGCTTCAGAGTCAAACAGATGTTGGAGAAATTCTTA
ACCACTCTGAACTTGTTTTTTTATCTGTTAAATGGAGATAACCTTACCTATCTTGCAAAGTTGTTTTGCATTTGACGCTTATTATTTTAT

>4034_4034_1_ALG6-UBE2U_ALG6_chr1_63836730_ENST00000263440_UBE2U_chr1_64707335_ENST00000371076_length(amino acids)=55AA_BP=26

--------------------------------------------------------------
>4034_4034_2_ALG6-UBE2U_ALG6_chr1_63836730_ENST00000371108_UBE2U_chr1_64707335_ENST00000371076_length(transcript)=684nt_BP=387nt
CGGAAGGCCGGAGGGGCAGTCCGCCGCGGGGGCGAGCGCGCATGCGCCTTCCTGGGACCCACGGCAGGCGCGAATCCCAGCGGCCGGCGG
GCGGCGGGGATACTTCTACATAGACATAATCAAGTTTTGACTATTTGGAAACCAAGCATCATTAAAATTCTCTCAAACTCCTAATTGCGA
AGAATCGATAACATTTCAAGAAGTGATAACATTTCTCTGAACAAGAAAAGAAGTGATTGACCACGTTTTAAAAGTACTCTGGCACTGGTG
CTGTGTTTTCTTCCCCTCCCTAAATTTGAAGAACTATGGAGAAATGGTACTTGATGACAGTAGTGGTTTTAATAGGACTAACAGTACGAT
GGACAGTGTCTCTTAATTCTTATTCAGTGCTCAAAGTTCCAAATTTCATTGGACAGTATTACAAATGGAAGAAAATGGATCTACAGCATC
AGAAAGAATGGAATTTAAAATGAAAAATCTTTCTTTGGAAGCAGCATAGGGGAAGAGCATGAGCTTCAGAGTCAAACAGATGTTGGAGAA
ATTCTTAACCACTCTGAACTTGTTTTTTTATCTGTTAAATGGAGATAACCTTACCTATCTTGCAAAGTTGTTTTGCATTTGACGCTTATT

>4034_4034_2_ALG6-UBE2U_ALG6_chr1_63836730_ENST00000371108_UBE2U_chr1_64707335_ENST00000371076_length(amino acids)=55AA_BP=26

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

Top

Fusion Gene PPI Analysis for ALG6-UBE2U


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


Top

Related Drugs for ALG6-UBE2U


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ALG6-UBE2U


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALG6C2930997Congenital disorder of glycosylation type 1C8CTD_human;GENOMICS_ENGLAND;UNIPROT