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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:NBEA-COLGALT2 (FusionGDB2 ID:57403)

Fusion Gene Summary for NBEA-COLGALT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NBEA-COLGALT2
Fusion gene ID: 57403
HgeneTgene
Gene symbol

NBEA

COLGALT2

Gene ID

26960

23127

Gene nameneurobeachincollagen beta(1-O)galactosyltransferase 2
SynonymsBCL8B|LYST2C1orf17|ColGalT 2|GLT25D2
Cytomap

13q13.3

1q25.3

Type of geneprotein-codingprotein-coding
Descriptionneurobeachinlysosomal-trafficking regulator 2procollagen galactosyltransferase 2glycosyltransferase 25 domain containing 2glycosyltransferase 25 family member 2hydroxylysine galactosyltransferase 2
Modification date2020032820200313
UniProtAcc

Q8NFP9

Q8IYK4

Ensembl transtripts involved in fusion geneENST00000310336, ENST00000379939, 
ENST00000400445, ENST00000540320, 
ENST00000379922, ENST00000461581, 
ENST00000537702, 		ENST00000361927, 
ENST00000367520, ENST00000367521, 
ENST00000486375, ENST00000546159, 
Fusion gene scores* DoF score15 X 15 X 7=15756 X 3 X 5=90
# samples 156
** MAII scorelog2(15/1575*10)=-3.39231742277876
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: NBEA [Title/Abstract] AND COLGALT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNBEA(36046673)-COLGALT2(183947654), # samples:2
Anticipated loss of major functional domain due to fusion event.NBEA-COLGALT2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NBEA-COLGALT2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted 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

check buttonFusion gene breakpoints across NBEA (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 COLGALT2 (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
ChimerDB4PCPGTCGA-QT-A5XO-01ANBEAchr13

36046673

+COLGALT2chr1

183947654

-


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Fusion Gene ORF analysis for NBEA-COLGALT2

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-intronENST00000310336ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000310336ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000379939ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000400445ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
5CDS-intronENST00000540320ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000310336ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000379939ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000400445ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
Frame-shiftENST00000540320ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-3CDSENST00000379922ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-3CDSENST00000461581ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-3CDSENST00000537702ENST00000546159NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000379922ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000461581ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000361927NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000367520NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000367521NBEAchr13

36046673

+COLGALT2chr1

183947654

-
intron-intronENST00000537702ENST00000486375NBEAchr13

36046673

+COLGALT2chr1

183947654

-

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 NBEA-COLGALT2


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 NBEA-COLGALT2


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/:36046673/:183947654)
- 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
NBEA

Q8NFP9

COLGALT2

Q8IYK4

FUNCTION: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). {ECO:0000250}.FUNCTION: Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen. {ECO:0000269|PubMed:19075007}.

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 NBEA-COLGALT2


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 NBEA-COLGALT2


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 NBEA-COLGALT2


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 NBEA-COLGALT2


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