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:DLG2-XRCC6BP1 (FusionGDB2 ID:23081)

Fusion Gene Summary for DLG2-XRCC6BP1

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG2-XRCC6BP1
Fusion gene ID: 23081
HgeneTgene
Gene symbol

DLG2

XRCC6BP1

Gene ID

4355

91419

Gene namemembrane palmitoylated protein 2ATP23 metallopeptidase and ATP synthase assembly factor homolog
SynonymsDLG2KUB3|XRCC6BP1
Cytomap

17q21.31

12q14.1

Type of geneprotein-codingprotein-coding
DescriptionMAGUK p55 subfamily member 2discs large, homolog 2membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)mitochondrial inner membrane protease ATP23 homologKu70-binding protein 3XRCC6-binding protein 1
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000280241, ENST00000330014, 
ENST00000376104, ENST00000398301, 
ENST00000398309, ENST00000418306, 
ENST00000524982, ENST00000531015, 
ENST00000532653, ENST00000543673, 
ENST00000376106, ENST00000537455, 
ENST00000398304, ENST00000404783, 
ENST00000426717, ENST00000472545, 
ENST00000530800, 		ENST00000546709, 
ENST00000300145, 
Fusion gene scores* DoF score22 X 25 X 7=385018 X 7 X 5=630
# samples 2321
** MAII scorelog2(23/3850*10)=-4.06515267952525
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(21/630*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DLG2 [Title/Abstract] AND XRCC6BP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDLG2(83874504)-XRCC6BP1(58339411), # 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 DLG2 (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 XRCC6BP1 (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
ChimerDB4SARCTCGA-DX-AB2H-01ADLG2chr11

83874504

-XRCC6BP1chr12

58339411

+


Top

Fusion Gene ORF analysis for DLG2-XRCC6BP1

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-intronENST00000280241ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000330014ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000376104ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000398301ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000398309ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000418306ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000524982ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000531015ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000532653ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5CDS-intronENST00000543673ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5UTR-3CDSENST00000376106ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5UTR-3CDSENST00000537455ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5UTR-intronENST00000376106ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
5UTR-intronENST00000537455ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000280241ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000330014ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000398301ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000398309ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000418306ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000524982ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000531015ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000532653ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
Frame-shiftENST00000543673ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
In-frameENST00000376104ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-3CDSENST00000398304ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-3CDSENST00000404783ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-3CDSENST00000426717ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-3CDSENST00000472545ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-3CDSENST00000530800ENST00000300145DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-intronENST00000398304ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-intronENST00000404783ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-intronENST00000426717ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-intronENST00000472545ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+
intron-intronENST00000530800ENST00000546709DLG2chr11

83874504

-XRCC6BP1chr12

58339411

+

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)
ENST00000376104DLG2chr1183874504-ENST00000300145XRCC6BP1chr1258339411+1869936243968241

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
ENST00000376104ENST00000300145DLG2chr1183874504-XRCC6BP1chr1258339411+0.0023496930.9976503

Top

Fusion Genomic Features for DLG2-XRCC6BP1


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)
DLG2chr1183874503-XRCC6BP1chr1258339410+1.01E-050.99998987
DLG2chr1183874503-XRCC6BP1chr1258339410+1.01E-050.99998987

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 DLG2-XRCC6BP1


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/chr11:83874504/chr12:58339411)
- 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
HgeneDLG2chr11:83874504chr12:58339411ENST00000376104-92898_184208976.0DomainPDZ 1
HgeneDLG2chr11:83874504chr12:58339411ENST00000543673-72698_184208976.0DomainPDZ 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDLG2chr11:83874504chr12:58339411ENST00000280241-322193_279142910.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000280241-322421_501142910.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000280241-322536_606142910.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000280241-322680_855142910.0DomainGuanylate kinase-like
HgeneDLG2chr11:83874504chr12:58339411ENST00000280241-32298_184142910.0DomainPDZ 1
HgeneDLG2chr11:83874504chr12:58339411ENST00000376104-928193_279208976.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000376104-928421_501208976.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000376104-928536_606208976.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000376104-928680_855208976.0DomainGuanylate kinase-like
HgeneDLG2chr11:83874504chr12:58339411ENST00000376106-322193_2790335.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000376106-322421_5010335.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000376106-322536_6060335.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000376106-322680_8550335.0DomainGuanylate kinase-like
HgeneDLG2chr11:83874504chr12:58339411ENST00000376106-32298_1840335.0DomainPDZ 1
HgeneDLG2chr11:83874504chr12:58339411ENST00000398309-423193_279103871.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000398309-423421_501103871.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000398309-423536_606103871.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000398309-423680_855103871.0DomainGuanylate kinase-like
HgeneDLG2chr11:83874504chr12:58339411ENST00000398309-42398_184103871.0DomainPDZ 1
HgeneDLG2chr11:83874504chr12:58339411ENST00000418306-220193_27952750.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000418306-220421_50152750.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000418306-220536_60652750.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000418306-220680_85552750.0DomainGuanylate kinase-like
HgeneDLG2chr11:83874504chr12:58339411ENST00000418306-22098_18452750.0DomainPDZ 1
HgeneDLG2chr11:83874504chr12:58339411ENST00000426717-111193_2790335.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000426717-111421_5010335.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000426717-111536_6060335.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000426717-111680_8550335.0DomainGuanylate kinase-like
HgeneDLG2chr11:83874504chr12:58339411ENST00000426717-11198_1840335.0DomainPDZ 1
HgeneDLG2chr11:83874504chr12:58339411ENST00000543673-726193_279208976.0DomainPDZ 2
HgeneDLG2chr11:83874504chr12:58339411ENST00000543673-726421_501208976.0DomainPDZ 3
HgeneDLG2chr11:83874504chr12:58339411ENST00000543673-726536_606208976.0DomainSH3
HgeneDLG2chr11:83874504chr12:58339411ENST00000543673-726680_855208976.0DomainGuanylate kinase-like


Top

Fusion Gene Sequence for DLG2-XRCC6BP1


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.
>23081_23081_1_DLG2-XRCC6BP1_DLG2_chr11_83874504_ENST00000376104_XRCC6BP1_chr12_58339411_ENST00000300145_length(transcript)=1869nt_BP=936nt
ACAGAAGAAAAAAATGAAAGGGACAGCAAGCTGGATTCTGAGTTACTGAGGGGAAGACTCAGCCTGGATTTCAAAACTGAACACTGAAGT
GGTTTGCAACAGTTACCTGGCTCTTGGCCTCAATCCAGCTGGATCAAACTGAGACCTGAAAAGAGATATTGACTCCTGTGGCAGTGGAAA
GACCCAAGAATGCCAGTCAAGAAGACAGGTGGGCCATAAGATACTGACCGAGCTTTATCATTACTGGAAGAATACTGCAAAAAATTAAGG
AAACCAGAGGAGCAGCTGTTGAAAAATGCGGTTAAAAAGGTGATGGGTATCTTTAAGAGCAGCTTATTCCAAGCTTTGCTAGATATCCAA
GAATTTTATGAGGTGACATTGCTAAATTCTCAAAAAAGTTGTGAGCAGAAGATAGAAGAAGCCAATCAAGTTTTACAGAAATGGGAGAAG
ACATCCCTTCTTGCTCCGTGCCATGACAGACTTCAAAAATCTTCAGAGCTTACAGATTGCAGTGGATCAAAGGAAAATGCTTCATGTATT
GAGCAAAATAAAGAAAATCAGAGTTTTGAAAATGAAACTGATGAGACGACAACTCAAAACCAAGGCAGATGCCCAGCCCAGAATTGTTCA
GTGGAAGCCCCTGCTTGGATGCCTGTCCACCACTGTACTAAGTATCGATATCAAGATGAGGACGCTCCACATGATCATTCCTTACCTCGA
CTAACCCACGAAGTAAGAGGCCCAGAACTCGTGCATGTATCAGAAAAGAACCTCTCTCAAATAGAAAATGTCCATGGATATGTCTTGCAG
TCTCATATTTCTCCTCTGAAGGCCAGTCCTGCTCCTATAATTGTCAACACAGATACTTTGGACACAATTCCTTATGTCAATGGGACAGAA
ATTGAATATGAATTTGAAGAAATTACACTGGAGAGGATCCATATGTCAAACTTCTGCTTGATGCTATGAAACACTCAGGTTGTGCTGTTA
ACAAAGATAGACACTTTTCTTGCGAAGACTGTAATGGAAATGTCAGTGGAGGTTTTGATGCTTCAACATCTCAGATAGTTTTGTGCCAGA
ATAATATCCATAATCAGGCCCATATGAACAGAGTGGTCACACACGAGCTTATTCATGCATTTGATCATTGTCGTGCCCATGTCGACTGGT
TCACCAACATCAGACATTTGGCGTGCTCAGAGGTTCGAGCTGCTAACCTTAGTGGAGACTGCTCACTTGTCAATGAAATATTCAGGTTAC
ATTTTGGATTAAAACAACACCACCAGACTTGTGTGCGAGACAGAGCCACTCTTTCTATCCTGGCTGTTAGGAATATCAGCAAAGAAGTAG
CTAAAAAGGCTGTTGATGAAGTTTTTGAATCTTGTTTCAATGACCATGAACCTTTTGGAAGGATCCCACATAACAAGACTTATGCAAGAT
ATGCTCACAGAGACTTTGAAAACCGTGATCGGTATTATTCAAATATATGAGCACAATGACATTTTTATATTACAGAGCTTCCATCATCAT
GAAGAAAAAAAAATTTGGTTCTCAAGTGAACAAACATATAAAATGTAAACAATCCCTACAATCCAGATAAAACAGAGAAGACTGTGATTC
TAGCATATTATCAGAAAAAGTAACTATGGCAAAAAATGAAACTGCTTTAAACTCCAAGGCAGAAATTGTATCTTTATAGCTAACCATTTA
GTAAATAAATACATTACATTTTTGTATTTTAGTCATTTGTTTTTATTACATGTGATTATTTTAAAATTTGATTATGAAACCTGTGAAGTG

>23081_23081_1_DLG2-XRCC6BP1_DLG2_chr11_83874504_ENST00000376104_XRCC6BP1_chr12_58339411_ENST00000300145_length(amino acids)=241AA_BP=
MEEYCKKLRKPEEQLLKNAVKKVMGIFKSSLFQALLDIQEFYEVTLLNSQKSCEQKIEEANQVLQKWEKTSLLAPCHDRLQKSSELTDCS
GSKENASCIEQNKENQSFENETDETTTQNQGRCPAQNCSVEAPAWMPVHHCTKYRYQDEDAPHDHSLPRLTHEVRGPELVHVSEKNLSQI

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

Top

Fusion Gene PPI Analysis for DLG2-XRCC6BP1


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 DLG2-XRCC6BP1


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 DLG2-XRCC6BP1


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