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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10071

FusionGeneSummary for DLG1_BBX

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG1_BBX
Fusion gene ID: 10071
HgeneTgene
Gene symbol

DLG1

BBX

Gene ID

1739

56987

Gene namediscs large MAGUK scaffold protein 1BBX, HMG-box containing
SynonymsDLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlgARTC1|HBP2|HSPC339|MDS001
Cytomap

3q29

3q13.12

Type of geneprotein-codingprotein-coding
Descriptiondisks large homolog 1discs large homolog 1, scribble cell polarity complex componentdiscs, large homolog 1 transcript variant 6-v1discs, large homolog 1 transcript variant 6-v2presynaptic protein SAP97synapse-associated protein 97HMG box transcription factor BBXAg recognized by Treg cells 1HMG box-containing protein 2bobby sox homologx 001 protein
Modification date2018052320180519
UniProtAcc

Q12959

Q8WY36

Ensembl transtripts involved in fusion geneENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 		ENST00000415149, 
ENST00000402543, ENST00000325805, 
ENST00000416476, ENST00000406780, 
ENST00000473542, 
Fusion gene scores* DoF score20 X 10 X 13=260010 X 12 X 6=720
# samples 2314
** MAII scorelog2(23/2600*10)=-3.49880585697144
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DLG1 [Title/Abstract] AND BBX [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneDLG1

GO:0001935

endothelial cell proliferation

14699157

HgeneDLG1

GO:0007015

actin filament organization

14699157

HgeneDLG1

GO:0030866

cortical actin cytoskeleton organization

14699157

HgeneDLG1

GO:0042391

regulation of membrane potential

12970345

HgeneDLG1

GO:0043268

positive regulation of potassium ion transport

12970345

HgeneDLG1

GO:0070830

bicellular tight junction assembly

17332497

HgeneDLG1

GO:0098609

cell-cell adhesion

14699157

HgeneDLG1

GO:1903078

positive regulation of protein localization to plasma membrane

12970345


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVCOADTCGA-G4-6297-01ADLG1chr3

197023217

-BBXchr3

107364683

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000357674ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000357674ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000357674ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000357674ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000357674ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000357674ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000314062ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000314062ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000314062ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000314062ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000314062ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000314062ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000346964ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000346964ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000346964ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000346964ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000346964ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000346964ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000419354ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000419354ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000419354ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000419354ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000419354ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000419354ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000452595ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000452595ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000452595ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000452595ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000452595ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
intron-intronENST00000452595ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000422288ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000422288ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000422288ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000422288ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000422288ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000422288ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000448528ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000448528ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000448528ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000448528ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000448528ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000448528ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000443183ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000443183ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000443183ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000443183ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
intron-5UTRENST00000443183ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
intron-intronENST00000443183ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000450955ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000450955ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000450955ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000450955ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000450955ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000450955ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000392382ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000392382ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000392382ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000392382ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-5UTRENST00000392382ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5CDS-intronENST00000392382ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+
5UTR-5UTRENST00000485409ENST00000415149DLG1chr3

197023217

-BBXchr3

107364683

+
5UTR-5UTRENST00000485409ENST00000402543DLG1chr3

197023217

-BBXchr3

107364683

+
5UTR-5UTRENST00000485409ENST00000325805DLG1chr3

197023217

-BBXchr3

107364683

+
5UTR-5UTRENST00000485409ENST00000416476DLG1chr3

197023217

-BBXchr3

107364683

+
5UTR-5UTRENST00000485409ENST00000406780DLG1chr3

197023217

-BBXchr3

107364683

+
5UTR-intronENST00000485409ENST00000473542DLG1chr3

197023217

-BBXchr3

107364683

+

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FusionProtFeatures for DLG1_BBX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DLG1

Q12959

BBX

Q8WY36

Transcription factor that is necessary for cell cycleprogression from G1 to S phase. {ECO:0000269|PubMed:11680820}.

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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FusionGeneSequence for DLG1_BBX


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DLG1_BBX


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
DLG1KCNA4, ADAM17, KCNJ12, KCNJ4, GPR124, CASK, LIN7A, LIN7C, APBA1, KCNA5, GRIN2A, CAMK2A, GRIA1, BTRC, ACTN2, CACNG2, GRIN2B, EPB41, ATP2B4, CRIPT, DLGAP1, KCNJ6, GRIK2, TJAP1, LRRC1, ERBB4, ATP2B2, EZR, KIF13B, CTNNA1, KCNJ2, GUCY1A2, LCK, KCNA3, MARCH2, AMOT, UBE3A, NET1, KHDRBS1, KCNC1, MAP1A, BAI1, HUWE1, ADAM10, NTRK1, TMEM17, DLG3, KIF26B, MAPK12, PARK2, CDH1, TGFA, PTPRE, PTEN, MPP2, EFNB3, GJB7, PRDM1, GPRC5B, WWC1BBXNEDD4L, ELAVL1, APP, HSP90AA1, HDAC1, RPA3, RPA2, RPA1, SCGN, NIFK, HIST1H2BG, APC, CDC42, RAB5C, S100A4, FOXJ2, ARIH1, H2AFY2, GPATCH4, ZNF512, RSBN1, RPL18A, MECP2, TRIM44, PPP1R15A, ZSCAN31, SPAG1, TRIM25


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

RelatedDrugs for DLG1_BBX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for DLG1_BBX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDLG1C0036341Schizophrenia3CTD_human
HgeneDLG1C0008925Cleft Palate1CTD_human