FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 10073

FusionGeneSummary for DLG1_CBFA2T2

check button Fusion gene summary
Fusion gene informationFusion gene name: DLG1_CBFA2T2
Fusion gene ID: 10073
HgeneTgene
Gene symbol

DLG1

CBFA2T2

Gene ID

1739

9139

Gene namediscs large MAGUK scaffold protein 1CBFA2/RUNX1 translocation partner 2
SynonymsDLGH1|SAP-97|SAP97|dJ1061C18.1.1|hdlgEHT|MTGR1|ZMYND3|p85
Cytomap

3q29

20q11.21-q11.22

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 97protein CBFA2T2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-related protein 1myeloid translocation-
Modification date2018052320180523
UniProtAcc

Q12959

O43439

Ensembl transtripts involved in fusion geneENST00000357674, ENST00000314062, 
ENST00000346964, ENST00000419354, 
ENST00000452595, ENST00000422288, 
ENST00000448528, ENST00000443183, 
ENST00000450955, ENST00000392382, 
ENST00000485409, 
ENST00000342704, 
ENST00000375279, ENST00000344201, 
ENST00000397798, ENST00000346541, 
ENST00000397800, ENST00000492345, 
ENST00000359606, ENST00000491618, 
ENST00000543126, 
Fusion gene scores* DoF score20 X 10 X 13=260011 X 10 X 8=880
# samples 2315
** MAII scorelog2(23/2600*10)=-3.49880585697144
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/880*10)=-2.55254102302878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DLG1 [Title/Abstract] AND CBFA2T2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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

TgeneCBFA2T2

GO:0010976

positive regulation of neuron projection development

19026687

TgeneCBFA2T2

GO:0045892

negative regulation of transcription, DNA-templated

23251453


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
TCGARVSARCTCGA-DX-A8BS-01ADLG1chr3

197009550

-CBFA2T2chr20

32232153

+
* 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
Frame-shiftENST00000357674ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000357674ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000357674ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000314062ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000314062ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000314062ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000346964ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000346964ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000346964ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000419354ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000419354ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000419354ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-3CDSENST00000452595ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-3CDSENST00000452595ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000452595ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000422288ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000422288ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000422288ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000448528ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000448528ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000448528ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-3CDSENST00000443183ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-3CDSENST00000443183ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
intron-intronENST00000443183ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000450955ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000450955ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000450955ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000392382ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
Frame-shiftENST00000392382ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5CDS-intronENST00000392382ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-3CDSENST00000485409ENST00000342704DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-3CDSENST00000485409ENST00000375279DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000344201DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000397798DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000346541DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000397800DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000492345DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000359606DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000491618DLG1chr3

197009550

-CBFA2T2chr20

32232153

+
5UTR-intronENST00000485409ENST00000543126DLG1chr3

197009550

-CBFA2T2chr20

32232153

+

Top

FusionProtFeatures for DLG1_CBFA2T2


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

Q12959

CBFA2T2

O43439


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


Top

FusionGeneSequence for DLG1_CBFA2T2


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).

Top

FusionGenePPI for DLG1_CBFA2T2


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, WWC1CBFA2T2WDYHV1, MDFI, RUNX1T1, CBFA2T3, TAL1, RUNX1, GTF2E1, ID3, NEUROG1, TAL2, FBXL19, PRDM14, SIN3A, NCOR1, HDAC3, ATN1, ATXN1L, RERE, APP, LBP, TCP1, CBFA2T2, PDP1, NOTCH3, PRDM6, TCF4


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_CBFA2T2


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_CBFA2T2


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