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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: 4532

FusionGeneSummary for BTBD3_GCNT2

check button Fusion gene summary
Fusion gene informationFusion gene name: BTBD3_GCNT2
Fusion gene ID: 4532
HgeneTgene
Gene symbol

BTBD3

GCNT2

Gene ID

22903

2651

Gene nameBTB domain containing 3glucosaminyl (N-acetyl) transferase 2 (I blood group)
SynonymsdJ742J24.1CCAT|CTRCT13|GCNT2C|GCNT5|IGNT|II|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1
Cytomap

20p12.2

6p24.3-p24.2

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein 3BTB (POZ) domain containing 3N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseI beta-1,6-N-acetylglucosaminyltransferaseIi blood groupbeta-1,6-N-acetylglucosaminyltransferase 2glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Modification date2018052320180519
UniProtAcc

Q9Y2F9

Q8N0V5

Ensembl transtripts involved in fusion geneENST00000254977, ENST00000399006, 
ENST00000405977, ENST00000378226, 
ENST00000488503, 
ENST00000410107, 
ENST00000397423, ENST00000495262, 
ENST00000379597, ENST00000316170, 
ENST00000265012, 
Fusion gene scores* DoF score5 X 2 X 4=408 X 7 X 4=224
# samples 48
** MAII scorelog2(4/40*10)=0log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTBD3 [Title/Abstract] AND GCNT2 [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

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
TCGALDBRCATCGA-EW-A1PF-01ABTBD3chr20

11900484

+GCNT2chr6

10621584

+
* 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-shiftENST00000254977ENST00000410107BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000254977ENST00000397423BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000254977ENST00000495262BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000254977ENST00000379597BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000254977ENST00000316170BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000254977ENST00000265012BTBD3chr20

11900484

+GCNT2chr6

10621584

+
Frame-shiftENST00000399006ENST00000410107BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000399006ENST00000397423BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000399006ENST00000495262BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000399006ENST00000379597BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000399006ENST00000316170BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000399006ENST00000265012BTBD3chr20

11900484

+GCNT2chr6

10621584

+
Frame-shiftENST00000405977ENST00000410107BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000405977ENST00000397423BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000405977ENST00000495262BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000405977ENST00000379597BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000405977ENST00000316170BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000405977ENST00000265012BTBD3chr20

11900484

+GCNT2chr6

10621584

+
Frame-shiftENST00000378226ENST00000410107BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000378226ENST00000397423BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000378226ENST00000495262BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000378226ENST00000379597BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000378226ENST00000316170BTBD3chr20

11900484

+GCNT2chr6

10621584

+
5CDS-3UTRENST00000378226ENST00000265012BTBD3chr20

11900484

+GCNT2chr6

10621584

+
3UTR-3CDSENST00000488503ENST00000410107BTBD3chr20

11900484

+GCNT2chr6

10621584

+
3UTR-3UTRENST00000488503ENST00000397423BTBD3chr20

11900484

+GCNT2chr6

10621584

+
3UTR-3UTRENST00000488503ENST00000495262BTBD3chr20

11900484

+GCNT2chr6

10621584

+
3UTR-3UTRENST00000488503ENST00000379597BTBD3chr20

11900484

+GCNT2chr6

10621584

+
3UTR-3UTRENST00000488503ENST00000316170BTBD3chr20

11900484

+GCNT2chr6

10621584

+
3UTR-3UTRENST00000488503ENST00000265012BTBD3chr20

11900484

+GCNT2chr6

10621584

+

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FusionProtFeatures for BTBD3_GCNT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTBD3

Q9Y2F9

GCNT2

Q8N0V5

Acts as a key regulator of dendritic field orientationduring development of sensory cortex. Also directs dendritestoward active axon terminals when ectopically expressed (Bysimilarity). {ECO:0000250}. Branching enzyme that converts linear into branchedpoly-N-acetyllactosaminoglycans. Introduces the blood group Iantigen during embryonic development. It is closely associatedwith the development and maturation of erythroid cells.{ECO:0000269|PubMed:7579796, ECO:0000269|PubMed:8449405}. Isoform C: Determines the expression of the blood groupI antigen in erythrocytes. {ECO:0000269|PubMed:12468428}.

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 BTBD3_GCNT2


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 BTBD3_GCNT2


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
BTBD3PLXNB3, ELAVL1, CLTC, SEC16A, GTSE1, TRIM25GCNT2PARK2, ATP2A1, METTL9, GHITM, COL14A1, TRIM68, FAM3C, HLA-DPB1, TMEM79, 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


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RelatedDrugs for BTBD3_GCNT2


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

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RelatedDiseases for BTBD3_GCNT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGCNT2C3805373CATARACT 13 WITH ADULT i PHENOTYPE1UNIPROT