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: 3993

FusionGeneSummary for BCAT2_NUCB1

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAT2_NUCB1
Fusion gene ID: 3993
HgeneTgene
Gene symbol

BCAT2

NUCB1

Gene ID

587

4924

Gene namebranched chain amino acid transaminase 2nucleobindin 1
SynonymsBCAM|BCATM|BCT2|PP18CALNUC|NUC
Cytomap

19q13.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionbranched-chain-amino-acid aminotransferase, mitochondrialbranched chain amino-acid transaminase 2, mitochondrialbranched chain aminotransferase 2, mitochondrialplacental protein 18nucleobindin-1
Modification date2018052320180522
UniProtAcc

O15382

Q02818

Ensembl transtripts involved in fusion geneENST00000545387, ENST00000402551, 
ENST00000316273, ENST00000597011, 
ENST00000599246, ENST00000598162, 
ENST00000601496, 		ENST00000405315, 
ENST00000407032, ENST00000485798, 
ENST00000263273, 
Fusion gene scores* DoF score5 X 4 X 4=803 X 4 X 2=24
# samples 56
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/24*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCAT2 [Title/Abstract] AND NUCB1 [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
TCGALDLIHCTCGA-DD-A39X-01ABCAT2chr19

49314241

-NUCB1chr19

49414406

+
* 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-shiftENST00000545387ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000545387ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000545387ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000545387ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-3CDSENST00000402551ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-3CDSENST00000402551ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-intronENST00000402551ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-intronENST00000402551ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000316273ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000316273ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000316273ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000316273ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+
intron-3CDSENST00000597011ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
intron-3CDSENST00000597011ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
intron-intronENST00000597011ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
intron-intronENST00000597011ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000599246ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000599246ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000599246ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000599246ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000598162ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
Frame-shiftENST00000598162ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000598162ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5CDS-intronENST00000598162ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-3CDSENST00000601496ENST00000405315BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-3CDSENST00000601496ENST00000407032BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-intronENST00000601496ENST00000485798BCAT2chr19

49314241

-NUCB1chr19

49414406

+
5UTR-intronENST00000601496ENST00000263273BCAT2chr19

49314241

-NUCB1chr19

49414406

+

Top

FusionProtFeatures for BCAT2_NUCB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAT2

O15382

NUCB1

Q02818

Catalyzes the first reaction in the catabolism of theessential branched chain amino acids leucine, isoleucine, andvaline. May also function as a transporter of branched chainalpha-keto acids. Major calcium-binding protein of the Golgi. May have arole in calcium homeostasis (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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for BCAT2_NUCB1


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 BCAT2_NUCB1


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
BCAT2BCAT2, APP, PTGDS, ALDOA, CREB3, EEF2KMT, C11orf54, ETFA, CAT, UFM1, YBEY, NDUFS6, HSPD1, NIT1, TRIM25NUCB1GNAI2, KLC4, GNAI3, GNAS, HIVEP1, RBL1, SET, GNAI1, MYC, XPO1, PTGS2, CBS, CTPS2, GTF2I, METTL1, XPNPEP1, PRKDC, RAD23B, WARS, HSPA5, REL, FGL1, MMP3, FAM213B, ADCYAP1, DKKL1, MANSC1, FGF3, DDX31, EPHA1, HLA-DPA1, CYP1A1, MMP10


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 BCAT2_NUCB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBCAT2O15382DB00114Pyridoxal PhosphateBranched-chain-amino-acid aminotransferase, mitochondrialsmall moleculeapproved|investigational|nutraceutical
HgeneBCAT2O15382DB00142Glutamic AcidBranched-chain-amino-acid aminotransferase, mitochondrialsmall moleculeapproved|nutraceutical
TgeneNUCB1Q02818DB11093Calcium CitrateNucleobindin-1small moleculeapproved
TgeneNUCB1Q02818DB11348Calcium PhosphateNucleobindin-1small moleculeapproved

Top

RelatedDiseases for BCAT2_NUCB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCAT2C0024776Maple Syrup Urine Disease1CTD_human
HgeneBCAT2C0032927Precancerous Conditions1CTD_human
TgeneNUCB1C0038325Stevens-Johnson Syndrome1CTD_human