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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: 40288

FusionGeneSummary for UAP1_BCL9

check button Fusion gene summary
Fusion gene informationFusion gene name: UAP1_BCL9
Fusion gene ID: 40288
HgeneTgene
Gene symbol

UAP1

BCL9

Gene ID

6675

607

Gene nameUDP-N-acetylglucosamine pyrophosphorylase 1B cell CLL/lymphoma 9
SynonymsAGX|AGX1|AGX2|SPAG2LGS
Cytomap

1q23.3

1q21.2

Type of geneprotein-codingprotein-coding
DescriptionUDP-N-acetylhexosamine pyrophosphorylaseUDP-N-acetylglucosamine diphosphorylase 1UDP-N-acetylhexosamine pyrophosphorylase 1antigen Xsperm associated antigen 2testis tissue sperm-binding protein Li 37aB-cell CLL/lymphoma 9 proteinB-cell lymphoma 9 proteinbcl-9protein legless homolog
Modification date2018052320180519
UniProtAcc

Q16222

O00512

Ensembl transtripts involved in fusion geneENST00000271469, ENST00000367926, 
ENST00000476240, ENST00000367924, 
ENST00000367925, 
ENST00000234739, 
ENST00000473292, 
Fusion gene scores* DoF score7 X 4 X 4=1121 X 1 X 1=1
# samples 61
** MAII scorelog2(6/112*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: UAP1 [Title/Abstract] AND BCL9 [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-AR-A2LR-01AUAP1chr1

162536138

+BCL9chr1

147090622

+
* 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-shitENST00000271469ENST00000234739UAP1chr1

162536138

+BCL9chr1

147090622

+
5CDS-intronENST00000271469ENST00000473292UAP1chr1

162536138

+BCL9chr1

147090622

+
Frame-shitENST00000367926ENST00000234739UAP1chr1

162536138

+BCL9chr1

147090622

+
5CDS-intronENST00000367926ENST00000473292UAP1chr1

162536138

+BCL9chr1

147090622

+
intron-3CDSENST00000476240ENST00000234739UAP1chr1

162536138

+BCL9chr1

147090622

+
intron-intronENST00000476240ENST00000473292UAP1chr1

162536138

+BCL9chr1

147090622

+
Frame-shitENST00000367924ENST00000234739UAP1chr1

162536138

+BCL9chr1

147090622

+
5CDS-intronENST00000367924ENST00000473292UAP1chr1

162536138

+BCL9chr1

147090622

+
Frame-shitENST00000367925ENST00000234739UAP1chr1

162536138

+BCL9chr1

147090622

+
5CDS-intronENST00000367925ENST00000473292UAP1chr1

162536138

+BCL9chr1

147090622

+

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FusionProtFeatures for UAP1_BCL9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UAP1

Q16222

BCL9

O00512

Converts UTP and GlcNAc-1-P into UDP-GlcNAc, and UTP andGalNAc-1-P into UDP-GalNAc. Isoform AGX1 has 2 to 3 times higheractivity towards GalNAc-1-P, while isoform AGX2 has 8 times moreactivity towards GlcNAc-1-P. Involved in signal transduction through the Wnt pathway.Promotes beta-catenin's transcriptional activity (By similarity).{ECO:0000250, ECO:0000269|PubMed:11955446}.

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 UAP1_BCL9


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 UAP1_BCL9


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
UAP1UAP1, ELAVL1, VASP, THOP1, VPS39, TRIM25, PABPC1, PGM3, SCLY, SDHB, HSPB1, WDR1, FLNA, HNRNPD, SORT1, SGTB, BAG6, JMJD6, NFYABCL9PYGO1, ELAVL1, PYGO2, WWOX, CTNNB1, EWSR1, 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 UAP1_BCL9


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 UAP1_BCL9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBCL9C0036341Schizophrenia2PSYGENET
TgeneBCL9C0005586Bipolar Disorder1PSYGENET
TgeneBCL9C0033975Psychotic Disorders1PSYGENET
TgeneBCL9C0041696Unipolar Depression1PSYGENET
TgeneBCL9C0919267ovarian neoplasm1CTD_human
TgeneBCL9C1269683Major Depressive Disorder1PSYGENET