![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 40288 |
FusionGeneSummary for UAP1_BCL9 |
![]() |
Fusion gene information | Fusion gene name: UAP1_BCL9 | Fusion gene ID: 40288 | Hgene | Tgene | Gene symbol | UAP1 | BCL9 | Gene ID | 6675 | 607 |
Gene name | UDP-N-acetylglucosamine pyrophosphorylase 1 | B cell CLL/lymphoma 9 | |
Synonyms | AGX|AGX1|AGX2|SPAG2 | LGS | |
Cytomap | 1q23.3 | 1q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | UDP-N-acetylhexosamine pyrophosphorylaseUDP-N-acetylglucosamine diphosphorylase 1UDP-N-acetylhexosamine pyrophosphorylase 1antigen Xsperm associated antigen 2testis tissue sperm-binding protein Li 37a | B-cell CLL/lymphoma 9 proteinB-cell lymphoma 9 proteinbcl-9protein legless homolog | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q16222 | O00512 | |
Ensembl transtripts involved in fusion gene | ENST00000271469, ENST00000367926, ENST00000476240, ENST00000367924, ENST00000367925, | ENST00000234739, ENST00000473292, | |
Fusion gene scores | * DoF score | 7 X 4 X 4=112 | 1 X 1 X 1=1 |
# samples | 6 | 1 | |
** MAII score | log2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-AR-A2LR-01A | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000271469 | ENST00000234739 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
5CDS-intron | ENST00000271469 | ENST00000473292 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
Frame-shift | ENST00000367926 | ENST00000234739 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
5CDS-intron | ENST00000367926 | ENST00000473292 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
intron-3CDS | ENST00000476240 | ENST00000234739 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
intron-intron | ENST00000476240 | ENST00000473292 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
Frame-shift | ENST00000367924 | ENST00000234739 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
5CDS-intron | ENST00000367924 | ENST00000473292 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
Frame-shift | ENST00000367925 | ENST00000234739 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
5CDS-intron | ENST00000367925 | ENST00000473292 | UAP1 | chr1 | 162536138 | + | BCL9 | chr1 | 147090622 | + |
Top |
FusionProtFeatures for UAP1_BCL9 |
![]() |
Hgene | Tgene |
UAP1 | BCL9 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for UAP1_BCL9 |
![]() (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 UAP1_BCL9 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
UAP1 | UAP1, ELAVL1, VASP, THOP1, VPS39, TRIM25, PABPC1, PGM3, SCLY, SDHB, HSPB1, WDR1, FLNA, HNRNPD, SORT1, SGTB, BAG6, JMJD6, NFYA | BCL9 | PYGO1, ELAVL1, PYGO2, WWOX, CTNNB1, EWSR1, TRIM25 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for UAP1_BCL9 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for UAP1_BCL9 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | BCL9 | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | BCL9 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Tgene | BCL9 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | BCL9 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | BCL9 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | BCL9 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |