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Fusion gene ID: 40157 |
FusionGeneSummary for TULP3_UGCG |
Fusion gene summary |
Fusion gene information | Fusion gene name: TULP3_UGCG | Fusion gene ID: 40157 | Hgene | Tgene | Gene symbol | TULP3 | UGCG | Gene ID | 7289 | 7357 |
Gene name | tubby like protein 3 | UDP-glucose ceramide glucosyltransferase | |
Synonyms | TUBL3 | GCS|GLCT1 | |
Cytomap | 12p13.33 | 9q31.3 | |
Type of gene | protein-coding | protein-coding | |
Description | tubby-related protein 3 | ceramide glucosyltransferaseUDP-glucose:N-acylsphingosine D-glucosyltransferaseglucosylceramide synthase | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O75386 | Q16739 | |
Ensembl transtripts involved in fusion gene | ENST00000448120, ENST00000397132, | ENST00000374279, ENST00000495085, | |
Fusion gene scores | * DoF score | 8 X 5 X 6=240 | 4 X 2 X 4=32 |
# samples | 7 | 4 | |
** MAII score | log2(7/240*10)=-1.77760757866355 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TULP3 [Title/Abstract] AND UGCG [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | TULP3 | GO:0008277 | regulation of G-protein coupled receptor protein signaling pathway | 20889716 |
Hgene | TULP3 | GO:0045879 | negative regulation of smoothened signaling pathway | 20889716 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-DX-A1KZ-01A | TULP3 | chr12 | 3043727 | + | UGCG | chr9 | 114676885 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000448120 | ENST00000374279 | TULP3 | chr12 | 3043727 | + | UGCG | chr9 | 114676885 | + |
5CDS-3UTR | ENST00000448120 | ENST00000495085 | TULP3 | chr12 | 3043727 | + | UGCG | chr9 | 114676885 | + |
Frame-shift | ENST00000397132 | ENST00000374279 | TULP3 | chr12 | 3043727 | + | UGCG | chr9 | 114676885 | + |
5CDS-3UTR | ENST00000397132 | ENST00000495085 | TULP3 | chr12 | 3043727 | + | UGCG | chr9 | 114676885 | + |
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FusionProtFeatures for TULP3_UGCG |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TULP3 | UGCG |
Negative regulator of the Shh signaling transductionpathway: recruited to primary cilia via association with the IFTcomplex A (IFT-A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependentbasal repression machinery in Shh signaling. Binds tophosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required toregulate ciliary G protein-coupled receptor trafficking. Notinvolved in ciliogenesis. {ECO:0000269|PubMed:11375483,ECO:0000269|PubMed:20889716}. | Catalyzes the first glycosylation step inglycosphingolipid biosynthesis, the transfer of glucose toceramide. May also serve as a "flippase".{ECO:0000269|PubMed:8643456}. |
Retention 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 . * 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 |
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FusionGeneSequence for TULP3_UGCG |
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 TULP3_UGCG |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
TULP3 | SIRT1, MAGEA6, PSTPIP1, ROPN1, ANKRD54, KRTAP10-7, KRTAP10-1, KRTAP10-5, CTDSPL, TTC21B, WDR35, LYSMD1, WDR19, IFT43, IFT140, ARIH1, FOXK2, IFT122, GNL1, KANSL2, BCR, PDLIM5, FOXK1, ARIH2, MCRS1, PML, PPP1R12A, PHKB, DCAF16, RAD18, NUMB, PIP4K2C, CAV3, GGPS1, USP7, WAPAL, KBTBD7, OBSL1, RNF138, PIP4K2B, MTMR3, THNSL1, MAPK9, TUB, PARN, JMJD6, KLHL42, ANKHD1, MAPK3, BACH2, DPH1, GTF2I, RALB, EXOC3 | UGCG | RTN1, RTN3, APP, TSPAN3, TMEM231, TNFRSF10B, HEPACAM2, PICK1, CHMP4B, C16orf58, TNFRSF10A, CD83, MRAP2, SLC20A1, PTGIR, TRIM25 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TULP3_UGCG |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | UGCG | Q16739 | DB00419 | Miglustat | Ceramide glucosyltransferase | small molecule | approved |
Tgene | UGCG | Q16739 | DB09039 | Eliglustat | Ceramide glucosyltransferase | small molecule | approved |
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RelatedDiseases for TULP3_UGCG |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | UGCG | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | UGCG | C0151744 | Myocardial Ischemia | 1 | CTD_human |