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Fusion gene ID: 15005 |
FusionGeneSummary for GNPTG_RAB40C |
Fusion gene summary |
Fusion gene information | Fusion gene name: GNPTG_RAB40C | Fusion gene ID: 15005 | Hgene | Tgene | Gene symbol | GNPTG | RAB40C | Gene ID | 84572 | 57799 |
Gene name | N-acetylglucosamine-1-phosphate transferase subunit gamma | RAB40C, member RAS oncogene family | |
Synonyms | C16orf27|GNPTAG|LP2537|RJD9 | RARL|RASL8C | |
Cytomap | 16p13.3 | 16p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | N-acetylglucosamine-1-phosphotransferase subunit gammaN-acetylglucosamine-1-phosphate transferase gamma subunitUDP-N-acetylglucosamine-1-phosphotransferase subunit gammaglcNAc-1-phosphotransferase subunit gamma | ras-related protein Rab-40CRAR (RAS like GTPASE) likeRAR likeRAS-like GTPaseRAS-like, family 8, member CSOCS box-containing protein RAR3rar-like proteinras-like protein family member 8C | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9UJJ9 | Q96S21 | |
Ensembl transtripts involved in fusion gene | ENST00000204679, | ENST00000535977, ENST00000539661, ENST00000538492, ENST00000248139, | |
Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 3 X 2 X 3=18 |
# samples | 3 | 3 | |
** MAII score | log2(3/4*10)=2.90689059560852 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GNPTG [Title/Abstract] AND RAB40C [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 | GNPTG | GO:0046835 | carbohydrate phosphorylation | 19955174 |
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 | UCS | TCGA-N5-A4RA-01A | GNPTG | chr16 | 1402307 | + | RAB40C | chr16 | 675432 | + |
* 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 | ENST00000204679 | ENST00000535977 | GNPTG | chr16 | 1402307 | + | RAB40C | chr16 | 675432 | + |
Frame-shift | ENST00000204679 | ENST00000539661 | GNPTG | chr16 | 1402307 | + | RAB40C | chr16 | 675432 | + |
Frame-shift | ENST00000204679 | ENST00000538492 | GNPTG | chr16 | 1402307 | + | RAB40C | chr16 | 675432 | + |
Frame-shift | ENST00000204679 | ENST00000248139 | GNPTG | chr16 | 1402307 | + | RAB40C | chr16 | 675432 | + |
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FusionProtFeatures for GNPTG_RAB40C |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GNPTG | RAB40C |
Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formationof mannose 6-phosphate (M6P) markers on high mannose typeoligosaccharides in the Golgi apparatus. Binds and presents thehigh mannose glycans of the acceptor to the catalytic alpha andbeta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolaseacceptors. {ECO:0000269|PubMed:10712439,ECO:0000269|PubMed:19955174}. | Probable substrate-recognition component of a SCF-likeECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complexwhich mediates the ubiquitination and subsequent proteasomaldegradation of target proteins. {ECO:0000269|PubMed:15601820}. |
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 GNPTG_RAB40C |
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 GNPTG_RAB40C |
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 |
GNPTG | UPF1, PDYN, TAZ, TMEM25, B3GALT2, PTPRK, ISLR, FAM134C, OLFM4, ANAPC15, SPSB3, WDYHV1, GNPTAB, ZPLD1 | RAB40C | CUL5, DCUN1D1, RNF7, TCEB2, TCEB1, RAB40C, RAB40B, RABGGTB, ANKRD27 |
- 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 GNPTG_RAB40C |
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 |
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RelatedDiseases for GNPTG_RAB40C |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GNPTG | C1854896 | Mucolipidosis III Gamma | 2 | CTD_human;ORPHANET;UNIPROT |