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Fusion gene ID: 28016 |
FusionGeneSummary for POMGNT2_CHFR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: POMGNT2_CHFR | Fusion gene ID: 28016 | Hgene | Tgene | Gene symbol | POMGNT2 | CHFR | Gene ID | 84892 | 55743 |
| Gene name | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | checkpoint with forkhead and ring finger domains | |
| Synonyms | AGO61|C3orf39|GTDC2|MDDGA8 | RNF116|RNF196 | |
| Cytomap | 3p22.1 | 12q24.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2glycosyltransferase-like domain containing 2glycosyltransferase-like domain-containing protein 2 | E3 ubiquitin-protein ligase CHFRRING finger protein 196RING-type E3 ubiquitin transferase CHFRcheckpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q8NAT1 | Q96EP1 | |
| Ensembl transtripts involved in fusion gene | ENST00000441964, ENST00000344697, | ENST00000315585, ENST00000266880, ENST00000443047, ENST00000450056, ENST00000537522, ENST00000541837, ENST00000432561, ENST00000541341, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 6 X 6 X 4=144 |
| # samples | 3 | 6 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: POMGNT2 [Title/Abstract] AND CHFR [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 | POMGNT2 | GO:0006493 | protein O-linked glycosylation | 23929950 |
| Tgene | CHFR | GO:0000209 | protein polyubiquitination | 19182791 |
| Tgene | CHFR | GO:0019941 | modification-dependent protein catabolic process | 19182791 |
| 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 |
| ChiTaRS3.1 | AA368045 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| * 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 |
| intron-3CDS | ENST00000441964 | ENST00000315585 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000441964 | ENST00000266880 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000441964 | ENST00000443047 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000441964 | ENST00000450056 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-intron | ENST00000441964 | ENST00000537522 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-5UTR | ENST00000441964 | ENST00000541837 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-5UTR | ENST00000441964 | ENST00000432561 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-intron | ENST00000441964 | ENST00000541341 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000344697 | ENST00000315585 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000344697 | ENST00000266880 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000344697 | ENST00000443047 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-3CDS | ENST00000344697 | ENST00000450056 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-intron | ENST00000344697 | ENST00000537522 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-5UTR | ENST00000344697 | ENST00000541837 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-5UTR | ENST00000344697 | ENST00000432561 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
| intron-intron | ENST00000344697 | ENST00000541341 | POMGNT2 | chr3 | 43120988 | - | CHFR | chr12 | 133454227 | - |
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FusionProtFeatures for POMGNT2_CHFR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| POMGNT2 | CHFR |
| O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in thebiosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-likedomain-containing extracellular proteins with high affinity.{ECO:0000269|PubMed:23929950}. | E3 ubiquitin-protein ligase that functions in theantephase checkpoint by actively delaying passage into mitosis inresponse to microtubule poisons. Acts in early prophase beforechromosome condensation, when the centrosome move apart from eachother along the periphery of the nucleus. Probably involved insignaling the presence of mitotic stress caused by microtubulepoisons by mediating the 'Lys-48'-linked ubiquitination of targetproteins, leading to their degradation by the proteasome. Promotesthe ubiquitination and subsequent degradation of AURKA and PLK1.Probably acts as a tumor suppressor, possibly by mediating thepolyubiquitination of HDAC1, leading to its degradation. May alsopromote the formation of 'Lys-63'-linked polyubiquitin chains andfunctions with the specific ubiquitin-conjugating UBC13-MMS2(UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinatedat 'Lys-63' are usually not targeted for degradation, but arerather involved in signaling cellular stress.{ECO:0000269|PubMed:10935642, ECO:0000269|PubMed:11807090,ECO:0000269|PubMed:11912157, ECO:0000269|PubMed:14562038,ECO:0000269|PubMed:14694445, ECO:0000269|PubMed:18172500,ECO:0000269|PubMed:19182791}. |
| 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 POMGNT2_CHFR |
| 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 POMGNT2_CHFR |
| 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 |
| - 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 POMGNT2_CHFR |
| 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 POMGNT2_CHFR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | POMGNT2 | C3553813 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 | 1 | UNIPROT |
| Tgene | CHFR | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | CHFR | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Tgene | CHFR | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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