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Fusion gene ID: 22276 |
FusionGeneSummary for MOCS2_PTH2R |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MOCS2_PTH2R | Fusion gene ID: 22276 | Hgene | Tgene | Gene symbol | MOCS2 | PTH2R | Gene ID | 4338 | 5746 |
| Gene name | molybdenum cofactor synthesis 2 | parathyroid hormone 2 receptor | |
| Synonyms | MCBPE|MOCO1|MOCODB|MPTS | PTHR2 | |
| Cytomap | 5q11.2 | 2q34 | |
| Type of gene | protein-coding | protein-coding | |
| Description | molybdopterin synthase catalytic subunitmolybdopterin synthase sulfur carrier subunitmolybdenum cofactor biosynthesis protein E | parathyroid hormone 2 receptorPTH2 receptorparathyroid hormone receptor 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O96033 | P49190 | |
| Ensembl transtripts involved in fusion gene | ENST00000361377, ENST00000396954, ENST00000450852, ENST00000510818, ENST00000508922, ENST00000582677, ENST00000584946, ENST00000527216, | ENST00000413482, ENST00000272847, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 4 X 4 X 4=64 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MOCS2 [Title/Abstract] AND PTH2R [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 | MOCS2 | GO:0006777 | Mo-molybdopterin cofactor biosynthetic process | 12732628|15073332 |
| 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 | AA659769 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| * 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-intron | ENST00000361377 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000361377 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000396954 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000396954 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000450852 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000450852 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000510818 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000510818 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000508922 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000508922 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000582677 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000582677 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000584946 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000584946 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000527216 | ENST00000413482 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
| intron-intron | ENST00000527216 | ENST00000272847 | MOCS2 | chr5 | 52402591 | + | PTH2R | chr2 | 209382881 | + |
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FusionProtFeatures for MOCS2_PTH2R |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MOCS2 | PTH2R |
| Acts as a sulfur carrier required for molybdopterinbiosynthesis. Component of the molybdopterin synthase complex thatcatalyzes the conversion of precursor Z into molybdopterin bymediating the incorporation of 2 sulfur atoms into precursor Z togenerate a dithiolene group. In the complex, serves as sulfurdonor by being thiocarboxylated (-COSH) at its C-terminus byMOCS3. After interaction with MOCS2B, the sulfur is thentransferred to precursor Z to form molybdopterin.{ECO:0000255|HAMAP-Rule:MF_03051, ECO:0000269|PubMed:12732628}. | This is a specific receptor for parathyroid hormone. Theactivity of this receptor is mediated by G proteins which activateadenylyl cyclase. PTH2R may be responsible for PTH effects in anumber of physiological systems. It may play a significant role inpancreatic function. PTH2R presence in neurons indicates that itmay function as a neurotransmitter receptor (By similarity).{ECO:0000250}. |
| 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 MOCS2_PTH2R |
| 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 MOCS2_PTH2R |
| 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 MOCS2_PTH2R |
| 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 | PTH2R | P49190 | DB05829 | Parathyroid hormone | Parathyroid hormone 2 receptor | biotech | approved|investigational |
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RelatedDiseases for MOCS2_PTH2R |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MOCS2 | C1854989 | Molybdenum Cofactor Deficiency, Complementation Group B | 2 | ORPHANET;UNIPROT |
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