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Fusion gene ID: 22822 |
FusionGeneSummary for MTPAP_CUBN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTPAP_CUBN | Fusion gene ID: 22822 | Hgene | Tgene | Gene symbol | MTPAP | CUBN | Gene ID | 55149 | 8029 |
| Gene name | mitochondrial poly(A) polymerase | cubilin | |
| Synonyms | PAPD1|SPAX4|TENT6 | IFCR|MGA1|gp280 | |
| Cytomap | 10p11.23 | 10p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | poly(A) RNA polymerase, mitochondrialPAP-associated domain-containing protein 1TUTase 1polynucleotide adenylyltransferaseterminal uridylyltransferase 1 | cubilin460 kDa receptorcubilin (intrinsic factor-cobalamin receptor)cubilin precursor variant 1cubilin precursor variant 2cubilin precursor variant 3intestinal intrinsic factor receptorintrinsic factor-vitamin B12 receptor | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q9NVV4 | O60494 | |
| Ensembl transtripts involved in fusion gene | ENST00000263063, ENST00000358107, ENST00000488290, | ENST00000377833, ENST00000377823, | |
| Fusion gene scores | * DoF score | 2 X 1 X 2=4 | 4 X 4 X 3=48 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MTPAP [Title/Abstract] AND CUBN [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 | MTPAP | GO:0006378 | mRNA polyadenylation | 21292163 |
| 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 | LD | BRCA | TCGA-D8-A142-01A | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
| * 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 | ENST00000263063 | ENST00000377833 | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
| 5CDS-intron | ENST00000263063 | ENST00000377823 | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
| Frame-shift | ENST00000358107 | ENST00000377833 | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
| 5CDS-intron | ENST00000358107 | ENST00000377823 | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
| 5UTR-3CDS | ENST00000488290 | ENST00000377833 | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
| 5UTR-intron | ENST00000488290 | ENST00000377823 | MTPAP | chr10 | 30611320 | - | CUBN | chr10 | 16867081 | - |
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FusionProtFeatures for MTPAP_CUBN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTPAP | CUBN |
| Polymerase that creates the 3' poly(A) tail ofmitochondrial transcripts. Can use all four nucleotides, but hashigher activity with ATP and UTP (in vitro). Plays a role inreplication-dependent histone mRNA degradation. May be involved inthe terminal uridylation of mature histone mRNAs before theirdegradation is initiated. Might be responsible for the creation ofsome UAA stop codons which are not encoded in mtDNA.{ECO:0000269|PubMed:15547249, ECO:0000269|PubMed:15769737,ECO:0000269|PubMed:18172165, ECO:0000269|PubMed:20970105,ECO:0000269|PubMed:21292163}. | Cotransporter which plays a role in lipoprotein, vitaminand iron metabolism, by facilitating their uptake. Binds to ALB,MB, Kappa and lambda-light chains, TF, hemoglobin, GC, SCGB1A1,APOA1, high density lipoprotein, and the GIF-cobalamin complex.The binding of all ligands requires calcium. Serves as importanttransporter in several absorptive epithelia, including intestine,renal proximal tubules and embryonic yolk sac. Interaction withLRP2 mediates its trafficking throughout vesicles and facilitatesthe uptake of specific ligands like GC, hemoglobin, ALB, TF andSCGB1A1. Interaction with AMN controls its trafficking to theplasma membrane and facilitates endocytosis of ligands. May playan important role in the development of the peri-implantationembryo through internalization of APOA1 and cholesterol. Binds toLGALS3 at the maternal-fetal interface.{ECO:0000269|PubMed:10371504, ECO:0000269|PubMed:11606717,ECO:0000269|PubMed:11717447, ECO:0000269|PubMed:14576052,ECO:0000269|PubMed:9572993}. |
| 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 MTPAP_CUBN |
| 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 MTPAP_CUBN |
| 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 |
| MTPAP | CALCOCO2, AZI2, TBK1, ELAVL1, GRSF1, SPACA1, STK25, THBS3, NPM1, RPL10, DYNLL1, FOXI2, FOXS1, NF2, EMILIN1, LRP1, CD79A, YBEY, VWA5A, TSPYL6, LGALS7, EID1, DYNLL2, NCL | CUBN | GC, GIF, SCGB1A1, RRP1B, CUBN, CBL, LRP1, PID1, BRCA1 |
| - 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 MTPAP_CUBN |
| 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 | CUBN | O60494 | DB00200 | Hydroxocobalamin | Cubilin | small molecule | approved |
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RelatedDiseases for MTPAP_CUBN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTPAP | C0025202 | melanoma | 1 | CTD_human |
| Hgene | MTPAP | C3150925 | SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CUBN | C0025202 | melanoma | 1 | CTD_human |
| Tgene | CUBN | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Tgene | CUBN | C1306856 | Megaloblastic anemia due to inborn errors of metabolism | 1 | CTD_human;ORPHANET;UNIPROT |
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