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Fusion gene ID: 39218 |
FusionGeneSummary for TPM1_NMNAT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TPM1_NMNAT1 | Fusion gene ID: 39218 | Hgene | Tgene | Gene symbol | TPM1 | NMNAT1 | Gene ID | 7168 | 64802 |
| Gene name | tropomyosin 1 | nicotinamide nucleotide adenylyltransferase 1 | |
| Synonyms | C15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA | LCA9|NMNAT|PNAT1 | |
| Cytomap | 15q22.2 | 1p36.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tropomyosin alpha-1 chainalpha-tropomyosincardiomyopathy, hypertrophic 3epididymis secretory protein Li 265sarcomeric tropomyosin kappatropomyosin 1 (alpha) | nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1NMN adenylyltransferase 1NMN/NaMN adenylyltransferase 1NaMN adenylyltransferase 1nicotinamide mononucleotide adenylyltransferase 1nicotinate-nucleotide adenylyltransferase 1pyridine nuc | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P09493 | Q9HAN9 | |
| Ensembl transtripts involved in fusion gene | ENST00000288398, ENST00000358278, ENST00000560445, ENST00000403994, ENST00000357980, ENST00000559556, ENST00000559397, ENST00000267996, ENST00000334895, ENST00000404484, ENST00000560959, ENST00000559281, ENST00000317516, | ENST00000403197, ENST00000377205, ENST00000492735, | |
| Fusion gene scores | * DoF score | 6 X 7 X 2=84 | 2 X 2 X 2=8 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/84*10)=-0.070389327891398 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: TPM1 [Title/Abstract] AND NMNAT1 [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 |
| Tgene | NMNAT1 | GO:1990966 | ATP generation from poly-ADP-D-ribose | 27257257 |
| 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 | BQ372419 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| * 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 | ENST00000288398 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000288398 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000288398 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000358278 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000358278 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000358278 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000560445 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000560445 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000560445 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000403994 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000403994 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000403994 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000357980 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000357980 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000357980 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559556 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559556 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559556 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559397 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559397 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559397 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000267996 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000267996 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000267996 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000334895 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000334895 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000334895 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000404484 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000404484 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000404484 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000560959 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000560959 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000560959 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559281 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559281 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000559281 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000317516 | ENST00000403197 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000317516 | ENST00000377205 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
| intron-intron | ENST00000317516 | ENST00000492735 | TPM1 | chr15 | 63348595 | - | NMNAT1 | chr1 | 10009075 | - |
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FusionProtFeatures for TPM1_NMNAT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TPM1 | NMNAT1 |
| Catalyzes the formation of NAD(+) from nicotinamidemononucleotide (NMN) and ATP (PubMed:17402747). Can also use thedeamidated form; nicotinic acid mononucleotide (NaMN) as substratewith the same efficiency (PubMed:17402747). Can use triazofurinmonophosphate (TrMP) as substrate (PubMed:17402747). Alsocatalyzes the reverse reaction, i.e. the pyrophosphorolyticcleavage of NAD(+) (PubMed:17402747). For the pyrophosphorolyticactivity, prefers NAD(+) and NaAD as substrates and degrades NADH,nicotinic acid adenine dinucleotide phosphate (NHD) andnicotinamide guanine dinucleotide (NGD) less effectively(PubMed:17402747). Involved in the synthesis of ATP in thenucleus, together with PARP1, PARG and NUDT5 (PubMed:27257257).Nuclear ATP generation is required for extensive chromatinremodeling events that are energy-consuming (PubMed:27257257).Fails to cleave phosphorylated dinucleotides NADP(+), NADPH andNaADP(+) (PubMed:17402747). Protects against axonal degenerationfollowing mechanical or toxic insults (By similarity).{ECO:0000250|UniProtKB:Q9EPA7, ECO:0000269|PubMed:17402747,ECO:0000269|PubMed:27257257}. |
| 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 TPM1_NMNAT1 |
| 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 TPM1_NMNAT1 |
| 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 TPM1_NMNAT1 |
| 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 |
| Hgene | TPM1 | P09493 | DB11638 | Artenimol | Tropomyosin alpha-1 chain | small molecule | approved|investigational |
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RelatedDiseases for TPM1_NMNAT1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TPM1 | C1861863 | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) | 5 | CTD_human;UNIPROT |
| Hgene | TPM1 | C2678476 | Cardiomyopathy, Dilated, 1y | 2 | CTD_human;UNIPROT |
| Hgene | TPM1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | TPM1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | TPM1 | C0022548 | Keloid | 1 | CTD_human |
| Hgene | TPM1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | TPM1 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | TPM1 | C0949658 | Cardiomyopathy, Hypertrophic, Familial | 1 | CTD_human |
| Tgene | NMNAT1 | C0339527 | Leber Congenital Amaurosis | 4 | CTD_human;ORPHANET |
| Tgene | NMNAT1 | C1837873 | LEBER CONGENITAL AMAUROSIS 9 (disorder) | 4 | UNIPROT |
| Tgene | NMNAT1 | C0029124 | Optic Atrophy | 1 | CTD_human |
| Tgene | NMNAT1 | C0035304 | Retinal Degeneration | 1 | CTD_human |
| Tgene | NMNAT1 | C0242383 | Age related macular degeneration | 1 | CTD_human |
| Tgene | NMNAT1 | C1852767 | Hereditary macular coloboma | 1 | CTD_human |
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