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Fusion gene ID: 19988 |
FusionGeneSummary for LPCAT1_TERT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LPCAT1_TERT | Fusion gene ID: 19988 | Hgene | Tgene | Gene symbol | LPCAT1 | TERT | Gene ID | 79888 | 7015 |
| Gene name | lysophosphatidylcholine acyltransferase 1 | telomerase reverse transcriptase | |
| Synonyms | AGPAT10|AGPAT9|AYTL2|LPCAT-1|PFAAP3|lpcat|lysoPAFAT | CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT | |
| Cytomap | 5p15.33 | 5p15.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysophosphatidylcholine acyltransferase 11-acylglycerophosphocholine O-acyltransferase1-alkylglycerophosphocholine O-acetyltransferaseLPC acyltransferase 1acetyl-CoA:lyso-PAF acetyltransferaseacetyl-CoA:lyso-platelet-activating factor acetyltransfera | telomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2 | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | Q8NF37 | O14746 | |
| Ensembl transtripts involved in fusion gene | ENST00000283415, ENST00000503252, | ENST00000310581, ENST00000296820, ENST00000334602, ENST00000508104, ENST00000522877, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 19 X 3 X 14=798 |
| # samples | 7 | 26 | |
| ** MAII score | log2(7/120*10)=-0.777607578663552 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(26/798*10)=-1.61787712319389 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LPCAT1 [Title/Abstract] AND TERT [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 | LPCAT1 | GO:0036151 | phosphatidylcholine acyl-chain remodeling | 21498505 |
| Tgene | TERT | GO:0001172 | transcription, RNA-templated | 19701182 |
| Tgene | TERT | GO:0006278 | RNA-dependent DNA biosynthetic process | 9398860 |
| Tgene | TERT | GO:0007004 | telomere maintenance via telomerase | 9443919|16043710|17940095|19701182|21531765 |
| Tgene | TERT | GO:0007005 | mitochondrion organization | 21937513 |
| Tgene | TERT | GO:0010629 | negative regulation of gene expression | 11927518 |
| Tgene | TERT | GO:0022616 | DNA strand elongation | 16043710 |
| Tgene | TERT | GO:0030422 | production of siRNA involved in RNA interference | 19701182 |
| Tgene | TERT | GO:0031647 | regulation of protein stability | 24415760|26194824 |
| Tgene | TERT | GO:0032092 | positive regulation of protein binding | 24415760 |
| Tgene | TERT | GO:0032774 | RNA biosynthetic process | 19701182 |
| Tgene | TERT | GO:0051000 | positive regulation of nitric-oxide synthase activity | 11927518 |
| Tgene | TERT | GO:0070200 | establishment of protein localization to telomere | 25589350 |
| Tgene | TERT | GO:0071897 | DNA biosynthetic process | 9398860|19701182 |
| Tgene | TERT | GO:1903704 | negative regulation of production of siRNA involved in RNA interference | 19701182 |
| Tgene | TERT | GO:1904751 | positive regulation of protein localization to nucleolus | 24415760 |
| Tgene | TERT | GO:2000773 | negative regulation of cellular senescence | 11927518 |
| 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 | LUAD | TCGA-05-4402-01A | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| * 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 | ENST00000283415 | ENST00000310581 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| In-frame | ENST00000283415 | ENST00000296820 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| Frame-shift | ENST00000283415 | ENST00000334602 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| Frame-shift | ENST00000283415 | ENST00000508104 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| 5CDS-intron | ENST00000283415 | ENST00000522877 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000503252 | ENST00000310581 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000503252 | ENST00000296820 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000503252 | ENST00000334602 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| intron-3CDS | ENST00000503252 | ENST00000508104 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
| intron-intron | ENST00000503252 | ENST00000522877 | LPCAT1 | chr5 | 1523825 | - | TERT | chr5 | 1282739 | - |
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FusionProtFeatures for LPCAT1_TERT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LPCAT1 | TERT |
| Possesses both acyltransferase and acetyltransferaseactivities (PubMed:16864775, PubMed:21498505). Activity iscalcium-independent (By similarity). Mediates the conversion of 1-acyl-sn-glycero-3-phosphocholine (LPC) into phosphatidylcholine(PC) (PubMed:21498505). Displays a clear preference for saturatedfatty acyl-CoAs, and 1-myristoyl or 1-palmitoyl LPC as acyl donorsand acceptors, respectively (PubMed:16704971). May synthesizephosphatidylcholine in pulmonary surfactant, thereby playing apivotal role in respiratory physiology (PubMed:16864775). Involvedin the regulation of lipid droplet number and size(PubMed:25491198). {ECO:0000250|UniProtKB:Q3TFD2,ECO:0000269|PubMed:16864775, ECO:0000269|PubMed:21498505,ECO:0000269|PubMed:25491198}. | Telomerase is a ribonucleoprotein enzyme essential forthe replication of chromosome termini in most eukaryotes. Activein progenitor and cancer cells. Inactive, or very low activity, innormal somatic cells. Catalytic component of the teleromeraseholoenzyme complex whose main activity is the elongation oftelomeres by acting as a reverse transcriptase that adds simplesequence repeats to chromosome ends by copying a template sequencewithin the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalyticcycle involves primer binding, primer extension and release ofproduct once the template boundary has been reached or nascentproduct translocation followed by further extension. More activeon substrates containing 2 or 3 telomeric repeats. Telomeraseactivity is regulated by a number of factors including telomerasecomplex-associated proteins, chaperones and polypeptide modifiers.Modulates Wnt signaling. Plays important roles in aging andantiapoptosis. {ECO:0000269|PubMed:14963003,ECO:0000269|PubMed:15082768, ECO:0000269|PubMed:15857955,ECO:0000269|PubMed:17026956, ECO:0000269|PubMed:17264120,ECO:0000269|PubMed:17296728, ECO:0000269|PubMed:17548608,ECO:0000269|PubMed:19188162, ECO:0000269|PubMed:19567472,ECO:0000269|PubMed:19571879, ECO:0000269|PubMed:19777057,ECO:0000269|PubMed:9389643}. |
| 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 LPCAT1_TERT |
| 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. |
| >In-frame_LPCAT1_ENST00000283415_chr5_1523825_-_TERT_ENST00000296820_chr5_1282739_-_45aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_LPCAT1_ENST00000283415_chr5_1523825_-_TERT_ENST00000296820_chr5_1282739_-_135nt ATGAGGCTGCGGGGATGCGGACCCCGGGCCGCCCCTGCCTCCAGCGCAGGGGCCAGCGACGCTCGGCTGCTGGCGCCCCCGGGGCGGAAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_LPCAT1_ENST00000283415_chr5_1523825_-_TERT_ENST00000296820_chr5_1282739_-_2466nt CGCGCCTGCGCGCCCGGCCCGCTCCAGCCGCCGCGCATCCTCGGCCCGCGCCCCGAGACCCGCGCCCAGCTAGCCCCGGCCCCGCTCGGC GCCCCAGGCAGCTCGGCTGCGCTCGCCGCGGGACGGCGCGGCCATGAGGCTGCGGGGATGCGGACCCCGGGCCGCCCCTGCCTCCAGCGC AGGGGCCAGCGACGCTCGGCTGCTGGCGCCCCCGGGGCGGAACCCCTTCGTGCACGAGCTGCGCCTCAGCGCCCTGCAGAAGGCCCAGGG GTTGGCTGTGTTCCGGCCGCAGAGCACCGTCTGCGTGAGGAGATCCTGGCCAAGTTCCTGCACTGGCTGATGAGTGTGTACGTCGTCGAG CTGCTCAGGTCTTTCTTTTATGTCACGGAGACCACGTTTCAAAAGAACAGGCTCTTTTTCTACCGGAAGAGTGTCTGGAGCAAGTTGCAA AGCATTGGAATCAGACAGCACTTGAAGAGGGTGCAGCTGCGGGAGCTGTCGGAAGCAGAGGTCAGGCAGCATCGGGAAGCCAGGCCCGCC CTGCTGACGTCCAGACTCCGCTTCATCCCCAAGCCTGACGGGCTGCGGCCGATTGTGAACATGGACTACGTCGTGGGAGCCAGAACGTTC CGCAGAGAAAAGAGGGCCGAGCGTCTCACCTCGAGGGTGAAGGCACTGTTCAGCGTGCTCAACTACGAGCGGGCGCGGCGCCCCGGCCTC CTGGGCGCCTCTGTGCTGGGCCTGGACGATATCCACAGGGCCTGGCGCACCTTCGTGCTGCGTGTGCGGGCCCAGGACCCGCCGCCTGAG CTGTACTTTGTCAAGGTGGATGTGACGGGCGCGTACGACACCATCCCCCAGGACAGGCTCACGGAGGTCATCGCCAGCATCATCAAACCC CAGAACACGTACTGCGTGCGTCGGTATGCCGTGGTCCAGAAGGCCGCCCATGGGCACGTCCGCAAGGCCTTCAAGAGCCACGTCCTACGT CCAGTGCCAGGGGATCCCGCAGGGCTCCATCCTCTCCACGCTGCTCTGCAGCCTGTGCTACGGCGACATGGAGAACAAGCTGTTTGCGGG GATTCGGCGGGACGGGCTGCTCCTGCGTTTGGTGGATGATTTCTTGTTGGTGACACCTCACCTCACCCACGCGAAAACCTTCCTCAGGAC CCTGGTCCGAGGTGTCCCTGAGTATGGCTGCGTGGTGAACTTGCGGAAGACAGTGGTGAACTTCCCTGTAGAAGACGAGGCCCTGGGTGG CACGGCTTTTGTTCAGATGCCGGCCCACGGCCTATTCCCCTGGTGCGGCCTGCTGCTGGATACCCGGACCCTGGAGGTGCAGAGCGACTA CTCCAGCTATGCCCGGACCTCCATCAGAGCCAGTCTCACCTTCAACCGCGGCTTCAAGGCTGGGAGGAACATGCGTCGCAAACTCTTTGG GGTCTTGCGGCTGAAGTGTCACAGCCTGTTTCTGGATTTGCAGGTGAACAGCCTCCAGACGGTGTGCACCAACATCTACAAGATCCTCCT GCTGCAGGCGTACAGGTTTCACGCATGTGTGCTGCAGCTCCCATTTCATCAGCAAGTTTGGAAGAACCCCACATTTTTCCTGCGCGTCAT CTCTGACACGGCCTCCCTCTGCTACTCCATCCTGAAAGCCAAGAACGCAGGGATGTCGCTGGGGGCCAAGGGCGCCGCCGGCCCTCTGCC CTCCGAGGCCGTGCAGTGGCTGTGCCACCAAGCATTCCTGCTCAAGCTGACTCGACACCGTGTCACCTACGTGCCACTCCTGGGGTCACT CAGGACAGCCCAGACGCAGCTGAGTCGGAAGCTCCCGGGGACGACGCTGACTGCCCTGGAGGCCGCAGCCAACCCGGCACTGCCCTCAGA CTTCAAGACCATCCTGGACTGATGGCCACCCGCCCACAGCCAGGCCGAGAGCAGACACCAGCAGCCCTGTCACGCCGGGCTCTACGTCCC AGGGAGGGAGGGGCGGCCCACACCCAGGCCCGCACCGCTGGGAGTCTGAGGCCTGAGTGAGTGTTTGGCCGAGGCCTGCATGTCCGGCTG AAGGCTGAGTGTCCGGCTGAGGCCTGAGCGAGTGTCCAGCCAAGGGCTGAGTGTCCAGCACACCTGCCGTCTTCACTTCCCCACAGGCTG GCGCTCGGCTCCACCCCAGGGCCAGCTTTTCCTCACCAGGAGCCCGGCTTCCACTCCCCACATAGGAATAGTCCATCCCCAGATTCGCCA TTGTTCACCCCTCGCCCTGCCCTCCTTTGCCTTCCACCCCCACCATCCAGGTGGAGACCCTGAGAAGGACCCTGGGAGCTCTGGGAATTT GGAGTGACCAAAGGTGTGCCCTGTACACAGGCGAGGACCCTGCACCTGGATGGGGGTCCCTGTGGGTCAAATTGGGGGGAGGTGCTGTGG |
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FusionGenePPI for LPCAT1_TERT |
| 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 |
| LPCAT1 | SAP25, PCK1, ELAVL1, AUP1, LAMTOR3, ILF3, FAF2, ECT2, MDC1, HIPK4, ILK, BBS2, MSTO1, SLC27A2, DOCK7, DIP2A, NTRK1, TMEM216, NF2, BTRC, GSK3B, MTR, TRIM25, TES | TERT | NCL, MCRS1, SMG6, SMG5, HSP90AA1, XRCC5, XRCC6, TEP1, RELA, AKT1, MTOR, RPS6KB1, PINX1, YWHAZ, YWHAQ, MUS81, PML, MKRN1, NAT10, MDM2, GNL3L, TERF1, PTGES3, POT1, CIB1, STUB1, HSPA1A, DYRK2, UBR5, DDB1, VPRBP, RUVBL1, RUVBL2, TERC, DKC1, SLC7A11, UBE2D3, U2SURP, IREB2, TGFBR2, GLA, SERBP1, DYNLL1, PHF20L1, ATP5B, C19orf40, PFDN1, CCT5, EIF2S1, TIMM21, TUBA1B, PABPC1, ANXA2, DDX51, PBK, STEAP4, ACAA2, ENO1, PPIA, HSPA4, TPP1, TP53, ETV1, ATR, FOXO3, DAXX |
| - 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 LPCAT1_TERT |
| 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 | TERT | O14746 | DB00495 | Zidovudine | Telomerase reverse transcriptase | small molecule | approved |
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RelatedDiseases for LPCAT1_TERT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | TERT | C3553617 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 | 9 | UNIPROT |
| Tgene | TERT | C3151443 | DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 | 6 | UNIPROT |
| Tgene | TERT | C0002874 | Aplastic Anemia | 4 | CTD_human;HPO;UNIPROT |
| Tgene | TERT | C1800706 | Idiopathic Pulmonary Fibrosis | 4 | CTD_human;ORPHANET |
| Tgene | TERT | C2239176 | Liver carcinoma | 4 | CTD_human |
| Tgene | TERT | C0265965 | Dyskeratosis Congenita | 3 | CTD_human;ORPHANET |
| Tgene | TERT | C0017638 | Glioma | 2 | CTD_human |
| Tgene | TERT | C0024121 | Lung Neoplasms | 2 | CTD_human |
| Tgene | TERT | C0030297 | Pancreatic Neoplasm | 2 | CTD_human |
| Tgene | TERT | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| Tgene | TERT | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Tgene | TERT | C0007117 | Basal cell carcinoma | 1 | CTD_human |
| Tgene | TERT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Tgene | TERT | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
| Tgene | TERT | C0010314 | Cri-du-Chat Syndrome | 1 | CTD_human |
| Tgene | TERT | C0022658 | Kidney Diseases | 1 | CTD_human |
| Tgene | TERT | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| Tgene | TERT | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| Tgene | TERT | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | TERT | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
| Tgene | TERT | C0025202 | melanoma | 1 | CTD_human;HPO |
| Tgene | TERT | C0027819 | Neuroblastoma | 1 | CTD_human |
| Tgene | TERT | C0035126 | Reperfusion Injury | 1 | CTD_human |
| Tgene | TERT | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Tgene | TERT | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | TERT | C0206686 | Adrenocortical carcinoma | 1 | CTD_human |
| Tgene | TERT | C0919267 | ovarian neoplasm | 1 | CTD_human |
| Tgene | TERT | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | TERT | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | TERT | C1846142 | HOYERAAL-HREIDARSSON SYNDROME | 1 | CTD_human;ORPHANET |
| Tgene | TERT | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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