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Fusion gene ID: 19634 |
FusionGeneSummary for LETM1_POLN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LETM1_POLN | Fusion gene ID: 19634 | Hgene | Tgene | Gene symbol | LETM1 | POLN | Gene ID | 3954 | 353497 |
| Gene name | leucine zipper and EF-hand containing transmembrane protein 1 | DNA polymerase nu | |
| Synonyms | SLC55A1 | POL4P | |
| Cytomap | 4p16.3 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitochondrial proton/calcium exchanger proteinLETM1 and EF-hand domain-containing protein 1, mitochondrialMdm38 homologleucine zipper-EF-hand containing transmembrane protein 1 | DNA polymerase nuDNA polymerase NDNA polymerase POL4Ppolymerase (DNA directed) nupolymerase (DNA) nu | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O95202 | Q7Z5Q5 | |
| Ensembl transtripts involved in fusion gene | ENST00000302787, ENST00000512189, | ENST00000382865, ENST00000511885, ENST00000515357, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 12 X 7 X 9=756 |
| # samples | 6 | 12 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/756*10)=-2.65535182861255 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LETM1 [Title/Abstract] AND POLN [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | DDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift. | ||
| * 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 | LETM1 | GO:0006851 | mitochondrial calcium ion transmembrane transport | 19797662 |
| Hgene | LETM1 | GO:0051560 | mitochondrial calcium ion homeostasis | 19797662 |
| Hgene | LETM1 | GO:0099093 | calcium export from the mitochondrion | 19797662 |
| Tgene | POLN | GO:0019985 | translesion synthesis | 20102227 |
| 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-E2-A15E-01A | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
| * 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 | ENST00000302787 | ENST00000382865 | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
| Frame-shift | ENST00000302787 | ENST00000511885 | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
| 5CDS-intron | ENST00000302787 | ENST00000515357 | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
| intron-3CDS | ENST00000512189 | ENST00000382865 | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
| intron-3CDS | ENST00000512189 | ENST00000511885 | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
| intron-intron | ENST00000512189 | ENST00000515357 | LETM1 | chr4 | 1843074 | - | POLN | chr4 | 2083470 | - |
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FusionProtFeatures for LETM1_POLN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LETM1 | POLN |
| Mitochondrial proton/calcium antiporter that mediatesproton-dependent calcium efflux from mitochondrion(PubMed:19797662). Crucial for the maintenance of mitochondrialtubular networks and for the assembly of the supercomplexes of therespiratory chain (PubMed:18628306). Required for the maintenanceof the tubular shape and cristae organization (PubMed:18628306).In contrast to SLC8B1/NCLX, does not constitute the major factorfor mitochondrial calcium extrusion (PubMed:24898248).{ECO:0000269|PubMed:18628306, ECO:0000269|PubMed:19797662,ECO:0000269|PubMed:24898248}. | DNA polymerase with very low fidelity that catalyzesconsiderable misincorporation by inserting dTTP opposite a Gtemplate, and dGTP opposite a T template (PubMed:16787914,PubMed:17118716). Is the least accurate of the DNA polymerase Afamily (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can performaccurate translesion DNA synthesis (TLS) past a 5S-thymine glycol.Can perform efficient strand displacement past a nick or a gap andgives rise to an amount of product similar to that on non-damagedtemplate. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dTregardless of template sequence (PubMed:25775266). May play a rolein TLS during interstrand cross-link (ICL) repair(PubMed:19908865). May be involved in TLS when genomic replicationis blocked by extremely large major groove DNA lesions. Mayfunction in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linkingagents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates inFANCD2-mediated repair. Forms a complex with HELQ helicase thatparticipates in homologous recombination (HR) repair and isessential for cellular protection against DNA cross-links(PubMed:19995904). {ECO:0000269|PubMed:16787914,ECO:0000269|PubMed:17118716, ECO:0000269|PubMed:19908865,ECO:0000269|PubMed:19995904, ECO:0000269|PubMed:20102227,ECO:0000269|PubMed:25775266}. |
| 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 LETM1_POLN |
| 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 LETM1_POLN |
| 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 |
| LETM1 | ICT1, TBK1, ILF3, C12orf57, SYNCRIP, LATS2, PSMA3, CYP1A1, NTRK1, NDUFA4, COQ9, PTPMT1, C15orf48, PPM1A, USP47, SNRNP27, PCDHGB4, HSD3B2, FGB, MRPS11, LYPD4, RNF19B, ATP6V0D1 | POLN | ATR, FANCD2, POLDIP2, FANCA, FANCG, PCNA, FANCI, RAD51, HELQ, RAD18, BRCA1, BARD1, PALB2, BRCA2, BRIP1, RBBP8 |
| - 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 LETM1_POLN |
| 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 LETM1_POLN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LETM1 | C0026827 | Muscle hypotonia | 1 | CTD_human;HPO |
| Hgene | LETM1 | C0036572 | Seizures | 1 | CTD_human;HPO |
| Hgene | LETM1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | LETM1 | C1956097 | Wolf-Hirschhorn Syndrome | 1 | CTD_human;ORPHANET |
| Hgene | LETM1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| Hgene | LETM1 | C3714756 | Intellectual Disability | 1 | CTD_human |
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