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Fusion gene ID: 33114 |
FusionGeneSummary for SEL1L3_COQ10A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEL1L3_COQ10A | Fusion gene ID: 33114 | Hgene | Tgene | Gene symbol | SEL1L3 | COQ10A | Gene ID | 23231 | 93058 |
| Gene name | SEL1L family member 3 | coenzyme Q10A | |
| Synonyms | Sel-1L3 | - | |
| Cytomap | 4p15.2 | 12q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein sel-1 homolog 3sel-1 suppressor of lin-12-like 3suppressor of lin-12-like protein 3 | coenzyme Q-binding protein COQ10 homolog A, mitochondrialcoenzyme Q10 homolog A | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q68CR1 | Q96MF6 | |
| Ensembl transtripts involved in fusion gene | ENST00000399878, ENST00000264868, ENST00000502949, ENST00000513364, | ENST00000308197, ENST00000433805, ENST00000546544, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SEL1L3 [Title/Abstract] AND COQ10A [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 |
| 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 | SARC | TCGA-DX-A3LW-01A | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| * 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 | ENST00000399878 | ENST00000308197 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000399878 | ENST00000433805 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000399878 | ENST00000546544 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000264868 | ENST00000308197 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000264868 | ENST00000433805 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000264868 | ENST00000546544 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000502949 | ENST00000308197 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| Frame-shift | ENST00000502949 | ENST00000433805 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| In-frame | ENST00000502949 | ENST00000546544 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| intron-3CDS | ENST00000513364 | ENST00000308197 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| intron-3CDS | ENST00000513364 | ENST00000433805 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
| intron-3CDS | ENST00000513364 | ENST00000546544 | SEL1L3 | chr4 | 25803905 | - | COQ10A | chr12 | 56661578 | + |
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FusionProtFeatures for SEL1L3_COQ10A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEL1L3 | COQ10A |
| Required for the function of coenzyme Q in therespiratory chain. May serve as a chaperone or may be involved inthe transport of Q6 from its site of synthesis to the catalyticsites of the respiratory complexes (Probable). {ECO:0000305}. |
| 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 SEL1L3_COQ10A |
| 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_SEL1L3_ENST00000502949_chr4_25803905_-_COQ10A_ENST00000546544_chr12_56661578_+_739aa MVYRDDYFIRHSISVSAVIVRAWITHKYSGRDWNVKWEENLLHAVAKNYTLLQTIPPFERPFKDHQVCLEWNMGYIWNLRANRIPQCPLE NDVVALLGFPYASSGENTGIVKKFPRFRNRELEATRRQRMDYPVFTVSLWLYLLHYCKANLCGILYFVDSNEMYGTPSVFLTEEGYLHIQ MHLVKGEDLAVKTKFIIPLKEWFRLDISFNGGQIVVTTSIGQDLKSYHNQTISFREDFHYNDTAGYFIIGGSRYVAGIEGFFGPLKYYRL RSLHPAQIFNPLLEKQLAEQIKLYYERCAEVQEIVSVYASAAKHGGERQEACHLHNSYLDLQRRYGRPSMCRAFPWEKELKDKHPSLFQA LLEMDLLTVPRNQNESVSEIGGKIFEKAVKRLSSIDGLHQISSIVPFLTDSSCCGYHKASYYLAVFYETGLNVPRDQLQGMLYSLVGGQG SERLSSMNLGYKHYQGIDNYPLDWELSYAYYSNIATKTPLDQHTLQGDQKACLDDLRLGCTLLLLHLQMIEDYEELYGWLLFPLALGFXP PAASSCLGLPRSWRLRLAYLRAVPSWDLLLPSPTSERLTRSVESWGTQCRRCMRWCPTSRSIVSLCPGVRSLWWYPAVRVIXKPSWRLAF HLSWNVTPLQFPWSNLTWSRLFVLMASSSTTXRLFGDSALVFLPILEPALWTFRFPLNFVLCCTPSWPPCFLMRLSNRMLLPLSVGQPPS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SEL1L3_ENST00000502949_chr4_25803905_-_COQ10A_ENST00000546544_chr12_56661578_+_2219nt ATGGTTTACAGAGATGATTATTTCATCAGACATTCCATCTCTGTATCTGCAGTGATAGTACGCGCCTGGATTACTCACAAATACAGTGGC AGAGACTGGAATGTTAAATGGGAGGAAAACTTGCTCCATGCTGTAGCAAAGAATTATACCCTCCTGCAGACCATCCCGCCTTTTGAACGC CCTTTCAAAGATCATCAAGTGTGCCTTGAGTGGAACATGGGTTATATTTGGAACCTTCGGGCAAACAGGATTCCACAGTGTCCTCTGGAA AATGATGTGGTTGCCCTGCTTGGCTTTCCTTATGCCTCCAGTGGAGAAAACACAGGCATTGTCAAGAAGTTCCCGAGGTTTCGGAACCGA GAGCTGGAGGCCACTCGACGCCAGAGGATGGATTACCCAGTGTTTACTGTTTCATTGTGGCTTTATTTACTCCATTATTGCAAGGCCAAC CTCTGTGGGATTCTGTACTTTGTTGACTCTAATGAGATGTACGGCACACCTTCTGTATTTCTTACGGAAGAGGGCTATTTGCATATTCAG ATGCATCTTGTCAAAGGGGAAGACCTTGCTGTAAAAACTAAATTCATCATACCTTTGAAGGAGTGGTTTCGACTGGATATCTCTTTTAAC GGAGGCCAGATAGTAGTAACCACTAGCATTGGACAGGATTTGAAAAGCTACCACAATCAGACCATTAGCTTCCGGGAGGATTTCCATTAT AATGACACAGCTGGGTACTTCATTATTGGAGGGAGCAGGTATGTGGCTGGCATTGAAGGGTTTTTTGGACCCCTGAAGTACTATCGCCTT CGCAGTCTGCACCCCGCCCAGATTTTTAATCCCCTCCTTGAGAAGCAACTTGCTGAACAAATCAAGTTATATTATGAAAGGTGTGCTGAG GTTCAAGAAATAGTATCTGTGTATGCATCTGCAGCAAAGCACGGGGGCGAGAGACAAGAAGCATGCCACCTCCACAACTCCTACCTGGAC CTCCAGCGCAGGTATGGGAGACCCTCGATGTGCAGAGCCTTCCCCTGGGAGAAGGAGCTGAAAGACAAACACCCCAGCTTGTTCCAGGCA TTGCTGGAGATGGATCTGCTGACCGTGCCAAGGAACCAAAATGAATCTGTATCAGAAATCGGTGGGAAGATATTTGAGAAGGCTGTAAAG AGACTCTCTAGCATTGATGGTCTTCACCAAATTAGCTCTATCGTCCCCTTTCTGACGGATTCCAGCTGCTGTGGATACCATAAAGCATCC TACTACCTTGCAGTCTTTTATGAGACTGGATTAAATGTTCCTCGGGATCAGCTGCAGGGCATGTTGTATAGTTTGGTTGGAGGCCAGGGG AGTGAGAGGCTGTCTTCAATGAATCTTGGGTATAAACACTACCAGGGTATTGACAACTACCCCCTGGACTGGGAACTGTCGTATGCCTAC TACAGCAACATTGCCACCAAGACACCCCTTGACCAGCACACACTGCAAGGAGATCAGAAAGCTTGTTTGGACGACCTTCGTCTGGGATGC ACTCTTCTTCTCCTTCACCTACAAATGATAGAGGATTACGAAGAACTATACGGTTGGCTCCTCTTTCCTTTGGCCTTAGGTTTCTGACCT CCTGCAGCCTCCTCTTGCCTCGGGCTGCCCAGATCTTGGCGGCTGAGGCTGGCTTACCTTCGAGCCGTTCCTTCATGGGATTTGCTGCTC CCTTCACCAACAAGCGAAAGGCTTACTCGGAGCGTAGAATCATGGGGTACTCAATGCAGGAGATGTATGAGGTGGTGTCCAACGTCCAGG AGTATCGTGAGTTTGTGCCCTGGTGTAAGAAGTCTCTGGTGGTATCCAGCCGTAAGGGTCATTTGAAAGCCCAGCTGGAGGTTGGCTTTC CACCTGTCATGGAACGTTACACCTCTGCAGTTTCCATGGTCAAACCTCACATGGTCAAGGCTGTTTGTACTGATGGCAAGCTCTTCAACC ACTTAGAGACTATTTGGCGATTCAGCCCTGGTATTCCTGCCTATCCTCGAACCTGCACTGTGGACTTTTCGATTTCCTTTGAATTTCGTT CTCTGCTGCACTCCCAGCTGGCCACCATGTTTTTTGATGAGGTTGTCAAACAGAATGTTGCTGCCTTTGAGCGTCGGGCAGCCACCAAGT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SEL1L3_ENST00000502949_chr4_25803905_-_COQ10A_ENST00000546544_chr12_56661578_+_3154nt CACACTCGCCCTGCGCCCTGCGGGAATGGCGCCCCGGCCAAAAAAGCAACCAGACAAAAACCCATTGCACGGGCGGGAACTGGTCTGTGC GACCCGCAAAAGGGAATGTTGTACCATCTTTGGGTAGGCAGACTTCCCTGACGACATCAGTGATACCCAAAGCTGAGCAGAGCGTGGCTT ACAAAGACTTTATTTATTTTACTGTCTTTGAAGGAAACGTTCGCAACGTTTCTGAAGTCTCGGTTGAGTATTTATGCTCTCAGCCTTGTG TTGTCAATTTGGAAGCAGTTGTTTCATCTGAGTTCAGAAGTAGCATTCCCGTGTACAAAAAAAGGTGGAAGAATGAGAAACATCTTCACA CCAGCAGGACACAAATAGTACATGTGAAATTTCCAAGCATTATGGTTTACAGAGATGATTATTTCATCAGACATTCCATCTCTGTATCTG CAGTGATAGTACGCGCCTGGATTACTCACAAATACAGTGGCAGAGACTGGAATGTTAAATGGGAGGAAAACTTGCTCCATGCTGTAGCAA AGAATTATACCCTCCTGCAGACCATCCCGCCTTTTGAACGCCCTTTCAAAGATCATCAAGTGTGCCTTGAGTGGAACATGGGTTATATTT GGAACCTTCGGGCAAACAGGATTCCACAGTGTCCTCTGGAAAATGATGTGGTTGCCCTGCTTGGCTTTCCTTATGCCTCCAGTGGAGAAA ACACAGGCATTGTCAAGAAGTTCCCGAGGTTTCGGAACCGAGAGCTGGAGGCCACTCGACGCCAGAGGATGGATTACCCAGTGTTTACTG TTTCATTGTGGCTTTATTTACTCCATTATTGCAAGGCCAACCTCTGTGGGATTCTGTACTTTGTTGACTCTAATGAGATGTACGGCACAC CTTCTGTATTTCTTACGGAAGAGGGCTATTTGCATATTCAGATGCATCTTGTCAAAGGGGAAGACCTTGCTGTAAAAACTAAATTCATCA TACCTTTGAAGGAGTGGTTTCGACTGGATATCTCTTTTAACGGAGGCCAGATAGTAGTAACCACTAGCATTGGACAGGATTTGAAAAGCT ACCACAATCAGACCATTAGCTTCCGGGAGGATTTCCATTATAATGACACAGCTGGGTACTTCATTATTGGAGGGAGCAGGTATGTGGCTG GCATTGAAGGGTTTTTTGGACCCCTGAAGTACTATCGCCTTCGCAGTCTGCACCCCGCCCAGATTTTTAATCCCCTCCTTGAGAAGCAAC TTGCTGAACAAATCAAGTTATATTATGAAAGGTGTGCTGAGGTTCAAGAAATAGTATCTGTGTATGCATCTGCAGCAAAGCACGGGGGCG AGAGACAAGAAGCATGCCACCTCCACAACTCCTACCTGGACCTCCAGCGCAGGTATGGGAGACCCTCGATGTGCAGAGCCTTCCCCTGGG AGAAGGAGCTGAAAGACAAACACCCCAGCTTGTTCCAGGCATTGCTGGAGATGGATCTGCTGACCGTGCCAAGGAACCAAAATGAATCTG TATCAGAAATCGGTGGGAAGATATTTGAGAAGGCTGTAAAGAGACTCTCTAGCATTGATGGTCTTCACCAAATTAGCTCTATCGTCCCCT TTCTGACGGATTCCAGCTGCTGTGGATACCATAAAGCATCCTACTACCTTGCAGTCTTTTATGAGACTGGATTAAATGTTCCTCGGGATC AGCTGCAGGGCATGTTGTATAGTTTGGTTGGAGGCCAGGGGAGTGAGAGGCTGTCTTCAATGAATCTTGGGTATAAACACTACCAGGGTA TTGACAACTACCCCCTGGACTGGGAACTGTCGTATGCCTACTACAGCAACATTGCCACCAAGACACCCCTTGACCAGCACACACTGCAAG GAGATCAGTTTCTGACCTCCTGCAGCCTCCTCTTGCCTCGGGCTGCCCAGATCTTGGCGGCTGAGGCTGGCTTACCTTCGAGCCGTTCCT TCATGGGATTTGCTGCTCCCTTCACCAACAAGCGAAAGGCTTACTCGGAGCGTAGAATCATGGGGTACTCAATGCAGGAGATGTATGAGG TGGTGTCCAACGTCCAGGAGTATCGTGAGTTTGTGCCCTGGTGTAAGAAGTCTCTGGTGGTATCCAGCCGTAAGGGTCATTTGAAAGCCC AGCTGGAGGTTGGCTTTCCACCTGTCATGGAACGTTACACCTCTGCAGTTTCCATGGTCAAACCTCACATGGTCAAGGCTGTTTGTACTG ATGGCAAGCTCTTCAACCACTTAGAGACTATTTGGCGATTCAGCCCTGGTATTCCTGCCTATCCTCGAACCTGCACTGTGGACTTTTCGA TTTCCTTTGAATTTCGTTCTCTGCTGCACTCCCAGCTGGCCACCATGTTTTTTGATGAGGTTGTCAAACAGAATGTTGCTGCCTTTGAGC GTCGGGCAGCCACCAAGTTTGGTCCAGAAACAGCCATCCCCCGTGAACTGATGTTCCATGAGGTGCACCAGACTTGAGGCAAGGGATTGC TCCCTGACCTCCCTTCTACCCCACTTCCCTACACAATTCTCTTATTTATTTGGTTTGGCTCCTGTTCCAATTTGAAAGGAGTCTGTGTTC ATAATACTGTTTCTCCTCTCAATTTCCCAGAAATTGGGTTCTATGCTGGCTGGAAATGTTGGGGGAAAGAGAAGGCAAAGGATGTGGAAA TGAGATGTGCTTAGGAAAGGGTCAGGCCCATCGTAGGAGCACCATATGCCTGCAGCCTTTTCACTACGAATTAGAATAAGGACTATGTGG TTGTCTCTGGACCTTATCAAGACACCTTAGTGTCTGACCAGGGGACGATAGTAACTTTTCTAAGGATTGAATAAATTGAGCTTTTCTTCT GGCACAGAGGTACTGAGTGGTAAGTAACTTTTACCCTGCCTGAGATTCCTCAGGAGAAAAGGCAACCTGCCTCCAGCCTGAAATACATAA AGCCTCATTTTAAGACTGTAAGTCCATGCTGCCTGGCTACTAGAGAGCAAGGGGCTTTCTTACCACCAGTGCTGAGGAGAAAAGTACTGA ACGGAAACGGAGTTGTCTTTGTACTCTTGAGTTGTACCTTATTCTTCCACTTGGCCTGAGTTTTTATAAAATTTCAATAAATTGTGACAG |
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FusionGenePPI for SEL1L3_COQ10A |
| 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 |
| SEL1L3 | TUBB3, FBXO6, PLTP, SCGB1D1, LAMP3, FAM63A | COQ10A | PMPCB, PMPCA, ECH1 |
| - 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 SEL1L3_COQ10A |
| 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 SEL1L3_COQ10A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | COQ10A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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