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Fusion gene ID: 1854 |
FusionGeneSummary for ANKRD40_LRRC6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANKRD40_LRRC6 | Fusion gene ID: 1854 | Hgene | Tgene | Gene symbol | ANKRD40 | LRRC6 | Gene ID | 91369 | 23639 |
| Gene name | ankyrin repeat domain 40 | leucine rich repeat containing 6 | |
| Synonyms | - | CILD19|LRTP|TSLRP | |
| Cytomap | 17q21.33 | 8q24.22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ankyrin repeat domain-containing protein 40 | protein tilB homologprotein TILB homologtestis-specific leucine-rich repeat protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6AI12 | Q86X45 | |
| Ensembl transtripts involved in fusion gene | ENST00000285243, | ENST00000519595, ENST00000518642, ENST00000250173, ENST00000520446, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 4 X 6=144 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/27*10)=0.888968687611256 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANKRD40 [Title/Abstract] AND LRRC6 [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 | RV | LUAD | TCGA-L9-A443-01A | ANKRD40 | chr17 | 48774301 | - | LRRC6 | chr8 | 133622507 | - |
| * 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 |
| In-frame | ENST00000285243 | ENST00000519595 | ANKRD40 | chr17 | 48774301 | - | LRRC6 | chr8 | 133622507 | - |
| 5CDS-intron | ENST00000285243 | ENST00000518642 | ANKRD40 | chr17 | 48774301 | - | LRRC6 | chr8 | 133622507 | - |
| 5CDS-intron | ENST00000285243 | ENST00000250173 | ANKRD40 | chr17 | 48774301 | - | LRRC6 | chr8 | 133622507 | - |
| 5CDS-intron | ENST00000285243 | ENST00000520446 | ANKRD40 | chr17 | 48774301 | - | LRRC6 | chr8 | 133622507 | - |
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FusionProtFeatures for ANKRD40_LRRC6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANKRD40 | LRRC6 |
| May play a role in dynein arm assembly, hence essentialfor proper axoneme building for cilia motility.{ECO:0000269|PubMed:23122589}. |
| 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 |
| Hgene | ANKRD40 | chr17:48774301 | chr8:133622507 | ENST00000285243 | - | 4 | 5 | 148_247 | 320 | 369 | Compositional bias | Note=Pro-rich |
| Hgene | ANKRD40 | chr17:48774301 | chr8:133622507 | ENST00000285243 | - | 4 | 5 | 99_106 | 320 | 369 | Compositional bias | Note=Poly-Asp |
| Hgene | ANKRD40 | chr17:48774301 | chr8:133622507 | ENST00000285243 | - | 4 | 5 | 43_72 | 320 | 369 | Repeat | Note=ANK 2 |
| Hgene | ANKRD40 | chr17:48774301 | chr8:133622507 | ENST00000285243 | - | 4 | 5 | 9_38 | 320 | 369 | Repeat | Note=ANK 1 |
| - 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 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 178_204 | 348 | 467 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 178_204 | 348 | 467 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 281_286 | 348 | 467 | Compositional bias | Note=Poly-Lys |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 281_286 | 348 | 467 | Compositional bias | Note=Poly-Lys |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 123_161 | 348 | 467 | Domain | Note=LRRCT |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 301_396 | 348 | 467 | Domain | CS |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 123_161 | 348 | 467 | Domain | Note=LRRCT |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 301_396 | 348 | 467 | Domain | CS |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 22_43 | 348 | 467 | Repeat | Note=LRR 1 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 45_66 | 348 | 467 | Repeat | Note=LRR 2 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 67_88 | 348 | 467 | Repeat | Note=LRR 3 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000250173 | - | 8 | 12 | 89_110 | 348 | 467 | Repeat | Note=LRR 4 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 22_43 | 348 | 467 | Repeat | Note=LRR 1 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 45_66 | 348 | 467 | Repeat | Note=LRR 2 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 67_88 | 348 | 467 | Repeat | Note=LRR 3 |
| Tgene | LRRC6 | chr17:48774301 | chr8:133622507 | ENST00000519595 | - | 8 | 12 | 89_110 | 348 | 467 | Repeat | Note=LRR 4 |
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FusionGeneSequence for ANKRD40_LRRC6 |
| 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_ANKRD40_ENST00000285243_chr17_48774301_-_LRRC6_ENST00000519595_chr8_133622507_-_439aa MNALLEQKEQQERLREAAALGDIREVQKLVESGVDVNSQNEVNGWTCLHWACKRNHGQVVSYLLKSGADKEILTTKGEMPVQLTSRREIR KIMGVEEEDDDDDDDDNLPQLKKESELPFVPNYLANPAFPFIYTPTAEDSAQMQNGGPSTPPASPPADGSPPLLPPGEPPLLGTFPRDHT SLALVQNGDVSAPSAILRTPESTKPGPVCQPPVSQSRSLFSSVPSKPPMSLEPQNGTYAGPAPAFQPFFFTGAFPFNMQELVLKVRIQNP SLRENDFIEIELDRQELTYQELLRVCCCELGVNPDQVEKIRKLPNTLLRKPFQLVLPAEVKPDSSSAKRSQTTGHLVICMPKVGEVITGG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ANKRD40_ENST00000285243_chr17_48774301_-_LRRC6_ENST00000519595_chr8_133622507_-_1317nt ATGAACGCCCTCCTAGAGCAGAAGGAGCAGCAGGAGAGGCTGCGGGAGGCCGCGGCCTTAGGGGACATTCGGGAGGTGCAGAAACTGGTG GAGAGCGGGGTGGATGTGAACTCCCAAAATGAGGTCAACGGCTGGACTTGTTTACACTGGGCATGTAAACGAAACCATGGTCAGGTGGTC TCTTACCTGTTAAAATCAGGAGCTGACAAAGAAATTCTTACCACAAAAGGAGAAATGCCAGTCCAGTTAACATCAAGGAGAGAAATCAGG AAGATTATGGGAGTGGAAGAAGAAGATGATGATGATGATGATGATGACAACCTCCCCCAGCTGAAGAAGGAGTCAGAACTGCCCTTTGTT CCCAACTATTTGGCCAACCCAGCCTTCCCTTTTATCTATACACCCACAGCAGAGGATTCAGCCCAGATGCAGAATGGGGGCCCCTCCACA CCCCCTGCATCACCCCCTGCAGATGGCTCACCTCCATTGCTTCCCCCTGGGGAACCTCCCCTGTTAGGGACCTTTCCCCGGGACCACACC TCTTTGGCACTAGTTCAGAATGGTGATGTGTCGGCCCCCTCTGCCATACTCAGAACACCAGAAAGCACAAAACCGGGTCCTGTTTGTCAG CCACCAGTGAGTCAGAGCCGCTCCCTGTTTTCTTCTGTCCCGTCCAAGCCACCAATGTCTCTGGAGCCTCAAAATGGGACGTATGCAGGA CCAGCGCCAGCATTCCAGCCATTTTTCTTCACTGGAGCATTTCCATTTAATATGCAAGAGCTGGTACTCAAGGTGAGAATTCAGAACCCA TCTCTTCGAGAAAATGATTTCATTGAAATTGAACTGGACCGACAGGAGCTCACCTACCAAGAGTTGCTCAGAGTGTGTTGCTGTGAGCTG GGTGTTAATCCAGATCAAGTGGAGAAGATCAGAAAGTTACCCAATACTCTGTTAAGGAAGCCATTTCAGCTTGTCCTTCCTGCAGAAGTG AAACCCGATAGTAGTTCTGCTAAAAGATCTCAGACAACGGGTCATTTGGTCATCTGCATGCCCAAGGTAGGAGAAGTAATCACAGGTGGT CAGCGAGCATTCAAATCTATGAAAACTACCTCGGACAGGAGCAGAGAACAAACAAATACAAGAAGCAAGCACATGGAGAAACTAGAAGTA GACCCTAGCAAGCACTCATTCCCTGATGTGACTAACATAGTTCAAGAGAAAAAACACACACCCAGAAGACGACCTGAACCCAAAATTATA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ANKRD40_ENST00000285243_chr17_48774301_-_LRRC6_ENST00000519595_chr8_133622507_-_1821nt TTGTCACACTGAACAGGGTCCCCCGGAGCCGGCCTTCGGGAGGCGCGGCCCGGGAGGAGGCCTGGGCCTGCGGGCCGGGAGCAGCAGGGG CGGCCCGCGGGAGGGAGCGGAAGTCCCGGGGCGGGCGCGGGCAGCGGCGCGAGCAGGGCGGGCGAGTTCCGCGCTCCCTCCCCATGGCCG GGAGCGGGCCGCGGCGACGGCGGCGGCGCTGACAGGCCCCGGGCGGGGCGGGGCAGGCGGGCCTGGGCGGGGGCCTGGGGCTGTGGGAAG ATGAACGCCCTCCTAGAGCAGAAGGAGCAGCAGGAGAGGCTGCGGGAGGCCGCGGCCTTAGGGGACATTCGGGAGGTGCAGAAACTGGTG GAGAGCGGGGTGGATGTGAACTCCCAAAATGAGGTCAACGGCTGGACTTGTTTACACTGGGCATGTAAACGAAACCATGGTCAGGTGGTC TCTTACCTGTTAAAATCAGGAGCTGACAAAGAAATTCTTACCACAAAAGGAGAAATGCCAGTCCAGTTAACATCAAGGAGAGAAATCAGG AAGATTATGGGAGTGGAAGAAGAAGATGATGATGATGATGATGATGACAACCTCCCCCAGCTGAAGAAGGAGTCAGAACTGCCCTTTGTT CCCAACTATTTGGCCAACCCAGCCTTCCCTTTTATCTATACACCCACAGCAGAGGATTCAGCCCAGATGCAGAATGGGGGCCCCTCCACA CCCCCTGCATCACCCCCTGCAGATGGCTCACCTCCATTGCTTCCCCCTGGGGAACCTCCCCTGTTAGGGACCTTTCCCCGGGACCACACC TCTTTGGCACTAGTTCAGAATGGTGATGTGTCGGCCCCCTCTGCCATACTCAGAACACCAGAAAGCACAAAACCGGGTCCTGTTTGTCAG CCACCAGTGAGTCAGAGCCGCTCCCTGTTTTCTTCTGTCCCGTCCAAGCCACCAATGTCTCTGGAGCCTCAAAATGGGACGTATGCAGGA CCAGCGCCAGCATTCCAGCCATTTTTCTTCACTGGAGCATTTCCATTTAATATGCAAGAGCTGGTACTCAAGGTGAGAATTCAGAACCCA TCTCTTCGAGAAAATGATTTCATTGAAATTGAACTGGACCGACAGGAGCTCACCTACCAAGAGTTGCTCAGAGTGTGTTGCTGTGAGCTG GGTGTTAATCCAGATCAAGTGGAGAAGATCAGAAAGTTACCCAATACTCTGTTAAGGAAGCCATTTCAGCTTGTCCTTCCTGCAGAAGTG AAACCCGATAGTAGTTCTGCTAAAAGATCTCAGACAACGGGTCATTTGGTCATCTGCATGCCCAAGGTAGGAGAAGTAATCACAGGTGGT CAGCGAGCATTCAAATCTATGAAAACTACCTCGGACAGGAGCAGAGAACAAACAAATACAAGAAGCAAGCACATGGAGAAACTAGAAGTA GACCCTAGCAAGCACTCATTCCCTGATGTGACTAACATAGTTCAAGAGAAAAAACACACACCCAGAAGACGACCTGAACCCAAAATTATA CCAAGTGAGGAAGACCCAACCTTTGAAGACAACCCTGAAGTGCCTCCGCTGATTTGAAACATCTGGCTGCGTTGCCATTGGCTGAGACCC ACCAGGTCCAGTTTTGGTTGGTGTAGAGACCATATGCATATTATTCCTGGGATAAACACAGAGTTATTTGTCAATATCGCTGCTCCAGTG TTTTAACTCTTACTTTGCATAGTAATATCCTTAAGATAGCTTAAAATTAAAATGTATGTCTTAAATGCTATAACTCATCATTTACCTATA |
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FusionGenePPI for ANKRD40_LRRC6 |
| 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 |
| ANKRD40 | VHL, ELAVL1, ELP6, EHBP1L1, TUBGCP3, AHCY, PIN1, RAD23A, SDCBP, ANKRD40, ENO1, NXF1, CTRL, ENDOV, SUMF2, RCBTB1, RBFOX2, RBM24, C1orf94, SOX5, MSX2, LTA, PDDC1, MSI2, ULK4, F12, PIGT, PRSS33, TYSND1, SLC25A48, IRF3 | LRRC6 | SCRIB, CACYBP, TSC22D2, PHLPP2, CHEK1, DHPS, PPP1R7 |
| - 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 ANKRD40_LRRC6 |
| 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 ANKRD40_LRRC6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LRRC6 | C3543826 | CILIARY DYSKINESIA, PRIMARY, 19 | 1 | UNIPROT |
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