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Fusion gene ID: 10144 |
FusionGeneSummary for DMC1_DNAL4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DMC1_DNAL4 | Fusion gene ID: 10144 | Hgene | Tgene | Gene symbol | DMC1 | DNAL4 | Gene ID | 283987 | 10126 |
| Gene name | HID1 domain containing | dynein axonemal light chain 4 | |
| Synonyms | 17orf28|C17orf28|DMC1|HID-1 | MRMV3|PIG27 | |
| Cytomap | 17q25.1 | 22q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein HID1HID1 domain-containing proteinUPF0663 transmembrane protein C17orf28down-regulated in multiple cancers 1downregulated in multiple cancer 1protein hid-1 homolog | dynein light chain 4, axonemaldynein light chain, outer arm 4dynein, axonemal, light polypeptide 4proliferation-inducing gene 27proliferation-inducing protein 27 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14565 | O96015 | |
| Ensembl transtripts involved in fusion gene | ENST00000216024, ENST00000428462, ENST00000464842, | ENST00000216068, ENST00000486019, ENST00000406199, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 2 X 2=12 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DMC1 [Title/Abstract] AND DNAL4 [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 | DMC1 | GO:0006886 | intracellular protein transport | 21337012 |
| Hgene | DMC1 | GO:0031001 | response to brefeldin A | 21337012 |
| 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 | BRCA | TCGA-BH-A0BC-01A | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| * 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 | ENST00000216024 | ENST00000216068 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| 5CDS-intron | ENST00000216024 | ENST00000486019 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| 5CDS-intron | ENST00000216024 | ENST00000406199 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| In-frame | ENST00000428462 | ENST00000216068 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| 5CDS-intron | ENST00000428462 | ENST00000486019 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| 5CDS-intron | ENST00000428462 | ENST00000406199 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| intron-3CDS | ENST00000464842 | ENST00000216068 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| intron-intron | ENST00000464842 | ENST00000486019 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
| intron-intron | ENST00000464842 | ENST00000406199 | DMC1 | chr22 | 38962595 | - | DNAL4 | chr22 | 39177014 | - |
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FusionProtFeatures for DMC1_DNAL4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DMC1 | DNAL4 |
| May participate in meiotic recombination, specificallyin homologous strand assimilation, which is required for theresolution of meiotic double-strand breaks. {ECO:0000250}. | Force generating protein of respiratory cilia. Producesforce towards the minus ends of microtubules. Dynein has ATPaseactivity (By similarity). {ECO:0000250}. |
| 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 DMC1_DNAL4 |
| 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_DMC1_ENST00000428462_chr22_38962595_-_DNAL4_ENST00000216068_chr22_39177014_-_164aa MKEDQVVAEEPGFQDEEESLFQDIDLLQKHGINVADIKKLKSVGICTIKGIQMTTRRALCNVKGLSEAKVDKIKEAANKLIHSDMPEEMR |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_DMC1_ENST00000428462_chr22_38962595_-_DNAL4_ENST00000216068_chr22_39177014_-_492nt ATGAAGGAGGATCAAGTTGTGGCGGAAGAACCAGGATTCCAAGATGAAGAGGAATCTTTGTTTCAAGATATTGACCTGTTACAGAAACAT GGAATTAACGTGGCTGACATTAAGAAACTGAAATCAGTAGGAATCTGTACCATCAAAGGTATACAGATGACAACAAGAAGAGCTCTATGC AATGTCAAAGGACTCTCAGAAGCCAAAGTAGACAAGATTAAAGAGGCAGCGAACAAACTAATTCACTCGGACATGCCAGAGGAGATGCGC GTGGAGACCATGGAGCTATGTGTCACAGCCTGTGAGAAATTCTCCAACAACAACGAGAGCGCCGCCAAGATGATCAAAGAGACAATGGAC AAGAAGTTCGGCTCCTCCTGGCACGTGGTGATCGGCGAGGGCTTTGGGTTTGAGATCACCCACGAGGTGAAGAACCTCCTCTACCTGTAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_DMC1_ENST00000428462_chr22_38962595_-_DNAL4_ENST00000216068_chr22_39177014_-_1586nt CTCATCTTTCCAAGCTAAATGCTTCTCTTACTGTCCTTCTAGTCCTTGTTGACTTTGAAATGAAATCAGAGGCCCCTGGACAAAGGACTA CTTCTTACATAATATTTCTTATTTTCCCAGAAGTGATTATTTTTCTGTTGCCCACTTTTCAATATGAAGGAGGATCAAGTTGTGGCGGAA GAACCAGGATTCCAAGATGAAGAGGAATCTTTGTTTCAAGATATTGACCTGTTACAGAAACATGGAATTAACGTGGCTGACATTAAGAAA CTGAAATCAGTAGGAATCTGTACCATCAAAGGTATACAGATGACAACAAGAAGAGCTCTATGCAATGTCAAAGGACTCTCAGAAGCCAAA GTAGACAAGATTAAAGAGGCAGCGAACAAACTAATTCACTCGGACATGCCAGAGGAGATGCGCGTGGAGACCATGGAGCTATGTGTCACA GCCTGTGAGAAATTCTCCAACAACAACGAGAGCGCCGCCAAGATGATCAAAGAGACAATGGACAAGAAGTTCGGCTCCTCCTGGCACGTG GTGATCGGCGAGGGCTTTGGGTTTGAGATCACCCACGAGGTGAAGAACCTCCTCTACCTGTACTTCGGGGGCACCCTGGCTGTGTGCGTC TGGAAGTGCTCCTGACACTCTGTCCCCTGCCCCGTCCCCTGCAGGGCCTTTTCCTGCCACTCATCTGGGGTGGGGAGCAGCCCTAGGCAG GTCCTGGTTTTTCCAAGGAGAGTTGGGGTCTTTTCTTTTTGTCTTTGTGTACCAGTTTCCTGAGCCACGCCCAGTGTGTGAACTTGACAT CTCCATCCCCAGGCTCTCAACCGTCTCCCTCGGAGTCTCAGGGTGTGGACGGGGCAGCGGGCATGGGTCTGTGTGGGAGACGTGGGGTGG GGCGGTGTGACAGGGTAGAGGAGGTGGGAGATGAGATCTTCCGCACAGGAACACGCCAGTCCCCCTTTCTCCAGGGCTGCCTTCCCCTTG CATCCTGGGAGCCCCACTGCCCTGCCATCCCCAGTACTGCCGGGAAGTGTCGGCCGTCCTTGTCATTAGTGGTCATATGAAAATGGCCCC AAGAAGGAGATGATTCTTTCAAGGGACACAGGCAGCTTCTCTCCTTGTCCTCTGGGGAGGTGCTGACCCCTCAGAAACCCCTTCCCCCAA CTTGACCCCAGGCTGAACAGACCACTGCATCTCACTGGGCCAGCAGCCCCCCCAGCCCCCAGCCTTGGTGGGGACCAAGCAGCCTTTCCC GTCCCCTCCTCGACCCGTACAGTTGAGAGCCAGGGGCTGGTGTGTGGGAGCTGCTACCTGGCAGTTTCTCGAGGGGTCACCGAGCCTCTG GTGGGACACCTGGGCAGGAGTGCTCTCACCACGAGGCTGCTTCCGCAGGGAACCCTGGCCTGCCCGCGACTTCGCATCAGGGACCGCATG CTGATTTGTACTGCTCTCTGCTGGGTTTTCTATGTTCTTTTCGAGTGTGGGAAAAGGGTTTTAGTAGAAGGGTGAATCGTATTTTACACA |
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FusionGenePPI for DMC1_DNAL4 |
| 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 |
| DMC1 | RAD51, DNAJA3, BRCA2, TRIM23, PSMA3, SDCBP, DMC1, GORASP2, NIF3L1, KCTD17, POTEF, ACTA1, RFWD2, SVIP, SIRT3, ZNF302 | DNAL4 | DYNLL2, FHL5, SCTR, GPBP1, CAMK2D, GNA14, TRIM54, KRTAP10-3, NOTCH2NL |
| - 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 DMC1_DNAL4 |
| 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 DMC1_DNAL4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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