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Fusion gene ID: 31314 |
FusionGeneSummary for RMDN3_SKA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RMDN3_SKA2 | Fusion gene ID: 31314 | Hgene | Tgene | Gene symbol | RMDN3 | SKA2 | Gene ID | 55177 | 348235 |
| Gene name | regulator of microtubule dynamics 3 | spindle and kinetochore associated complex subunit 2 | |
| Synonyms | FAM82A2|FAM82C|RMD-3|RMD3|ptpip51 | FAM33A | |
| Cytomap | 15q15.1 | 17q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | regulator of microtubule dynamics protein 3TCPTP-interacting protein 51cerebral protein 10family with sequence similarity 82, member A2family with sequence similarity 82, member Cmicrotubule-associated proteinprotein tyrosine phosphatase-interacting | spindle and kinetochore-associated protein 2family with sequence similarity 33, member Aspindle and KT (kinetochore) associated 2 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | Q96TC7 | Q8WVK7 | |
| Ensembl transtripts involved in fusion gene | ENST00000260385, ENST00000338376, ENST00000558560, | ENST00000330137, ENST00000580541, ENST00000578105, ENST00000583927, ENST00000581068, ENST00000437036, ENST00000583380, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 3 X 2 X 2=12 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RMDN3 [Title/Abstract] AND SKA2 [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 |
| Tgene | SKA2 | GO:0031110 | regulation of microtubule polymerization or depolymerization | 19289083 |
| 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-C8-A1HI-01A | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| * 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 | ENST00000260385 | ENST00000330137 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| Frame-shift | ENST00000260385 | ENST00000580541 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| Frame-shift | ENST00000260385 | ENST00000578105 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000260385 | ENST00000583927 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000260385 | ENST00000581068 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000260385 | ENST00000437036 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000260385 | ENST00000583380 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| Frame-shift | ENST00000338376 | ENST00000330137 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| Frame-shift | ENST00000338376 | ENST00000580541 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| In-frame | ENST00000338376 | ENST00000578105 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000338376 | ENST00000583927 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000338376 | ENST00000581068 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000338376 | ENST00000437036 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5CDS-5UTR | ENST00000338376 | ENST00000583380 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-3CDS | ENST00000558560 | ENST00000330137 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-3CDS | ENST00000558560 | ENST00000580541 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-3CDS | ENST00000558560 | ENST00000578105 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-5UTR | ENST00000558560 | ENST00000583927 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-5UTR | ENST00000558560 | ENST00000581068 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-5UTR | ENST00000558560 | ENST00000437036 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
| 5UTR-5UTR | ENST00000558560 | ENST00000583380 | RMDN3 | chr15 | 41043624 | - | SKA2 | chr17 | 57189706 | - |
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FusionProtFeatures for RMDN3_SKA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RMDN3 | SKA2 |
| Involved in cellular calcium homeostasis regulation. Mayparticipate in differentiation and apoptosis of keratinocytes.Overexpression induces apoptosis. {ECO:0000269|PubMed:16820967,ECO:0000269|PubMed:22131369}. | Component of the SKA1 complex, a microtubule-bindingsubcomplex of the outer kinetochore that is essential for properchromosome segregation (PubMed:17093495, PubMed:19289083,PubMed:23085020). Required for timely anaphase onset duringmitosis, when chromosomes undergo bipolar attachment on spindlemicrotubules leading to silencing of the spindle checkpoint(PubMed:17093495). The SKA1 complex is a direct component of thekinetochore-microtubule interface and directly associates withmicrotubules as oligomeric assemblies (PubMed:19289083). Thecomplex facilitates the processive movement of microspheres alonga microtubule in a depolymerization-coupled manner(PubMed:17093495, PubMed:19289083). In the complex, it is requiredfor SKA1 localization (PubMed:19289083). Affinity for microtubulesis synergistically enhanced in the presence of the ndc-80 complexand may allow the ndc-80 complex to track depolymerizingmicrotubules (PubMed:23085020). {ECO:0000269|PubMed:17093495,ECO:0000269|PubMed:19289083, ECO:0000269|PubMed:23085020}. |
| 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 RMDN3_SKA2 |
| 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_RMDN3_ENST00000338376_chr15_41043624_-_SKA2_ENST00000578105_chr17_57189706_-_197aa MSRLGALGGARAGLGLLLGTAAGLGFLCLLYSQRWKRTQRHGRSQSLPNSLDYTQTSDPGRHVMLLRAVPGGAGDASVLPSLPREGQEKV LDRLDFVLTSLVALRREVEELRSSLRGLAGEIVGEVRCHMEENQRVARRRRFPFVRERSDSTGSSSVYFTASSGATFTDAESEGGCHHXL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_RMDN3_ENST00000338376_chr15_41043624_-_SKA2_ENST00000578105_chr17_57189706_-_593nt ATGTCTAGACTGGGAGCCCTGGGTGGTGCCCGTGCCGGGCTGGGACTGTTGCTGGGTACCGCCGCCGGCCTTGGATTCCTGTGCCTCCTT TACAGCCAGCGATGGAAACGGACCCAGCGTCATGGCCGCAGCCAGAGCCTGCCCAACTCCCTGGACTATACGCAGACTTCAGATCCCGGA CGCCACGTGATGCTCCTGCGGGCTGTCCCAGGTGGGGCTGGAGATGCCTCAGTGCTGCCCAGCCTTCCACGGGAAGGACAGGAGAAGGTG CTGGACCGCCTGGACTTTGTGCTGACCAGCCTTGTGGCGCTGCGGCGGGAGGTGGAGGAGCTGAGAAGCAGCCTGCGAGGGCTTGCGGGG GAGATTGTTGGGGAGGTCCGATGCCACATGGAAGAGAACCAGAGAGTGGCTCGGCGGCGAAGGTTTCCGTTTGTCCGGGAGAGGAGTGAC TCCACTGGCTCCAGCTCTGTCTACTTCACGGCCTCCTCGGGAGCCACGTTCACAGATGCTGAGAGTGAAGGGGGCTGTCACCACTGACTA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_RMDN3_ENST00000338376_chr15_41043624_-_SKA2_ENST00000578105_chr17_57189706_-_1167nt GACGTCACGGTCACTGACAGCGTGAGCCCGCGGCGGCTGCTGCCATGGTGGCTGGCGGCCGGGTAAGGGTCTGAGTGGATCTCCTGCCAG GCCAGAGCGCCTTCGGGGGCCGCGGCGGAAGGCCAGGAGTTTGCAGCCAGGGCGCCGGGTTTGTGGTCTGCAGTGTCGTGAGGCTGAGGT GCAGCATGTCTAGACTGGGAGCCCTGGGTGGTGCCCGTGCCGGGCTGGGACTGTTGCTGGGTACCGCCGCCGGCCTTGGATTCCTGTGCC TCCTTTACAGCCAGCGATGGAAACGGACCCAGCGTCATGGCCGCAGCCAGAGCCTGCCCAACTCCCTGGACTATACGCAGACTTCAGATC CCGGACGCCACGTGATGCTCCTGCGGGCTGTCCCAGGTGGGGCTGGAGATGCCTCAGTGCTGCCCAGCCTTCCACGGGAAGGACAGGAGA AGGTGCTGGACCGCCTGGACTTTGTGCTGACCAGCCTTGTGGCGCTGCGGCGGGAGGTGGAGGAGCTGAGAAGCAGCCTGCGAGGGCTTG CGGGGGAGATTGTTGGGGAGGTCCGATGCCACATGGAAGAGAACCAGAGAGTGGCTCGGCGGCGAAGGTTTCCGTTTGTCCGGGAGAGGA GTGACTCCACTGGCTCCAGCTCTGTCTACTTCACGGCCTCCTCGGGAGCCACGTTCACAGATGCTGAGAGTGAAGGGGGCTGTCACCACT GACTAAAGAAGAGAAAACTGCGGCAGAGCAATTCAAATTTCACATGCCAGATTTATGAAGAAATGGACTTGGAAAGGAAATTCTAACAGA GAAGAGCTTAATTCCGGAGAAATTTAGGAAGATGTCTTGTTAACCCTTGATGTCTAGAGATTGGGGGCTGGTGAAGGGGGTTTGGCTTCA ATGACTGGATAATGATATCTTTCATGAGAGAGATTATAAGAAGAAGGGCAGATAATATATGAATAAAGTTCAGCCAAAAGGATCAAATGA GAATAAAACGATTTAAATATATGTACACACGCATGCACACACACACTTAGTCTTGTAATTTCAGGCCAGAAATTCTCAACACTATTTTGC |
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FusionGenePPI for RMDN3_SKA2 |
| 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 |
| RMDN3 | YWHAB, YWHAG, YWHAZ, VAPA, PSEN1, FAM3C, ATP6V1H, ATP6V1A, HNRNPD, HNRNPDL, FAM162A, ELAVL1, ILF3, TOMM40, HSPA5, GORASP2, TIMM17B, CYSRT1, MDC1, YWHAQ, EGFL8, HLA-DPA1, GPM6A, RMDN2, VAPB, PFKFB2, RAB5C, FOXA3, FOXL1, APOOL, NEUROG3, RAF1, MAPK1, PTPN1 | SKA2 | PPP2R2B, SKA1, DSN1, SPC24, HMOX2, PRKD3, RALYL, KIAA0753, SPICE1, DCTN1, SKA3, HAUS1 |
| - 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 RMDN3_SKA2 |
| 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 RMDN3_SKA2 |
| 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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