![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 31314 |
FusionGeneSummary for RMDN3_SKA2 |
![]() |
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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SKA2 | GO:0031110 | regulation of microtubule polymerization or depolymerization | 19289083 |
![]() (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 |
![]() * 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 | - |
Top |
FusionProtFeatures for RMDN3_SKA2 |
![]() |
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}. |
![]() * 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 |
Top |
FusionGeneSequence for RMDN3_SKA2 |
![]() (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 |
Top |
FusionGenePPI for RMDN3_SKA2 |
![]() |
![]() |
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 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for RMDN3_SKA2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for RMDN3_SKA2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |