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Fusion gene ID: 22790 |
FusionGeneSummary for MTMR2_CLNS1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MTMR2_CLNS1A | Fusion gene ID: 22790 | Hgene | Tgene | Gene symbol | MTMR2 | CLNS1A | Gene ID | 8898 | 1207 |
| Gene name | myotubularin related protein 2 | chloride nucleotide-sensitive channel 1A | |
| Synonyms | CMT4B|CMT4B1 | CLCI|CLNS1B|ICln | |
| Cytomap | 11q21 | 11q14.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myotubularin-related protein 2phosphatidylinositol-3,5-bisphosphate 3-phosphatasephosphatidylinositol-3-phosphatasephosphatidylinositol-3-phosphate phosphatasephosphoinositide-3-phosphatase | methylosome subunit pIClnchloride channel regulatory proteinchloride channel, nucleotide sensitive 1Achloride conductance regulatory protein IClnchloride ion current inducer proteini(Cln)reticulocyte pIClnreticulocyte protein ICln | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q13614 | P54105 | |
| Ensembl transtripts involved in fusion gene | ENST00000393223, ENST00000346299, ENST00000409459, ENST00000352297, ENST00000484818, | ENST00000525428, ENST00000263309, ENST00000525064, ENST00000532069, ENST00000528364, ENST00000533957, | |
| Fusion gene scores | * DoF score | 6 X 4 X 7=168 | 4 X 3 X 3=36 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MTMR2 [Title/Abstract] AND CLNS1A [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 |
| Hgene | MTMR2 | GO:0046856 | phosphatidylinositol dephosphorylation | 12668758 |
| Hgene | MTMR2 | GO:0060304 | regulation of phosphatidylinositol dephosphorylation | 16787938 |
| Tgene | CLNS1A | GO:0000387 | spliceosomal snRNP assembly | 18984161 |
| 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 | STAD | TCGA-BR-6456-01A | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| * 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 |
| 5UTR-3CDS | ENST00000393223 | ENST00000525428 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000393223 | ENST00000263309 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000393223 | ENST00000525064 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000393223 | ENST00000532069 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000393223 | ENST00000528364 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-intron | ENST00000393223 | ENST00000533957 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000346299 | ENST00000525428 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000346299 | ENST00000263309 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000346299 | ENST00000525064 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000346299 | ENST00000532069 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000346299 | ENST00000528364 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-intron | ENST00000346299 | ENST00000533957 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000409459 | ENST00000525428 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000409459 | ENST00000263309 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000409459 | ENST00000525064 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000409459 | ENST00000532069 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000409459 | ENST00000528364 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-intron | ENST00000409459 | ENST00000533957 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000352297 | ENST00000525428 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000352297 | ENST00000263309 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000352297 | ENST00000525064 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000352297 | ENST00000532069 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-3CDS | ENST00000352297 | ENST00000528364 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| 5UTR-intron | ENST00000352297 | ENST00000533957 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000484818 | ENST00000525428 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000484818 | ENST00000263309 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000484818 | ENST00000525064 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000484818 | ENST00000532069 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-3CDS | ENST00000484818 | ENST00000528364 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
| intron-intron | ENST00000484818 | ENST00000533957 | MTMR2 | chr11 | 95647406 | - | CLNS1A | chr11 | 77340944 | - |
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FusionProtFeatures for MTMR2_CLNS1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MTMR2 | CLNS1A |
| Phosphatase that acts on lipids with a phosphoinositolheadgroup. Has phosphatase activity towards phosphatidylinositol3-phosphate and phosphatidylinositol 3,5-bisphosphate.{ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758,ECO:0000269|PubMed:21372139}. | Involved in both the assembly of spliceosomal snRNPs andthe methylation of Sm proteins (PubMed:21081503, PubMed:18984161).Chaperone that regulates the assembly of spliceosomal U1, U2, U4and U5 small nuclear ribonucleoproteins (snRNPs), the buildingblocks of the spliceosome. Thereby, plays an important role in thesplicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain acommon set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE,SNRPF and SNRPG that assemble in a heptameric protein ring on theSm site of the small nuclear RNA to form the core snRNP. In thecytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPGare trapped in an inactive 6S pICln-Sm complex by the chaperoneCLNS1A that controls the assembly of the core snRNP. Dissociationby the SMN complex of CLNS1A from the trapped Sm proteins andtheir transfer to an SMN-Sm complex triggers the assembly of coresnRNPs and their transport to the nucleus. May also indirectlyparticipate in cellular volume control by activation of aswelling-induced chloride conductance pathway.{ECO:0000269|PubMed:10330151, ECO:0000269|PubMed:11713266,ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:21081503}. |
| 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 MTMR2_CLNS1A |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MTMR2_CLNS1A |
| 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 |
| MTMR2 | SBF1, MTMR2, ELAVL1, RFC5, SNTA1, HSF1, SZRD1, CTPS2, EHD4, LRSAM1, PLIN3, XPNPEP1, UNK, MTMR11, CCDC22, MTMR1, MTMR10, MTMR12, NFKB1, SBF2, TUBA1B, MTMR9, EYA3, SEPSECS, NUDT16, GADD45GIP1, RPS19BP1, MRTO4, EBNA1BP2, RPL3L, ERBB4, ERBB3, ROR2 | CLNS1A | PRMT5, ITGA2B, SNRPD3, SNRPD1, SNRPB, SNRPD2, SNRPE, WDR77, G3BP1, LSM10, LSM11, AGO3, WDR45, SNRPF, SNRPG, ARRB2, PPP4R2, LGALS1, LGALS3, PTMS, RHOA, OSTF1, PGAM1, SEC24A, PPA1, PDLIM1, UFC1, ATIC, UBXN1, PUM1, NEDD8, TPD52L2, PIR, LPP, RAC1, PLIN3, NDRG1, MIF, SEC24C, PPP2CA, S100A6, UBA2, PDIA6, VBP1, TRIP6, PLS3, MDH2, SNX12, PSMA5, UBA52, UBQLN1, RAD23A, RPS21, MAGOH, EIF4A3, SMURF1, YWHAE, FN1, LSM2, LSM3, LSM6, CSNK2A1, NOS2, UBL4A, PAN2, FBXO6, PDCD10, TRNT1, CTPS1, HSPA5, P4HB, PFDN2, USP5, NFE4, EPB41, GAR1, DDAH2, RPS2, RBFOX2, FBLN7, ADCYAP1, EPB41L3, RPS6KB2, NTRK1, TMEM17, ALKBH3, CRBN, PTPRG, SNRPN, FARP2, RPL15, EPB41L2, CYLD, TRIM25 |
| - 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 MTMR2_CLNS1A |
| 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 MTMR2_CLNS1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MTMR2 | C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CLNS1A | C0025202 | melanoma | 1 | CTD_human |
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