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Fusion gene ID: 22651 |
FusionGeneSummary for MSL1_PPP3CA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MSL1_PPP3CA | Fusion gene ID: 22651 | Hgene | Tgene | Gene symbol | MSL1 | PPP3CA | Gene ID | 339287 | 5530 |
| Gene name | male specific lethal 1 homolog | protein phosphatase 3 catalytic subunit alpha | |
| Synonyms | MSL-1|hMSL1 | CALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2B | |
| Cytomap | 17q21.1 | 4q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | male-specific lethal 1 homologMSL1-like 1male-specific lethal 1-like 1male-specific lethal-1 homolog 1 | serine/threonine-protein phosphatase 2B catalytic subunit alpha isoformCAM-PRP catalytic subunitcalcineurin A alphacalmodulin-dependent calcineurin A subunit alpha isoformprotein phosphatase 2B, catalytic subunit, alpha isoformprotein phosphatase 3 ( | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q68DK7 | Q08209 | |
| Ensembl transtripts involved in fusion gene | ENST00000398532, ENST00000577454, ENST00000578648, ENST00000579565, | ENST00000512215, ENST00000394854, ENST00000323055, ENST00000394853, ENST00000507176, ENST00000523694, ENST00000510292, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 8 X 5 X 3=120 |
| # samples | 4 | 8 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/120*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MSL1 [Title/Abstract] AND PPP3CA [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 | MSL1 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
| Tgene | PPP3CA | GO:0006470 | protein dephosphorylation | 18815128|19154138 |
| Tgene | PPP3CA | GO:0033173 | calcineurin-NFAT signaling cascade | 19154138|22688515 |
| Tgene | PPP3CA | GO:0035690 | cellular response to drug | 11005320 |
| Tgene | PPP3CA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 22688515 |
| Tgene | PPP3CA | GO:0051592 | response to calcium ion | 18815128 |
| 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 |
| ChiTaRS3.1 | BE896062 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| * 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 |
| 3UTR-3UTR | ENST00000398532 | ENST00000512215 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| 3UTR-3UTR | ENST00000398532 | ENST00000394854 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| 3UTR-3UTR | ENST00000398532 | ENST00000323055 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| 3UTR-3UTR | ENST00000398532 | ENST00000394853 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| 3UTR-3UTR | ENST00000398532 | ENST00000507176 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| 3UTR-intron | ENST00000398532 | ENST00000523694 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| 3UTR-intron | ENST00000398532 | ENST00000510292 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000577454 | ENST00000512215 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000577454 | ENST00000394854 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000577454 | ENST00000323055 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000577454 | ENST00000394853 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000577454 | ENST00000507176 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-intron | ENST00000577454 | ENST00000523694 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-intron | ENST00000577454 | ENST00000510292 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000578648 | ENST00000512215 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000578648 | ENST00000394854 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000578648 | ENST00000323055 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000578648 | ENST00000394853 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000578648 | ENST00000507176 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-intron | ENST00000578648 | ENST00000523694 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-intron | ENST00000578648 | ENST00000510292 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000579565 | ENST00000512215 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000579565 | ENST00000394854 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000579565 | ENST00000323055 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000579565 | ENST00000394853 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-3UTR | ENST00000579565 | ENST00000507176 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-intron | ENST00000579565 | ENST00000523694 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
| intron-intron | ENST00000579565 | ENST00000510292 | MSL1 | chr17 | 38291327 | + | PPP3CA | chr4 | 101946829 | - |
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FusionProtFeatures for MSL1_PPP3CA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MSL1 | PPP3CA |
| Component of histone acetyltransferase complexresponsible for the majority of histone H4 acetylation at 'Lys-16'(H4K16ac) which is implicated in the formation of higher-orderchromatin structure. Greatly enhances MSL2 E3 ubiquitin ligaseactivity, promoting monoubiquitination of histone H2B at 'Lys-34'(H2BK34Ub). This modification in turn stimulates histone H3methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leadsto gene activation, including that of HOXA9 and MEIS1. In the MSLcomplex, acts as a scaffold to tether MSL3 and KAT8 together forenzymatic activity regulation. {ECO:0000269|PubMed:16227571,ECO:0000269|PubMed:21726816, ECO:0000269|PubMed:22547026}. | Calcium-dependent, calmodulin-stimulated proteinphosphatase which plays an essential role in the transduction ofintracellular Ca(2+)-mediated signals (PubMed:15671020,PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of thesubstrates contain a PxIxIT motif and/or a LxVP motif(PubMed:17498738, PubMed:17502104, PubMed:23468591,PubMed:27974827, PubMed:22343722). In response to increased Ca(2+)levels, dephosphorylates and activates phosphatase SSH1 whichresults in cofilin dephosphorylation (PubMed:15671020). Inresponse to increased Ca(2+) levels following mitochondrialdepolarization, dephosphorylates DNM1L inducing DNM1Ltranslocation to the mitochondrion (PubMed:18838687).Dephosphorylates heat shock protein HSPB1 (By similarity).Dephosphorylates and activates transcription factor NFATC1(PubMed:19154138). In response to increased Ca(2+) levels,regulates NFAT-mediated transcription probably bydephosphorylating NFAT and promoting its nuclear translocation(PubMed:26248042). Dephosphorylates and inactivates transcriptionfactor ELK1 (PubMed:19154138). Dephosphorylates DARPP32(PubMed:19154138). {ECO:0000250|UniProtKB:P48452,ECO:0000269|PubMed:15671020, ECO:0000269|PubMed:17498738,ECO:0000269|PubMed:17502104, ECO:0000269|PubMed:18838687,ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:22343722,ECO:0000269|PubMed:23468591, ECO:0000269|PubMed:26248042,ECO:0000269|PubMed:27974827}. |
| 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 MSL1_PPP3CA |
| 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 MSL1_PPP3CA |
| 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 |
| - 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 MSL1_PPP3CA |
| 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 MSL1_PPP3CA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PPP3CA | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
| Tgene | PPP3CA | C0030305 | Pancreatitis | 1 | CTD_human |
| Tgene | PPP3CA | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Tgene | PPP3CA | C0039584 | Testicular Diseases | 1 | CTD_human |
| Tgene | PPP3CA | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Tgene | PPP3CA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
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