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Fusion gene ID: 25151 |
FusionGeneSummary for NUMA1_PDE2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NUMA1_PDE2A | Fusion gene ID: 25151 | Hgene | Tgene | Gene symbol | NUMA1 | PDE2A | Gene ID | 4926 | 5138 |
| Gene name | nuclear mitotic apparatus protein 1 | phosphodiesterase 2A | |
| Synonyms | NMP-22|NUMA | CGS-PDE|PDE2A1|PED2A4|cGSPDE | |
| Cytomap | 11q13.4 | 11q13.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nuclear mitotic apparatus protein 1SP-H antigencentrophilin stabilizes mitotic spindle in mitotic cellsnuclear matrix protein-22structural nuclear protein | cGMP-dependent 3',5'-cyclic phosphodiesterasecGMP-stimulated phosphodiesterase 1cGMP-stimulated phosphodiesterase 2cGMP-stimulated phosphodiesterase 4cyclic GMP-stimulated phosphodiesterasephosphodiesterase 2A, cGMP-stimulated | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q14980 | O00408 | |
| Ensembl transtripts involved in fusion gene | ENST00000351960, ENST00000358965, ENST00000393695, ENST00000543450, | ENST00000334456, ENST00000376450, ENST00000444035, ENST00000544570, ENST00000418754, ENST00000540345, ENST00000540380, | |
| Fusion gene scores | * DoF score | 29 X 14 X 14=5684 | 9 X 5 X 6=270 |
| # samples | 31 | 9 | |
| ** MAII score | log2(31/5684*10)=-4.19656643396854 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NUMA1 [Title/Abstract] AND PDE2A [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 | NUMA1 | GO:0000132 | establishment of mitotic spindle orientation | 21816348 |
| Hgene | NUMA1 | GO:0030953 | astral microtubule organization | 12445386 |
| Hgene | NUMA1 | GO:0060236 | regulation of mitotic spindle organization | 26195665 |
| Hgene | NUMA1 | GO:1902365 | positive regulation of protein localization to spindle pole body | 16076287 |
| Tgene | PDE2A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17329248 |
| Tgene | PDE2A | GO:0006198 | cAMP catabolic process | 15938621|17704206 |
| Tgene | PDE2A | GO:0033159 | negative regulation of protein import into nucleus, translocation | 17329248 |
| Tgene | PDE2A | GO:0036006 | cellular response to macrophage colony-stimulating factor stimulus | 14687666 |
| Tgene | PDE2A | GO:0043951 | negative regulation of cAMP-mediated signaling | 17329248 |
| Tgene | PDE2A | GO:0046069 | cGMP catabolic process | 15938621|19828435 |
| Tgene | PDE2A | GO:0071320 | cellular response to cAMP | 17329248 |
| Tgene | PDE2A | GO:0071321 | cellular response to cGMP | 17704206|19828435 |
| Tgene | PDE2A | GO:1904613 | cellular response to 2,3,7,8-tetrachlorodibenzodioxine | 17329248 |
| 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 | OV | TCGA-24-2297-01A | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| * 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 | ENST00000351960 | ENST00000334456 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000351960 | ENST00000376450 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000351960 | ENST00000444035 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000351960 | ENST00000544570 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000351960 | ENST00000418754 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000351960 | ENST00000540345 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-intron | ENST00000351960 | ENST00000540380 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000358965 | ENST00000334456 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000358965 | ENST00000376450 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000358965 | ENST00000444035 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000358965 | ENST00000544570 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000358965 | ENST00000418754 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000358965 | ENST00000540345 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-intron | ENST00000358965 | ENST00000540380 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000393695 | ENST00000334456 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000393695 | ENST00000376450 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000393695 | ENST00000444035 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000393695 | ENST00000544570 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000393695 | ENST00000418754 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000393695 | ENST00000540345 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-intron | ENST00000393695 | ENST00000540380 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000543450 | ENST00000334456 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000543450 | ENST00000376450 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000543450 | ENST00000444035 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000543450 | ENST00000544570 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000543450 | ENST00000418754 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-3CDS | ENST00000543450 | ENST00000540345 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
| 5UTR-intron | ENST00000543450 | ENST00000540380 | NUMA1 | chr11 | 71780888 | - | PDE2A | chr11 | 72353370 | - |
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FusionProtFeatures for NUMA1_PDE2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NUMA1 | PDE2A |
| Microtubule (MT)-binding protein that plays a role inthe formation and maintenance of the spindle poles and thealignement and the segregation of chromosomes during mitotic celldivision (PubMed:7769006, PubMed:17172455, PubMed:19255246,PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions totether the minus ends of MTs at the spindle poles, which iscritical for the establishment and maintenance of the spindlepoles (PubMed:12445386, PubMed:11956313). Plays a role in theestablishment of the mitotic spindle orientation during metaphaseand elongation during anaphase in a dynein-dynactin-dependentmanner (PubMed:23870127, PubMed:24109598, PubMed:24996901,PubMed:26765568). In metaphase, part of a ternary complex composedof GPSM2 and G(i) alpha proteins, that regulates the recruitmentand anchorage of the dynein-dynactin complex in the mitotic cellcortex regions situated above the two spindle poles, and henceregulates the correct oritentation of the mitotic spindle(PubMed:23027904, PubMed:22327364, PubMed:23921553). Duringanaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical regionthrough direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulationof the spindle elongation and chromosome segregation(PubMed:22327364, PubMed:23921553, PubMed:24996901,PubMed:24371089). Binds also to other polyanionicphosphoinositides, such as phosphatidylinositol 3-phosphate (PIP),lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate(PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also requiredfor proper orientation of the mitotic spindle during asymmetriccell divisions (PubMed:21816348). Plays a role in mitotic MT asterassembly (PubMed:11163243, PubMed:11229403, PubMed:12445386).Involved in anastral spindle assembly (PubMed:25657325).Positively regulates TNKS protein localization to spindle poles inmitosis (PubMed:16076287). Highly abundant component of thenuclear matrix where it may serve a non-mitotic structural role,occupies the majority of the nuclear volume (PubMed:10075938).Required for epidermal differentiation and hair folliclemorphogenesis (By similarity). {ECO:0000250|UniProtKB:E9Q7G0,ECO:0000269|PubMed:11163243, ECO:0000269|PubMed:11229403,ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386,ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:17172455,ECO:0000269|PubMed:19255246, ECO:0000269|PubMed:22327364,ECO:0000269|PubMed:23027904, ECO:0000269|PubMed:23870127,ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598,ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901,ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26195665,ECO:0000269|PubMed:26765568, ECO:0000269|PubMed:27462074,ECO:0000269|PubMed:7769006, ECO:0000305|PubMed:10075938,ECO:0000305|PubMed:21816348}. |
| 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 NUMA1_PDE2A |
| 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 NUMA1_PDE2A |
| 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 |
| NUMA1 | EPB41, EPB41L1, YEATS4, GPSM2, TNKS, ACTR1A, SMC1A, SMC3, EPB41L2, NCOA6, PIM1, RPAP1, NPM1, BANF1, HDAC5, SMARCAD1, SIRT7, TERF1, TERF2IP, TERF2, CDK2, EMILIN1, RAE1, NUP98, DYNLL1, NCSTN, DDB1, ESR1, ECT2, MDC1, TP53BP1, SMURF1, VCP, HSP90AB1, HSP90AA1, CDK6, CBX6, KIAA0101, CCDC57, LMNA, YWHAQ, RPA3, RPA2, RPA1, ERG, LGR4, BRAP, DVL1, DVL2, DVL3, GMCL1, ENO1, MOV10, NXF1, BRCA1, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, SUMO2, ABCE1, WDR83, GPSM1, EPB41L3, BRD4, EIF3H, CDC73, EIF3E, EIF3I, EIF3L, RPS13, SRRM1, RPL35A, RTF1, RUVBL1, ZC3H18, NTRK1, SCARNA22, PTTG1, IFI16, SSX2IP, CRK, MATR3, KIF20A, MPHOSPH8, CBX8, PAPD5, ASPM, DYNC1H1, KPNB1, FAM175B, BRCC3, U2AF2, SCOC, TCP10L, PDHA1, YAP1, TXNIP | PDE2A | MOV10, NXF1, NUFIP1 |
| - 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 NUMA1_PDE2A |
| 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 |
| Tgene | PDE2A | O00408 | DB08811 | Tofisopam | cGMP-dependent 3',5'-cyclic phosphodiesterase | small molecule | approved |
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RelatedDiseases for NUMA1_PDE2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NUMA1 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
| Tgene | PDE2A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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