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Fusion gene ID: 26284 |
FusionGeneSummary for PCNT_NSMCE2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PCNT_NSMCE2 | Fusion gene ID: 26284 | Hgene | Tgene | Gene symbol | PCNT | NSMCE2 | Gene ID | 5116 | 286053 |
| Gene name | pericentrin | NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase | |
| Synonyms | KEN|MOPD2|PCN|PCNT2|PCNTB|PCTN2|SCKL4 | C8orf36|MMS21|NSE2|ZMIZ7 | |
| Cytomap | 21q22.3 | 8q24.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | pericentrinkendrinpericentrin-2pericentrin-380pericentrin-B | E3 SUMO-protein ligase NSE2E3 SUMO-protein transferase NSE2NSMCE2/PVT1 fusionPVT1/NSMCE2 fusionmethyl methanesulfonate sensitivity gene 21non-SMC element 2, MMS21 homolognon-structural maintenance of chromosomes element 2 homologzinc finger, MIZ-ty | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | O95613 | Q96MF7 | |
| Ensembl transtripts involved in fusion gene | ENST00000359568, ENST00000480896, | ENST00000287437, ENST00000522563, ENST00000517315, ENST00000521460, | |
| Fusion gene scores | * DoF score | 5 X 4 X 5=100 | 11 X 6 X 6=396 |
| # samples | 5 | 12 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/396*10)=-1.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PCNT [Title/Abstract] AND NSMCE2 [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 | PCNT | GO:0060271 | cilium assembly | 15337773 |
| 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 | RV | SARC | TCGA-JV-A75J-01A | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| * 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 |
| In-frame | ENST00000359568 | ENST00000287437 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| In-frame | ENST00000359568 | ENST00000522563 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| 5CDS-5UTR | ENST00000359568 | ENST00000517315 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| 5CDS-intron | ENST00000359568 | ENST00000521460 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| 3UTR-3CDS | ENST00000480896 | ENST00000287437 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| 3UTR-3CDS | ENST00000480896 | ENST00000522563 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| 3UTR-5UTR | ENST00000480896 | ENST00000517315 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
| 3UTR-intron | ENST00000480896 | ENST00000521460 | PCNT | chr21 | 47771454 | + | NSMCE2 | chr8 | 126163413 | + |
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FusionProtFeatures for PCNT_NSMCE2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PCNT | NSMCE2 |
| Integral component of the filamentous matrix of thecentrosome involved in the initial establishment of organizedmicrotubule arrays in both mitosis and meiosis. Plays a role,together with DISC1, in the microtubule network formation. Is anintegral component of the pericentriolar material (PCM). May playan important role in preventing premature centrosome splittingduring interphase by inhibiting NEK2 kinase activity at thecentrosome. {ECO:0000269|PubMed:10823944,ECO:0000269|PubMed:11171385, ECO:0000269|PubMed:18955030,ECO:0000269|PubMed:20599736}. | E3 SUMO-protein ligase component of the SMC5-SMC6complex, a complex involved in DNA double-strand break repair byhomologous recombination. Is not be required for the stability ofthe complex. The complex may promote sister chromatid homologousrecombination by recruiting the SMC1-SMC3 cohesin complex todouble-strand breaks. The complex is required for telomeremaintenance via recombination in ALT (alternative lengthening oftelomeres) cell lines and mediates sumoylation of shelterincomplex (telosome) components which is proposed to lead toshelterin complex disassembly in ALT-associated PML bodies (APBs).Acts as an E3 ligase mediating SUMO attachment to various proteinssuch as SMC6L1 and TRAX, the shelterin complex subunits TERF1,TERF2, TINF2 and TERF2IP, and maybe the cohesin components RAD21and STAG2. Required for recruitment of telomeres to PML nuclearbodies. SUMO protein-ligase activity is required for theprevention of DNA damage-induced apoptosis by facilitating DNArepair, and for formation of APBs in ALT cell lines. Required forsister chromatid cohesion during prometaphase and mitoticprogression. {ECO:0000269|PubMed:16055714,ECO:0000269|PubMed:16810316, ECO:0000269|PubMed:17589526,ECO:0000269|PubMed:19502785}. |
| 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 |
| Tgene | >NSMCE2 | chr21:47771454 | chr8:126163413 | ENST00000287437 | + | 2 | 8 | 154_236 | 52 | 248 | Zinc finger | SP-RING-type |
| Tgene | >NSMCE2 | chr21:47771454 | chr8:126163413 | ENST00000522563 | + | 1 | 7 | 154_236 | 52 | 248 | Zinc finger | SP-RING-type |
| - 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 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 1010_1146 | 485 | 3337 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 1299_1949 | 485 | 3337 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 2064_2082 | 485 | 3337 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 2536_3086 | 485 | 3337 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 258_553 | 485 | 3337 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 675_835 | 485 | 3337 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 214_795 | 485 | 3337 | Compositional bias | Note=Glu-rich |
| Hgene | >PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 3195_3208 | 485 | 3337 | Region | Note=Calmodulin-binding |
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FusionGeneSequence for PCNT_NSMCE2 |
| 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_PCNT_ENST00000359568_chr21_47771454_+_NSMCE2_ENST00000287437_chr8_126163413_+_681aa MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQP EDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPE QRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQ KEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLEN LRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLELE NLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSAEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKK FLALQSKNSDADFQNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRM >In-frame_PCNT_ENST00000359568_chr21_47771454_+_NSMCE2_ENST00000522563_chr8_126163413_+_681aa MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKEDSALCGGGDICKSTSCDDTPDGAGGAFAAQP EDCDGEKREDLEQLQQKQVNDHPPEQCGMFTVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPE QRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQAVHGLELEALRLSLSNMHTAQLELTQANLQ KEKETALTELREMLNSRRAQELALLQSRQQHELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLEN LRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLREDLQSEHGRCLEDLEFKFKESEKEKQLELE NLQASYEDLKAQSQEEIRRLWSQLDSARTSRQELSAEVSSEYSMDKAMVEFATLDRQLNHYVKAVQSTINHVKEERPEKIPDLKLLVEKK FLALQSKNSDADFQNNEKFVQFKQQLKELKKQCGLQADREADGTEGVDEDIIVTQSQTNFTCPITKEEMKKPVKNKVCGHTYEEDAIVRM |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PCNT_ENST00000359568_chr21_47771454_+_NSMCE2_ENST00000287437_chr8_126163413_+_2043nt ATGGAAGTTGAGCAAGAGCAGCGGCGCAGAAAGGTGGAGGCCGGGAGGACGAAGCTTGCTCACTTCCGACAGAGAAAAACAAAAGGTGAC AGTTCGCATTCGGAGAAAAAGACGGCGAAGAGGAAGGGCTCGGCTGTCGATGCGTCTGTCCAGGAGGAGAGTCCGGTAACCAAGGAGGAC AGCGCACTCTGTGGAGGAGGGGACATTTGCAAAAGCACATCATGTGACGACACCCCTGATGGGGCAGGAGGGGCCTTTGCAGCTCAGCCG GAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTC ACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGAC CACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAA CAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATG TTCACAAAGGAGTGTGAACAAGAATGTGAACTTGCCATTACTGACCTGGAGAGCGGCCGTGAAGATGAGGCTGGCCTGCATCAGAGTCAG GCCGTGCATGGCCTTGAGCTGGAGGCGCTGCGCCTGAGTCTGAGCAACATGCACACGGCGCAGCTGGAGCTGACACAGGCCAACCTCCAG AAGGAGAAGGAGACGGCATTGACGGAGCTGCGGGAGATGCTCAACAGCCGGCGTGCCCAGGAGCTGGCCCTGCTACAGAGCAGGCAGCAG CACGAGCTGGAGCTCCTCAGGGAGCAGCACGCACGGGAGAAGGAGGAGGTGGTGCTCAGGTGTGGACAGGAAGCAGCTGAGCTGAAGGAG AAGTTACAATCAGAAATGGAGAAAAACGCCCAGATAGTAAAGACCCTGAAGGAAGATTGGGAATCTGAAAAAGATTTATGTTTAGAAAAT CTACGCAAAGAACTGTCTGCAAAGCATCAATCAGAAATGGAGGATTTACAAAACCAGTTTCAGAAAGAATTGGCAGAACAGAGAGCTGAG TTGGAGAAGATTTTTCAAGACAAAAACCAGGCTGAACGGGCCCTTAGGAACCTGGAGAGTCATCATCAAGCAGCCATTGAGAAGTTACGT GAAGACCTGCAGTCCGAGCACGGCCGGTGTTTAGAAGACTTGGAGTTCAAGTTCAAAGAGAGCGAGAAAGAAAAACAGCTGGAGTTAGAG AATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTGATTCTGCCAGGACCAGT AGACAGGAATTGAGTGCTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCAT TATGTAAAGGCTGTTCAATCTACAATAAATCATGTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAA TTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAG AAGCAATGTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCCAAAGTCAGACCAACTTC ACCTGCCCCATTACAAAGGAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGGACGCCATTGTTCGCATG ATTGAGTCCAGGCAAAAGCGGAAGAAAAAGGCCTATTGCCCTCAAATTGGCTGTAGCCACACGGATATAAGAAAGTCAGATCTTATCCAG >In-frame_PCNT_ENST00000359568_chr21_47771454_+_NSMCE2_ENST00000522563_chr8_126163413_+_2043nt ATGGAAGTTGAGCAAGAGCAGCGGCGCAGAAAGGTGGAGGCCGGGAGGACGAAGCTTGCTCACTTCCGACAGAGAAAAACAAAAGGTGAC AGTTCGCATTCGGAGAAAAAGACGGCGAAGAGGAAGGGCTCGGCTGTCGATGCGTCTGTCCAGGAGGAGAGTCCGGTAACCAAGGAGGAC AGCGCACTCTGTGGAGGAGGGGACATTTGCAAAAGCACATCATGTGACGACACCCCTGATGGGGCAGGAGGGGCCTTTGCAGCTCAGCCG GAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAGAGCAGTGTGGGATGTTC ACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCAGTGAC CACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCAGTGACCACCAACCGGAA CAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAACAGCGTGGGATG TTCACAAAGGAGTGTGAACAAGAATGTGAACTTGCCATTACTGACCTGGAGAGCGGCCGTGAAGATGAGGCTGGCCTGCATCAGAGTCAG GCCGTGCATGGCCTTGAGCTGGAGGCGCTGCGCCTGAGTCTGAGCAACATGCACACGGCGCAGCTGGAGCTGACACAGGCCAACCTCCAG AAGGAGAAGGAGACGGCATTGACGGAGCTGCGGGAGATGCTCAACAGCCGGCGTGCCCAGGAGCTGGCCCTGCTACAGAGCAGGCAGCAG CACGAGCTGGAGCTCCTCAGGGAGCAGCACGCACGGGAGAAGGAGGAGGTGGTGCTCAGGTGTGGACAGGAAGCAGCTGAGCTGAAGGAG AAGTTACAATCAGAAATGGAGAAAAACGCCCAGATAGTAAAGACCCTGAAGGAAGATTGGGAATCTGAAAAAGATTTATGTTTAGAAAAT CTACGCAAAGAACTGTCTGCAAAGCATCAATCAGAAATGGAGGATTTACAAAACCAGTTTCAGAAAGAATTGGCAGAACAGAGAGCTGAG TTGGAGAAGATTTTTCAAGACAAAAACCAGGCTGAACGGGCCCTTAGGAACCTGGAGAGTCATCATCAAGCAGCCATTGAGAAGTTACGT GAAGACCTGCAGTCCGAGCACGGCCGGTGTTTAGAAGACTTGGAGTTCAAGTTCAAAGAGAGCGAGAAAGAAAAACAGCTGGAGTTAGAG AATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTGATTCTGCCAGGACCAGT AGACAGGAATTGAGTGCTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGGATCGGCAACTAAACCAT TATGTAAAGGCTGTTCAATCTACAATAAATCATGTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAA TTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAG AAGCAATGTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCCAAAGTCAGACCAACTTC ACCTGCCCCATTACAAAGGAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGGACGCCATTGTTCGCATG ATTGAGTCCAGGCAAAAGCGGAAGAAAAAGGCCTATTGCCCTCAAATTGGCTGTAGCCACACGGATATAAGAAAGTCAGATCTTATCCAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PCNT_ENST00000359568_chr21_47771454_+_NSMCE2_ENST00000287437_chr8_126163413_+_2385nt GCGGGGGGAGGGCGAGCCCAAGCGCGGGGGAGGGAGTGTAAATAGAGCGAAGGCTGCTCTGTGTCAGCCCCGTCACCGCCGGGCGGCCCG CGCGGAGTCTGAGGGAGATGGAAGTTGAGCAAGAGCAGCGGCGCAGAAAGGTGGAGGCCGGGAGGACGAAGCTTGCTCACTTCCGACAGA GAAAAACAAAAGGTGACAGTTCGCATTCGGAGAAAAAGACGGCGAAGAGGAAGGGCTCGGCTGTCGATGCGTCTGTCCAGGAGGAGAGTC CGGTAACCAAGGAGGACAGCGCACTCTGTGGAGGAGGGGACATTTGCAAAAGCACATCATGTGACGACACCCCTGATGGGGCAGGAGGGG CCTTTGCAGCTCAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAG AGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGA TGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCA GTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAG CAGAACAGCGTGGGATGTTCACAAAGGAGTGTGAACAAGAATGTGAACTTGCCATTACTGACCTGGAGAGCGGCCGTGAAGATGAGGCTG GCCTGCATCAGAGTCAGGCCGTGCATGGCCTTGAGCTGGAGGCGCTGCGCCTGAGTCTGAGCAACATGCACACGGCGCAGCTGGAGCTGA CACAGGCCAACCTCCAGAAGGAGAAGGAGACGGCATTGACGGAGCTGCGGGAGATGCTCAACAGCCGGCGTGCCCAGGAGCTGGCCCTGC TACAGAGCAGGCAGCAGCACGAGCTGGAGCTCCTCAGGGAGCAGCACGCACGGGAGAAGGAGGAGGTGGTGCTCAGGTGTGGACAGGAAG CAGCTGAGCTGAAGGAGAAGTTACAATCAGAAATGGAGAAAAACGCCCAGATAGTAAAGACCCTGAAGGAAGATTGGGAATCTGAAAAAG ATTTATGTTTAGAAAATCTACGCAAAGAACTGTCTGCAAAGCATCAATCAGAAATGGAGGATTTACAAAACCAGTTTCAGAAAGAATTGG CAGAACAGAGAGCTGAGTTGGAGAAGATTTTTCAAGACAAAAACCAGGCTGAACGGGCCCTTAGGAACCTGGAGAGTCATCATCAAGCAG CCATTGAGAAGTTACGTGAAGACCTGCAGTCCGAGCACGGCCGGTGTTTAGAAGACTTGGAGTTCAAGTTCAAAGAGAGCGAGAAAGAAA AACAGCTGGAGTTAGAGAATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTG ATTCTGCCAGGACCAGTAGACAGGAATTGAGTGCTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGG ATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCATGTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAAT TATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAAC AGCTGAAAGAACTAAAGAAGCAATGTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCC AAAGTCAGACCAACTTCACCTGCCCCATTACAAAGGAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGG ACGCCATTGTTCGCATGATTGAGTCCAGGCAAAAGCGGAAGAAAAAGGCCTATTGCCCTCAAATTGGCTGTAGCCACACGGATATAAGAA AGTCAGATCTTATCCAGGATGAAGCACTTAGAAGGGCAATTGAGAACCATAACAAGAAAAGACATCGTCATTCCGAGTAGGAAAAGCCAC CTGCCTGCAGGGACACCAGCAGCCTACCTCCTACCCCAGCTGTCTGTTGAGAGCAGTGCTGACCCCAGCAGTTAGGGACTGGCTGCATAG CATACTTGTTGGGGGTAAAACTTGTTGCTTTTATGTGTGCTTGAAAACATTTTTCAAAGTTACACAACAGAAATGCAATCATATTGTTTA >In-frame_PCNT_ENST00000359568_chr21_47771454_+_NSMCE2_ENST00000522563_chr8_126163413_+_2340nt GCGGGGGGAGGGCGAGCCCAAGCGCGGGGGAGGGAGTGTAAATAGAGCGAAGGCTGCTCTGTGTCAGCCCCGTCACCGCCGGGCGGCCCG CGCGGAGTCTGAGGGAGATGGAAGTTGAGCAAGAGCAGCGGCGCAGAAAGGTGGAGGCCGGGAGGACGAAGCTTGCTCACTTCCGACAGA GAAAAACAAAAGGTGACAGTTCGCATTCGGAGAAAAAGACGGCGAAGAGGAAGGGCTCGGCTGTCGATGCGTCTGTCCAGGAGGAGAGTC CGGTAACCAAGGAGGACAGCGCACTCTGTGGAGGAGGGGACATTTGCAAAAGCACATCATGTGACGACACCCCTGATGGGGCAGGAGGGG CCTTTGCAGCTCAGCCGGAGGACTGTGATGGAGAGAAGAGAGAGGACTTGGAACAGCTGCAGCAGAAGCAAGTCAATGACCATCCTCCAG AGCAGTGTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGA TGTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAATCA GTGACCACCAACCGGAACAGCGTGGGATGTTCACAGTCAGTGACCACACACCAGAACAGCGTGGGATCTTCACAATCAGTGACCACCCAG CAGAACAGCGTGGGATGTTCACAAAGGAGTGTGAACAAGAATGTGAACTTGCCATTACTGACCTGGAGAGCGGCCGTGAAGATGAGGCTG GCCTGCATCAGAGTCAGGCCGTGCATGGCCTTGAGCTGGAGGCGCTGCGCCTGAGTCTGAGCAACATGCACACGGCGCAGCTGGAGCTGA CACAGGCCAACCTCCAGAAGGAGAAGGAGACGGCATTGACGGAGCTGCGGGAGATGCTCAACAGCCGGCGTGCCCAGGAGCTGGCCCTGC TACAGAGCAGGCAGCAGCACGAGCTGGAGCTCCTCAGGGAGCAGCACGCACGGGAGAAGGAGGAGGTGGTGCTCAGGTGTGGACAGGAAG CAGCTGAGCTGAAGGAGAAGTTACAATCAGAAATGGAGAAAAACGCCCAGATAGTAAAGACCCTGAAGGAAGATTGGGAATCTGAAAAAG ATTTATGTTTAGAAAATCTACGCAAAGAACTGTCTGCAAAGCATCAATCAGAAATGGAGGATTTACAAAACCAGTTTCAGAAAGAATTGG CAGAACAGAGAGCTGAGTTGGAGAAGATTTTTCAAGACAAAAACCAGGCTGAACGGGCCCTTAGGAACCTGGAGAGTCATCATCAAGCAG CCATTGAGAAGTTACGTGAAGACCTGCAGTCCGAGCACGGCCGGTGTTTAGAAGACTTGGAGTTCAAGTTCAAAGAGAGCGAGAAAGAAA AACAGCTGGAGTTAGAGAATCTTCAAGCATCATATGAAGACCTGAAGGCACAATCACAAGAAGAGATCAGGCGCTTGTGGTCCCAGCTTG ATTCTGCCAGGACCAGTAGACAGGAATTGAGTGCTGAAGTGAGTAGTGAATATAGTATGGACAAGGCAATGGTTGAATTTGCTACATTGG ATCGGCAACTAAACCATTATGTAAAGGCTGTTCAATCTACAATAAATCATGTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAAT TATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAAC AGCTGAAAGAACTAAAGAAGCAATGTGGTCTTCAAGCTGACAGAGAAGCTGACGGAACAGAAGGAGTGGATGAAGATATAATTGTGACCC AAAGTCAGACCAACTTCACCTGCCCCATTACAAAGGAGGAAATGAAGAAGCCAGTGAAAAATAAAGTGTGTGGCCACACCTATGAAGAGG ACGCCATTGTTCGCATGATTGAGTCCAGGCAAAAGCGGAAGAAAAAGGCCTATTGCCCTCAAATTGGCTGTAGCCACACGGATATAAGAA AGTCAGATCTTATCCAGGATGAAGCACTTAGAAGGGCAATTGAGAACCATAACAAGAAAAGACATCGTCATTCCGAGTAGGAAAAGCCAC CTGCCTGCAGGGACACCAGCAGCCTACCTCCTACCCCAGCTGTCTGTTGAGAGCAGTGCTGACCCCAGCAGTTAGGGACTGGCTGCATAG CATACTTGTTGGGGGTAAAACTTGTTGCTTTTATGTGTGCTTGAAAACATTTTTCAAAGTTACACAACAGAAATGCAATCATATTGTTTA |
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FusionGenePPI for PCNT_NSMCE2 |
| 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 |
| PCNT | CALM1, PCM1, TUBGCP3, TUBGCP2, DYNC1LI1, CHD3, CHD4, MBD3, MTA2, RBBP7, SIRT7, TP53BP1, CDK5RAP2, AKAP9, OBSL1, CCDC8, SUZ12, CCDC183, TSNAX, TXNDC11, DTNBP1, BIRC7, FGL2, CEP68, PLK4, CEP192, CEP63, CCDC67, CENPJ, CEP152, MED4, CEP290, CEP162, RPGRIP1L, CNTRL, SLC25A4, PAX6, YWHAZ, MAPRE1, RACGAP1, PON2, PRKAR2A, OFD1, PIBF1, CEP131, CEP72, MIB1, WDR35, C7orf50, MPV17L2, IMP4, GAN, CDC5L, EID1, TPTE2, LPXN, IKBIP, FAM81B, MZT1, MIS18A, C1orf87, TCP10L, EXOC1 | NSMCE2 | NSMCE1, SMC6, RAD21, STAG2, SMC5, SMC1A, SMC3, PDS5A, PDS5B, WAPAL, ETV1, TSNAX, PAN2, TXLNA, USP28, EID3, ZNF597, NDNL2, EWSR1, ILK, SORT1, NIPSNAP1, TM9SF4, SYNCRIP, SAMD1 |
| - 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 |
| Hgene | PCNT | chr21:47771454 | chr8:126163413 | ENST00000359568 | + | 9 | 47 | 2983_3246 | 485 | 3337 | NEK2 |
| - 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 PCNT_NSMCE2 |
| 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 PCNT_NSMCE2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PCNT | C0005586 | Bipolar Disorder | 3 | PSYGENET |
| Hgene | PCNT | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | PCNT | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Hgene | PCNT | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| Hgene | PCNT | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | PCNT | C0265202 | Seckel syndrome | 1 | CTD_human;ORPHANET |
| Hgene | PCNT | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | PCNT | C1847572 | SECKEL SYNDROME 2 | 1 | CTD_human |
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