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Fusion gene ID: 24897 |
FusionGeneSummary for NSA2_PCDHAC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NSA2_PCDHAC2 | Fusion gene ID: 24897 | Hgene | Tgene | Gene symbol | NSA2 | PCDHAC2 | Gene ID | 10412 | 56134 |
| Gene name | NSA2, ribosome biogenesis homolog | protocadherin alpha subfamily C, 2 | |
| Synonyms | CDK105|HCL-G1|HCLG1|HUSSY-29|HUSSY29|TINP1 | PCDH-ALPHA-C2 | |
| Cytomap | 5q13.3 | 5q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ribosome biogenesis protein NSA2 homologTGF beta-inducible nuclear protein 1TGF-beta inducible nuclear proteinhairy cell leukemia protein 1 | protocadherin alpha-C2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O95478 | Q9Y5I4 | |
| Ensembl transtripts involved in fusion gene | ENST00000296802, ENST00000513356, | ENST00000289269, | |
| Fusion gene scores | * DoF score | 7 X 4 X 4=112 | 3 X 1 X 2=6 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/112*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/6*10)=2.32192809488736 | |
| Context | PubMed: NSA2 [Title/Abstract] AND PCDHAC2 [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 |
| 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 | SKCM | TCGA-ER-A197-06A | NSA2 | chr5 | 74063188 | + | PCDHAC2 | chr5 | 140358534 | + |
| * 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 | ENST00000296802 | ENST00000289269 | NSA2 | chr5 | 74063188 | + | PCDHAC2 | chr5 | 140358534 | + |
| 3UTR-3CDS | ENST00000513356 | ENST00000289269 | NSA2 | chr5 | 74063188 | + | PCDHAC2 | chr5 | 140358534 | + |
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FusionProtFeatures for NSA2_PCDHAC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NSA2 | PCDHAC2 |
| Involved in the biogenesis of the 60S ribosomal subunit.May play a part in the quality control of pre-60S particles (Bysimilarity). {ECO:0000250}. | Potential calcium-dependent cell-adhesion protein. Maybe involved in the establishment and maintenance of specificneuronal connections in the brain. |
| 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 | >PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 980_987 | 855 | 1008 | Compositional bias | Note=Poly-Lys |
| Tgene | >PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 856_951 | 855 | 1008 | Region | Note=4 X 4 AA repeats of P-X-X-P |
| Tgene | >PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 856_859 | 855 | 1008 | Repeat | Note=PXXP 1 |
| Tgene | >PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 889_892 | 855 | 1008 | Repeat | Note=PXXP 2 |
| Tgene | >PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 930_933 | 855 | 1008 | Repeat | Note=PXXP 3 |
| Tgene | >PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 948_951 | 855 | 1008 | Repeat | Note=PXXP 4 |
| - 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 | >NSA2 | chr5:74063188 | chr5:140358534 | ENST00000296802 | + | 1 | 6 | 23_152 | 1 | 261 | Compositional bias | Note=Lys-rich |
| Hgene | >NSA2 | chr5:74063188 | chr5:140358534 | ENST00000296802 | + | 1 | 6 | 11_18 | 1 | 261 | Motif | Nuclear localization signal |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 149_257 | 855 | 1008 | Domain | Cadherin 2 |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 258_365 | 855 | 1008 | Domain | Cadherin 3 |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 374_469 | 855 | 1008 | Domain | Cadherin 4 |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 43_148 | 855 | 1008 | Domain | Cadherin 1 |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 470_579 | 855 | 1008 | Domain | Cadherin 5 |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 594_691 | 855 | 1008 | Domain | Cadherin 6 |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 43_708 | 855 | 1008 | Topological domain | Extracellular |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 730_1007 | 855 | 1008 | Topological domain | Cytoplasmic |
| Tgene | PCDHAC2 | chr5:74063188 | chr5:140358534 | ENST00000289269 | + | 0 | 4 | 709_729 | 855 | 1008 | Transmembrane | Helical |
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FusionGeneSequence for NSA2_PCDHAC2 |
| 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_NSA2_ENST00000296802_chr5_74063188_+_PCDHAC2_ENST00000289269_chr5_140358534_+_154aa MPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_NSA2_ENST00000296802_chr5_74063188_+_PCDHAC2_ENST00000289269_chr5_140358534_+_462nt ATGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAGGCTGGCATT CTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTGTCCCCTCCA GTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTGCCCGACAAA TTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATAACCTTCGGC AAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACGACTGACAAC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_NSA2_ENST00000296802_chr5_74063188_+_PCDHAC2_ENST00000289269_chr5_140358534_+_3245nt GGAGGCGCGAGCCGCGCCAAAGTCTGCAACGGCCTCAAGTCTCGACGCCAGCCTAGGCAAAAGGCAATGTATCTAAACGAAAAGAAAATA GGCTTTCTCCGCTCTACCGCCTCGGGCAGCCACACCTCCACACTTCCGGCGGTGTACCGGCCAAATGCCGCCTGCCAGCAACTTCCGTCC TCCTAGCTAAAAGCGGAAAACAGAGGCTCGGAACCGCTGCGTGGTTCTTGCTCTTCACTCGGCCGTTTTAAAGGGTGACTCTTTCCTGTC CCGGCCTGCGTGGTGTGGGCTTGTGGGTCTTTGAGACCCGAAAATTGAGAGCGTTTTCGCACTCCAGCGGCTGCTCCTGGCGGCTCTGCG GCCGTCACCATGCCACGACAGCCCAACCCTGACTGGCGTTACTCTGCCTCCCTGAGAGCAGGCATGCACAGCTCTGTGCACCTAGAGGAG GCTGGCATTCTACGGGCTGGTCCAGGAGGGCCTGATCAGCAGTGGCCAACAGTATCCAGTGCAACACCAGAACCAGAGGCAGGAGAAGTG TCCCCTCCAGTCGGTGCGGGTGTCAACAGCAACAGCTGGACCTTTAAATACGGACCAGGCAACCCCAAACAATCCGGTCCCGGTGAGTTG CCCGACAAATTCATTATCCCAGGATCTCCTGCAATCATCTCCATCCGGCAGGAGCCTACTAACAGCCAAATTGACAAAAGTGACTTCATA ACCTTCGGCAAAAAGGAGGAGACCAAGAAAAAGAAGAAAAAGAAGAAGGGTAACAAGACCCAGGAGAAAAAAGAGAAAGGGAACAGCACG ACTGACAACAGTGACCAGTGAGGTCCTCAAATGGAAACAAGCCACTTAGCCAGTTTTTGTAATAATGGCAAATCTCTCCCATGTAGCAAT TCCCTGCTCCTTTTTCCTATCTACATGAGCCCTCTTAGAGACCTCAGAAATCTGCAGAAAGTTCCCTGTGTCTGTCTAGAACGCATTTAA CAGGTTTTGTCGTAAAAGCTTTACTAAGTCTGGTGTTAACTCTTTCTCTCCACTCTGGCTTGTTTTCAGAACCTAAAAAGCAGACCCAAG TTTCCTTTCTCCTCCGCCGCAAAGGAGAGGCTTCCCAGCCCCGCCAGTGAGAGGTTGGACTCTCTGCCCTGTGCTCCGGGGATCCTGTCT TGATGACACTTGCAGGGCAGGCTGAAAAGTTTTGAGATTGAGCAGCTTGGGAGTTTGTGGCCACTGGGTATGTGTGGCTACCGCGGGTAT GCGAGTGCCAGATATTGGCTGAGACGAGCCAGCTTAGACTAATTGGTACAAGGAAGGCAAGAAAACAAAGACAAATAAACAGCGGAAGTT ATCAGTATGGAGGGGAAGTGTAAACTTAAAGGGACCAGACTTTCTAAATCTTACAACTCAAGAGGTGGCAGCCACCCTCTAGGAGACAAA ACTACCCCCACTGACAAGGCTTTAGGAGACCCTAAAGTCTGTTGGCTGTGACGTCATTATACCTAAAATCTGCATCATACCTGCAAGCCA ACAGTTCAGTGTTTTAACAGAGAACCACCCTGGGAAACAGAAGCAGATCTGATGTGTTTCCTATACATGTCCTGTGCTCACTTTATTAAA AATTCTTTTGCACACAATGTTTATGAAAAGGCCAGATCCTTTTCCAATACTTATGCAAAAGCAAAAGAAAACCCCGACACCTCACCTTTC GCTGTTTGTTGTTTCATAGATTTATTTAAAAAAAGAGAAAGTCTATAGCTATAAATCTTTAAAGAGAAATATGAATACAATTCCCCTAAA CTCTCCTCAAAAGAGAATTCAGTCTACAGCCATTTAAATGATCATTGCTGCTACAGAAGTGCTTTAAGAGAATTGCCTGAAACATCTGTA TTATATCGGCCACCTGCCAATCACAGCTTTACTCTTTCAGGTCACTCTGGGGCTGCCTCTTGCATGTATTACTAAATAAAATGATCTCTC TTTCTCTCTCTCTCTCTCTTTTCTAAGAAACAATTATGTGCACTTTGATACACAACCTTCTCTAACCAACTATATATCAAGACCCAAAAA TTGAAGAAAAATATTGTTTTCTCATACAGTGAGCAGATTTTTCAATCTACTAATTCTGTGACTTGTCTTGGTGTGCTAGCCTACACCTTC TCTTTGGTTTAGTTTTCCTTTTCTATAACACTCTGAATTGCTAATCTTACTAACACCTATGATGTTACCTGAAATCAATCTCCCATATGT ATGCTGTATGCTATGCTAAGACTCCTGAAATATACTTACTCTGTGCTTGTGTATGTGAATGTTAATGCAACTATTACCTAGAGTGAACTT TAAGCTTTATTGTTGAATGTAATTCCATTATATTTCCTTTTGTACACCTGTGAAAAAGTGGAGTAGTGTTTTTTTAACCATTGTTAATCA GCTTTTGTGTATGAAAGACACAGTAAAATTTCTTTCTTAAATCAAGATACTGGTGATTCAAGGAATTTTATTTATGGTCCAGCCAAGAGC CATCTCGTGCCAAGACTTCTGCTGGCAAGGGAATGGATAAAGCTGTTTTGTTCTAGTAACAATTTTGGAATGAATACTGACAATATTCCA TGAGGGTGTGCAAGCACAAATTTTACCAATCTGACCTCTTTGAAGTTGCAGAATGCTTTGAAATTCTAATGGTATCTGAAATATCAGCTC ATAGAAAGTAACAAAATTTGCTGTCACCTTAAATAAGACATTTTAATTTTGTTATAATGTACAATTTAGAAGTTTGATTAATTATATTAT CTATTTAGGCATTAATATAAAAGAGGTAGGAGTCTGTTATTTAAAAAAAGCATTAAATTTAAAAAAAAACTGTCTTGTCTACTTTTAGCT TCATTCTCCCATATTTTGAAGGGTGTGTAACTTCAGCTCTGCAGGATTGCATGGGGTAAAACTTGTTACCAACACATGTGAACCATTGCT ACATTGTAGGTTGTGATCATTTTGCCCCACTGAAGCCCATGTATCTGACCTTACGTGCCTTTTGAACTAGGAGAATCGGGCTAATTTATT AATGATGATAATTATAATGTATCTGTACAGCACTTTTTACATTTGCGAAGTGCTTTCCAATCCATGTTAGTTACTAGTTATTACAGCTGT AAGGATAAAACACGTCATGTGGATTCATTTTGAATTGGTGCTATTGGTATTTCCTCTGTTATTGCTAATAAATGAAAATGGTGGTATGAA |
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FusionGenePPI for NSA2_PCDHAC2 |
| 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 |
| NSA2 | SIRT7, IRAK3, RNF2, HIST1H1A, NOL12, RPL13, RPL26L1, NPM1, RRS1, PTCD3, PABPC4, MAGEA9B, GNL2, GTPBP4, MRPS9, CCDC86, MRTO4, RPS8, RSL24D1, TYW5, LIN28B, RPF2, NLE1, ZNF646, ZC3H3, PRR11, NOC2L, BRIX1, DDX18, DDX24, EBNA1BP2, EIF2S2, FTSJ3, KIAA0020, NIFK, NOP2, NOP56, PES1, RPL5, RPL27, SDAD1, IFI16, CNTROB, SPICE1, TMEM17, TMEM67, CAMKK1, RPL30, DGCR8, RPL37A, PDGFB, SART3, H2AFY2, GLTSCR2, RBM34, RBM4, CNBP, RPL18A, ZC3HAV1, MAK16, GPATCH4, WDR46, E4F1, FGF8, ZBTB48, RPS14, FGF3, RPL18, RPL7, ZCRB1, UPF1, UBE2A | PCDHAC2 | MPP5, FRMD5, RAB23, TMEM258, EDA, SMPD2, PIGQ, KCNJ11, CGRRF1, ZDHHC18, BTN2A2, DAGLB, RPL23, DAG1, C2CD2L, SYNGR2, ST7, LSR, ABCC10, PDE3B, INADL, TMEM57, DHRS7, RAB6B, EPHB4, PCNXL3, CDC20, HMOX1, LMBR1, NUS1, PDZD8, TMEM223, GHDC, LAPTM4B, RAD54L2 |
| - 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 NSA2_PCDHAC2 |
| 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 NSA2_PCDHAC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NSA2 | C0023892 | Biliary cirrhosis | 1 | CTD_human |
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