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Fusion gene ID: 24508 |
FusionGeneSummary for NMRAL1_PRKCB |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NMRAL1_PRKCB | Fusion gene ID: 24508 | Hgene | Tgene | Gene symbol | NMRAL1 | PRKCB | Gene ID | 57407 | 5579 |
| Gene name | NmrA like redox sensor 1 | protein kinase C beta | |
| Synonyms | HSCARG|SDR48A1 | PKC-beta|PKCB|PRKCB1|PRKCB2 | |
| Cytomap | 16p13.3 | 16p12.2-p12.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | nmrA-like family domain-containing protein 1NmrA-like family domain containing 1short chain dehydrogenase/reductase family 48A, member 1 | protein kinase C beta typePKC-Bprotein kinase C, beta 1 polypeptide | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q9HBL8 | P05771 | |
| Ensembl transtripts involved in fusion gene | ENST00000283429, ENST00000574733, ENST00000404295, ENST00000574425, ENST00000572391, | ENST00000321728, ENST00000303531, ENST00000482000, ENST00000498058, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 13 X 9 X 10=1170 |
| # samples | 4 | 14 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(14/1170*10)=-3.0630097975258 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NMRAL1 [Title/Abstract] AND PRKCB [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 |
| Tgene | PRKCB | GO:0035408 | histone H3-T6 phosphorylation | 20228790 |
| 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-61-1907-01A | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| * 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 |
| Frame-shift | ENST00000283429 | ENST00000321728 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-3UTR | ENST00000283429 | ENST00000303531 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000283429 | ENST00000482000 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000283429 | ENST00000498058 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| In-frame | ENST00000574733 | ENST00000321728 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-3UTR | ENST00000574733 | ENST00000303531 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000574733 | ENST00000482000 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000574733 | ENST00000498058 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| Frame-shift | ENST00000404295 | ENST00000321728 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-3UTR | ENST00000404295 | ENST00000303531 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000404295 | ENST00000482000 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000404295 | ENST00000498058 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| In-frame | ENST00000574425 | ENST00000321728 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-3UTR | ENST00000574425 | ENST00000303531 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000574425 | ENST00000482000 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5CDS-intron | ENST00000574425 | ENST00000498058 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5UTR-3CDS | ENST00000572391 | ENST00000321728 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5UTR-3UTR | ENST00000572391 | ENST00000303531 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5UTR-intron | ENST00000572391 | ENST00000482000 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
| 5UTR-intron | ENST00000572391 | ENST00000498058 | NMRAL1 | chr16 | 4516154 | - | PRKCB | chr16 | 24231282 | + |
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FusionProtFeatures for NMRAL1_PRKCB |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NMRAL1 | PRKCB |
| Redox sensor protein. Undergoes restructuring andsubcellular redistribution in response to changes in intracellularNADPH/NADP(+) levels. At low NADPH concentrations the protein isfound mainly as a monomer, and binds argininosuccinate synthase(ASS1), the enzyme involved in nitric oxide synthesis. Associationwith ASS1 impairs its activity and reduces the production ofnitric oxide, which subsecuently prevents apoptosis. Under normalNADPH concentrations, the protein is found as a dimer and hidesthe binding site for ASS1. The homodimer binds one molecule ofNADPH. Has higher affinity for NADPH than for NADP(+). Binding toNADPH is necessary to form a stable dimer.{ECO:0000269|PubMed:17496144, ECO:0000269|PubMed:18263583,ECO:0000269|PubMed:19254724}. |
| 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 NMRAL1_PRKCB |
| 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_NMRAL1_ENST00000574733_chr16_4516154_-_PRKCB_ENST00000321728_chr16_24231282_+_227aa MVDKKLVVVFGGTGAQGGSVARTLLEDGTFKVRVVTRNPRKKAAKELRLQGAEVVQGDQDDQVIMELALNGAYATFIVTNYWESCSQEQE VKQGKLLADLARRLGLHYVVYSGLENIKKLTAGRLAAAHFDGKGEVEEYFRDIGVPMTSVRLPCYFENLLSHFLPQKAPDGKSYLLKRQE >In-frame_NMRAL1_ENST00000574425_chr16_4516154_-_PRKCB_ENST00000321728_chr16_24231282_+_227aa MVDKKLVVVFGGTGAQGGSVARTLLEDGTFKVRVVTRNPRKKAAKELRLQGAEVVQGDQDDQVIMELALNGAYATFIVTNYWESCSQEQE VKQGKLLADLARRLGLHYVVYSGLENIKKLTAGRLAAAHFDGKGEVEEYFRDIGVPMTSVRLPCYFENLLSHFLPQKAPDGKSYLLKRQE |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_NMRAL1_ENST00000574733_chr16_4516154_-_PRKCB_ENST00000321728_chr16_24231282_+_682nt ATGGTGGACAAGAAACTGGTGGTGGTTTTCGGAGGCACAGGTGCCCAGGGTGGCTCCGTGGCCCGCACACTCCTGGAAGATGGGACATTC AAGGTTCGAGTGGTGACCCGAAACCCTAGGAAGAAGGCAGCAAAGGAGCTGAGGCTGCAAGGTGCAGAAGTAGTGCAGGGAGACCAAGAT GACCAGGTCATCATGGAGCTGGCCCTGAATGGGGCTTACGCCACCTTCATCGTGACCAATTACTGGGAGAGCTGCAGCCAGGAGCAGGAG GTCAAGCAGGGGAAGCTGCTCGCTGATCTGGCCAGGCGCCTGGGCCTCCACTATGTGGTCTACAGCGGCCTGGAGAACATCAAGAAGCTG ACGGCAGGGAGATTGGCCGCCGCGCACTTTGACGGCAAAGGGGAGGTGGAGGAATATTTCCGGGACATTGGCGTTCCCATGACCAGTGTG CGGCTGCCCTGCTATTTTGAGAACCTCCTCTCCCACTTCTTGCCCCAGAAAGCCCCAGACGGAAAGAGCTACTTGCTGAAGAGACAAGAG AGACACCTCCAACTTCGACAAAGAGTTCACCAGACAGCCTGTGGAACTGACCCCCACTGATAAACTCTTCATCATGAACTTGGACCAAAA >In-frame_NMRAL1_ENST00000574425_chr16_4516154_-_PRKCB_ENST00000321728_chr16_24231282_+_682nt ATGGTGGACAAGAAACTGGTGGTGGTTTTCGGAGGCACAGGTGCCCAGGGTGGCTCCGTGGCCCGCACACTCCTGGAAGATGGGACATTC AAGGTTCGAGTGGTGACCCGAAACCCTAGGAAGAAGGCAGCAAAGGAGCTGAGGCTGCAAGGTGCAGAAGTAGTGCAGGGAGACCAAGAT GACCAGGTCATCATGGAGCTGGCCCTGAATGGGGCTTACGCCACCTTCATCGTGACCAATTACTGGGAGAGCTGCAGCCAGGAGCAGGAG GTCAAGCAGGGGAAGCTGCTCGCTGATCTGGCCAGGCGCCTGGGCCTCCACTATGTGGTCTACAGCGGCCTGGAGAACATCAAGAAGCTG ACGGCAGGGAGATTGGCCGCCGCGCACTTTGACGGCAAAGGGGAGGTGGAGGAATATTTCCGGGACATTGGCGTTCCCATGACCAGTGTG CGGCTGCCCTGCTATTTTGAGAACCTCCTCTCCCACTTCTTGCCCCAGAAAGCCCCAGACGGAAAGAGCTACTTGCTGAAGAGACAAGAG AGACACCTCCAACTTCGACAAAGAGTTCACCAGACAGCCTGTGGAACTGACCCCCACTGATAAACTCTTCATCATGAACTTGGACCAAAA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_NMRAL1_ENST00000574733_chr16_4516154_-_PRKCB_ENST00000321728_chr16_24231282_+_1910nt GGGCGGGAAGCGGAGTATGTGGCTTTCCCCAGGTCTCTGGAGGTTGCAGGCTCAGGCTCTGCTCAGCGGGTCATCACCCGTAGCATCCGG TTAAGAGGCTCTCCACCTCGCTCATTTTGGTCTAACTGGATTTACACAAACTCACTGTGCACGTGCCTGGGGCGGGCAAACCCGGAAACG ACGCCGAGTCCCGCGGGATCCAGGAGGAGCCAACTGCGCCGGAGGAGGGGTTTCGGCCGACACGTCGGGATTGGCGGCTGCAGCCAGGGG TCCTCCGACGCTGGGCTTCCGTGAGCGGCGCTCTGCCAGGTGGGGCCGGAGCTGCGGGGAGGGAGTTGGCGCCTAGCGCGCAGCTCCATC CCCGCCTCTGCAGTGGACTCGGCCGCAGAATCGGGGTCCCGGGCTCCTGGAACTTGTCCCGCCCAGGCCGCGGCGAGGAGGTCACTCCAG CCGGTGGGACCCGGGCCGGGGGGCGGGTGACTGGAACCGGGGGAGGCGGGAAGGAGGAGGGGATCGGGCCCAAGGGACACGAGGTGGGTC GCGGGACCCCGATATCTCGGGACAGGCGTCTTGCCGCTCCGGGCCCAGCCGCCCCCTTCGACACATACTCGATGCATAGACAATGGGGGT GTCCTTTGTCGCTCCTGGCGGGAACCCCGGCCCCACCCCCAACTCCACGCCTCCCATTACCCCCAGATCTCTGGACCGGATTCGTCCCAT TCTCGTCCTCATGGTGGACAAGAAACTGGTGGTGGTTTTCGGAGGCACAGGTGCCCAGGGTGGCTCCGTGGCCCGCACACTCCTGGAAGA TGGGACATTCAAGGTTCGAGTGGTGACCCGAAACCCTAGGAAGAAGGCAGCAAAGGAGCTGAGGCTGCAAGGTGCAGAAGTAGTGCAGGG AGACCAAGATGACCAGGTCATCATGGAGCTGGCCCTGAATGGGGCTTACGCCACCTTCATCGTGACCAATTACTGGGAGAGCTGCAGCCA GGAGCAGGAGGTCAAGCAGGGGAAGCTGCTCGCTGATCTGGCCAGGCGCCTGGGCCTCCACTATGTGGTCTACAGCGGCCTGGAGAACAT CAAGAAGCTGACGGCAGGGAGATTGGCCGCCGCGCACTTTGACGGCAAAGGGGAGGTGGAGGAATATTTCCGGGACATTGGCGTTCCCAT GACCAGTGTGCGGCTGCCCTGCTATTTTGAGAACCTCCTCTCCCACTTCTTGCCCCAGAAAGCCCCAGACGGAAAGAGCTACTTGCTGAA GAGACAAGAGAGACACCTCCAACTTCGACAAAGAGTTCACCAGACAGCCTGTGGAACTGACCCCCACTGATAAACTCTTCATCATGAACT TGGACCAAAATGAATTTGCTGGCTTCTCTTATACTAACCCAGAGTTTGTCATTAATGTGTAGGTGAATGCAAACTCCATCGTTGAGCCTG GGGTGTAAGACTTCAAGCCAAGCGTATGTATCAATTCTAGTCTTCCAGGATTCACGGTGCACATGCTGGCATTCAACATGTGGAAAGCTT GTCTTAGAGGGCTTTTCTTTGTATGTGTAGCTTGCTAGTTTGTTTTCTACATTTGAAAATGTTTAGTTTAGAATAAGCGCATTATCCAAT TATAGAGGTACAATTTTCCAAACTTCCAGAAACTCATCAAATGAACAGACAATGTCAAAACTACTGTGTCTGATACCAAAATGCTTCAGT ATTTGTAATTTTTCAAGTCAGAAGCTGATGTTCCTGGTAAAAGTTTTTACAGTTATTCTATAATATCTTCTTTGAATGCTAAGCATGAGC GATATTTTTAAAAATTGTGAGTAAGCTTTGCAGTTACTGTGAACTATTGTCTCTTGGAGGAAGTTTTTTGTTTAAGAATTGATATGATTA >In-frame_NMRAL1_ENST00000574425_chr16_4516154_-_PRKCB_ENST00000321728_chr16_24231282_+_1435nt CGGAGGAGGGGTTTCGGCCGACACGTCGGGATTGGCGGCTGCAGCCAGGGGTCCTCCGACGCTGGGCTTCCGTGAGCGGCGCTCTGCCAG GTGGGGCCGGAGCTGCGGGGAGGGAGTTGGCGCCTAGCGCGCAGCTCCATCCCCGCCTCTGCAGTGGACTCGGCCGCAGAATCGGGGTCC CGGGCTCCTGGAACTTGTCCCGCCCAGGCCGCGGCGAGGAGATCTCTGGACCGGATTCGTCCCATTCTCGTCCTCATGGTGGACAAGAAA CTGGTGGTGGTTTTCGGAGGCACAGGTGCCCAGGGTGGCTCCGTGGCCCGCACACTCCTGGAAGATGGGACATTCAAGGTTCGAGTGGTG ACCCGAAACCCTAGGAAGAAGGCAGCAAAGGAGCTGAGGCTGCAAGGTGCAGAAGTAGTGCAGGGAGACCAAGATGACCAGGTCATCATG GAGCTGGCCCTGAATGGGGCTTACGCCACCTTCATCGTGACCAATTACTGGGAGAGCTGCAGCCAGGAGCAGGAGGTCAAGCAGGGGAAG CTGCTCGCTGATCTGGCCAGGCGCCTGGGCCTCCACTATGTGGTCTACAGCGGCCTGGAGAACATCAAGAAGCTGACGGCAGGGAGATTG GCCGCCGCGCACTTTGACGGCAAAGGGGAGGTGGAGGAATATTTCCGGGACATTGGCGTTCCCATGACCAGTGTGCGGCTGCCCTGCTAT TTTGAGAACCTCCTCTCCCACTTCTTGCCCCAGAAAGCCCCAGACGGAAAGAGCTACTTGCTGAAGAGACAAGAGAGACACCTCCAACTT CGACAAAGAGTTCACCAGACAGCCTGTGGAACTGACCCCCACTGATAAACTCTTCATCATGAACTTGGACCAAAATGAATTTGCTGGCTT CTCTTATACTAACCCAGAGTTTGTCATTAATGTGTAGGTGAATGCAAACTCCATCGTTGAGCCTGGGGTGTAAGACTTCAAGCCAAGCGT ATGTATCAATTCTAGTCTTCCAGGATTCACGGTGCACATGCTGGCATTCAACATGTGGAAAGCTTGTCTTAGAGGGCTTTTCTTTGTATG TGTAGCTTGCTAGTTTGTTTTCTACATTTGAAAATGTTTAGTTTAGAATAAGCGCATTATCCAATTATAGAGGTACAATTTTCCAAACTT CCAGAAACTCATCAAATGAACAGACAATGTCAAAACTACTGTGTCTGATACCAAAATGCTTCAGTATTTGTAATTTTTCAAGTCAGAAGC TGATGTTCCTGGTAAAAGTTTTTACAGTTATTCTATAATATCTTCTTTGAATGCTAAGCATGAGCGATATTTTTAAAAATTGTGAGTAAG |
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FusionGenePPI for NMRAL1_PRKCB |
| 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 |
| NMRAL1 | COMMD1, FOXJ1, TRAF3, OTUB1, OTUB2, UCHL1, IKBKE, IKBKG, PHB2, C9orf64, CNDP2, FKBP1A, TRIM25 | PRKCB | RASGRP3, NCAM1, ADRBK1, BTK, GNB2L1, CSF2RB, YWHAG, GNA12, GNA13, RIPK4, RGS2, TIAM1, PDLIM5, NCF1, PDPK1, AFAP1, LMNB1, CDK1, RBCK1, HSPA4, IKBKG, HIST1H3A, PRKCB, DDX58, TRIM41, EGFR, TERF1, TINF2, RNF31, IBTK, KCNA5, TOP2A, HIST1H1A, LSP1, H1F0, CARD11, SDC2, ITGB2, PPP2R4, PPP1CA, TNFRSF1A, FN1, HSP90AA1, GSK3A, CASR, RB1, SYT6, HIST1H1B, MARCKS, NUMB, LYN, MBP, PRKCD, EP300, SHCBP1, DAB2, AKT1, IKBKB, CHUK, GSK3B, ARRB2, ITGB3, PRKCA |
| - 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 NMRAL1_PRKCB |
| 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 | PRKCB | P05771 | DB08862 | Cholecystokinin | Protein kinase C beta type | small molecule | approved|investigational |
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RelatedDiseases for NMRAL1_PRKCB |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PRKCB | C0004352 | Autistic Disorder | 1 | CTD_human |
| Tgene | PRKCB | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Tgene | PRKCB | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | PRKCB | C0018800 | Cardiomegaly | 1 | CTD_human |
| Tgene | PRKCB | C0020456 | Hyperglycemia | 1 | CTD_human |
| Tgene | PRKCB | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| Tgene | PRKCB | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | PRKCB | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Tgene | PRKCB | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | PRKCB | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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