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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:NOS1AP-PBX1 (FusionGDB2 ID:59326) |
Fusion Gene Summary for NOS1AP-PBX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: NOS1AP-PBX1 | Fusion gene ID: 59326 | Hgene | Tgene | Gene symbol | NOS1AP | PBX1 | Gene ID | 9722 | 5087 |
| Gene name | nitric oxide synthase 1 adaptor protein | PBX homeobox 1 | |
| Synonyms | 6330408P19Rik|CAPON | CAKUHED | |
| Cytomap | 1q23.3 | 1q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase proteinC-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)C-terminal PDZ ligand of neuronal nitric oxide synthase proteinligand of neuronal nitric oxide synthase with car | pre-B-cell leukemia transcription factor 1homeobox protein PBX1homeobox protein PRLpre-B-cell leukemia homeobox 1 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | O75052 | P40424 | |
| Ensembl transtripts involved in fusion gene | ENST00000530878, ENST00000361897, ENST00000493151, ENST00000454693, | ENST00000420696, ENST00000401534, ENST00000559240, ENST00000367897, ENST00000540236, ENST00000560641, ENST00000474046, ENST00000485769, ENST00000540246, | |
| Fusion gene scores | * DoF score | 15 X 9 X 8=1080 | 13 X 13 X 8=1352 |
| # samples | 18 | 17 | |
| ** MAII score | log2(18/1080*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/1352*10)=-2.99148850014448 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: NOS1AP [Title/Abstract] AND PBX1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | NOS1AP(162040072)-PBX1(164532475), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | NOS1AP-PBX1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. NOS1AP-PBX1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. | ||
| * 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 | NOS1AP | GO:0098974 | postsynaptic actin cytoskeleton organization | 26869880 |
| Fusion gene breakpoints across NOS1AP (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across PBX1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | STAD | TCGA-CG-4460-01A | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
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Fusion Gene ORF analysis for NOS1AP-PBX1 |
| 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 | ENST00000530878 | ENST00000420696 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000530878 | ENST00000401534 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000530878 | ENST00000559240 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000530878 | ENST00000367897 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000530878 | ENST00000540236 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000530878 | ENST00000560641 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000530878 | ENST00000474046 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000530878 | ENST00000485769 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000530878 | ENST00000540246 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000361897 | ENST00000420696 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000361897 | ENST00000401534 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000361897 | ENST00000559240 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000361897 | ENST00000367897 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| Frame-shift | ENST00000361897 | ENST00000540236 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000361897 | ENST00000560641 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000361897 | ENST00000474046 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000361897 | ENST00000485769 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| 5CDS-intron | ENST00000361897 | ENST00000540246 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000493151 | ENST00000420696 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000493151 | ENST00000401534 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000493151 | ENST00000559240 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000493151 | ENST00000367897 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000493151 | ENST00000540236 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000493151 | ENST00000560641 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000493151 | ENST00000474046 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000493151 | ENST00000485769 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000493151 | ENST00000540246 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000454693 | ENST00000420696 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000454693 | ENST00000401534 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000454693 | ENST00000559240 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000454693 | ENST00000367897 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-3CDS | ENST00000454693 | ENST00000540236 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000454693 | ENST00000560641 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000454693 | ENST00000474046 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000454693 | ENST00000485769 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| intron-intron | ENST00000454693 | ENST00000540246 | NOS1AP | chr1 | 162040072 | - | PBX1 | chr1 | 164532475 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NOS1AP-PBX1 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for NOS1AP-PBX1 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| NOS1AP | PBX1 |
| FUNCTION: Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). {ECO:0000250}. | FUNCTION: Transcription factor which binds the DNA sequence 5'-TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 (PubMed:9191052). Binds to the DNA sequence 5'-TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein (PubMed:9191052). Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 (PubMed:8327485, PubMed:7791786). Acts as a transcriptional activator of PF4 in complex with MEIS1 (PubMed:12609849). Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'-TGATTGAC-3' consensus sequence (By similarity). In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity). Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 (PubMed:21746878). Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity). Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity). {ECO:0000250|UniProtKB:P41778, ECO:0000269|PubMed:12609849, ECO:0000269|PubMed:21746878, ECO:0000269|PubMed:7791786, ECO:0000269|PubMed:8327485, ECO:0000269|PubMed:9191052}.; FUNCTION: [Isoform PBX1b]: As part of a PDX1:PBX1b:MEIS2B complex in pancreatic acinar cells, is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. {ECO:0000250|UniProtKB:P41778}. |
| 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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Fusion Gene Sequence for NOS1AP-PBX1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for NOS1AP-PBX1 |
| 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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Related Drugs for NOS1AP-PBX1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NOS1AP-PBX1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | NOS1AP | C0035828 | Romano-Ward Syndrome | 2 | ORPHANET |
| Hgene | NOS1AP | C0036341 | Schizophrenia | 2 | PSYGENET |
| Tgene | PBX1 | C0006413 | Burkitt Lymphoma | 2 | CTD_human;ORPHANET |
| Tgene | PBX1 | C0343640 | African Burkitt's lymphoma | 2 | CTD_human |
| Tgene | PBX1 | C1968949 | Cakut | 2 | GENOMICS_ENGLAND |
| Tgene | PBX1 | C4721444 | Burkitt Leukemia | 2 | CTD_human |
| Tgene | PBX1 | C0013146 | Drug abuse | 1 | CTD_human |
| Tgene | PBX1 | C0013170 | Drug habituation | 1 | CTD_human |
| Tgene | PBX1 | C0013222 | Drug Use Disorders | 1 | CTD_human |
| Tgene | PBX1 | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
| Tgene | PBX1 | C0038580 | Substance Dependence | 1 | CTD_human |
| Tgene | PBX1 | C0038586 | Substance Use Disorders | 1 | CTD_human |
| Tgene | PBX1 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| Tgene | PBX1 | C0431692 | Bilateral renal hypoplasia | 1 | ORPHANET |
| Tgene | PBX1 | C0740858 | Substance abuse problem | 1 | CTD_human |
| Tgene | PBX1 | C1510472 | Drug Dependence | 1 | CTD_human |
| Tgene | PBX1 | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
| Tgene | PBX1 | C4539968 | CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY | 1 | GENOMICS_ENGLAND |
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