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Fusion gene ID: 1168 |
FusionGeneSummary for AGRN_SIAE |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AGRN_SIAE | Fusion gene ID: 1168 | Hgene | Tgene | Gene symbol | AGRN | SIAE | Gene ID | 375790 | 54414 |
| Gene name | agrin | sialic acid acetylesterase | |
| Synonyms | AGRIN|CMS8|CMSPPD | AIS6|CSE-C|CSEC|LSE|YSG2 | |
| Cytomap | 1p36.33 | 11q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | agrinagrin proteoglycan | sialate O-acetylesteraseH-Lsecytosolic sialic acid 9-O-acetylesterase homologsialic acid-specific acetylesterase II | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | O00468 | Q9HAT2 | |
| Ensembl transtripts involved in fusion gene | ENST00000379370, ENST00000477585, | ENST00000263593, ENST00000545756, ENST00000525730, | |
| Fusion gene scores | * DoF score | 10 X 7 X 9=630 | 32 X 5 X 12=1920 |
| # samples | 11 | 36 | |
| ** MAII score | log2(11/630*10)=-2.51784830486262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(36/1920*10)=-2.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: AGRN [Title/Abstract] AND SIAE [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 | AGRN | GO:0043113 | receptor clustering | 15340048 |
| Tgene | SIAE | GO:0005975 | carbohydrate metabolic process | 23308225 |
| 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 | KIRP | TCGA-EV-5902-01A | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
| * 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 | ENST00000379370 | ENST00000263593 | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
| 5CDS-intron | ENST00000379370 | ENST00000545756 | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
| 5CDS-intron | ENST00000379370 | ENST00000525730 | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
| intron-3CDS | ENST00000477585 | ENST00000263593 | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
| intron-intron | ENST00000477585 | ENST00000545756 | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
| intron-intron | ENST00000477585 | ENST00000525730 | AGRN | chr1 | 991492 | + | SIAE | chr11 | 124543777 | - |
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FusionProtFeatures for AGRN_SIAE |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AGRN | SIAE |
| Isoform 1: heparan sulfate basal lamina glycoproteinthat plays a central role in the formation and the maintenance ofthe neuromuscular junction (NMJ) and directs key events inpostsynaptic differentiation. Component of the AGRN-LRP4 receptorcomplex that induces the phosphorylation and activation of MUSK.The activation of MUSK in myotubes induces the formation of NMJ byregulating different processes including the transcription ofspecific genes and the clustering of AChR in the postsynapticmembrane. Calcium ions are required for maximal AChR clustering.AGRN function in neurons is highly regulated by alternativesplicing, glycan binding and proteolytic processing. Modulatescalcium ion homeostasis in neurons, specifically by inducing anincrease in cytoplasmic calcium ions. Functions differentially inthe central nervous system (CNS) by inhibiting the alpha(3)-subtype of Na+/K+-ATPase and evoking depolarization at CNSsynapses. This secreted isoform forms a bridge, after release frommotor neurons, to basal lamina through binding laminin via the NtAdomain. Isoform 2: transmembrane form that is the predominateform in neurons of the brain, induces dendritic filopodia andsynapse formation in mature hippocampal neurons in large part dueto the attached glycosaminoglycan chains and the action of Rho-family GTPases. Isoform 1, isoform 4 and isoform 5: neuron-specific (z+)isoforms that contain C-terminal insertions of 8-19 AA are potentactivators of AChR clustering. Isoform 5, agrin (z+8), containingthe 8-AA insert, forms a receptor complex in myotubules containingthe neuronal AGRN, the muscle-specific kinase MUSK and LRP4, amember of the LDL receptor family. The splicing factors, NOVA1 andNOVA2, regulate AGRN splicing and production of the 'z' isoforms. Isoform 3 and isoform 6: lack any 'z' insert, aremuscle-specific and may be involved in endothelial celldifferentiation. Agrin N-terminal 110 kDa subunit: is involved inregulation of neurite outgrowth probably due to the presence ofthe glycosaminoglcan (GAG) side chains of heparan and chondroitinsulfate attached to the Ser/Thr- and Gly/Ser-rich regions. Alsoinvolved in modulation of growth factor signaling (By similarity).{ECO:0000250, ECO:0000269|PubMed:19631309,ECO:0000269|PubMed:21969364}. Agrin C-terminal 22 kDa fragment: this released fragmentis important for agrin signaling and to exert a maximal dendriticfilopodia-inducing effect. All 'z' splice variants (z+) of thisfragment also show an increase in the number of filopodia. | Catalyzes the removal of O-acetyl ester groups fromposition 9 of the parent sialic acid, N-acetylneuraminic acid. |
| 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 AGRN_SIAE |
| 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 AGRN_SIAE |
| 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 |
| AGRN | DAG1, ATXN7, CACNA1A, ATN1, GFI1B, PDIA3, TUBG1, MOV10, NXF1, ZFP41, SKI, CAMKV, CRP, OS9, OLFM3, UBC | SIAE | FBXO6, PTPRK, CPE, HLA-B, ENTPD6, NPTX1, CNTNAP3, MANEAL, OAF, TMEM30A, MR1, COCH, FAM162A, GPR98, GFPT2, MOXD1, LNPEP, PLXNB2, TCTN1, POC1A, NDST2, SGSH, TENM3, ERAP1, MANBA, ITGA8, TMEM2, LAMB2, FASTKD3, CHSY3, GDF11, DDX47, TMEM131, ARSK, ARSB, MBTPS1, COL18A1, MANEA, NAAA, RPP38, NRP2, PTGFRN, PLTP, KIAA1161, DCBLD2, SEPN1, GALNT7, TGFBR3, MAN2B2, TMEM132A, GALNS, NAGLU, CTSF, TRIM25 |
| - 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 AGRN_SIAE |
| 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 AGRN_SIAE |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AGRN | C3808739 | MYASTHENIC SYNDROME, CONGENITAL, 8 | 3 | UNIPROT |
| Hgene | AGRN | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Tgene | SIAE | C3150797 | AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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