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Fusion gene ID: 23103 |
FusionGeneSummary for MYO18A_JAGN1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYO18A_JAGN1 | Fusion gene ID: 23103 | Hgene | Tgene | Gene symbol | MYO18A | JAGN1 | Gene ID | 399687 | 84522 |
| Gene name | myosin XVIIIA | jagunal homolog 1 | |
| Synonyms | MAJN|MYSPDZ|SP-R210|SPR210 | GL009|SCN6 | |
| Cytomap | 17q11.2 | 3p25.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | unconventional myosin-XVIIIaSP-A receptor subunit SP-R210 alphaSmolecule associated with JAK3 N-terminusmyosin 18Amyosin containing PDZ domainmyosin containing a PDZ domainsurfactant protein receptor SP-R210 | protein jagunal homolog 1 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q92614 | Q8N5M9 | |
| Ensembl transtripts involved in fusion gene | ENST00000354329, ENST00000529578, ENST00000533112, ENST00000531253, ENST00000527372, | ENST00000307768, ENST00000489724, | |
| Fusion gene scores | * DoF score | 18 X 14 X 9=2268 | 2 X 2 X 2=8 |
| # samples | 21 | 2 | |
| ** MAII score | log2(21/2268*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: MYO18A [Title/Abstract] AND JAGN1 [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 | BLCA | TCGA-FD-A3B6-01A | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| * 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 | ENST00000354329 | ENST00000307768 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| 5CDS-3UTR | ENST00000354329 | ENST00000489724 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| intron-3CDS | ENST00000529578 | ENST00000307768 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| intron-3UTR | ENST00000529578 | ENST00000489724 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| Frame-shift | ENST00000533112 | ENST00000307768 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| 5CDS-3UTR | ENST00000533112 | ENST00000489724 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| Frame-shift | ENST00000531253 | ENST00000307768 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| 5CDS-3UTR | ENST00000531253 | ENST00000489724 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| Frame-shift | ENST00000527372 | ENST00000307768 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
| 5CDS-3UTR | ENST00000527372 | ENST00000489724 | MYO18A | chr17 | 27492960 | - | JAGN1 | chr3 | 9934599 | + |
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FusionProtFeatures for MYO18A_JAGN1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYO18A | JAGN1 |
| May link Golgi membranes to the cytoskeleton andparticipate in the tensile force required for vesicle budding fromthe Golgi. Thereby, may play a role in Golgi membrane traffickingand could indirectly give its flattened shape to the Golgiapparatus (PubMed:19837035, PubMed:23345592). Alternatively, inconcert with LURAP1 and CDC42BPA/CDC42BPB, has been involved inmodulating lamellar actomyosin retrograde flow that is crucial tocell protrusion and migration (PubMed:18854160). May be involvedin the maintenance of the stromal cell architectures required forcell to cell contact (By similarity). Regulates trafficking,expression, and activation of innate immune receptors onmacrophages. Plays a role to suppress inflammatory responsivenessof macrophages via a mechanism that modulates CD14 trafficking(PubMed:25965346). Acts as a receptor of surfactant-associatedprotein A (SFTPA1/SP-A) and plays an important role ininternalization and clearance of SFTPA1-opsonized S.aureus byalveolar macrophages (PubMed:16087679, PubMed:21123169). Stronglyenhances natural killer cell cytotoxicity (PubMed:27467939).{ECO:0000250|UniProtKB:Q9JMH9, ECO:0000269|PubMed:16087679,ECO:0000269|PubMed:18854160, ECO:0000269|PubMed:19837035,ECO:0000269|PubMed:21123169, ECO:0000269|PubMed:23345592,ECO:0000269|PubMed:25965346, ECO:0000269|PubMed:27467939}. | Endoplasmic reticulum transmembrane protein involved invesicle-mediated transport, which is required for neutrophilfunction. Required for vesicle-mediated transport; it is howeverunclear whether it is involved in early secretory pathway orintracellular protein transport. Acts as a regulator of neutrophilfunction, probably via its role in vesicle-mediated transport:required for defense against fungal pathogens and for granulocytecolony-stimulating factor (GM-CSF) signaling pathway; possibly byregulating glycosylation and/or targeting of proteins contributingto the viability and migration of neutrophils.{ECO:0000269|PubMed:25129144, ECO:0000305}. |
| 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 MYO18A_JAGN1 |
| 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 MYO18A_JAGN1 |
| 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 |
| MYO18A | GRB2, ARAF, MARK4, CUL4B, ATXN1, PAN2, ENO1, SHMT2, MOV10, NXF1, YIF1B, DDRGK1, LIMS1, LRFN4, PYCR2, UPK3B, RCN1, SEPT1, SP6, CDKL4, FIG4, SLC30A6, SPC25, UQCRB, YEATS4, DDX46, DIEXF, PUF60, SMARCA4, ACTA1, ACTB, ACTG1, ACTN4, AP2A1, ANXA2, DST, CALM1, CAPZA1, CAPZA2, CAPZB, CFL1, CFL2, AP2M1, CLTA, CLTB, CLTC, CSNK1A1, DAB2, DAPK3, DBN1, DSG2, CTTN, FLII, FLNA, FLNB, FYN, GSN, HMGB2, ABLIM1, LMO7, MYO1B, MYH9, MYL6, MYO1C, MYO1E, MYO5A, MYO5B, MYO6, PPP1R12A, PPP1R12B, PIK3C2A, PLEC, PPP1CA, PPP1CB, TWF1, RANGAP1, SPTAN1, SPTBN1, SPTBN2, SSFA2, ST5, SVIL, TMOD1, TNFAIP1, TPM1, TPM2, TPM3, TPM4, CORO2A, LUZP1, PICALM, SORBS2, LRRFIP2, TJP2, CDC42BPB, CLINT1, ARHGAP11A, ARHGEF17, SEC16A, WDR1, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, BASP1, DCTN2, MYL12A, DSTN, TRIOBP, AKAP2, SYNPO, CEP162, LIMCH1, SIPA1L3, MPRIP, COBL, SPECC1L, FBXO46, CORO1C, CCRN4L, PLEKHG3, RAI14, TES, TMOD3, LIMA1, BMP2K, MYO5C, CORO1B, KIAA1211, CGN, MICAL3, ARHGAP21, AFAP1, INF2, EFHD2, CYBRD1, MYO19, ARPC5L, KCTD10, LZTS2, STON2, SSH2, PHLDB2, NEXN, SPECC1, MISP, MYL6B, PPP1R18, TPRN, DDX51, CDK2, IQGAP1, PLK2, ANLN, GAN, MYL3, RPL15, PATL1, HBZ, NOX4, DLST | JAGN1 | APP, VKORC1, CLEC7A, CREB3L1, CCDC155, DDOST, SCAMP2, TECR, SEC61A1, VDAC2, VDAC3, TCTN2, TCTN3, TMEM216, LMNA |
| - 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 MYO18A_JAGN1 |
| 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 MYO18A_JAGN1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | JAGN1 | C0027947 | Neutropenia | 2 | CTD_human |
| Tgene | JAGN1 | C4014954 | NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | 1 | ORPHANET;UNIPROT |
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