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Fusion gene ID: 34967 |
FusionGeneSummary for SMPDL3A_FABP7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMPDL3A_FABP7 | Fusion gene ID: 34967 | Hgene | Tgene | Gene symbol | SMPDL3A | FABP7 | Gene ID | 10924 | 2173 |
| Gene name | sphingomyelin phosphodiesterase acid like 3A | fatty acid binding protein 7 | |
| Synonyms | ASM3A|ASML3a|yR36GH4.1 | B-FABP|BLBP|FABPB|MRG | |
| Cytomap | 6q22.31 | 6q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acid sphingomyelinase-like phosphodiesterase 3a0610010C24RikASM-like phosphodiesterase 3a | fatty acid-binding protein, brainbrain lipid-binding proteinbrain-type fatty acid-binding proteinhypothetical protein DKFZp547J2313mammary-derived growth inhibitor-related | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q92484 | O15540 | |
| Ensembl transtripts involved in fusion gene | ENST00000368440, ENST00000487215, ENST00000539041, | ENST00000368444, ENST00000356535, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SMPDL3A [Title/Abstract] AND FABP7 [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 | SMPDL3A | GO:0006685 | sphingomyelin catabolic process | 26783088 |
| Hgene | SMPDL3A | GO:0009143 | nucleoside triphosphate catabolic process | 26783088 |
| 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 | STAD | TCGA-VQ-AA6D-01A | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
| * 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 | ENST00000368440 | ENST00000368444 | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
| In-frame | ENST00000368440 | ENST00000356535 | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
| 3UTR-3CDS | ENST00000487215 | ENST00000368444 | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
| 3UTR-3CDS | ENST00000487215 | ENST00000356535 | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
| 5UTR-3CDS | ENST00000539041 | ENST00000368444 | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
| 5UTR-3CDS | ENST00000539041 | ENST00000356535 | SMPDL3A | chr6 | 123110603 | + | FABP7 | chr6 | 123101436 | + |
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FusionProtFeatures for SMPDL3A_FABP7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMPDL3A | FABP7 |
| Has in vitro nucleotide phosphodiesterase activity withnucleoside triphosphates, such as ATP (PubMed:25288789,PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP(PubMed:25288789). Has lower activity with nucleosidediphosphates, and no activity with nucleoside monophosphates(PubMed:25288789, PubMed:26783088). Has in vitro activity withCDP-choline, giving rise to CMP and phosphocholine. Has in vitroactivity with CDP-ethanolamine (PubMed:26783088). Does not havesphingomyelin phosphodiesterase activity (PubMed:25288789,PubMed:26783088). {ECO:0000269|PubMed:25288789,ECO:0000269|PubMed:26783088}. | B-FABP could be involved in the transport of a so farunknown hydrophobic ligand with potential morphogenic activityduring CNS development. It is required for the establishment ofthe radial glial fiber system in developing brain, a system thatis necessary for the migration of immature neurons to establishcortical layers (By similarity). {ECO:0000250}. |
| 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 | >FABP7 | chr6:123110603 | chr6:123101436 | ENST00000368444 | + | 0 | 4 | 127_129 | 24 | 133 | Region | Note=Fatty acid binding |
| - 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 SMPDL3A_FABP7 |
| 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 SMPDL3A_FABP7 |
| 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 |
| SMPDL3A | APOA1 | FABP7 | AKR1B1, HINT1, SOD1, TAGLN, TAGLN2, TAGLN3, TKT, TKTL2, PPIL3, TENC1 |
| - 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 SMPDL3A_FABP7 |
| 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 SMPDL3A_FABP7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMPDL3A | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | FABP7 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| Tgene | FABP7 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Tgene | FABP7 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | FABP7 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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