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Fusion gene ID: 33658 |
FusionGeneSummary for SH3GL1_ZIC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SH3GL1_ZIC1 | Fusion gene ID: 33658 | Hgene | Tgene | Gene symbol | SH3GL1 | ZIC1 | Gene ID | 6455 | 7545 |
| Gene name | SH3 domain containing GRB2 like 1, endophilin A2 | Zic family member 1 | |
| Synonyms | CNSA1|EEN|SH3D2B|SH3P8 | CRS6|ZIC|ZNF201 | |
| Cytomap | 19p13.3 | 3q24 | |
| Type of gene | protein-coding | protein-coding | |
| Description | endophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene protein | zinc finger protein ZIC 1Zic family member 1 (odd-paired homolog, Drosophila)Zinc finger protein of the cerebellum 1zinc finger protein 201 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q99961 | Q15915 | |
| Ensembl transtripts involved in fusion gene | ENST00000269886, ENST00000598564, ENST00000417295, | ENST00000474034, ENST00000282928, | |
| Fusion gene scores | * DoF score | 12 X 5 X 10=600 | 3 X 3 X 3=27 |
| # samples | 12 | 3 | |
| ** MAII score | log2(12/600*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SH3GL1 [Title/Abstract] AND ZIC1 [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 | ZIC1 | GO:0007420 | brain development | 8542595 |
| 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 | SARC | TCGA-KD-A5QS-01A | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
| * 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 |
| 5CDS-intron | ENST00000269886 | ENST00000474034 | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
| 5CDS-intron | ENST00000269886 | ENST00000282928 | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
| 5CDS-intron | ENST00000598564 | ENST00000474034 | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
| 5CDS-intron | ENST00000598564 | ENST00000282928 | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
| 5CDS-intron | ENST00000417295 | ENST00000474034 | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
| 5CDS-intron | ENST00000417295 | ENST00000282928 | SH3GL1 | chr19 | 4400321 | - | ZIC1 | chr3 | 147130305 | + |
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FusionProtFeatures for SH3GL1_ZIC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SH3GL1 | ZIC1 |
| Implicated in endocytosis. May recruit other proteins tomembranes with high curvature (By similarity). {ECO:0000250}. | Acts as a transcriptional activator. Involved inneurogenesis. Plays important roles in the early stage oforganogenesis of the CNS, as well as during dorsal spinal corddevelopment and maturation of the cerebellum. Involved in thespatial distribution of mossy fiber (MF) neurons within thepontine gray nucleus (PGN). Plays a role in the regulation of MFaxon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flowmechanotransduction in osteocytes. Retains nuclear GLI1 and GLI3in the cytoplasm. Binds to the minimal GLI-consensus sequence 5'-TGGGTGGTC-3' (By similarity). {ECO:0000250|UniProtKB:P46684}. |
| 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 SH3GL1_ZIC1 |
| 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 SH3GL1_ZIC1 |
| 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 |
| SH3GL1 | SH3GL1, SH2D4A, DPPA4, SH3GL3, DNM1, CREBBP, PRMT1, KHDRBS1, YWHAZ, DPYSL4, SEPT8, SH3GL2, PTPRO, VIM, ITSN2, PDCD6IP, SYNJ1, LRRK2, PML, B3GAT1, AARSD1, ACTR3, ARPC2, FUBP1, RPA1, ACTR2, ANP32B, ARPC1A, ARPC4, ARPC5, ARPC5L, BAG1, CALR, CALU, CRTAP, GTF2E1, GTF2F2, KIAA1279, LAP3, NIF3L1, NSUN2, PFDN1, PFDN5, PRKACA, TRMT10A, SH3GLB2, THG1L, TP53RK, TPRKB, TTC1, SH3GLB1, DNM1L, MTA1, GPKOW, VPS37C, MAL2, FAM102A, AZU1, CCDC101, ARHGAP8, AURKA, EWSR1, NF2, POU5F1, CALM1, CDH1, TPTE2, C8G, GPX7, IMPDH1, FBXO32 | ZIC1 | GLI1, GLI2, GLI3, SDR9C7, PLBD1, GDPD3, CTSH, S100A7, SERPINB4, CAPNS2, CPA4, PLA2G4E, RNASE7, SERPINA3, SERPINB3, CTSV, SERPINB1, CASP14, ALOX12B, TGM1, S100P, KLK7, GM2A, AZGP1, LCN2, ACPP, ECM1, HAL, IVL, GSDMA, ARG1, NCCRP1, ASAH1, IMPA2, S100A16, APOD, KPRP, SERPINB13, S100A14, S100A9, CSTA, CAPN1, ALOXE3, GAPDH |
| - 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 SH3GL1_ZIC1 |
| 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 SH3GL1_ZIC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ZIC1 | C4225269 | CRANIOSYNOSTOSIS 6 | 1 | UNIPROT |
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