|
||||||
|
 | 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:DEAF1-SH3GL1 (FusionGDB2 ID:HG10522TG6455) |
Fusion Gene Summary for DEAF1-SH3GL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DEAF1-SH3GL1 | Fusion gene ID: hg10522tg6455 | Hgene | Tgene | Gene symbol | DEAF1 | SH3GL1 | Gene ID | 10522 | 6455 |
| Gene name | DEAF1 transcription factor | SH3 domain containing GRB2 like 1, endophilin A2 | |
| Synonyms | MRD24|NUDR|SPN|ZMYND5 | CNSA1|EEN|SH3D2B|SH3P8 | |
| Cytomap | ('DEAF1')('SH3GL1') 11p15.5 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | deformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5 | 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 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | . | Q99961 | |
| Ensembl transtripts involved in fusion gene | ENST00000382409, ENST00000338675, ENST00000525904, | ||
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 10 X 6 X 9=540 |
| # samples | 8 | 10 | |
| ** MAII score | log2(8/120*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/540*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DEAF1 [Title/Abstract] AND SH3GL1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | DEAF1(686858)-SH3GL1(4366991), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | DEAF1-SH3GL1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DEAF1-SH3GL1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. DEAF1-SH3GL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. DEAF1-SH3GL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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 | DEAF1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 24726472 |
| Hgene | DEAF1 | GO:0033599 | regulation of mammary gland epithelial cell proliferation | 18826651 |
| Hgene | DEAF1 | GO:0045892 | negative regulation of transcription, DNA-templated | 24726472 |
| Hgene | DEAF1 | GO:0045893 | positive regulation of transcription, DNA-templated | 24726472 |
| Fusion gene breakpoints across DEAF1 (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 SH3GL1 (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 * 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 | BLCA | TCGA-XF-AAMZ-01A | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| ChimerDB4 | BLCA | TCGA-XF-AAMZ | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
Top |
Fusion Gene ORF analysis for DEAF1-SH3GL1 |
| 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 | ENST00000382409 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| In-frame | ENST00000382409 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| In-frame | ENST00000382409 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000338675 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000338675 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000338675 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000525904 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000525904 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| intron-3CDS | ENST00000525904 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - |
| 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) |
| ENST00000382409 | DEAF1 | chr11 | 686858 | - | ENST00000269886 | SH3GL1 | chr19 | 4366991 | - | 3581 | 1289 | 485 | 2350 | 621 |
| ENST00000382409 | DEAF1 | chr11 | 686858 | - | ENST00000598564 | SH3GL1 | chr19 | 4366991 | - | 3388 | 1289 | 485 | 2158 | 557 |
| ENST00000382409 | DEAF1 | chr11 | 686858 | - | ENST00000417295 | SH3GL1 | chr19 | 4366991 | - | 2491 | 1289 | 485 | 2206 | 573 |
| 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 |
| ENST00000382409 | ENST00000269886 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - | 0.012877779 | 0.98712224 |
| ENST00000382409 | ENST00000598564 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - | 0.012320465 | 0.9876795 |
| ENST00000382409 | ENST00000417295 | DEAF1 | chr11 | 686858 | - | SH3GL1 | chr19 | 4366991 | - | 0.010277053 | 0.98972297 |
Top |
Fusion Genomic Features for DEAF1-SH3GL1 |
| 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. |
 |
Top |
Fusion Protein Features for DEAF1-SH3GL1 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:686858/chr19:4366991) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | SH3GL1 |
| FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (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 |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000382409 | - | 5 | 12 | 2_122 | 268 | 566.0 | Compositional bias | Note=Ala-rich |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000269886 | 0 | 10 | 145_250 | 15 | 369.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000417295 | 0 | 9 | 145_250 | 15 | 321.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000598564 | 0 | 10 | 145_250 | 15 | 305.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000269886 | 0 | 10 | 18_249 | 15 | 369.0 | Domain | BAR | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000269886 | 0 | 10 | 306_365 | 15 | 369.0 | Domain | SH3 | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000417295 | 0 | 9 | 18_249 | 15 | 321.0 | Domain | BAR | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000417295 | 0 | 9 | 306_365 | 15 | 321.0 | Domain | SH3 | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000598564 | 0 | 10 | 18_249 | 15 | 305.0 | Domain | BAR | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000598564 | 0 | 10 | 306_365 | 15 | 305.0 | Domain | SH3 | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000269886 | 0 | 10 | 60_87 | 15 | 369.0 | Region | Required for dimerization upon membrane association | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000417295 | 0 | 9 | 60_87 | 15 | 321.0 | Region | Required for dimerization upon membrane association | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000598564 | 0 | 10 | 60_87 | 15 | 305.0 | Region | Required for dimerization upon membrane association |
| - 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 |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000338675 | - | 1 | 11 | 2_122 | 0 | 491.0 | Compositional bias | Note=Ala-rich |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000338675 | - | 1 | 11 | 383_439 | 0 | 491.0 | Compositional bias | Note=Pro-rich |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000382409 | - | 5 | 12 | 383_439 | 268 | 566.0 | Compositional bias | Note=Pro-rich |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000338675 | - | 1 | 11 | 193_273 | 0 | 491.0 | Domain | SAND |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000382409 | - | 5 | 12 | 193_273 | 268 | 566.0 | Domain | SAND |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000338675 | - | 1 | 11 | 301_316 | 0 | 491.0 | Motif | Nuclear localization signal |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000382409 | - | 5 | 12 | 301_316 | 268 | 566.0 | Motif | Nuclear localization signal |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000338675 | - | 1 | 11 | 504_540 | 0 | 491.0 | Zinc finger | MYND-type |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000382409 | - | 5 | 12 | 504_540 | 268 | 566.0 | Zinc finger | MYND-type |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000269886 | 0 | 10 | 1_21 | 15 | 369.0 | Region | Membrane-binding amphipathic helix | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000417295 | 0 | 9 | 1_21 | 15 | 321.0 | Region | Membrane-binding amphipathic helix | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000598564 | 0 | 10 | 1_21 | 15 | 305.0 | Region | Membrane-binding amphipathic helix |
Top |
Fusion Gene Sequence for DEAF1-SH3GL1 |
| 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. |
| >22126_22126_1_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000269886_length(transcript)=3581nt_BP=1289nt AAACCCGCGGCACTAAGCTCTCTCTGAGAGGCAGAATTGCGCCGGCCGCCGGCGAGAATCTGCCTAGAGCCGTCCAGCCCTGTCGGCCGG GGACGACAGCCGCCTCAGCCTGTCAGGACAGTGAGGAGAGCAGGGGCCGAGTCTCTCGGAAGCCCTCGTGAGGACTCGGACCTATTCGGA CTGATTCGGCTTCCCACTTCGGGGAACTTCGACCCTCCTCGGTTCAGGACTCGGTCTCGGCTCGGCGGCTTCGTGCAGGTTCGGCTCCTA CTCGGGCAGCCTCTGTTCGCCTCGGCTCCGCTCCGCGGGCGGACTCGGCTCGGCTCTGCTCGGCGGCTGGCTGCCTTTTCGGTCCCTATT CGGGCGGCGGCTTCGGGCGGCCTCGGCCCAGCTCGGGCGTCCTCTTCGGGCCCCGCTTCGGGCTCCGCGACCGGCGCTTCGGGCGGTCCC GGACGGCGCCTTCGGGAAGGCTCGGCGGAGTCCGGATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGG TGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGG AGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGG GCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAACGTGGGGGCTG CTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGG ACAGCCTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTC CCCTCACCCCAGGTCCTCAGTCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGT ACGACAGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCA AGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACG CGGGCCGACCCTTGCAGTGCCTCATCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGA TGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGCCTCGCGGG CTAAGCTGACCATGCTCAACACGGTGTCCAAGATCCGGGGCCAGGTGAAGAACCCCGGCTACCCGCAGTCGGAGGGGCTTCTGGGCGAGT GCATGATCCGCCACGGGAAGGAGCTGGGCGGCGAGTCCAACTTTGGTGACGCATTGCTGGATGCCGGCGAGTCCATGAAGCGCCTGGCAG AGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCCAGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGC ACCACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGG CGCTGGAGAAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCT CGGCCCTGGTGGATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGG AAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCC CCTGCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACAAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCC TGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGA CCAACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCC TGCCGCAGTGACTCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGGCACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCC CTGCTGCCAGGGCGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTGAGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGG GGGGCTTATCTGGGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAACGGTGACGGCTCCCTTCCCCACTCCATGGCGCCAGCC TCCTCCCCCGCTCCCCAACTTCTCGCCCAGCTGGCCGAGGCGGGGCAACACTAAGGTGCTCTTAGAAACACTAATGTTCCTCTGGGGCAG CCCCCACCTCCGTCCTGACCCGACGGGGGCCCGGCCCACTGCCTACCCTCGAGTCCCGCAGCCTTAACAGGATGGGATCGAGGGTCCCCA TGGGGTGGCTCAGAGATAGGACCCTGGTTTTAAATCCCTCCCAGCCTGGTGCTGGTGATGGGCCCTGGCCCTACTCCAGGGCCAATGCAC CCCCGCCTCACACACGCACTCCTTCTCCTCAAGGCCAGGGCAGAGGGCCTCACCGCCTCCCGGGCCTGCTGTCAGCTTGCAGCCCGGGGA CAGAGGCCAGCTGGGATCTGCCTGAGGACAGAGAACATGGTCTCCTGCAGGGCCCTGCCTCCCAAGCCCCGCCCTCAGAAAGCCAAGTAC CTTTTCAGCTTTTTAACTGCCCCCATCCCAACCCAGGGAGGCCTGTGTCACTCTGGCACAAGCTGCCACCACCAGCCACCCACACCCACC CCAGCACACCTCACACGGGACCACAGCCGCGCTGCCGAGGGCCAAGCACAAAGGTTCCAGTGAGCGCATGTCCCAGCCCCTGGTGGCCAG GCTCCCCTTGCTGAGCCGCTGCCACTTCACCCTGTGGGAAGTGGCCCCAGCCATCTCCTCTAGACCAAGGCAGGCAGCCCCGACATCTGC TTCCTCTATCGCCCAATGCAAAATCGATGAAATGGGGAGTTCTCTGGGCCAGGCCACATTCACATTCCCCTCCCCCTGTGGTCCAGTGAA GCCTCCGGACCCCAGGCTCTGCTCTGCCCTGCCCTGCACCCCCCTCGTCAGAAGTACATGAGGGGCGCAGAGATGAGCACACAGCTTTGG GCACGGTCCAGGGCAAACTGAAATGTACGCCTGAATTTTGTAAACAGAAGTATTAAATGTCTCTTTCTACA >22126_22126_1_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000269886_length(amino acids)=621AA_BP=17 MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAA AAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQLV SEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPASRAKLTMLNTVSKIRGQVKNPGYPQSEGLLGECMIRHGKELGGE SNFGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKEIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVA ETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPREPFDLGEPEQSNGGFPCTTAPKIAASS SFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITLTNQIDENWYEGMLDGQSGFFPLSYVEVLVPLPQ -------------------------------------------------------------- >22126_22126_2_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000417295_length(transcript)=2491nt_BP=1289nt AAACCCGCGGCACTAAGCTCTCTCTGAGAGGCAGAATTGCGCCGGCCGCCGGCGAGAATCTGCCTAGAGCCGTCCAGCCCTGTCGGCCGG GGACGACAGCCGCCTCAGCCTGTCAGGACAGTGAGGAGAGCAGGGGCCGAGTCTCTCGGAAGCCCTCGTGAGGACTCGGACCTATTCGGA CTGATTCGGCTTCCCACTTCGGGGAACTTCGACCCTCCTCGGTTCAGGACTCGGTCTCGGCTCGGCGGCTTCGTGCAGGTTCGGCTCCTA CTCGGGCAGCCTCTGTTCGCCTCGGCTCCGCTCCGCGGGCGGACTCGGCTCGGCTCTGCTCGGCGGCTGGCTGCCTTTTCGGTCCCTATT CGGGCGGCGGCTTCGGGCGGCCTCGGCCCAGCTCGGGCGTCCTCTTCGGGCCCCGCTTCGGGCTCCGCGACCGGCGCTTCGGGCGGTCCC GGACGGCGCCTTCGGGAAGGCTCGGCGGAGTCCGGATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGG TGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGG AGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGG GCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAACGTGGGGGCTG CTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGG ACAGCCTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTC CCCTCACCCCAGGTCCTCAGTCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGT ACGACAGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCA AGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACG CGGGCCGACCCTTGCAGTGCCTCATCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGA TGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGGTGACGCAT TGCTGGATGCCGGCGAGTCCATGAAGCGCCTGGCAGAGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCC AGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGCACCACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGC GGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGCTGGAGAAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACC TCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGGATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGG ACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTG ACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACA AGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGG AGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGACCAACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCT TCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCCTGCCGCAGTGACTCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGG CACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCCCTGCTGCCAGGGCGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTG AGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGGGGGGCTTATCTGGGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAAC GGTGACGGCTCCCTTCCCCACTCCATGGCGCCAGCCTCCTCCCCCGCTCCCCAACTTCTCG >22126_22126_2_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000417295_length(amino acids)=573AA_BP=17 MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAA AAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQLV SEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKEIQ HHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMR EASSRPKREYKPKPREPFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITL TNQIDENWYEGMLDGQSGFFPLSYVEVLVPLPQ -------------------------------------------------------------- >22126_22126_3_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000598564_length(transcript)=3388nt_BP=1289nt AAACCCGCGGCACTAAGCTCTCTCTGAGAGGCAGAATTGCGCCGGCCGCCGGCGAGAATCTGCCTAGAGCCGTCCAGCCCTGTCGGCCGG GGACGACAGCCGCCTCAGCCTGTCAGGACAGTGAGGAGAGCAGGGGCCGAGTCTCTCGGAAGCCCTCGTGAGGACTCGGACCTATTCGGA CTGATTCGGCTTCCCACTTCGGGGAACTTCGACCCTCCTCGGTTCAGGACTCGGTCTCGGCTCGGCGGCTTCGTGCAGGTTCGGCTCCTA CTCGGGCAGCCTCTGTTCGCCTCGGCTCCGCTCCGCGGGCGGACTCGGCTCGGCTCTGCTCGGCGGCTGGCTGCCTTTTCGGTCCCTATT CGGGCGGCGGCTTCGGGCGGCCTCGGCCCAGCTCGGGCGTCCTCTTCGGGCCCCGCTTCGGGCTCCGCGACCGGCGCTTCGGGCGGTCCC GGACGGCGCCTTCGGGAAGGCTCGGCGGAGTCCGGATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGG TGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGG AGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGG GCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAACGTGGGGGCTG CTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGG ACAGCCTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTC CCCTCACCCCAGGTCCTCAGTCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGT ACGACAGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCA AGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACG CGGGCCGACCCTTGCAGTGCCTCATCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGA TGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGCCTCGCGGG CTAAGCTGACCATGCTCAACACGGTGTCCAAGATCCGGGGCCAGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGCACCACCTGAAGA AACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGCTGGAGAAGT TCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGG ATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAGCTTCCTCAC GCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAG CCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACAAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGGACCAGCCGA GCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGACCAACCAGATCG ATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCCTGCCGCAGTGAC TCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGGCACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCCCTGCTGCCAGGG CGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTGAGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGGGGGGCTTATCTG GGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAACGGTGACGGCTCCCTTCCCCACTCCATGGCGCCAGCCTCCTCCCCCGCT CCCCAACTTCTCGCCCAGCTGGCCGAGGCGGGGCAACACTAAGGTGCTCTTAGAAACACTAATGTTCCTCTGGGGCAGCCCCCACCTCCG TCCTGACCCGACGGGGGCCCGGCCCACTGCCTACCCTCGAGTCCCGCAGCCTTAACAGGATGGGATCGAGGGTCCCCATGGGGTGGCTCA GAGATAGGACCCTGGTTTTAAATCCCTCCCAGCCTGGTGCTGGTGATGGGCCCTGGCCCTACTCCAGGGCCAATGCACCCCCGCCTCACA CACGCACTCCTTCTCCTCAAGGCCAGGGCAGAGGGCCTCACCGCCTCCCGGGCCTGCTGTCAGCTTGCAGCCCGGGGACAGAGGCCAGCT GGGATCTGCCTGAGGACAGAGAACATGGTCTCCTGCAGGGCCCTGCCTCCCAAGCCCCGCCCTCAGAAAGCCAAGTACCTTTTCAGCTTT TTAACTGCCCCCATCCCAACCCAGGGAGGCCTGTGTCACTCTGGCACAAGCTGCCACCACCAGCCACCCACACCCACCCCAGCACACCTC ACACGGGACCACAGCCGCGCTGCCGAGGGCCAAGCACAAAGGTTCCAGTGAGCGCATGTCCCAGCCCCTGGTGGCCAGGCTCCCCTTGCT GAGCCGCTGCCACTTCACCCTGTGGGAAGTGGCCCCAGCCATCTCCTCTAGACCAAGGCAGGCAGCCCCGACATCTGCTTCCTCTATCGC CCAATGCAAAATCGATGAAATGGGGAGTTCTCTGGGCCAGGCCACATTCACATTCCCCTCCCCCTGTGGTCCAGTGAAGCCTCCGGACCC CAGGCTCTGCTCTGCCCTGCCCTGCACCCCCCTCGTCAGAAGTACATGAGGGGCGCAGAGATGAGCACACAGCTTTGGGCACGGTCCAGG GCAAACTGAAATGTACGCCTGAATTTTGTAAACAGAAGTATTAAATGTCTCTTTCTAC >22126_22126_3_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000598564_length(amino acids)=557AA_BP=17 MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAA AAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQLV SEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPASRAKLTMLNTVSKIRGQNLCEKDLKEIQHHLKKLEGRRLDFDYK KKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPRE PFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITLTNQIDENWYEGMLDGQ SGFFPLSYVEVLVPLPQ -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for DEAF1-SH3GL1 |
| 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 |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000269886 | 0 | 10 | 218_254 | 15.0 | 369.0 | ARC | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000417295 | 0 | 9 | 218_254 | 15.0 | 321.0 | ARC | |
| Tgene | SH3GL1 | chr11:686858 | chr19:4366991 | ENST00000598564 | 0 | 10 | 218_254 | 15.0 | 305.0 | ARC |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000338675 | - | 1 | 11 | 403_478 | 0 | 491.0 | LMO4 |
| Hgene | DEAF1 | chr11:686858 | chr19:4366991 | ENST00000382409 | - | 5 | 12 | 403_478 | 268.0 | 566.0 | LMO4 |
| - 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 |
Top |
Related Drugs for DEAF1-SH3GL1 |
| 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 |
Top |
Related Diseases for DEAF1-SH3GL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DEAF1 | C0041696 | Unipolar Depression | 5 | PSYGENET |
| Hgene | DEAF1 | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| Hgene | DEAF1 | C0011570 | Mental Depression | 4 | PSYGENET |
| Hgene | DEAF1 | C0011581 | Depressive disorder | 4 | PSYGENET |
| Hgene | DEAF1 | C4014414 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | DEAF1 | C4310683 | DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | DEAF1 | C0020796 | Profound Mental Retardation | 1 | CTD_human |
| Hgene | DEAF1 | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human |
| Hgene | DEAF1 | C0795864 | Smith-Magenis syndrome | 1 | ORPHANET |
| Hgene | DEAF1 | C0917816 | Mental deficiency | 1 | CTD_human |
| Hgene | DEAF1 | C3714756 | Intellectual Disability | 1 | CTD_human |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies