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Fusion gene ID: 11538 |
FusionGeneSummary for EMILIN2_SMCHD1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EMILIN2_SMCHD1 | Fusion gene ID: 11538 | Hgene | Tgene | Gene symbol | EMILIN2 | SMCHD1 | Gene ID | 84034 | 23347 |
| Gene name | elastin microfibril interfacer 2 | structural maintenance of chromosomes flexible hinge domain containing 1 | |
| Synonyms | EMILIN-2|FOAP-10 | BAMS|FSHD2 | |
| Cytomap | 18p11.32-p11.31 | 18p11.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | EMILIN-2elastin microfibril interface-located protein 2extracellular glycoprotein EMILIN-2 | structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9BXX0 | A6NHR9 | |
| Ensembl transtripts involved in fusion gene | ENST00000254528, ENST00000308080, | ENST00000320876, ENST00000261598, ENST00000609587, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 3=27 |
| # samples | 1 | 3 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EMILIN2 [Title/Abstract] AND SMCHD1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | RV | PAAD | TCGA-IB-7654-01A | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
| * 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 | ENST00000254528 | ENST00000320876 | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
| 5CDS-intron | ENST00000254528 | ENST00000261598 | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
| 5CDS-intron | ENST00000254528 | ENST00000609587 | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
| 3UTR-3CDS | ENST00000308080 | ENST00000320876 | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
| 3UTR-intron | ENST00000308080 | ENST00000261598 | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
| 3UTR-intron | ENST00000308080 | ENST00000609587 | EMILIN2 | chr18 | 2909817 | + | SMCHD1 | chr18 | 2802526 | + |
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FusionProtFeatures for EMILIN2_SMCHD1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EMILIN2 | SMCHD1 |
| May be responsible for anchoring smooth muscle cells toelastic fibers, and may be involved not only in the formation ofthe elastic fiber, but also in the processes that regulate vesselassembly. Has cell adhesive capacity. | Required for maintenance of X inactivation in femalesand hypermethylation of CpG islands associated with inactive X.Involved in a pathway that mediates the methylation of a subset ofCpG islands slowly and requires the methyltransferase DNMT3B (Bysimilarity). Required for DUX4 silencing in somatic cells(PubMed:23143600). {ECO:0000250|UniProtKB:Q6P5D8,ECO:0000269|PubMed:23143600}. |
| 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 | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 177_215 | 941 | 1054 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 253_340 | 941 | 1054 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 369_389 | 941 | 1054 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 578_634 | 941 | 1054 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 784_839 | 941 | 1054 | Compositional bias | Note=Pro-rich |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 893_901 | 941 | 1054 | Compositional bias | Note=Pro-rich |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 44_120 | 941 | 1054 | Domain | EMI |
| Hgene | EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 840_892 | 941 | 1054 | Domain | Note=Collagen-like |
| Tgene | >SMCHD1 | chr18:2909817 | chr18:2802526 | ENST00000261598 | + | 0 | 46 | 111_702 | -63 | 1918 | Region | ATPase activity domain |
| - 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 | >EMILIN2 | chr18:2909817 | chr18:2802526 | ENST00000254528 | + | 7 | 8 | 901_1052 | 941 | 1054 | Domain | C1q |
| Tgene | SMCHD1 | chr18:2909817 | chr18:2802526 | ENST00000320876 | + | 46 | 48 | 111_702 | 1997 | 2006 | Region | ATPase activity domain |
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FusionGeneSequence for EMILIN2_SMCHD1 |
| 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. |
| >In-frame_EMILIN2_ENST00000254528_chr18_2909817_+_SMCHD1_ENST00000320876_chr18_2802526_+_949aa MWQPRRPWPRVPWRWALALLALVGAGLCHAGPQPGYPARPSARNKNWCAYIVNKNVSCSVLEGSESFIQAQYNCAWNQMPCPSALVYRVN FRPRYVTRYKTVTQLEWRCCPGFRGGDCQEGPKDPVKTLRPTPARPRNSLKKATDNEPSQFSEPRKTLSPTGTAQPSWGVDPKEGPQELQ EKKIQVLEEKVLRLTRTVLDLQSSLAGVSENLKHATQDDASRTRAPGLSSQHPKPDTTVSGDTETGQSPGVFNTKESGMKDIKSELAEVK DTLKNKSDKLEELDGKVKGYEGQLRQLQEAAQGPTVTMTTNELYQAYVDSKIDALREELMEGMDRKLADLKNSCEYKLTGLQQQCDDYGS SYLGVIELIGEKETSLRKEINNLRARLQEPSAQANCCDSEKNGDIGQQIKTLDQKIERVAEATRMLNGRLDNEFDRLIVPEPDVDFDAKW NELDARINVTEKNAEEHCFYIEETLRGAINGEVGDLKQLVDQKIQSLEDRLGSVLLQMTNNTGAELSPPGAAALPGVSGSGDERVMMELN HLKDKVQVVEDICLLNIQGKPHGMEGALPNREDRAVRDSLHLLKSLNDTMHRKFQETEQTIQKLQQDFSFLYSQLNHTENDVTHLQKEMS NCRAGENAGMGRFTKVGEQERTVDTLPSPQHPVAHCCSQLEERWQRLQSQVISELDACKECTQGVQREVSMVEGRVSHMEKTCSKLDSIS GNLQRIKEGLNKHVSSLWNCVRQMNGTLRSHSRDISGLKNSVQQFYSHVFQISTDLQDLVKFQPSAKAPSPPPPAEAPKEPLQPEPAPPR PSGPATAEDPGRRPVLPQRPPEERPPQPPGSTGVIAETGQAGPPAGAGVSGRGLPRGVDGQTGSGTVPGAEGFAGAPGYPKSPPVASPGA |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_EMILIN2_ENST00000254528_chr18_2909817_+_SMCHD1_ENST00000320876_chr18_2802526_+_2849nt ATGTGGCAGCCCAGACGGCCCTGGCCCCGCGTGCCCTGGCGCTGGGCGCTGGCGCTGCTGGCCCTGGTTGGCGCGGGGCTGTGCCACGCC GGCCCGCAGCCCGGGTATCCCGCGCGGCCCAGCGCCAGGAACAAGAACTGGTGCGCCTACATCGTGAACAAGAATGTGAGCTGCTCCGTG CTGGAGGGAAGTGAGAGTTTTATTCAGGCTCAGTACAACTGTGCCTGGAACCAGATGCCCTGTCCGTCGGCGCTGGTGTATCGAGTGAAC TTCAGACCTAGATATGTCACTAGGTATAAGACAGTGACACAGTTGGAATGGAGGTGCTGTCCTGGCTTTAGAGGGGGAGATTGCCAAGAA GGTCCCAAAGACCCCGTGAAGACCCTCCGCCCCACGCCGGCTCGGCCTCGAAACAGCTTGAAGAAAGCCACAGATAATGAACCCAGCCAA TTCTCAGAGCCCAGGAAGACTTTGTCCCCAACTGGTACAGCACAACCAAGCTGGGGGGTAGATCCAAAAGAGGGGCCTCAGGAACTTCAG GAAAAGAAGATACAGGTGCTAGAGGAGAAGGTTCTTCGACTCACAAGGACGGTTCTTGACCTCCAGTCTTCCCTTGCTGGAGTGAGTGAA AATCTCAAACATGCCACTCAGGATGATGCCAGTAGAACACGGGCACCAGGGCTCAGCAGCCAGCACCCCAAGCCTGACACCACTGTTAGT GGAGACACAGAAACGGGCCAGAGTCCTGGTGTCTTCAACACTAAGGAATCTGGCATGAAGGACATCAAGTCTGAATTGGCTGAAGTCAAA GATACTCTAAAGAACAAAAGTGACAAGCTGGAAGAGCTGGATGGAAAAGTGAAGGGCTACGAAGGGCAGCTCAGACAGCTCCAGGAAGCA GCTCAGGGCCCGACGGTGACCATGACAACCAACGAACTCTACCAAGCCTATGTGGACAGTAAGATCGACGCCCTGAGAGAGGAGCTCATG GAGGGCATGGACAGAAAGCTGGCTGACCTGAAAAACTCATGTGAGTACAAGCTCACTGGCCTCCAGCAGCAGTGTGATGACTATGGGAGC AGCTACCTGGGAGTGATAGAGCTCATAGGGGAGAAGGAAACAAGCCTGAGAAAAGAAATAAATAACCTCCGAGCCCGGCTACAGGAGCCT TCAGCCCAGGCAAATTGCTGCGACAGTGAAAAGAATGGTGACATTGGTCAACAGATCAAGACATTGGACCAGAAAATCGAGAGAGTTGCT GAAGCCACCAGAATGCTGAATGGAAGACTGGACAATGAGTTTGACCGCCTTATAGTTCCAGAGCCAGATGTGGATTTTGATGCAAAATGG AATGAACTCGATGCAAGGATCAATGTGACGGAGAAGAACGCTGAAGAACATTGCTTTTACATTGAGGAAACCCTTCGGGGCGCCATTAAT GGAGAGGTGGGTGACTTGAAGCAGCTTGTTGATCAGAAAATACAGTCTCTGGAAGACCGTCTGGGGAGCGTTCTCCTACAGATGACCAAT AACACTGGTGCAGAGCTCAGTCCCCCAGGGGCAGCAGCCCTGCCAGGAGTGTCAGGGTCAGGAGATGAACGGGTCATGATGGAATTAAAC CACCTGAAGGACAAAGTTCAAGTTGTTGAAGACATTTGCCTGCTGAACATCCAGGGAAAGCCTCATGGGATGGAAGGTGCCTTGCCAAAC AGGGAAGACCGCGCAGTACGCGACAGCCTGCACCTTTTGAAATCTCTCAACGACACGATGCACAGGAAGTTTCAAGAAACCGAACAAACC ATCCAGAAACTTCAACAGGATTTTAGTTTTCTTTATTCTCAATTAAACCACACAGAAAATGATGTGACTCATCTTCAAAAGGAAATGAGC AATTGTAGAGCAGGTGAAAACGCTGGCATGGGTAGGTTCACTAAGGTGGGTGAGCAAGAAAGGACAGTGGACACCCTGCCGTCCCCCCAG CACCCCGTGGCTCATTGCTGCAGTCAGCTGGAGGAGAGGTGGCAGAGGTTGCAGAGCCAGGTCATCTCGGAGCTGGATGCTTGTAAGGAA TGCACGCAGGGGGTCCAGAGGGAGGTCTCCATGGTGGAGGGCAGGGTGTCTCATATGGAGAAAACTTGCAGCAAGCTGGACTCTATCTCA GGAAATCTTCAGAGGATCAAGGAGGGGCTCAACAAGCATGTCAGCAGCCTGTGGAACTGTGTCAGGCAGATGAACGGAACGCTCAGGTCG CATTCCAGAGACATTTCTGGCCTGAAGAATTCAGTCCAGCAGTTCTACAGCCACGTCTTCCAGATTTCTACTGATTTGCAAGATCTGGTC AAATTTCAGCCATCAGCAAAGGCGCCCTCGCCCCCGCCGCCCGCAGAGGCCCCGAAGGAGCCGCTGCAGCCCGAGCCCGCCCCGCCGAGG CCCAGCGGCCCCGCAACCGCAGAGGACCCTGGGCGACGGCCCGTCCTGCCCCAGCGGCCCCCCGAGGAGAGGCCGCCCCAGCCGCCAGGC TCCACCGGGGTCATCGCGGAGACGGGCCAGGCCGGGCCCCCCGCAGGCGCAGGCGTGTCTGGGCGGGGTCTGCCGCGGGGCGTGGACGGC CAGACCGGGAGCGGCACCGTCCCCGGCGCAGAAGGCTTCGCGGGCGCACCAGGATACCCGAAGTCACCTCCTGTAGCTTCCCCAGGAGCT CCGGTGCCTTCTCTGGTGTCTTTTTCTGCGGGGCTCACCCAGAAGCCTTTCCCCAGTGATGGGGGCGTTGTCCTCTTTAACAAAGTGCTG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_EMILIN2_ENST00000254528_chr18_2909817_+_SMCHD1_ENST00000320876_chr18_2802526_+_5473nt CCGGAGGGGGCGGCCGCGGAGCACTGGTTGGAGCGCCGCGAAGCGCCCGAGCCTCTTGCCTTCGCGGGCGGCGCCCTGGCCGCCGGCAGC CTTGTGGCCGGTGCCCCGATCCGCCGCGCTCCGGACCCGGGCAGGCGGGGCGCGCCCGCTGCGCGCGGGATGTGGCAGCCCAGACGGCCC TGGCCCCGCGTGCCCTGGCGCTGGGCGCTGGCGCTGCTGGCCCTGGTTGGCGCGGGGCTGTGCCACGCCGGCCCGCAGCCCGGGTATCCC GCGCGGCCCAGCGCCAGGAACAAGAACTGGTGCGCCTACATCGTGAACAAGAATGTGAGCTGCTCCGTGCTGGAGGGAAGTGAGAGTTTT ATTCAGGCTCAGTACAACTGTGCCTGGAACCAGATGCCCTGTCCGTCGGCGCTGGTGTATCGAGTGAACTTCAGACCTAGATATGTCACT AGGTATAAGACAGTGACACAGTTGGAATGGAGGTGCTGTCCTGGCTTTAGAGGGGGAGATTGCCAAGAAGGTCCCAAAGACCCCGTGAAG ACCCTCCGCCCCACGCCGGCTCGGCCTCGAAACAGCTTGAAGAAAGCCACAGATAATGAACCCAGCCAATTCTCAGAGCCCAGGAAGACT TTGTCCCCAACTGGTACAGCACAACCAAGCTGGGGGGTAGATCCAAAAGAGGGGCCTCAGGAACTTCAGGAAAAGAAGATACAGGTGCTA GAGGAGAAGGTTCTTCGACTCACAAGGACGGTTCTTGACCTCCAGTCTTCCCTTGCTGGAGTGAGTGAAAATCTCAAACATGCCACTCAG GATGATGCCAGTAGAACACGGGCACCAGGGCTCAGCAGCCAGCACCCCAAGCCTGACACCACTGTTAGTGGAGACACAGAAACGGGCCAG AGTCCTGGTGTCTTCAACACTAAGGAATCTGGCATGAAGGACATCAAGTCTGAATTGGCTGAAGTCAAAGATACTCTAAAGAACAAAAGT GACAAGCTGGAAGAGCTGGATGGAAAAGTGAAGGGCTACGAAGGGCAGCTCAGACAGCTCCAGGAAGCAGCTCAGGGCCCGACGGTGACC ATGACAACCAACGAACTCTACCAAGCCTATGTGGACAGTAAGATCGACGCCCTGAGAGAGGAGCTCATGGAGGGCATGGACAGAAAGCTG GCTGACCTGAAAAACTCATGTGAGTACAAGCTCACTGGCCTCCAGCAGCAGTGTGATGACTATGGGAGCAGCTACCTGGGAGTGATAGAG CTCATAGGGGAGAAGGAAACAAGCCTGAGAAAAGAAATAAATAACCTCCGAGCCCGGCTACAGGAGCCTTCAGCCCAGGCAAATTGCTGC GACAGTGAAAAGAATGGTGACATTGGTCAACAGATCAAGACATTGGACCAGAAAATCGAGAGAGTTGCTGAAGCCACCAGAATGCTGAAT GGAAGACTGGACAATGAGTTTGACCGCCTTATAGTTCCAGAGCCAGATGTGGATTTTGATGCAAAATGGAATGAACTCGATGCAAGGATC AATGTGACGGAGAAGAACGCTGAAGAACATTGCTTTTACATTGAGGAAACCCTTCGGGGCGCCATTAATGGAGAGGTGGGTGACTTGAAG CAGCTTGTTGATCAGAAAATACAGTCTCTGGAAGACCGTCTGGGGAGCGTTCTCCTACAGATGACCAATAACACTGGTGCAGAGCTCAGT CCCCCAGGGGCAGCAGCCCTGCCAGGAGTGTCAGGGTCAGGAGATGAACGGGTCATGATGGAATTAAACCACCTGAAGGACAAAGTTCAA GTTGTTGAAGACATTTGCCTGCTGAACATCCAGGGAAAGCCTCATGGGATGGAAGGTGCCTTGCCAAACAGGGAAGACCGCGCAGTACGC GACAGCCTGCACCTTTTGAAATCTCTCAACGACACGATGCACAGGAAGTTTCAAGAAACCGAACAAACCATCCAGAAACTTCAACAGGAT TTTAGTTTTCTTTATTCTCAATTAAACCACACAGAAAATGATGTGACTCATCTTCAAAAGGAAATGAGCAATTGTAGAGCAGGTGAAAAC GCTGGCATGGGTAGGTTCACTAAGGTGGGTGAGCAAGAAAGGACAGTGGACACCCTGCCGTCCCCCCAGCACCCCGTGGCTCATTGCTGC AGTCAGCTGGAGGAGAGGTGGCAGAGGTTGCAGAGCCAGGTCATCTCGGAGCTGGATGCTTGTAAGGAATGCACGCAGGGGGTCCAGAGG GAGGTCTCCATGGTGGAGGGCAGGGTGTCTCATATGGAGAAAACTTGCAGCAAGCTGGACTCTATCTCAGGAAATCTTCAGAGGATCAAG GAGGGGCTCAACAAGCATGTCAGCAGCCTGTGGAACTGTGTCAGGCAGATGAACGGAACGCTCAGGTCGCATTCCAGAGACATTTCTGGC CTGAAGAATTCAGTCCAGCAGTTCTACAGCCACGTCTTCCAGATTTCTACTGATTTGCAAGATCTGGTCAAATTTCAGCCATCAGCAAAG GCGCCCTCGCCCCCGCCGCCCGCAGAGGCCCCGAAGGAGCCGCTGCAGCCCGAGCCCGCCCCGCCGAGGCCCAGCGGCCCCGCAACCGCA GAGGACCCTGGGCGACGGCCCGTCCTGCCCCAGCGGCCCCCCGAGGAGAGGCCGCCCCAGCCGCCAGGCTCCACCGGGGTCATCGCGGAG ACGGGCCAGGCCGGGCCCCCCGCAGGCGCAGGCGTGTCTGGGCGGGGTCTGCCGCGGGGCGTGGACGGCCAGACCGGGAGCGGCACCGTC CCCGGCGCAGAAGGCTTCGCGGGCGCACCAGGATACCCGAAGTCACCTCCTGTAGCTTCCCCAGGAGCTCCGGTGCCTTCTCTGGTGTCT TTTTCTGCGGGGCTCACCCAGAAGCCTTTCCCCAGTGATGGGGGCGTTGTCCTCTTTAACAAAGTGCTGGTGAACGACGGGGATGTTTAC AACCCCAGCACCGGATTATAACCAAAACAGATGTATGAGAGGTGACAGAGAGAAGAGGCCATTGGTCTCAGTAAGAATGCCCTGCTTTCT GCATCTCTGTTTCAGAAGACCAAGAGGGTGACTTACCAGACTGAGTATTTCTGGGGACAATACAAGTACCTGGGCATGAATTTCCATTTC GATTCAGATGGGACTGGAAACAACCATTCAATTTTATGAATCTTACTGGACATTATGGATTTACTGGAATTATTCCAGACATTATGCCCT TTGGTTGTCACTACCTTGCAAATGTGTAAGAGGAAAATGTGCTAATGTGGCAGTGACTGTAAAACTGGCACATGGCATTTATTAATCCTG AAGAAAAGTACATGTACTATTTTTCAGTATAAATATAATGAACATGTCAGAACTATTTCTTGAAAACCTTTTTATTACTTTTGCGTGAAT TTATTTAACAAAGATGTTTTGTCTTTTGTGTAAGGGAGGTTCTAGAGGCTAGATGTTTAATTGTAAATATGTGAGGAAACTCAATGCAGA ATTCAGGATAAAAATTTTAAAAGCACAGGTATTTGGGAATTGAAATGTTAAGATACCCAGAACAACATTAAATCAATGAGTGAACTTGTG ACAGTGGTAGCATTTCAAATTTCAAAAGACTTATCCTGTGTGTGTGTGTGTGTGTATATATATATATATATATAAATATATATATATAAA ATATTCAGCAGCACCAAGTTTTATAACTATTGTTTGTTTGACTTTATTAATACTAGAATATGTAGTCTCAGCCTTAATTTTACATTTACA TTATTTTGTAATTTTTTATTACTATTTTTAAGGGGTTAAAGAGAACATACATTCTCACATTAGTGTACTTTCTGGTAGAAAGTTGCTGCA AAAACATTTGAAATGTATATTAACCTAATGTATGTCATATATATGTCTTTGTGTAAGTTCAAGACTATTGATCTGTGAAGTTATTTTGTA AGGACATACATTTGGTAAGTAAGTTTGTGTCCCAGGAAATGTATGTGTTTTTAAACCCTTTCTAAATATGCAGGCCATTAATAAATAAGA TTGTTTCTTCCCTACTGAATAGATAAGTGTTTTTCTTTTTTAAAATTGGAAGCTTCATAAAAGTTATCTTGTTAAAAAACGATGATGATG TTAACCTATCTATCTTTATAATTGGAAATTATTTAAACTGTTTGTTGTTACAGAAGAAACAAAATGGTAATTACAGAATTAGCTGTGGGG AAGATTGGCTCCCATGGTACTACAGGTTGAGTATCCCTTATTCAAAATGGTTGGGACCTGAAGTGTTTTGGATTTTGGTTTTTTGTGGGG TTTTTAAATTATTATTTTGGAATATTTGCATTATATTTACCAATTTAGCATCCCTAATCCAAAAATCTTTCATTAGAAATTGGAAATGCT TCAATGAGCATTTCCCTTATGTGTCATATCTGCGCTCAAATGTTTTGAATTTTGGAACATTTCTTGTTTCTGACTTTTAGATTAGGGATA CTCACCCCGTACCAATATTTGGAGTCCTTAGACATTAGATTATATGAAAATGATTGATTGATAGGTAAGAAAGGTTAAAGAGAAATGACT TTTTAGGAACTAGACTTGAACGTATAATTAATATGTGGAACTAGTTTGCTTTTATAATTCATTGTATCAAGAAGGAGTCATGTTTTAAAT CCAAGGCATTGAGACTATCTAGAAGCAAAAAAGTTGGTTTTAAAAATTCTTTTTATTAGAAGTGTGTTTAAAAACATGTCTTTTTTTCCC TTGAGCGACAGTGGCCTCACTACATTGCCCAGGCTAGTCTTGAACTCCTGGGTTCAAGCAGTCTTCCTGCCTTGGCCTCCTAAGTAGCAG GGATTACAGGCATGCACCCACATGCCAATTTTTATTGCTTAAAATGGCGAGTTCTATGGATATTATCTAGCCCCAAGCCCATATCTGTAC ACTTTTGTTCATTTTATAATACCAGAAAGAATGTTCTATCAGTAAAAGAAGGTTTTTAAGTATGAATCTCCATTTTTGTGGAGTTTTTCT ACCCTGTAAAAATTAACTTTGTGGTTCCCAGTAATTACAGTAAGGAGTTTTTCTATATTTTCACAGTTGGATTTATCTAAGGATATTTCT CAGCATATTAAGGAATCCTTTTCTACATTTGAGCAAATACTGAGGTTCATGTTGTACCAAATAATAATAAATTGCTTTTGTGTTTAATAT GTAACACGTAAGAACAATTGAAATTTTCTTCTAAGATTTAATACTAGTCTTTTAGTATAAAGGAATGTAACTGGAGAAAAAAATTAATGC TACAGCCATTTATCCTGTGTTATGTGTTATATAATCTGAAATTTGTCACAATGTTACAATCAGGAAGTTTTTTTTCTGGTTTCTTCTTCC |
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FusionGenePPI for EMILIN2_SMCHD1 |
| 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 |
| EMILIN2 | EMILIN1, FBXO6, NELL2, OS9, PCDHGB4, NELL1, DEFA5, PCDHB11, TRHDE | SMCHD1 | SIRT7, BARD1, NOTCH1, FN1, ITGA4, FBXO6, HECW2, LGR4, CUL7, OBSL1, CCDC8, EED, RNF2, SUMO2, KIAA0368, MVB12A, TSG101, TRIM25, WARS, NTRK1, IFI16, HIST1H2BG, HIST1H3A, SRPK2, LRIF1, SNW1, CDC5L, DERL1, TRPC4AP, TSHB, NR3C1, UBE2A |
| - 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 EMILIN2_SMCHD1 |
| 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 EMILIN2_SMCHD1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SMCHD1 | C1834671 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | 1 | CTD_human;UNIPROT |
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