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Fusion gene ID: 11538 |
FusionGeneSummary for EMILIN2_SMCHD1 |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EMILIN2_SMCHD1 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SMCHD1 | C1834671 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B | 1 | CTD_human;UNIPROT |