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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11538

FusionGeneSummary for EMILIN2_SMCHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: EMILIN2_SMCHD1
Fusion gene ID: 11538
HgeneTgene
Gene symbol

EMILIN2

SMCHD1

Gene ID

84034

23347

Gene nameelastin microfibril interfacer 2structural maintenance of chromosomes flexible hinge domain containing 1
SynonymsEMILIN-2|FOAP-10BAMS|FSHD2
Cytomap

18p11.32-p11.31

18p11.32

Type of geneprotein-codingprotein-coding
DescriptionEMILIN-2elastin microfibril interface-located protein 2extracellular glycoprotein EMILIN-2structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1
Modification date2018052320180519
UniProtAcc

Q9BXX0

A6NHR9

Ensembl transtripts involved in fusion geneENST00000254528, ENST00000308080, 
ENST00000320876, ENST00000261598, 
ENST00000609587, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(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 annotationTumor 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPAADTCGA-IB-7654-01AEMILIN2chr18

2909817

+SMCHD1chr18

2802526

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000254528ENST00000320876EMILIN2chr18

2909817

+SMCHD1chr18

2802526

+
5CDS-intronENST00000254528ENST00000261598EMILIN2chr18

2909817

+SMCHD1chr18

2802526

+
5CDS-intronENST00000254528ENST00000609587EMILIN2chr18

2909817

+SMCHD1chr18

2802526

+
3UTR-3CDSENST00000308080ENST00000320876EMILIN2chr18

2909817

+SMCHD1chr18

2802526

+
3UTR-intronENST00000308080ENST00000261598EMILIN2chr18

2909817

+SMCHD1chr18

2802526

+
3UTR-intronENST00000308080ENST00000609587EMILIN2chr18

2909817

+SMCHD1chr18

2802526

+

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FusionProtFeatures for EMILIN2_SMCHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EMILIN2

Q9BXX0

SMCHD1

A6NHR9

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}.

check buttonRetention 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

download page

.

* 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.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78177_2159411054Coiled coilOntology_term=ECO:0000255
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78253_3409411054Coiled coilOntology_term=ECO:0000255
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78369_3899411054Coiled coilOntology_term=ECO:0000255
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78578_6349411054Coiled coilOntology_term=ECO:0000255
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78784_8399411054Compositional biasNote=Pro-rich
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78893_9019411054Compositional biasNote=Pro-rich
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+7844_1209411054DomainEMI
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78840_8929411054DomainNote=Collagen-like
TgeneSMCHD1chr18:2909817chr18:2802526ENST00000261598+046111_702-631918RegionATPase activity domain

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEMILIN2chr18:2909817chr18:2802526ENST00000254528+78901_10529411054DomainC1q
TgeneSMCHD1chr18:2909817chr18:2802526ENST00000320876+4648111_70219972006RegionATPase activity domain


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FusionGeneSequence for EMILIN2_SMCHD1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
EMILIN2EMILIN1, FBXO6, NELL2, OS9, PCDHGB4, NELL1, DEFA5, PCDHB11, TRHDESMCHD1SIRT7, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for EMILIN2_SMCHD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EMILIN2_SMCHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSMCHD1C1834671FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B1CTD_human;UNIPROT