UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:SMCHD1-DLGAP1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SMCHD1-DLGAP1
FusionPDB ID: 84026
FusionGDB2.0 ID: 84026
HgeneTgene
Gene symbol

SMCHD1

DLGAP1

Gene ID

23347

9229

Gene namestructural maintenance of chromosomes flexible hinge domain containing 1DLG associated protein 1
SynonymsBAMS|FSHD2DAP-1|DAP-1-ALPHA|DAP-1-BETA|DAP1|DLGAP1A|DLGAP1B|GKAP|SAPAP1
Cytomap

18p11.32

18p11.31

Type of geneprotein-codingprotein-coding
Descriptionstructural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1disks large-associated protein 1PSD-95/SAP90 binding protein 1SAP90/PSD-95-associated protein 1discs large homolog associated protein 1guanylate kinase-associated protein
Modification date2020031320200313
UniProtAcc.

O14490

Ensembl transtripts involved in fusion geneENST idsENST00000261598, ENST00000320876, 
ENST00000609587, 
ENST00000478161, 
ENST00000315677, ENST00000400145, 
ENST00000400147, ENST00000400149, 
ENST00000400150, ENST00000400155, 
ENST00000515196, ENST00000534970, 
ENST00000539435, ENST00000581527, 
ENST00000581699, ENST00000584874, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 9 X 6=32431 X 20 X 8=4960
# samples 1132
** MAII scorelog2(11/324*10)=-1.55849028935997
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(32/4960*10)=-3.95419631038688
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SMCHD1 [Title/Abstract] AND DLGAP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SMCHD1(2674144)-DLGAP1(3742512), # samples:1
Anticipated loss of major functional domain due to fusion event.SMCHD1-DLGAP1 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.
SMCHD1-DLGAP1 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.
SMCHD1-DLGAP1 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.
SMCHD1-DLGAP1 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSMCHD1

GO:0009048

dosage compensation by inactivation of X chromosome

23542155


check buttonFusion gene breakpoints across SMCHD1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across DLGAP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-HF-7136-01ASMCHD1chr18

2674144

+DLGAP1chr18

3742512

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000320876SMCHD1chr182674144+ENST00000315677DLGAP1chr183742512-58919763142737807
ENST00000320876SMCHD1chr182674144+ENST00000581527DLGAP1chr183742512-28029763142593759
ENST00000320876SMCHD1chr182674144+ENST00000400147DLGAP1chr183742512-58919763142737807
ENST00000320876SMCHD1chr182674144+ENST00000400149DLGAP1chr183742512-58379763142683789
ENST00000320876SMCHD1chr182674144+ENST00000400155DLGAP1chr183742512-58919763142737807
ENST00000320876SMCHD1chr182674144+ENST00000400150DLGAP1chr183742512-59219763142767817
ENST00000320876SMCHD1chr182674144+ENST00000584874DLGAP1chr183742512-30849763142737807
ENST00000320876SMCHD1chr182674144+ENST00000534970DLGAP1chr183742512-29729763142653779
ENST00000320876SMCHD1chr182674144+ENST00000539435DLGAP1chr183742512-30369763142767817
ENST00000320876SMCHD1chr182674144+ENST00000581699DLGAP1chr183742512-29199763142737807
ENST00000320876SMCHD1chr182674144+ENST00000400145DLGAP1chr183742512-28849763142593759
ENST00000320876SMCHD1chr182674144+ENST00000515196DLGAP1chr183742512-28029763142593759
ENST00000261598SMCHD1chr182674144+ENST00000315677DLGAP1chr183742512-57428271652588807
ENST00000261598SMCHD1chr182674144+ENST00000581527DLGAP1chr183742512-26538271652444759
ENST00000261598SMCHD1chr182674144+ENST00000400147DLGAP1chr183742512-57428271652588807
ENST00000261598SMCHD1chr182674144+ENST00000400149DLGAP1chr183742512-56888271652534789
ENST00000261598SMCHD1chr182674144+ENST00000400155DLGAP1chr183742512-57428271652588807
ENST00000261598SMCHD1chr182674144+ENST00000400150DLGAP1chr183742512-57728271652618817
ENST00000261598SMCHD1chr182674144+ENST00000584874DLGAP1chr183742512-29358271652588807
ENST00000261598SMCHD1chr182674144+ENST00000534970DLGAP1chr183742512-28238271652504779
ENST00000261598SMCHD1chr182674144+ENST00000539435DLGAP1chr183742512-28878271652618817
ENST00000261598SMCHD1chr182674144+ENST00000581699DLGAP1chr183742512-27708271652588807
ENST00000261598SMCHD1chr182674144+ENST00000400145DLGAP1chr183742512-27358271652444759
ENST00000261598SMCHD1chr182674144+ENST00000515196DLGAP1chr183742512-26538271652444759

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000320876ENST00000315677SMCHD1chr182674144+DLGAP1chr183742512-0.0002964730.99970347
ENST00000320876ENST00000581527SMCHD1chr182674144+DLGAP1chr183742512-0.0011777340.9988223
ENST00000320876ENST00000400147SMCHD1chr182674144+DLGAP1chr183742512-0.0002964730.99970347
ENST00000320876ENST00000400149SMCHD1chr182674144+DLGAP1chr183742512-0.0002612490.99973875
ENST00000320876ENST00000400155SMCHD1chr182674144+DLGAP1chr183742512-0.0002964730.99970347
ENST00000320876ENST00000400150SMCHD1chr182674144+DLGAP1chr183742512-0.0002648290.9997352
ENST00000320876ENST00000584874SMCHD1chr182674144+DLGAP1chr183742512-0.0030685740.99693143
ENST00000320876ENST00000534970SMCHD1chr182674144+DLGAP1chr183742512-0.0034657610.9965342
ENST00000320876ENST00000539435SMCHD1chr182674144+DLGAP1chr183742512-0.0030206690.99697936
ENST00000320876ENST00000581699SMCHD1chr182674144+DLGAP1chr183742512-0.0033882490.9966118
ENST00000320876ENST00000400145SMCHD1chr182674144+DLGAP1chr183742512-0.0011835470.9988165
ENST00000320876ENST00000515196SMCHD1chr182674144+DLGAP1chr183742512-0.0011777340.9988223
ENST00000261598ENST00000315677SMCHD1chr182674144+DLGAP1chr183742512-0.0003022410.9996978
ENST00000261598ENST00000581527SMCHD1chr182674144+DLGAP1chr183742512-0.0012955310.99870443
ENST00000261598ENST00000400147SMCHD1chr182674144+DLGAP1chr183742512-0.0003022410.9996978
ENST00000261598ENST00000400149SMCHD1chr182674144+DLGAP1chr183742512-0.000264330.99973565
ENST00000261598ENST00000400155SMCHD1chr182674144+DLGAP1chr183742512-0.0003022410.9996978
ENST00000261598ENST00000400150SMCHD1chr182674144+DLGAP1chr183742512-0.0002701860.9997298
ENST00000261598ENST00000584874SMCHD1chr182674144+DLGAP1chr183742512-0.0034838090.9965162
ENST00000261598ENST00000534970SMCHD1chr182674144+DLGAP1chr183742512-0.004043710.99595624
ENST00000261598ENST00000539435SMCHD1chr182674144+DLGAP1chr183742512-0.0034710420.9965289
ENST00000261598ENST00000581699SMCHD1chr182674144+DLGAP1chr183742512-0.0039492080.9960508
ENST00000261598ENST00000400145SMCHD1chr182674144+DLGAP1chr183742512-0.0013077250.99869233
ENST00000261598ENST00000515196SMCHD1chr182674144+DLGAP1chr183742512-0.0012955310.99870443

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>84026_84026_1_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000315677_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_2_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000400145_length(amino acids)=759AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_3_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000400147_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_4_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000400149_length(amino acids)=789AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
GVIKLSSAVEAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTED
RKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDNSCPGPMAR
QFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREE
RENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWKQMDPLDKK

--------------------------------------------------------------

>84026_84026_5_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000400150_length(amino acids)=817AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
GVIKLSSAVEVSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQI
HGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAV
QADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCH
RDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLS
IENISMKFDELHQLKANNWKQMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSATESAESIEIYI

--------------------------------------------------------------

>84026_84026_6_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000400155_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_7_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000515196_length(amino acids)=759AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_8_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000534970_length(amino acids)=779AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
AQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNR
CLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTST
VSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDIL
GKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWKQMDPLDKKERRAPPPVPK

--------------------------------------------------------------

>84026_84026_9_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000539435_length(amino acids)=817AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
GVIKLSSAVEVSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQI
HGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAV
QADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCH
RDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLS
IENISMKFDELHQLKANNWKQMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSATESAESIEIYI

--------------------------------------------------------------

>84026_84026_10_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000581527_length(amino acids)=759AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_11_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000581699_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_12_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000261598_DLGAP1_chr18_3742512_ENST00000584874_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_13_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000315677_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_14_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000400145_length(amino acids)=759AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_15_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000400147_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_16_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000400149_length(amino acids)=789AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
GVIKLSSAVEAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTED
RKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDNSCPGPMAR
QFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREE
RENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWKQMDPLDKK

--------------------------------------------------------------

>84026_84026_17_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000400150_length(amino acids)=817AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
GVIKLSSAVEVSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQI
HGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAV
QADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCH
RDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLS
IENISMKFDELHQLKANNWKQMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSATESAESIEIYI

--------------------------------------------------------------

>84026_84026_18_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000400155_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_19_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000515196_length(amino acids)=759AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_20_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000534970_length(amino acids)=779AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
AQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNR
CLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTST
VSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDIL
GKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDELHQLKANNWKQMDPLDKKERRAPPPVPK

--------------------------------------------------------------

>84026_84026_21_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000539435_length(amino acids)=817AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
GVIKLSSAVEVSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQI
HGPASQHMGNNTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAV
QADLDFHDNLENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCH
RDGHWFLKLLQAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLS
IENISMKFDELHQLKANNWKQMDPLDKKERRAPPPVPKKPAKGPAPLIRERSLESSQRQEARKRLMAAKRAASVRQNSATESAESIEIYI

--------------------------------------------------------------

>84026_84026_22_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000581527_length(amino acids)=759AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_23_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000581699_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

>84026_84026_24_SMCHD1-DLGAP1_SMCHD1_chr18_2674144_ENST00000320876_DLGAP1_chr18_3742512_ENST00000584874_length(amino acids)=807AA_BP=220
MSFLLFPNMAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEEKFVITTTSRKEI
TCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFD
ETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFERISNEHSPKLQIRSHSYLRAVSEVSINRSLDSLDPAGLLTSPKFRSRNES
YMRAMSTISQVSEMEVNGQFESVCESVFSELESQAVEALDLPMPGCFRMRSHSYVRAIEKGCSQDDECVSLRSSSPPRTTTTVRTIQSST
VSSCITTYKKTPPPVPPRTTTKPFISITAQSSTESAQDAYMDGQGQRGDIISQSGLSNSTESLDSMKALTAAIEAANAQIHGPASQHMGN
NTATVTTTTTIATVTTEDRKKDHFKKNRCLSIGIQVDDAEEPDKTGENKAPSKFQSVGVQVEEEKCFRRFTRSNSVTTAVQADLDFHDNL
ENSLESIEDNSCPGPMARQFSRDASTSTVSIQGSGNHYHACAADDDFDTDFDPSILPPPDPWIDSITEDPLEAVQRSVCHRDGHWFLKLL
QAERDRMEGWCQQMEREERENNLPEDILGKIRTAVGSAQLLMAQKFYQFRELCEENLNPNAHPRPTSQDLAGFWDMLQLSIENISMKFDE

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr18:2674144/chr18:3742512)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DLGAP1

O14490

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Part of the postsynaptic scaffold in neuronal cells.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000315677413622_630390.6666666666667978.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST0000040014519622_63088.66666666666667628.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000400147110622_63088.66666666666667676.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000400155110622_63096.66666666666667684.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000515196311622_630390.6666666666667930.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000534970110622_630102.66666666666667662.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000539435111622_63088.66666666666667686.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000581527412622_630390.6666666666667930.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000581699110622_63096.66666666666667684.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000584874110622_630390.6666666666667978.0Compositional biasNote=Poly-Thr
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000315677413975_977390.6666666666667978.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST0000040014519975_97788.66666666666667628.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000400147110975_97788.66666666666667676.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000400155110975_97796.66666666666667684.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000515196311975_977390.6666666666667930.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000534970110975_977102.66666666666667662.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000539435111975_97788.66666666666667686.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000581527412975_977390.6666666666667930.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000581699110975_97796.66666666666667684.0MotifPDZ-binding
TgeneDLGAP1chr18:2674144chr18:3742512ENST00000584874110975_977390.6666666666667978.0MotifPDZ-binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMCHD1chr18:2674144chr18:3742512ENST00000261598+5461720_1847212.666666666666661918.0DomainSMC hinge
HgeneSMCHD1chr18:2674144chr18:3742512ENST00000320876+5481720_1847212.666666666666662006.0DomainSMC hinge
HgeneSMCHD1chr18:2674144chr18:3742512ENST00000261598+546111_702212.666666666666661918.0RegionATPase activity domain
HgeneSMCHD1chr18:2674144chr18:3742512ENST00000320876+548111_702212.666666666666662006.0RegionATPase activity domain


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SMCHD1
DLGAP1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to SMCHD1-DLGAP1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to SMCHD1-DLGAP1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource