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Fusion Protein:SMCHD1-DLGAP1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: SMCHD1-DLGAP1 | FusionPDB ID: 84026 | FusionGDB2.0 ID: 84026 | Hgene | Tgene | Gene symbol | SMCHD1 | DLGAP1 | Gene ID | 23347 | 9229 |
Gene name | structural maintenance of chromosomes flexible hinge domain containing 1 | DLG associated protein 1 | |
Synonyms | BAMS|FSHD2 | DAP-1|DAP-1-ALPHA|DAP-1-BETA|DAP1|DLGAP1A|DLGAP1B|GKAP|SAPAP1 | |
Cytomap | 18p11.32 | 18p11.31 | |
Type of gene | protein-coding | protein-coding | |
Description | structural maintenance of chromosomes flexible hinge domain-containing protein 1SMC hinge domain-containing protein 1 | disks large-associated protein 1PSD-95/SAP90 binding protein 1SAP90/PSD-95-associated protein 1discs large homolog associated protein 1guanylate kinase-associated protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | O14490 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000261598, 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 score | 6 X 9 X 6=324 | 31 X 20 X 8=4960 |
# samples | 11 | 32 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SMCHD1 | GO:0009048 | dosage compensation by inactivation of X chromosome | 23542155 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-HF-7136-01A | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000315677 | DLGAP1 | chr18 | 3742512 | - | 5891 | 976 | 314 | 2737 | 807 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000581527 | DLGAP1 | chr18 | 3742512 | - | 2802 | 976 | 314 | 2593 | 759 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000400147 | DLGAP1 | chr18 | 3742512 | - | 5891 | 976 | 314 | 2737 | 807 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000400149 | DLGAP1 | chr18 | 3742512 | - | 5837 | 976 | 314 | 2683 | 789 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000400155 | DLGAP1 | chr18 | 3742512 | - | 5891 | 976 | 314 | 2737 | 807 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000400150 | DLGAP1 | chr18 | 3742512 | - | 5921 | 976 | 314 | 2767 | 817 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000584874 | DLGAP1 | chr18 | 3742512 | - | 3084 | 976 | 314 | 2737 | 807 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000534970 | DLGAP1 | chr18 | 3742512 | - | 2972 | 976 | 314 | 2653 | 779 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000539435 | DLGAP1 | chr18 | 3742512 | - | 3036 | 976 | 314 | 2767 | 817 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000581699 | DLGAP1 | chr18 | 3742512 | - | 2919 | 976 | 314 | 2737 | 807 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000400145 | DLGAP1 | chr18 | 3742512 | - | 2884 | 976 | 314 | 2593 | 759 |
ENST00000320876 | SMCHD1 | chr18 | 2674144 | + | ENST00000515196 | DLGAP1 | chr18 | 3742512 | - | 2802 | 976 | 314 | 2593 | 759 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000315677 | DLGAP1 | chr18 | 3742512 | - | 5742 | 827 | 165 | 2588 | 807 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000581527 | DLGAP1 | chr18 | 3742512 | - | 2653 | 827 | 165 | 2444 | 759 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000400147 | DLGAP1 | chr18 | 3742512 | - | 5742 | 827 | 165 | 2588 | 807 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000400149 | DLGAP1 | chr18 | 3742512 | - | 5688 | 827 | 165 | 2534 | 789 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000400155 | DLGAP1 | chr18 | 3742512 | - | 5742 | 827 | 165 | 2588 | 807 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000400150 | DLGAP1 | chr18 | 3742512 | - | 5772 | 827 | 165 | 2618 | 817 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000584874 | DLGAP1 | chr18 | 3742512 | - | 2935 | 827 | 165 | 2588 | 807 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000534970 | DLGAP1 | chr18 | 3742512 | - | 2823 | 827 | 165 | 2504 | 779 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000539435 | DLGAP1 | chr18 | 3742512 | - | 2887 | 827 | 165 | 2618 | 817 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000581699 | DLGAP1 | chr18 | 3742512 | - | 2770 | 827 | 165 | 2588 | 807 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000400145 | DLGAP1 | chr18 | 3742512 | - | 2735 | 827 | 165 | 2444 | 759 |
ENST00000261598 | SMCHD1 | chr18 | 2674144 | + | ENST00000515196 | DLGAP1 | chr18 | 3742512 | - | 2653 | 827 | 165 | 2444 | 759 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000320876 | ENST00000315677 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000296473 | 0.99970347 |
ENST00000320876 | ENST00000581527 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.001177734 | 0.9988223 |
ENST00000320876 | ENST00000400147 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000296473 | 0.99970347 |
ENST00000320876 | ENST00000400149 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000261249 | 0.99973875 |
ENST00000320876 | ENST00000400155 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000296473 | 0.99970347 |
ENST00000320876 | ENST00000400150 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000264829 | 0.9997352 |
ENST00000320876 | ENST00000584874 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003068574 | 0.99693143 |
ENST00000320876 | ENST00000534970 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003465761 | 0.9965342 |
ENST00000320876 | ENST00000539435 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003020669 | 0.99697936 |
ENST00000320876 | ENST00000581699 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003388249 | 0.9966118 |
ENST00000320876 | ENST00000400145 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.001183547 | 0.9988165 |
ENST00000320876 | ENST00000515196 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.001177734 | 0.9988223 |
ENST00000261598 | ENST00000315677 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000302241 | 0.9996978 |
ENST00000261598 | ENST00000581527 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.001295531 | 0.99870443 |
ENST00000261598 | ENST00000400147 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000302241 | 0.9996978 |
ENST00000261598 | ENST00000400149 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.00026433 | 0.99973565 |
ENST00000261598 | ENST00000400155 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000302241 | 0.9996978 |
ENST00000261598 | ENST00000400150 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.000270186 | 0.9997298 |
ENST00000261598 | ENST00000584874 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003483809 | 0.9965162 |
ENST00000261598 | ENST00000534970 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.00404371 | 0.99595624 |
ENST00000261598 | ENST00000539435 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003471042 | 0.9965289 |
ENST00000261598 | ENST00000581699 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.003949208 | 0.9960508 |
ENST00000261598 | ENST00000400145 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.001307725 | 0.99869233 |
ENST00000261598 | ENST00000515196 | SMCHD1 | chr18 | 2674144 | + | DLGAP1 | chr18 | 3742512 | - | 0.001295531 | 0.99870443 |
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Fusion Amino Acid Sequences |
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>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 -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() 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. |
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Hgene | Tgene |
. | DLGAP1 |
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. |
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- 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 |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000315677 | 4 | 13 | 622_630 | 390.6666666666667 | 978.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000400145 | 1 | 9 | 622_630 | 88.66666666666667 | 628.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000400147 | 1 | 10 | 622_630 | 88.66666666666667 | 676.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000400155 | 1 | 10 | 622_630 | 96.66666666666667 | 684.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000515196 | 3 | 11 | 622_630 | 390.6666666666667 | 930.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000534970 | 1 | 10 | 622_630 | 102.66666666666667 | 662.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000539435 | 1 | 11 | 622_630 | 88.66666666666667 | 686.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000581527 | 4 | 12 | 622_630 | 390.6666666666667 | 930.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000581699 | 1 | 10 | 622_630 | 96.66666666666667 | 684.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000584874 | 1 | 10 | 622_630 | 390.6666666666667 | 978.0 | Compositional bias | Note=Poly-Thr | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000315677 | 4 | 13 | 975_977 | 390.6666666666667 | 978.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000400145 | 1 | 9 | 975_977 | 88.66666666666667 | 628.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000400147 | 1 | 10 | 975_977 | 88.66666666666667 | 676.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000400155 | 1 | 10 | 975_977 | 96.66666666666667 | 684.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000515196 | 3 | 11 | 975_977 | 390.6666666666667 | 930.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000534970 | 1 | 10 | 975_977 | 102.66666666666667 | 662.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000539435 | 1 | 11 | 975_977 | 88.66666666666667 | 686.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000581527 | 4 | 12 | 975_977 | 390.6666666666667 | 930.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000581699 | 1 | 10 | 975_977 | 96.66666666666667 | 684.0 | Motif | PDZ-binding | |
Tgene | DLGAP1 | chr18:2674144 | chr18:3742512 | ENST00000584874 | 1 | 10 | 975_977 | 390.6666666666667 | 978.0 | Motif | PDZ-binding |
- 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 | SMCHD1 | chr18:2674144 | chr18:3742512 | ENST00000261598 | + | 5 | 46 | 1720_1847 | 212.66666666666666 | 1918.0 | Domain | SMC hinge |
Hgene | SMCHD1 | chr18:2674144 | chr18:3742512 | ENST00000320876 | + | 5 | 48 | 1720_1847 | 212.66666666666666 | 2006.0 | Domain | SMC hinge |
Hgene | SMCHD1 | chr18:2674144 | chr18:3742512 | ENST00000261598 | + | 5 | 46 | 111_702 | 212.66666666666666 | 1918.0 | Region | ATPase activity domain |
Hgene | SMCHD1 | chr18:2674144 | chr18:3742512 | ENST00000320876 | + | 5 | 48 | 111_702 | 212.66666666666666 | 2006.0 | Region | ATPase activity domain |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
SMCHD1 | |
DLGAP1 |
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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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Related Drugs to SMCHD1-DLGAP1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to SMCHD1-DLGAP1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |