Fusion Gene Studies
in Kim Lab

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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BLOC1S6-DYM (FusionGDB2 ID:HG26258TG54808)

Fusion Gene Summary for BLOC1S6-DYM

check button Fusion gene summary
Fusion gene informationFusion gene name: BLOC1S6-DYM
Fusion gene ID: hg26258tg54808
HgeneTgene
Gene symbol

BLOC1S6

DYM

Gene ID

26258

54808

Gene namebiogenesis of lysosomal organelles complex 1 subunit 6dymeclin
SynonymsBLOS6|HPS9|PA|PALLID|PLDNDMC|SMC
Cytomap('BLOC1S6')('DYM')

15q21.1

18q21.1

Type of geneprotein-codingprotein-coding
Descriptionbiogenesis of lysosome-related organelles complex 1 subunit 6BLOC-1 subunit 6BLOC-1 subunit pallidinbiogenesis of lysosomal organelles complex-1, subunit 5, pallidinbiogenesis of lysosomal organelles complex-1, subunit 6, pallidinpallid protein homoldymeclindyggve-Melchior-Clausen syndrome protein
Modification date2020032720200313
UniProtAcc.

Q7RTS9

Ensembl transtripts involved in fusion geneENST00000220531, ENST00000565323, 
ENST00000566753, ENST00000564765, 
ENST00000565409, ENST00000568816, 
ENST00000562384, ENST00000565216, 
ENST00000567461, ENST00000567740, 
Fusion gene scores* DoF score4 X 3 X 3=3619 X 11 X 13=2717
# samples 524
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(24/2717*10)=-3.50090825461346
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BLOC1S6 [Title/Abstract] AND DYM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBLOC1S6(45884474)-DYM(46918015), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneBLOC1S6

GO:0032402

melanosome transport

17182842

HgeneBLOC1S6

GO:0035646

endosome to melanosome transport

17182842

HgeneBLOC1S6

GO:0050942

positive regulation of pigment cell differentiation

17182842


check buttonFusion gene breakpoints across BLOC1S6 (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 DYM (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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


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Fusion Gene ORF analysis for BLOC1S6-DYM

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

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
ENST00000220531ENST00000442713BLOC1S6chr1545884474+DYMchr1846918015-0.0006350720.9993649
ENST00000220531ENST00000269445BLOC1S6chr1545884474+DYMchr1846918015-0.0008632480.99913675
ENST00000566753ENST00000442713BLOC1S6chr1545884474+DYMchr1846918015-0.0005106460.9994893
ENST00000566753ENST00000269445BLOC1S6chr1545884474+DYMchr1846918015-0.0007515310.99924845
ENST00000565323ENST00000442713BLOC1S6chr1545884474+DYMchr1846918015-0.0006853290.99931467
ENST00000565323ENST00000269445BLOC1S6chr1545884474+DYMchr1846918015-0.0015567320.9984433

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Fusion Genomic Features for BLOC1S6-DYM


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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Fusion Protein Features for BLOC1S6-DYM


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/chr15:45884474/chr18:46918015)
- 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
.DYM

Q7RTS9

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBLOC1S6chr15:45884474chr18:46918015ENST00000220531+2563_16774173.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for BLOC1S6-DYM


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>9833_9833_1_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000220531_DYM_chr18_46918015_ENST00000269445_length(transcript)=2650nt_BP=545nt
ACCCACCCCGTGAGCAGCCCAAACCGACCACCGTCCTCCCCCAGCTCCCACCAATCGGATCGCAGGGACTCGAGCCCCACACTGCTGAGT
CCGCTGACACTGCGTCCGGGGCCAGACGACGATATCAGCGCGGGGTCCCCACAACGCCATGGGGCAGAGCCAACTCTCGAGCGCGTGATC
GAAGCCCGCAGTTTTTTCGCCCCCGTCACTTCCGGGTGCGACAATCTCTTCTGTCCGGCCAGCCGCTGGAGTCGTTAGGTGCCGCCTTGC
TTCTGACGAGCCACACGTTTGCTTCTTCCCTGTGTTCCCAGCTGGAGGGACATGAGTGTCCCTGGGCCGTCGTCTCCGGACGGGGCCCTG
ACACGGCCACCCTACTGCCTGGAGGCCGGGGAGCCGACGCCTGGTTTAAGTGACACTTCTCCAGATGAAGGGTTAATAGAGGACTTGACT
ATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTTCTCATTATTTGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAA
CTCACTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAGTCTGCAGGTCATTAGTTGAAAACAATCCTCGAACAGGAAATCTTGGT
GCACTAATTAAGGTCTTCCTTTCTAGAACCAAAGAACTAAAACTTTCAGCAGAATGTCAGAACCACATCTTCATTTGGCAGACACACAAT
GCTTTGTTTATTATTTGCTGTTTGCTGAAAGTGTTCATCTGTCAGATGTCAGAGGAGGAATTACAACTTCATTTTACTTATGAAGAAAAA
TCTCCTGGCAATTACAGTTCTGACTCAGAAGATCTTTTGGAAGAATTGCTGTGCTGTTTGATGCAGTTGATCACTGATATTCCACTCTTA
GATATTACATATGAAATATCAGTAGAAGCTATATCAACAATGGTTGTTTTCCTTTCCTGCCAACTCTTCCACAAAGAAGTTTTGCGACAG
AGCATCAGCCACAAGTATTTGATGCGAGGTCCATGTCTTCCATACACCAGCAAACTTGTGAAGACCTTATTATATAACTTTATCAGACAA
GAAAAGCCACCTCCTCCAGGGGCCCATGTTTTCCCTCAGCAGTCGGATGGGGGAGGACTGCTTTATGGACTTGCATCAGGAGTAGCAACA
GGACTCTGGACTGTCTTCACACTAGGTGGTGTGGGCAGCAAAGCGGCTGCCTCTCCAGAGCTTTCTTCCCCTCTGGCCAACCAGAGTCTC
CTGCTTCTGCTGGTGTTGGCCAATCTGACAGATGCCTCAGATGCGCCAAACCCCTACAGACAAGCCATTATGTCCTTCAAGAACACACAA
GATAGCAGTCCTTTCCCCTCATCAATTCCACATGCCTTCCAGATCAACTTTAATAGTTTGTACACAGCTCTTTGTGAACAGCAGACATCT
GATCAAGCAACTCTCCTCTTGTATACCTTGCTCCATCAAAATAGTAATATTAGAACATACATGTTGGCTCGCACAGATATGGAAAATCTT
GTTTTACCAATTCTTGAGATTCTGTATCATGTTGAAGAAAGGAATTCACACCATGTGTATATGGCCCTTATAATATTGTTGATCCTTACG
GAAGATGATGGCTTCAACAGATCCATTCATGAAGTGATACTAAAAAATATTACTTGGTATTCAGAACGAGTTTTAACTGAAATCTCCTTG
GGGAGTCTCCTGATCCTGGTGGTAATAAGAACCATTCAATACAACATGACTAGGACACGAGACAAGTACCTTCACACAAATTGTTTGGCA
GCTTTAGCAAATATGTCGGCACAGTTTCGTTCTCTCCATCAGTATGCTGCCCAGAGGATCATCAGTTTATTTTCTTTGCTGTCTAAAAAA
CACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGAGAGGTTCGCTGAGTTCTAATGATGTTCCTCTACCAGATTATGCACAAGACCTA
AATGTCATTGAAGAAGTGATTCGAATGATGTTAGAGATCATCAACTCCTGCCTGACAAATTCCCTTCACCACAACCCAAACTTGGTATAC
GCCCTGCTTTACAAACGCGATCTCTTTGAACAATTTCGAACTCATCCTTCATTTCAGGATATAATGCAAAATATTGATCTGGTGATCTCC
TTCTTTAGCTCAAGGTTGCTGCAAGCTGGAGCTGAGCTGTCAGTGGAACGGGTCCTGGAAATCATTAAGCAAGGCGTCGTTGCGCTGCCC
AAAGACAGACTGAAGAAATTTCCAGAATTGAAATTCAAATATGTGGAAGAGGAGCAGCCCGAGGAGTTTTTTATCCCCTATGTCTGGTCT
CTTGTCTACAACTCAGCAGTCGGCCTGTACTGGAATCCACAGGACATCCAGCTGTTCACCATGGATTCCGACTGAGGGCAGGATGCTCTC
CCACCCGGACCCCTCCAGCCAAGCAGCCCTTCAAGTTCTTTTATTTCTGGGTAACAGAAGTAGACAGACAGGTTACTTGGTGTATCTTCT
GTTAAAGAGGATTGCACGAGTGTGTTTTCCTCACACACTTTGATTTGGAGAATTGGTGCTAGTTGGCAATAGATAACTCAGCGTAGATAG

>9833_9833_1_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000220531_DYM_chr18_46918015_ENST00000269445_length(amino acids)=708AA_BP=72
MLLPCVPSWRDMSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTSELK
LLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYS
SDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPP
GAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFP
SSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFN
RSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLE
QATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRL

--------------------------------------------------------------
>9833_9833_2_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000220531_DYM_chr18_46918015_ENST00000442713_length(transcript)=2231nt_BP=545nt
ACCCACCCCGTGAGCAGCCCAAACCGACCACCGTCCTCCCCCAGCTCCCACCAATCGGATCGCAGGGACTCGAGCCCCACACTGCTGAGT
CCGCTGACACTGCGTCCGGGGCCAGACGACGATATCAGCGCGGGGTCCCCACAACGCCATGGGGCAGAGCCAACTCTCGAGCGCGTGATC
GAAGCCCGCAGTTTTTTCGCCCCCGTCACTTCCGGGTGCGACAATCTCTTCTGTCCGGCCAGCCGCTGGAGTCGTTAGGTGCCGCCTTGC
TTCTGACGAGCCACACGTTTGCTTCTTCCCTGTGTTCCCAGCTGGAGGGACATGAGTGTCCCTGGGCCGTCGTCTCCGGACGGGGCCCTG
ACACGGCCACCCTACTGCCTGGAGGCCGGGGAGCCGACGCCTGGTTTAAGTGACACTTCTCCAGATGAAGGGTTAATAGAGGACTTGACT
ATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTTCTCATTATTTGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAA
CTCACTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAGTCTGCAGGTCATTAGCAGGACTCTGGACTGTCTTCACACTAGGTGGT
GTGGGCAGCAAAGCGGCTGCCTCTCCAGAGCTTTCTTCCCCTCTGGCCAACCAGAGTCTCCTGCTTCTGCTGGTGTTGGCCAATCTGACA
GATGCCTCAGATGCGCCAAACCCCTACAGACAAGCCATTATGTCCTTCAAGAACACACAAGATAGCAGTCCTTTCCCCTCATCAATTCCA
CATGCCTTCCAGATCAACTTTAATAGTTTGTACACAGCTCTTTGTGAACAGCAGACATCTGATCAAGCAACTCTCCTCTTGTATACCTTG
CTCCATCAAAATAGTAATATTAGAACATACATGTTGGCTCGCACAGATATGGAAAATCTTGTTTTACCAATTCTTGAGATTCTGTATCAT
GTTGAAGAAAGGAATTCACACCATGTGTATATGGCCCTTATAATATTGTTGATCCTTACGGAAGATGATGGCTTCAACAGATCCATTCAT
GAAGTGATACTAAAAAATATTACTTGGTATTCAGAACGAGTTTTAACTGAAATCTCCTTGGGGAGTCTCCTGATCCTGGTGGTAATAAGA
ACCATTCAATACAACATGACTAGGACACGAGACAAGTACCTTCACACAAATTGTTTGGCAGCTTTAGCAAATATGTCGGCACAGTTTCGT
TCTCTCCATCAGTATGCTGCCCAGAGGATCATCAGTTTATTTTCTTTGCTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAG
TCCTTGAGAGGTTCGCTGAGTTCTAATGATGTTCCTCTACCAGATTATGCACAAGACCTAAATGTCATTGAAGAAGTGATTCGAATGATG
TTAGAGATCATCAACTCCTGCCTGACAAATTCCCTTCACCACAACCCAAACTTGGTATACGCCCTGCTTTACAAACGCGATCTCTTTGAA
CAATTTCGAACTCATCCTTCATTTCAGGATATAATGCAAAATATTGATCTGGTGATCTCCTTCTTTAGCTCAAGGTTGCTGCAAGCTGGA
GCTGAGCTGTCAGTGGAACGGGTCCTGGAAATCATTAAGCAAGGCGTCGTTGCGCTGCCCAAAGACAGACTGAAGAAATTTCCAGAATTG
AAATTCAAATATGTGGAAGAGGAGCAGCCCGAGGAGTTTTTTATCCCCTATGTCTGGTCTCTTGTCTACAACTCAGCAGTCGGCCTGTAC
TGGAATCCACAGGACATCCAGCTGTTCACCATGGATTCCGACTGAGGGCAGGATGCTCTCCCACCCGGACCCCTCCAGCCAAGCAGCCCT
TCAAGTTCTTTTATTTCTGGGTAACAGAAGTAGACAGACAGGTTACTTGGTGTATCTTCTGTTAAAGAGGATTGCACGAGTGTGTTTTCC
TCACACACTTTGATTTGGAGAATTGGTGCTAGTTGGCAATAGATAACTCAGCGTAGATAGTATTGCAAAAAGGGGAGGAAATACACAACA
ATAATAAATGTAAAAACCTGCTATTCAACATGCAGTTTTATTTCGAAGCCAAAAATCTAGAGCTTTCCCAAGATCCTGTTGCCTTAGGCA

>9833_9833_2_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000220531_DYM_chr18_46918015_ENST00000442713_length(amino acids)=518AA_BP=72
MLLPCVPSWRDMSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTSELK
LLEEATISVCRSLAGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQIN
FNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKN
ITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSL
SSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVE

--------------------------------------------------------------
>9833_9833_3_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000565323_DYM_chr18_46918015_ENST00000269445_length(transcript)=2427nt_BP=322nt
AAGCGGTTTTTGGCGGCTGCGGCCCCCGGGCCCTGCCCCGAGTGCAGAAATGGGGAACCGCGCCGGCCCCTCTGCCCAGCGCAATGGGCG
GAACTGAAGTCCCGAGGGGAAGCTTTGTATTGGGGGTGCAATTGAAGGCGGTTGATGGTGAAGCCATTCTGAGTTTATGTGTTGACTCCG
GTTTAAGTGACACTTCTCCAGATGAAGGGTTAATAGAGGACTTGACTATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTT
CTCATTATTTGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAACTCACTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAG
TCTGCAGGTCATTAGTTGAAAACAATCCTCGAACAGGAAATCTTGGTGCACTAATTAAGGTCTTCCTTTCTAGAACCAAAGAACTAAAAC
TTTCAGCAGAATGTCAGAACCACATCTTCATTTGGCAGACACACAATGCTTTGTTTATTATTTGCTGTTTGCTGAAAGTGTTCATCTGTC
AGATGTCAGAGGAGGAATTACAACTTCATTTTACTTATGAAGAAAAATCTCCTGGCAATTACAGTTCTGACTCAGAAGATCTTTTGGAAG
AATTGCTGTGCTGTTTGATGCAGTTGATCACTGATATTCCACTCTTAGATATTACATATGAAATATCAGTAGAAGCTATATCAACAATGG
TTGTTTTCCTTTCCTGCCAACTCTTCCACAAAGAAGTTTTGCGACAGAGCATCAGCCACAAGTATTTGATGCGAGGTCCATGTCTTCCAT
ACACCAGCAAACTTGTGAAGACCTTATTATATAACTTTATCAGACAAGAAAAGCCACCTCCTCCAGGGGCCCATGTTTTCCCTCAGCAGT
CGGATGGGGGAGGACTGCTTTATGGACTTGCATCAGGAGTAGCAACAGGACTCTGGACTGTCTTCACACTAGGTGGTGTGGGCAGCAAAG
CGGCTGCCTCTCCAGAGCTTTCTTCCCCTCTGGCCAACCAGAGTCTCCTGCTTCTGCTGGTGTTGGCCAATCTGACAGATGCCTCAGATG
CGCCAAACCCCTACAGACAAGCCATTATGTCCTTCAAGAACACACAAGATAGCAGTCCTTTCCCCTCATCAATTCCACATGCCTTCCAGA
TCAACTTTAATAGTTTGTACACAGCTCTTTGTGAACAGCAGACATCTGATCAAGCAACTCTCCTCTTGTATACCTTGCTCCATCAAAATA
GTAATATTAGAACATACATGTTGGCTCGCACAGATATGGAAAATCTTGTTTTACCAATTCTTGAGATTCTGTATCATGTTGAAGAAAGGA
ATTCACACCATGTGTATATGGCCCTTATAATATTGTTGATCCTTACGGAAGATGATGGCTTCAACAGATCCATTCATGAAGTGATACTAA
AAAATATTACTTGGTATTCAGAACGAGTTTTAACTGAAATCTCCTTGGGGAGTCTCCTGATCCTGGTGGTAATAAGAACCATTCAATACA
ACATGACTAGGACACGAGACAAGTACCTTCACACAAATTGTTTGGCAGCTTTAGCAAATATGTCGGCACAGTTTCGTTCTCTCCATCAGT
ATGCTGCCCAGAGGATCATCAGTTTATTTTCTTTGCTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGAGAGGTT
CGCTGAGTTCTAATGATGTTCCTCTACCAGATTATGCACAAGACCTAAATGTCATTGAAGAAGTGATTCGAATGATGTTAGAGATCATCA
ACTCCTGCCTGACAAATTCCCTTCACCACAACCCAAACTTGGTATACGCCCTGCTTTACAAACGCGATCTCTTTGAACAATTTCGAACTC
ATCCTTCATTTCAGGATATAATGCAAAATATTGATCTGGTGATCTCCTTCTTTAGCTCAAGGTTGCTGCAAGCTGGAGCTGAGCTGTCAG
TGGAACGGGTCCTGGAAATCATTAAGCAAGGCGTCGTTGCGCTGCCCAAAGACAGACTGAAGAAATTTCCAGAATTGAAATTCAAATATG
TGGAAGAGGAGCAGCCCGAGGAGTTTTTTATCCCCTATGTCTGGTCTCTTGTCTACAACTCAGCAGTCGGCCTGTACTGGAATCCACAGG
ACATCCAGCTGTTCACCATGGATTCCGACTGAGGGCAGGATGCTCTCCCACCCGGACCCCTCCAGCCAAGCAGCCCTTCAAGTTCTTTTA
TTTCTGGGTAACAGAAGTAGACAGACAGGTTACTTGGTGTATCTTCTGTTAAAGAGGATTGCACGAGTGTGTTTTCCTCACACACTTTGA

>9833_9833_3_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000565323_DYM_chr18_46918015_ENST00000269445_length(amino acids)=719AA_BP=83
MPRVQKWGTAPAPLPSAMGGTEVPRGSFVLGVQLKAVDGEAILSLCVDSGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSK
QALQELTSELKLLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHF
TYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLY
NFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMS
FKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALII
LLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFS
LLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNI

--------------------------------------------------------------
>9833_9833_4_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000565323_DYM_chr18_46918015_ENST00000442713_length(transcript)=2008nt_BP=322nt
AAGCGGTTTTTGGCGGCTGCGGCCCCCGGGCCCTGCCCCGAGTGCAGAAATGGGGAACCGCGCCGGCCCCTCTGCCCAGCGCAATGGGCG
GAACTGAAGTCCCGAGGGGAAGCTTTGTATTGGGGGTGCAATTGAAGGCGGTTGATGGTGAAGCCATTCTGAGTTTATGTGTTGACTCCG
GTTTAAGTGACACTTCTCCAGATGAAGGGTTAATAGAGGACTTGACTATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTT
CTCATTATTTGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAACTCACTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAG
TCTGCAGGTCATTAGCAGGACTCTGGACTGTCTTCACACTAGGTGGTGTGGGCAGCAAAGCGGCTGCCTCTCCAGAGCTTTCTTCCCCTC
TGGCCAACCAGAGTCTCCTGCTTCTGCTGGTGTTGGCCAATCTGACAGATGCCTCAGATGCGCCAAACCCCTACAGACAAGCCATTATGT
CCTTCAAGAACACACAAGATAGCAGTCCTTTCCCCTCATCAATTCCACATGCCTTCCAGATCAACTTTAATAGTTTGTACACAGCTCTTT
GTGAACAGCAGACATCTGATCAAGCAACTCTCCTCTTGTATACCTTGCTCCATCAAAATAGTAATATTAGAACATACATGTTGGCTCGCA
CAGATATGGAAAATCTTGTTTTACCAATTCTTGAGATTCTGTATCATGTTGAAGAAAGGAATTCACACCATGTGTATATGGCCCTTATAA
TATTGTTGATCCTTACGGAAGATGATGGCTTCAACAGATCCATTCATGAAGTGATACTAAAAAATATTACTTGGTATTCAGAACGAGTTT
TAACTGAAATCTCCTTGGGGAGTCTCCTGATCCTGGTGGTAATAAGAACCATTCAATACAACATGACTAGGACACGAGACAAGTACCTTC
ACACAAATTGTTTGGCAGCTTTAGCAAATATGTCGGCACAGTTTCGTTCTCTCCATCAGTATGCTGCCCAGAGGATCATCAGTTTATTTT
CTTTGCTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGAGAGGTTCGCTGAGTTCTAATGATGTTCCTCTACCAG
ATTATGCACAAGACCTAAATGTCATTGAAGAAGTGATTCGAATGATGTTAGAGATCATCAACTCCTGCCTGACAAATTCCCTTCACCACA
ACCCAAACTTGGTATACGCCCTGCTTTACAAACGCGATCTCTTTGAACAATTTCGAACTCATCCTTCATTTCAGGATATAATGCAAAATA
TTGATCTGGTGATCTCCTTCTTTAGCTCAAGGTTGCTGCAAGCTGGAGCTGAGCTGTCAGTGGAACGGGTCCTGGAAATCATTAAGCAAG
GCGTCGTTGCGCTGCCCAAAGACAGACTGAAGAAATTTCCAGAATTGAAATTCAAATATGTGGAAGAGGAGCAGCCCGAGGAGTTTTTTA
TCCCCTATGTCTGGTCTCTTGTCTACAACTCAGCAGTCGGCCTGTACTGGAATCCACAGGACATCCAGCTGTTCACCATGGATTCCGACT
GAGGGCAGGATGCTCTCCCACCCGGACCCCTCCAGCCAAGCAGCCCTTCAAGTTCTTTTATTTCTGGGTAACAGAAGTAGACAGACAGGT
TACTTGGTGTATCTTCTGTTAAAGAGGATTGCACGAGTGTGTTTTCCTCACACACTTTGATTTGGAGAATTGGTGCTAGTTGGCAATAGA
TAACTCAGCGTAGATAGTATTGCAAAAAGGGGAGGAAATACACAACAATAATAAATGTAAAAACCTGCTATTCAACATGCAGTTTTATTT
CGAAGCCAAAAATCTAGAGCTTTCCCAAGATCCTGTTGCCTTAGGCACATCACACTTCAACAGTGCACACTATCCAACAGTGCACACTAT

>9833_9833_4_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000565323_DYM_chr18_46918015_ENST00000442713_length(amino acids)=529AA_BP=83
MPRVQKWGTAPAPLPSAMGGTEVPRGSFVLGVQLKAVDGEAILSLCVDSGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSK
QALQELTSELKLLEEATISVCRSLAGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPF
PSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGF
NRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVL
EQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSR

--------------------------------------------------------------
>9833_9833_5_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000566753_DYM_chr18_46918015_ENST00000269445_length(transcript)=2418nt_BP=313nt
GTCCGGCCAGCCGCTGGAGTCGTTAGGTGCCGCCTTGCTTCTGACGAGCCACACGTTTGCTTCTTCCCTGTGTTCCCAGCTGGAGGGACA
TGAGTGTCCCTGGGCCGTCGTCTCCGGACGGGGCCCTGACACGGCCACCCTACTGCCTGGAGGCCGGGGAGCCGACGCCTGGTTTAAGTG
ACACTTCTCCAGATGAAGGGTTAATAGAGGACTTGACTATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTTCTCATTATT
TGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAACTCACTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAGTCTGCAGGT
CATTAGTTGAAAACAATCCTCGAACAGGAAATCTTGGTGCACTAATTAAGGTCTTCCTTTCTAGAACCAAAGAACTAAAACTTTCAGCAG
AATGTCAGAACCACATCTTCATTTGGCAGACACACAATGCTTTGTTTATTATTTGCTGTTTGCTGAAAGTGTTCATCTGTCAGATGTCAG
AGGAGGAATTACAACTTCATTTTACTTATGAAGAAAAATCTCCTGGCAATTACAGTTCTGACTCAGAAGATCTTTTGGAAGAATTGCTGT
GCTGTTTGATGCAGTTGATCACTGATATTCCACTCTTAGATATTACATATGAAATATCAGTAGAAGCTATATCAACAATGGTTGTTTTCC
TTTCCTGCCAACTCTTCCACAAAGAAGTTTTGCGACAGAGCATCAGCCACAAGTATTTGATGCGAGGTCCATGTCTTCCATACACCAGCA
AACTTGTGAAGACCTTATTATATAACTTTATCAGACAAGAAAAGCCACCTCCTCCAGGGGCCCATGTTTTCCCTCAGCAGTCGGATGGGG
GAGGACTGCTTTATGGACTTGCATCAGGAGTAGCAACAGGACTCTGGACTGTCTTCACACTAGGTGGTGTGGGCAGCAAAGCGGCTGCCT
CTCCAGAGCTTTCTTCCCCTCTGGCCAACCAGAGTCTCCTGCTTCTGCTGGTGTTGGCCAATCTGACAGATGCCTCAGATGCGCCAAACC
CCTACAGACAAGCCATTATGTCCTTCAAGAACACACAAGATAGCAGTCCTTTCCCCTCATCAATTCCACATGCCTTCCAGATCAACTTTA
ATAGTTTGTACACAGCTCTTTGTGAACAGCAGACATCTGATCAAGCAACTCTCCTCTTGTATACCTTGCTCCATCAAAATAGTAATATTA
GAACATACATGTTGGCTCGCACAGATATGGAAAATCTTGTTTTACCAATTCTTGAGATTCTGTATCATGTTGAAGAAAGGAATTCACACC
ATGTGTATATGGCCCTTATAATATTGTTGATCCTTACGGAAGATGATGGCTTCAACAGATCCATTCATGAAGTGATACTAAAAAATATTA
CTTGGTATTCAGAACGAGTTTTAACTGAAATCTCCTTGGGGAGTCTCCTGATCCTGGTGGTAATAAGAACCATTCAATACAACATGACTA
GGACACGAGACAAGTACCTTCACACAAATTGTTTGGCAGCTTTAGCAAATATGTCGGCACAGTTTCGTTCTCTCCATCAGTATGCTGCCC
AGAGGATCATCAGTTTATTTTCTTTGCTGTCTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGAGAGGTTCGCTGAGTT
CTAATGATGTTCCTCTACCAGATTATGCACAAGACCTAAATGTCATTGAAGAAGTGATTCGAATGATGTTAGAGATCATCAACTCCTGCC
TGACAAATTCCCTTCACCACAACCCAAACTTGGTATACGCCCTGCTTTACAAACGCGATCTCTTTGAACAATTTCGAACTCATCCTTCAT
TTCAGGATATAATGCAAAATATTGATCTGGTGATCTCCTTCTTTAGCTCAAGGTTGCTGCAAGCTGGAGCTGAGCTGTCAGTGGAACGGG
TCCTGGAAATCATTAAGCAAGGCGTCGTTGCGCTGCCCAAAGACAGACTGAAGAAATTTCCAGAATTGAAATTCAAATATGTGGAAGAGG
AGCAGCCCGAGGAGTTTTTTATCCCCTATGTCTGGTCTCTTGTCTACAACTCAGCAGTCGGCCTGTACTGGAATCCACAGGACATCCAGC
TGTTCACCATGGATTCCGACTGAGGGCAGGATGCTCTCCCACCCGGACCCCTCCAGCCAAGCAGCCCTTCAAGTTCTTTTATTTCTGGGT
AACAGAAGTAGACAGACAGGTTACTTGGTGTATCTTCTGTTAAAGAGGATTGCACGAGTGTGTTTTCCTCACACACTTTGATTTGGAGAA

>9833_9833_5_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000566753_DYM_chr18_46918015_ENST00000269445_length(amino acids)=708AA_BP=72
MLLPCVPSWRDMSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTSELK
LLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYS
SDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPP
GAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFP
SSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFN
RSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLE
QATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRL

--------------------------------------------------------------
>9833_9833_6_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000566753_DYM_chr18_46918015_ENST00000442713_length(transcript)=1999nt_BP=313nt
GTCCGGCCAGCCGCTGGAGTCGTTAGGTGCCGCCTTGCTTCTGACGAGCCACACGTTTGCTTCTTCCCTGTGTTCCCAGCTGGAGGGACA
TGAGTGTCCCTGGGCCGTCGTCTCCGGACGGGGCCCTGACACGGCCACCCTACTGCCTGGAGGCCGGGGAGCCGACGCCTGGTTTAAGTG
ACACTTCTCCAGATGAAGGGTTAATAGAGGACTTGACTATAGAAGACAAAGCAGTGGAGCAACTGGCAGAAGGATTGCTTTCTCATTATT
TGCCAGATCTGCAGAGATCAAAACAAGCCCTCCAGGAACTCACTAGTGAGTTGAAACTCTTGGAGGAAGCAACCATTTCAGTCTGCAGGT
CATTAGCAGGACTCTGGACTGTCTTCACACTAGGTGGTGTGGGCAGCAAAGCGGCTGCCTCTCCAGAGCTTTCTTCCCCTCTGGCCAACC
AGAGTCTCCTGCTTCTGCTGGTGTTGGCCAATCTGACAGATGCCTCAGATGCGCCAAACCCCTACAGACAAGCCATTATGTCCTTCAAGA
ACACACAAGATAGCAGTCCTTTCCCCTCATCAATTCCACATGCCTTCCAGATCAACTTTAATAGTTTGTACACAGCTCTTTGTGAACAGC
AGACATCTGATCAAGCAACTCTCCTCTTGTATACCTTGCTCCATCAAAATAGTAATATTAGAACATACATGTTGGCTCGCACAGATATGG
AAAATCTTGTTTTACCAATTCTTGAGATTCTGTATCATGTTGAAGAAAGGAATTCACACCATGTGTATATGGCCCTTATAATATTGTTGA
TCCTTACGGAAGATGATGGCTTCAACAGATCCATTCATGAAGTGATACTAAAAAATATTACTTGGTATTCAGAACGAGTTTTAACTGAAA
TCTCCTTGGGGAGTCTCCTGATCCTGGTGGTAATAAGAACCATTCAATACAACATGACTAGGACACGAGACAAGTACCTTCACACAAATT
GTTTGGCAGCTTTAGCAAATATGTCGGCACAGTTTCGTTCTCTCCATCAGTATGCTGCCCAGAGGATCATCAGTTTATTTTCTTTGCTGT
CTAAAAAACACAACAAAGTTCTGGAACAAGCCACACAGTCCTTGAGAGGTTCGCTGAGTTCTAATGATGTTCCTCTACCAGATTATGCAC
AAGACCTAAATGTCATTGAAGAAGTGATTCGAATGATGTTAGAGATCATCAACTCCTGCCTGACAAATTCCCTTCACCACAACCCAAACT
TGGTATACGCCCTGCTTTACAAACGCGATCTCTTTGAACAATTTCGAACTCATCCTTCATTTCAGGATATAATGCAAAATATTGATCTGG
TGATCTCCTTCTTTAGCTCAAGGTTGCTGCAAGCTGGAGCTGAGCTGTCAGTGGAACGGGTCCTGGAAATCATTAAGCAAGGCGTCGTTG
CGCTGCCCAAAGACAGACTGAAGAAATTTCCAGAATTGAAATTCAAATATGTGGAAGAGGAGCAGCCCGAGGAGTTTTTTATCCCCTATG
TCTGGTCTCTTGTCTACAACTCAGCAGTCGGCCTGTACTGGAATCCACAGGACATCCAGCTGTTCACCATGGATTCCGACTGAGGGCAGG
ATGCTCTCCCACCCGGACCCCTCCAGCCAAGCAGCCCTTCAAGTTCTTTTATTTCTGGGTAACAGAAGTAGACAGACAGGTTACTTGGTG
TATCTTCTGTTAAAGAGGATTGCACGAGTGTGTTTTCCTCACACACTTTGATTTGGAGAATTGGTGCTAGTTGGCAATAGATAACTCAGC
GTAGATAGTATTGCAAAAAGGGGAGGAAATACACAACAATAATAAATGTAAAAACCTGCTATTCAACATGCAGTTTTATTTCGAAGCCAA
AAATCTAGAGCTTTCCCAAGATCCTGTTGCCTTAGGCACATCACACTTCAACAGTGCACACTATCCAACAGTGCACACTATTCAACAGTG

>9833_9833_6_BLOC1S6-DYM_BLOC1S6_chr15_45884474_ENST00000566753_DYM_chr18_46918015_ENST00000442713_length(amino acids)=518AA_BP=72
MLLPCVPSWRDMSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHYLPDLQRSKQALQELTSELK
LLEEATISVCRSLAGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQIN
FNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKN
ITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSL
SSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVE

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

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Fusion Gene PPI Analysis for BLOC1S6-DYM


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


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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Related Drugs for BLOC1S6-DYM


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for BLOC1S6-DYM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBLOC1S6C3280026HERMANSKY-PUDLAK SYNDROME 93GENOMICS_ENGLAND;ORPHANET
HgeneBLOC1S6C1844666Immune dysregulation1GENOMICS_ENGLAND
TgeneC0265286Dyggve-Melchior-Clausen syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3888088SMITH-MCCORT DYSPLASIA 14GENOMICS_ENGLAND;UNIPROT
TgeneC1846431SMITH-MCCORT DYSPLASIA2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0036341Schizophrenia1PSYGENET