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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BLOC1S6-DYM (FusionGDB2 ID:HG26258TG54808) |
Fusion Gene Summary for BLOC1S6-DYM |
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Fusion gene information | Fusion gene name: BLOC1S6-DYM | Fusion gene ID: hg26258tg54808 | Hgene | Tgene | Gene symbol | BLOC1S6 | DYM | Gene ID | 26258 | 54808 |
Gene name | biogenesis of lysosomal organelles complex 1 subunit 6 | dymeclin | |
Synonyms | BLOS6|HPS9|PA|PALLID|PLDN | DMC|SMC | |
Cytomap | ('BLOC1S6')('DYM') 15q21.1 | 18q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | biogenesis 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 homol | dymeclindyggve-Melchior-Clausen syndrome protein | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | . | Q7RTS9 | |
Ensembl transtripts involved in fusion gene | ENST00000220531, ENST00000565323, ENST00000566753, ENST00000564765, ENST00000565409, ENST00000568816, ENST00000562384, ENST00000565216, ENST00000567461, ENST00000567740, | ||
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 19 X 11 X 13=2717 |
# samples | 5 | 24 | |
** MAII score | log2(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 breakpoint | BLOC1S6(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BLOC1S6 | GO:0032402 | melanosome transport | 17182842 |
Hgene | BLOC1S6 | GO:0035646 | endosome to melanosome transport | 17182842 |
Hgene | BLOC1S6 | GO:0050942 | positive regulation of pigment cell differentiation | 17182842 |
![]() * 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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![]() * 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 |
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Fusion Gene ORF analysis for BLOC1S6-DYM |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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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) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000220531 | ENST00000442713 | BLOC1S6 | chr15 | 45884474 | + | DYM | chr18 | 46918015 | - | 0.000635072 | 0.9993649 |
ENST00000220531 | ENST00000269445 | BLOC1S6 | chr15 | 45884474 | + | DYM | chr18 | 46918015 | - | 0.000863248 | 0.99913675 |
ENST00000566753 | ENST00000442713 | BLOC1S6 | chr15 | 45884474 | + | DYM | chr18 | 46918015 | - | 0.000510646 | 0.9994893 |
ENST00000566753 | ENST00000269445 | BLOC1S6 | chr15 | 45884474 | + | DYM | chr18 | 46918015 | - | 0.000751531 | 0.99924845 |
ENST00000565323 | ENST00000442713 | BLOC1S6 | chr15 | 45884474 | + | DYM | chr18 | 46918015 | - | 0.000685329 | 0.99931467 |
ENST00000565323 | ENST00000269445 | BLOC1S6 | chr15 | 45884474 | + | DYM | chr18 | 46918015 | - | 0.001556732 | 0.9984433 |
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Fusion Genomic Features for BLOC1S6-DYM |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BLOC1S6-DYM |
![]() 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. |
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Hgene | Tgene |
. | DYM |
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}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | BLOC1S6 | chr15:45884474 | chr18:46918015 | ENST00000220531 | + | 2 | 5 | 63_167 | 74 | 173.0 | Coiled coil | Ontology_term=ECO:0000255 |
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Fusion Gene Sequence for BLOC1S6-DYM |
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>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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BLOC1S6-DYM |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BLOC1S6-DYM |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BLOC1S6 | C3280026 | HERMANSKY-PUDLAK SYNDROME 9 | 3 | GENOMICS_ENGLAND;ORPHANET |
Hgene | BLOC1S6 | C1844666 | Immune dysregulation | 1 | GENOMICS_ENGLAND |
Tgene | C0265286 | Dyggve-Melchior-Clausen syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C3888088 | SMITH-MCCORT DYSPLASIA 1 | 4 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1846431 | SMITH-MCCORT DYSPLASIA | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET |