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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:STXBP6-TMEM189-UBE2V1 (FusionGDB2 ID:87910)

Fusion Gene Summary for STXBP6-TMEM189-UBE2V1

check button Fusion gene summary
Fusion gene informationFusion gene name: STXBP6-TMEM189-UBE2V1
Fusion gene ID: 87910
HgeneTgene
Gene symbol

STXBP6

TMEM189-UBE2V1

Gene ID

29091

387522

Gene namesyntaxin binding protein 6TMEM189-UBE2V1 readthrough
SynonymsHSPC156|amisynCROC-1B|CROC1B|KUA-UEV
Cytomap

14q12

20q13.13

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-binding protein 6TMEM189-UBE2V1 fusion proteinTMEM189-UBE2V1 readthrough transcripttransmembrane protein 189-ubiquitin-conjugating enzyme E2 variant 1 read-through
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000396700, ENST00000419632, 
ENST00000548724, ENST00000323944, 
ENST00000358326, ENST00000546511, 
ENST00000550887, ENST00000548369, 
ENST00000341698, 
Fusion gene scores* DoF score4 X 3 X 4=4813 X 14 X 2=364
# samples 715
** MAII scorelog2(7/48*10)=0.54432051622381
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/364*10)=-1.27897594970282
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STXBP6 [Title/Abstract] AND TMEM189-UBE2V1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSTXBP6(25443871)-TMEM189-UBE2V1(48760158), # samples:1
Anticipated loss of major functional domain due to fusion event.STXBP6-TMEM189-UBE2V1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSTXBP6

GO:0035542

regulation of SNARE complex assembly

12145319


check buttonFusion gene breakpoints across STXBP6 (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 TMEM189-UBE2V1 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-AX-A3GI-01ASTXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-


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Fusion Gene ORF analysis for STXBP6-TMEM189-UBE2V1

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
Frame-shiftENST00000396700ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
Frame-shiftENST00000419632ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
Frame-shiftENST00000548724ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
In-frameENST00000323944ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
In-frameENST00000358326ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
In-frameENST00000546511ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
In-frameENST00000550887ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-
intron-3CDSENST00000548369ENST00000341698STXBP6chr14

25443871

-TMEM189-UBE2V1chr20

48760158

-

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)
ENST00000323944STXBP6chr1425443871-ENST00000341698TMEM189-UBE2V1chr2048760158-324260651597530
ENST00000546511STXBP6chr1425443871-ENST00000341698TMEM189-UBE2V1chr2048760158-2863227461218390
ENST00000550887STXBP6chr1425443871-ENST00000341698TMEM189-UBE2V1chr2048760158-30594232421414390
ENST00000358326STXBP6chr1425443871-ENST00000341698TMEM189-UBE2V1chr2048760158-2843207141198394

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
ENST00000323944ENST00000341698STXBP6chr1425443871-TMEM189-UBE2V1chr2048760158-0.0029358840.9970642
ENST00000546511ENST00000341698STXBP6chr1425443871-TMEM189-UBE2V1chr2048760158-0.0014757770.99852425
ENST00000550887ENST00000341698STXBP6chr1425443871-TMEM189-UBE2V1chr2048760158-0.0015465010.9984535
ENST00000358326ENST00000341698STXBP6chr1425443871-TMEM189-UBE2V1chr2048760158-0.0015158330.9984842

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Fusion Genomic Features for STXBP6-TMEM189-UBE2V1


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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for STXBP6-TMEM189-UBE2V1


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/chr14:25443871/chr20:48760158)
- 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
..
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: 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}.

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
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000323944-26151_21051211.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000358326-26151_21051211.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000396700-37151_21051211.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000419632-26151_21051211.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000546511-26151_21051211.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000548369-12151_2100109.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000548724-37151_21051211.0Domainv-SNARE coiled-coil homology
HgeneSTXBP6chr14:25443871chr20:48760158ENST00000550887-37151_21051211.0Domainv-SNARE coiled-coil homology


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Fusion Gene Sequence for STXBP6-TMEM189-UBE2V1


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.
>87910_87910_1_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000323944_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(transcript)=3242nt_BP=606nt
GAGGCCTGGGGCGGGTCGCGGGTCCCGGCCCCCAGCCCCCAGCCCCTAGCCGCTGCTCTTTGCCCCGGGCCAGGGCGCTCGGGCTCGCCC
ACGGCGGCACTGAGCATGCTCAGAGGCGGCCGCGCGGGCAGGTTTGCTTCGCAGGCGCTCGCACTCGGCGGCGGGCGGGCGCGCGGCTGC
AGCTGGAGCTCCAGCGCCCGGAGTTGGAGTTGCCGGGAGTTTCCCCCCAACCCCTCCCTTTTCGCGCGCGGCAGCAGGAGCCGGCGCGGG
AGCCGCGAGCGGCGGCGAGCCAGCACCCGGGCCGGCTAAGCCTTGTCCGGAGCCCGGAGCCCCGCGCGGGGCAGCCCCCCGGGGAGGAGC
CTCGTGCTCTGGGACGCGTGCCGCGCACTGGCACGGCAGGGGCGCGAGCCAGGCTGCACGATTCACTGCGTGCTGTCCTCACTTGTTCTA
CAATGAGTGCCAAATCTGCTATCAGCAAGGAAATTTTTGCACCTCTTGATGAAAGGATGCTGGGAGCTGTCCAAGTCAAGAGGAGGACAA
AGAAAAAGATTCCTTTCTTGGCAACTGGAGGTCAAGGCGAATATTTAACTTATATCTGCCTGTCAGGCAAGCGCCTCCAGGAGTGGTGCT
CTGTGATCCTGTGCTTCAGCCTCATCGCCCACAACCTGGTCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCG
GTGTTGTTGCAGGGGCTCTCATTGCTGACTTCTTGTCTGGCCTGGTACACTGGGGTGCTGACACATGGGGCTCTGTGGAGCTGCCCATTG
TGGGGAAGGCTTTCATCCGACCCTTCCGGGAGCACCACATTGACCCGACAGCTATCACACGGCACGACTTCATCGAGACCAACGGGGACA
ACTGCCTGGTGACACTGCTGCCGCTGCTAAACATGGCCTACAAGTTCCGCACCCACAGCCCTGAAGCCCTGGAGCAGCTATACCCCTGGG
AGTGCTTCGTCTTCTGCCTGATCATCTTCGGCACCTTCACCAACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGG
TCACCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCA
CCACAGGAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGG
GTCTAGAAGATGACGAAGACATGACACTTACAAGATGGACAGGGATGATAATTGGGCCTCCAAGAACAATTTATGAAAACCGAATATACA
GCCTTAAAATAGAATGTGGACCTAAATACCCAGAAGCACCCCCCTTTGTAAGATTTGTAACAAAAATTAATATGAATGGAGTAAATAGTT
CTAATGGAGTGGTGGACCCAAGAGCCATATCAGTGCTAGCAAAATGGCAGAATTCATATAGCATCAAAGTTGTCCTGCAAGAGCTTCGGC
GCCTAATGATGTCTAAAGAAAATATGAAACTCCCTCAGCCGCCCGAAGGACAGTGTTACAGCAATTAATCAAAAAGAAAAACCACAGGCC
CTTCCCCTTCCCCCCAATTCGATTTAATCAGTCTTCATTTTCCACAGTAGTAAATTTTCTAGATACGTCTTGTAGACCTCAAAGTACCGG
AAAGGAAGCTCCCATTCAAAGGAAATTTATCTTAAGATACTGTAAATGATACTAATTTTTTGTCCATTTGAAATATATAAGTTGTGCTAT
AACAAATCATCCTGTCAAGTGTAACCACTGTCCACGTAGTTGAACTTCTGGGATCAAGAAAGTCTATTTAAATTGATTCCCATCATAACT
GGTGGGGCACATCTAACTCAACTGTGAAAAGACACATCACACAATCACCTTGCTGCTGATTACACGGCCTGGGGTCTCTGCCTTCTCCCC
TTACCCTCCCGCCTCCCACCCTCCCTGCAACAACAGCCCTCTAGCCTGGGGGGCTTGTTAGAGTAGATGTGAAGGTTTCAGGTCGCAGCC
TGTGGGACTACTGCTAGGTGTGTGGGGTGTTTCGCCTGCACCCCTGGTTTCTTTAAGTCTTAAGTGATGCCCCTTCCAAACCATCATCCT
GTCCCCACGCTCCTCCACTCCCGCCCTTGGCCGAAGCATAGATTGTAACCCCTCCACTCCCCTCTGAGATTGGCCTTCGGTGAGGAATTC
AGGGCTTTCCCCATATCTTCTCTCCCCCACCTTTATCGAGGGGTGCTGCTTTTTCTCCCTCCTCCTCAAGTTCCTTTTTGCACCGTCACC
ACCCAACACCTTCCATGACACTTCCTTGCTTTGGCCAGAAGCCATCAGGTAAGGTTGGAAAGAGCCTCTGACCTCCCTTGTTTAGTTTTG
GAACCATACTCACTCACTCTCCACCAGCCTGGGAAATGAATATTGGGTCCTCAGCCCTGCCACCCTCTGCTGTCATCAGCTGATGCATTG
TTTTTAGCTCAGGTTTTGATAAGGTGAAAAGAATAGTCACCAGGGTTACTCAGACCTGCCAGCTCTCGGAGTCCTTGGTGGTTGAACTTG
GAGAAAGACCGCATGAAGATACTTGTAAGCACACATGATCCCTCTGAATTGTTTTACTTTCCTGTAACTGCTTTTGCTTTTAAAAATTGA
AGAAGTTTTAAACAGGGCTTTCATTTGGTCATCCTTGCAATCCATTGGGGTCTAGTTTGGAATCTGACAACTGGAACAAAAAGAACCTTG
AATCCGGTGCATGCCTTGGTTTTGGTGCTGCTGCTGCTTCCCAAGATCCTCAGCAGGGATTAAGAAGGAACCCGGTGTGCACAGCAGATC
CCCGAAATTGGTGGGCTTGACCTCCTGGCAAATTGCTGCGTCTTTCCACTTGCTGTTCAGGACCACTAAATGCTGAAATGTGGATGCATA
CCGAAATAAAAGCAATTCATTGTGTACTAAAGGTTTTTTTTTTTTTTTTAATTTAGTATTTGTGTAAAACCACCTTTTGAAGCAGCAACT
ATCAAGTCTGAAAAGCAATTGATGTTTCCATTAATCTTTTTCTGGGGGGAAAACCTTAGTTCTAAGGATTTAACATCCTGTAAGTGAAGT
TTAACATAACAGTATTCCATAAGCAGCCTTTTTATTGTCAGACCATTGCCTGATTTTAATATAATAAAAAAAAAGTGTGCGTTAATATTT

>87910_87910_1_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000323944_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(amino acids)=530AA_BP=200
MGRVAGPGPQPPAPSRCSLPRARALGLAHGGTEHAQRRPRGQVCFAGARTRRRAGARLQLELQRPELELPGVSPQPLPFRARQQEPAREP
RAAASQHPGRLSLVRSPEPRAGQPPGEEPRALGRVPRTGTAGARARLHDSLRAVLTCSTMSAKSAISKEIFAPLDERMLGAVQVKRRTKK
KIPFLATGGQGEYLTYICLSGKRLQEWCSVILCFSLIAHNLVHLLLLARWEDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIVG
KAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPEALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVT
LLQDWHVILPRKHHRIHHVSPHETYFCITTGVKVPRNFRLLEELEEGQKGVGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTIYENRIYSL

--------------------------------------------------------------
>87910_87910_2_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000358326_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(transcript)=2843nt_BP=207nt
GGGCGCGAGCCAGGCTGCACGATTCACTGCGTGCTGTCCTCACTTGTTCTACAATGAGTGCCAAATCTGCTATCAGCAAGGAAATTTTTG
CACCTCTTGATGAAAGGATGCTGGGAGCTGTCCAAGTCAAGAGGAGGACAAAGAAAAAGATTCCTTTCTTGGCAACTGGAGGTCAAGGCG
AATATTTAACTTATATCTGCCTGTCAGGCAAGCGCCTCCAGGAGTGGTGCTCTGTGATCCTGTGCTTCAGCCTCATCGCCCACAACCTGG
TCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCGGTGTTGTTGCAGGGGCTCTCATTGCTGACTTCTTGTCTG
GCCTGGTACACTGGGGTGCTGACACATGGGGCTCTGTGGAGCTGCCCATTGTGGGGAAGGCTTTCATCCGACCCTTCCGGGAGCACCACA
TTGACCCGACAGCTATCACACGGCACGACTTCATCGAGACCAACGGGGACAACTGCCTGGTGACACTGCTGCCGCTGCTAAACATGGCCT
ACAAGTTCCGCACCCACAGCCCTGAAGCCCTGGAGCAGCTATACCCCTGGGAGTGCTTCGTCTTCTGCCTGATCATCTTCGGCACCTTCA
CCAACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCACCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTA
AACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCACAGGAGTAAAAGTCCCTCGCAATTTCCGACTGTTGG
AAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTCTAGAAGATGACGAAGACATGACACTTACAAGATGGA
CAGGGATGATAATTGGGCCTCCAAGAACAATTTATGAAAACCGAATATACAGCCTTAAAATAGAATGTGGACCTAAATACCCAGAAGCAC
CCCCCTTTGTAAGATTTGTAACAAAAATTAATATGAATGGAGTAAATAGTTCTAATGGAGTGGTGGACCCAAGAGCCATATCAGTGCTAG
CAAAATGGCAGAATTCATATAGCATCAAAGTTGTCCTGCAAGAGCTTCGGCGCCTAATGATGTCTAAAGAAAATATGAAACTCCCTCAGC
CGCCCGAAGGACAGTGTTACAGCAATTAATCAAAAAGAAAAACCACAGGCCCTTCCCCTTCCCCCCAATTCGATTTAATCAGTCTTCATT
TTCCACAGTAGTAAATTTTCTAGATACGTCTTGTAGACCTCAAAGTACCGGAAAGGAAGCTCCCATTCAAAGGAAATTTATCTTAAGATA
CTGTAAATGATACTAATTTTTTGTCCATTTGAAATATATAAGTTGTGCTATAACAAATCATCCTGTCAAGTGTAACCACTGTCCACGTAG
TTGAACTTCTGGGATCAAGAAAGTCTATTTAAATTGATTCCCATCATAACTGGTGGGGCACATCTAACTCAACTGTGAAAAGACACATCA
CACAATCACCTTGCTGCTGATTACACGGCCTGGGGTCTCTGCCTTCTCCCCTTACCCTCCCGCCTCCCACCCTCCCTGCAACAACAGCCC
TCTAGCCTGGGGGGCTTGTTAGAGTAGATGTGAAGGTTTCAGGTCGCAGCCTGTGGGACTACTGCTAGGTGTGTGGGGTGTTTCGCCTGC
ACCCCTGGTTTCTTTAAGTCTTAAGTGATGCCCCTTCCAAACCATCATCCTGTCCCCACGCTCCTCCACTCCCGCCCTTGGCCGAAGCAT
AGATTGTAACCCCTCCACTCCCCTCTGAGATTGGCCTTCGGTGAGGAATTCAGGGCTTTCCCCATATCTTCTCTCCCCCACCTTTATCGA
GGGGTGCTGCTTTTTCTCCCTCCTCCTCAAGTTCCTTTTTGCACCGTCACCACCCAACACCTTCCATGACACTTCCTTGCTTTGGCCAGA
AGCCATCAGGTAAGGTTGGAAAGAGCCTCTGACCTCCCTTGTTTAGTTTTGGAACCATACTCACTCACTCTCCACCAGCCTGGGAAATGA
ATATTGGGTCCTCAGCCCTGCCACCCTCTGCTGTCATCAGCTGATGCATTGTTTTTAGCTCAGGTTTTGATAAGGTGAAAAGAATAGTCA
CCAGGGTTACTCAGACCTGCCAGCTCTCGGAGTCCTTGGTGGTTGAACTTGGAGAAAGACCGCATGAAGATACTTGTAAGCACACATGAT
CCCTCTGAATTGTTTTACTTTCCTGTAACTGCTTTTGCTTTTAAAAATTGAAGAAGTTTTAAACAGGGCTTTCATTTGGTCATCCTTGCA
ATCCATTGGGGTCTAGTTTGGAATCTGACAACTGGAACAAAAAGAACCTTGAATCCGGTGCATGCCTTGGTTTTGGTGCTGCTGCTGCTT
CCCAAGATCCTCAGCAGGGATTAAGAAGGAACCCGGTGTGCACAGCAGATCCCCGAAATTGGTGGGCTTGACCTCCTGGCAAATTGCTGC
GTCTTTCCACTTGCTGTTCAGGACCACTAAATGCTGAAATGTGGATGCATACCGAAATAAAAGCAATTCATTGTGTACTAAAGGTTTTTT
TTTTTTTTTTAATTTAGTATTTGTGTAAAACCACCTTTTGAAGCAGCAACTATCAAGTCTGAAAAGCAATTGATGTTTCCATTAATCTTT
TTCTGGGGGGAAAACCTTAGTTCTAAGGATTTAACATCCTGTAAGTGAAGTTTAACATAACAGTATTCCATAAGCAGCCTTTTTATTGTC

>87910_87910_2_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000358326_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(amino acids)=394AA_BP=64
MHDSLRAVLTCSTMSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSGKRLQEWCSVILCFSLIAHNLVHLLL
LARWEDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRT
HSPEALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGVKVPRNFRLLEELEE
GQKGVGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTIYENRIYSLKIECGPKYPEAPPFVRFVTKINMNGVNSSNGVVDPRAISVLAKWQN

--------------------------------------------------------------
>87910_87910_3_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000546511_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(transcript)=2863nt_BP=227nt
ATTACGCTTCCCTAGGGACTGGGTGGGAGAGAATAGGATCGATTCACTGCGTGCTGTCCTCACTTGTTCTACAATGAGTGCCAAATCTGC
TATCAGCAAGGAAATTTTTGCACCTCTTGATGAAAGGATGCTGGGAGCTGTCCAAGTCAAGAGGAGGACAAAGAAAAAGATTCCTTTCTT
GGCAACTGGAGGTCAAGGCGAATATTTAACTTATATCTGCCTGTCAGGCAAGCGCCTCCAGGAGTGGTGCTCTGTGATCCTGTGCTTCAG
CCTCATCGCCCACAACCTGGTCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCGGTGTTGTTGCAGGGGCTCT
CATTGCTGACTTCTTGTCTGGCCTGGTACACTGGGGTGCTGACACATGGGGCTCTGTGGAGCTGCCCATTGTGGGGAAGGCTTTCATCCG
ACCCTTCCGGGAGCACCACATTGACCCGACAGCTATCACACGGCACGACTTCATCGAGACCAACGGGGACAACTGCCTGGTGACACTGCT
GCCGCTGCTAAACATGGCCTACAAGTTCCGCACCCACAGCCCTGAAGCCCTGGAGCAGCTATACCCCTGGGAGTGCTTCGTCTTCTGCCT
GATCATCTTCGGCACCTTCACCAACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCACCCTCCTGCAGGACTG
GCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCACAGGAGTAAAAGTCCC
TCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTCTAGAAGATGACGAAGA
CATGACACTTACAAGATGGACAGGGATGATAATTGGGCCTCCAAGAACAATTTATGAAAACCGAATATACAGCCTTAAAATAGAATGTGG
ACCTAAATACCCAGAAGCACCCCCCTTTGTAAGATTTGTAACAAAAATTAATATGAATGGAGTAAATAGTTCTAATGGAGTGGTGGACCC
AAGAGCCATATCAGTGCTAGCAAAATGGCAGAATTCATATAGCATCAAAGTTGTCCTGCAAGAGCTTCGGCGCCTAATGATGTCTAAAGA
AAATATGAAACTCCCTCAGCCGCCCGAAGGACAGTGTTACAGCAATTAATCAAAAAGAAAAACCACAGGCCCTTCCCCTTCCCCCCAATT
CGATTTAATCAGTCTTCATTTTCCACAGTAGTAAATTTTCTAGATACGTCTTGTAGACCTCAAAGTACCGGAAAGGAAGCTCCCATTCAA
AGGAAATTTATCTTAAGATACTGTAAATGATACTAATTTTTTGTCCATTTGAAATATATAAGTTGTGCTATAACAAATCATCCTGTCAAG
TGTAACCACTGTCCACGTAGTTGAACTTCTGGGATCAAGAAAGTCTATTTAAATTGATTCCCATCATAACTGGTGGGGCACATCTAACTC
AACTGTGAAAAGACACATCACACAATCACCTTGCTGCTGATTACACGGCCTGGGGTCTCTGCCTTCTCCCCTTACCCTCCCGCCTCCCAC
CCTCCCTGCAACAACAGCCCTCTAGCCTGGGGGGCTTGTTAGAGTAGATGTGAAGGTTTCAGGTCGCAGCCTGTGGGACTACTGCTAGGT
GTGTGGGGTGTTTCGCCTGCACCCCTGGTTTCTTTAAGTCTTAAGTGATGCCCCTTCCAAACCATCATCCTGTCCCCACGCTCCTCCACT
CCCGCCCTTGGCCGAAGCATAGATTGTAACCCCTCCACTCCCCTCTGAGATTGGCCTTCGGTGAGGAATTCAGGGCTTTCCCCATATCTT
CTCTCCCCCACCTTTATCGAGGGGTGCTGCTTTTTCTCCCTCCTCCTCAAGTTCCTTTTTGCACCGTCACCACCCAACACCTTCCATGAC
ACTTCCTTGCTTTGGCCAGAAGCCATCAGGTAAGGTTGGAAAGAGCCTCTGACCTCCCTTGTTTAGTTTTGGAACCATACTCACTCACTC
TCCACCAGCCTGGGAAATGAATATTGGGTCCTCAGCCCTGCCACCCTCTGCTGTCATCAGCTGATGCATTGTTTTTAGCTCAGGTTTTGA
TAAGGTGAAAAGAATAGTCACCAGGGTTACTCAGACCTGCCAGCTCTCGGAGTCCTTGGTGGTTGAACTTGGAGAAAGACCGCATGAAGA
TACTTGTAAGCACACATGATCCCTCTGAATTGTTTTACTTTCCTGTAACTGCTTTTGCTTTTAAAAATTGAAGAAGTTTTAAACAGGGCT
TTCATTTGGTCATCCTTGCAATCCATTGGGGTCTAGTTTGGAATCTGACAACTGGAACAAAAAGAACCTTGAATCCGGTGCATGCCTTGG
TTTTGGTGCTGCTGCTGCTTCCCAAGATCCTCAGCAGGGATTAAGAAGGAACCCGGTGTGCACAGCAGATCCCCGAAATTGGTGGGCTTG
ACCTCCTGGCAAATTGCTGCGTCTTTCCACTTGCTGTTCAGGACCACTAAATGCTGAAATGTGGATGCATACCGAAATAAAAGCAATTCA
TTGTGTACTAAAGGTTTTTTTTTTTTTTTTAATTTAGTATTTGTGTAAAACCACCTTTTGAAGCAGCAACTATCAAGTCTGAAAAGCAAT
TGATGTTTCCATTAATCTTTTTCTGGGGGGAAAACCTTAGTTCTAAGGATTTAACATCCTGTAAGTGAAGTTTAACATAACAGTATTCCA

>87910_87910_3_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000546511_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(amino acids)=390AA_BP=60
MRAVLTCSTMSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSGKRLQEWCSVILCFSLIAHNLVHLLLLARW
EDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPE
ALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGVKVPRNFRLLEELEEGQKG
VGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTIYENRIYSLKIECGPKYPEAPPFVRFVTKINMNGVNSSNGVVDPRAISVLAKWQNSYSI

--------------------------------------------------------------
>87910_87910_4_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000550887_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(transcript)=3059nt_BP=423nt
TTTCCTGTTTAGAAAGTTCTGCTCCTTCATAAGGACCTTGAAGTACTAGGAGGAAAGGTGCTTTGTGTGTGGAGTTTTCCATGAAGTGCA
GTCCCAACTAAAAGGCTGCGTTAAAGGCTAGAGTAGTGCAGTGGCGTGATCTCAGCTCACTCCAGCCTCTGCCTCCCGGGCTCAAGTGAC
CCACCTGCCTCAGCCTCCCAAGTAGCTGGGACAACAGATGTGAGCCACCACACCCAGATTCACTGCGTGCTGTCCTCACTTGTTCTACAA
TGAGTGCCAAATCTGCTATCAGCAAGGAAATTTTTGCACCTCTTGATGAAAGGATGCTGGGAGCTGTCCAAGTCAAGAGGAGGACAAAGA
AAAAGATTCCTTTCTTGGCAACTGGAGGTCAAGGCGAATATTTAACTTATATCTGCCTGTCAGGCAAGCGCCTCCAGGAGTGGTGCTCTG
TGATCCTGTGCTTCAGCCTCATCGCCCACAACCTGGTCCATCTCCTGCTGCTGGCCCGCTGGGAGGACACACCCCTCGTCATACTCGGTG
TTGTTGCAGGGGCTCTCATTGCTGACTTCTTGTCTGGCCTGGTACACTGGGGTGCTGACACATGGGGCTCTGTGGAGCTGCCCATTGTGG
GGAAGGCTTTCATCCGACCCTTCCGGGAGCACCACATTGACCCGACAGCTATCACACGGCACGACTTCATCGAGACCAACGGGGACAACT
GCCTGGTGACACTGCTGCCGCTGCTAAACATGGCCTACAAGTTCCGCACCCACAGCCCTGAAGCCCTGGAGCAGCTATACCCCTGGGAGT
GCTTCGTCTTCTGCCTGATCATCTTCGGCACCTTCACCAACCAGATCCACAAGTGGTCGCACACGTACTTTGGGCTGCCACGCTGGGTCA
CCCTCCTGCAGGACTGGCATGTCATCCTGCCACGTAAACACCATCGCATCCACCACGTCTCACCCCACGAGACCTACTTCTGCATCACCA
CAGGAGTAAAAGTCCCTCGCAATTTCCGACTGTTGGAAGAACTCGAAGAAGGCCAGAAAGGAGTAGGAGATGGCACAGTTAGCTGGGGTC
TAGAAGATGACGAAGACATGACACTTACAAGATGGACAGGGATGATAATTGGGCCTCCAAGAACAATTTATGAAAACCGAATATACAGCC
TTAAAATAGAATGTGGACCTAAATACCCAGAAGCACCCCCCTTTGTAAGATTTGTAACAAAAATTAATATGAATGGAGTAAATAGTTCTA
ATGGAGTGGTGGACCCAAGAGCCATATCAGTGCTAGCAAAATGGCAGAATTCATATAGCATCAAAGTTGTCCTGCAAGAGCTTCGGCGCC
TAATGATGTCTAAAGAAAATATGAAACTCCCTCAGCCGCCCGAAGGACAGTGTTACAGCAATTAATCAAAAAGAAAAACCACAGGCCCTT
CCCCTTCCCCCCAATTCGATTTAATCAGTCTTCATTTTCCACAGTAGTAAATTTTCTAGATACGTCTTGTAGACCTCAAAGTACCGGAAA
GGAAGCTCCCATTCAAAGGAAATTTATCTTAAGATACTGTAAATGATACTAATTTTTTGTCCATTTGAAATATATAAGTTGTGCTATAAC
AAATCATCCTGTCAAGTGTAACCACTGTCCACGTAGTTGAACTTCTGGGATCAAGAAAGTCTATTTAAATTGATTCCCATCATAACTGGT
GGGGCACATCTAACTCAACTGTGAAAAGACACATCACACAATCACCTTGCTGCTGATTACACGGCCTGGGGTCTCTGCCTTCTCCCCTTA
CCCTCCCGCCTCCCACCCTCCCTGCAACAACAGCCCTCTAGCCTGGGGGGCTTGTTAGAGTAGATGTGAAGGTTTCAGGTCGCAGCCTGT
GGGACTACTGCTAGGTGTGTGGGGTGTTTCGCCTGCACCCCTGGTTTCTTTAAGTCTTAAGTGATGCCCCTTCCAAACCATCATCCTGTC
CCCACGCTCCTCCACTCCCGCCCTTGGCCGAAGCATAGATTGTAACCCCTCCACTCCCCTCTGAGATTGGCCTTCGGTGAGGAATTCAGG
GCTTTCCCCATATCTTCTCTCCCCCACCTTTATCGAGGGGTGCTGCTTTTTCTCCCTCCTCCTCAAGTTCCTTTTTGCACCGTCACCACC
CAACACCTTCCATGACACTTCCTTGCTTTGGCCAGAAGCCATCAGGTAAGGTTGGAAAGAGCCTCTGACCTCCCTTGTTTAGTTTTGGAA
CCATACTCACTCACTCTCCACCAGCCTGGGAAATGAATATTGGGTCCTCAGCCCTGCCACCCTCTGCTGTCATCAGCTGATGCATTGTTT
TTAGCTCAGGTTTTGATAAGGTGAAAAGAATAGTCACCAGGGTTACTCAGACCTGCCAGCTCTCGGAGTCCTTGGTGGTTGAACTTGGAG
AAAGACCGCATGAAGATACTTGTAAGCACACATGATCCCTCTGAATTGTTTTACTTTCCTGTAACTGCTTTTGCTTTTAAAAATTGAAGA
AGTTTTAAACAGGGCTTTCATTTGGTCATCCTTGCAATCCATTGGGGTCTAGTTTGGAATCTGACAACTGGAACAAAAAGAACCTTGAAT
CCGGTGCATGCCTTGGTTTTGGTGCTGCTGCTGCTTCCCAAGATCCTCAGCAGGGATTAAGAAGGAACCCGGTGTGCACAGCAGATCCCC
GAAATTGGTGGGCTTGACCTCCTGGCAAATTGCTGCGTCTTTCCACTTGCTGTTCAGGACCACTAAATGCTGAAATGTGGATGCATACCG
AAATAAAAGCAATTCATTGTGTACTAAAGGTTTTTTTTTTTTTTTTAATTTAGTATTTGTGTAAAACCACCTTTTGAAGCAGCAACTATC
AAGTCTGAAAAGCAATTGATGTTTCCATTAATCTTTTTCTGGGGGGAAAACCTTAGTTCTAAGGATTTAACATCCTGTAAGTGAAGTTTA

>87910_87910_4_STXBP6-TMEM189-UBE2V1_STXBP6_chr14_25443871_ENST00000550887_TMEM189-UBE2V1_chr20_48760158_ENST00000341698_length(amino acids)=390AA_BP=60
MRAVLTCSTMSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSGKRLQEWCSVILCFSLIAHNLVHLLLLARW
EDTPLVILGVVAGALIADFLSGLVHWGADTWGSVELPIVGKAFIRPFREHHIDPTAITRHDFIETNGDNCLVTLLPLLNMAYKFRTHSPE
ALEQLYPWECFVFCLIIFGTFTNQIHKWSHTYFGLPRWVTLLQDWHVILPRKHHRIHHVSPHETYFCITTGVKVPRNFRLLEELEEGQKG
VGDGTVSWGLEDDEDMTLTRWTGMIIGPPRTIYENRIYSLKIECGPKYPEAPPFVRFVTKINMNGVNSSNGVVDPRAISVLAKWQNSYSI

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

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Fusion Gene PPI Analysis for STXBP6-TMEM189-UBE2V1


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 STXBP6-TMEM189-UBE2V1


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 STXBP6-TMEM189-UBE2V1


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