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:DFNA5-SCRN1 (FusionGDB2 ID:HG1687TG9805)

Fusion Gene Summary for DFNA5-SCRN1

check button Fusion gene summary
Fusion gene informationFusion gene name: DFNA5-SCRN1
Fusion gene ID: hg1687tg9805
HgeneTgene
Gene symbol

DFNA5

SCRN1

Gene ID

1687

9805

Gene namegasdermin Esecernin 1
SynonymsDFNA5|ICERE-1SES1
Cytomap('DFNA5')('SCRN1')

7p15.3

7p14.3

Type of geneprotein-codingprotein-coding
Descriptiongasdermin-EDFNA5, deafness associated tumor suppressorinversely correlated with estrogen receptor expression 1non-syndromic hearing impairment protein 5nonsyndromic hearing impairment proteinsecernin-1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342947, ENST00000409775, 
ENST00000409970, ENST00000419307, 
ENST00000545231, ENST00000559637, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 2=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: DFNA5 [Title/Abstract] AND SCRN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDFNA5(24784181)-SCRN1(29994978), # samples:1
Anticipated loss of major functional domain due to fusion event.DFNA5-SCRN1 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.
DFNA5-SCRN1 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.
DFNA5-SCRN1 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.
DFNA5-SCRN1 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.
DFNA5-SCRN1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor 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
HgeneDFNA5

GO:0008285

negative regulation of cell proliferation

18223688

HgeneDFNA5

GO:0070265

necrotic cell death

28045099

HgeneDFNA5

GO:0070269

pyroptosis

28459430

HgeneDFNA5

GO:0071356

cellular response to tumor necrosis factor

28459430

HgeneDFNA5

GO:0098586

cellular response to virus

28045099

HgeneDFNA5

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

21522185


check buttonFusion gene breakpoints across DFNA5 (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 SCRN1 (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 DFNA5-SCRN1

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
ENST00000342947ENST00000242059DFNA5chr724784181-SCRN1chr729994978-0.0007695130.9992305
ENST00000342947ENST00000426154DFNA5chr724784181-SCRN1chr729994978-0.0007742440.99922574

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Fusion Genomic Features for DFNA5-SCRN1


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 DFNA5-SCRN1


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/chr7:24784181/chr7:29994978)
- 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
HgeneDFNA5chr7:24784181chr7:29994978ENST00000342947-3101_56134497.0RegionMembrane targeting domain
HgeneDFNA5chr7:24784181chr7:29994978ENST00000409775-3101_56134497.0RegionMembrane targeting domain

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDFNA5chr7:24784181chr7:29994978ENST00000409970-291_560333.0RegionMembrane targeting domain
HgeneDFNA5chr7:24784181chr7:29994978ENST00000419307-291_560333.0RegionMembrane targeting domain
HgeneDFNA5chr7:24784181chr7:29994978ENST00000545231-5121_560333.0RegionMembrane targeting domain


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Fusion Gene Sequence for DFNA5-SCRN1


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.
>22380_22380_1_DFNA5-SCRN1_DFNA5_chr7_24784181_ENST00000342947_SCRN1_chr7_29994978_ENST00000242059_length(transcript)=5770nt_BP=830nt
AGAAAGCAATGTTTGAGCACCAGCTATGCTGAGATTCCCTCGTTCAGTATTCGTTGAGCACCCAGTGTGTGAGAGCGCCTGGTTTTGCCC
TCAAGGAGCTTAGAGTGGAGTTTACAGGAATGAATCACTGATTAGCGGCAGGCCTAAGTGTGGGCACTGTCGCACCACACACCCAGATAC
TACTCCAGGCACGGGCATTAGGGGCTCCCACAGGCTGGACAGGCCTTGGACTTTCCTGGTTGAACCGTGAGGCCGCGGTGTCAGTCCACA
CTCCACTGTGGGTGGCGGGTTCGGCCCCGCGAGGAGGCGCCGCTCTCAAACCCCACGGTCCCGCGCAGCGAAGAGGCGAGGCGGCCGCGG
AAGGCAGGCGCAGCCCACTCTTCCCGAGAGGCCCCGACATCTCCCGGATAATCTGGAGCTTTCAAAATGTTTGCCAAAGCAACCAGGAAT
TTTCTTAGAGAAGTTGATGCTGATGGTGACCTGATTGCAGTATCAAATCTGAATGACTCTGATAAGTTACAGCTTCTAAGTCTGGTGACA
AAAAAGAAGAGATTCTGGTGCTGGCAGAGACCCAAGTACCAGTTTTTATCCCTCACCCTTGGCGATGTACTCATAGAAGACCAATTTCCG
AGTCCAGTGGTCGTGGAGTCGGACTTTGTGAAATACGAGGGCAAGTTTGCAAACCACGTGAGTGGAACCCTGGAGACTGCACTGGGGAAG
GTCAAGCTGAACCTGGGGGGCAGCAGCCGCGTAGAGAGCCAGTCTTCATTTGGAACCCTGAGGAAGCAGGAGGTGGATTTGCAGCAGCTC
ATCAGAGACTCTGCCGAGAGTGCACTTACATTTCAATCGACCAAGTTCCAAGGACCTATGCCATAATGATAAGCAGACCCGCCTGGCTCT
GGGGAGCAGAAATGGGAGCCAATGAACATGGAGTGTGCATAGCCAATGAAGCCATCAACACCAGAGAGCCAGCTGCCGAGATAGAAGCCT
TGCTGGGGATGGATCTGGTCAGGCTTGGTTTAGAAAGAGGGGAAACAGCTAAAGAAGCCTTAGATGTCATTGTCTCCTTGTTGGAAGAAC
ATGGACAAGGTGGGAATTACTTTGAAGATGCAAACTCCTGCCACAGCTTCCAAAGTGCATATCTGATTGTGGATCGTGATGAAGCCTGGG
TGCTCGAGACCATAGGGAAGTACTGGGCTGCCGAGAAAGTCACAGAGGGAGTGAGGTGCATTTGCAGTCAGCTTTCGCTCACCACTAAGA
TGGATGCAGAGCATCCGGAACTCAGGAGTTACGCTCAGAGCCAAGGTTGGTGGACGGGAGAGGGCGAGTTCAATTTTTCCGAAGTCTTTT
CTCCAGTTGAGGATCATCTAGACTGCGGTGCTGGCAAAGACAGCTTAGAAAAACAAGAAGAAAGCATCACAGTGCAGACTATGATGAACA
CCTTACGGGACAAAGCCAGCGGAGTGTGCATAGACTCTGAGTTTTTCCTCACCACAGCCAGTGGAGTGTCTGTCCTGCCGCAGAATAGAA
GCTCTCCGTGCATTCACTACTTCACTGGAACCCCTGATCCTTCCAGGTCCATATTCAAGCCTTTCATCTTTGTTGATGACGTAAAACTTG
TCCCCAAAACACAGTCTCCCTGTTTTGGGGATGACGACCCTGCCAAAAAGGAGCCTCGGTTCCAGGAGAAACCAGACCGCCGGCATGAGC
TGTACAAAGCCCACGAGTGGGCACGTGCCATCATCGAAAGTGACCAGGAGCAAGGTCGCAAGCTGAGGAGCACCATGCTGGAGCTGGAGA
AGCAAGGCCTGGAAGCCATGGAAGAAATCCTGACCAGCTCCGAGCCACTGGACCCTGCGGAAGTGGGGGACCTTTTCTATGACTGTGTTG
ACACGGAGATTAAGTTCTTTAAGTGAAGTAAGCGTTCCCTTTCCCCTTCTTATTTAAGACTTCCCACCTTACTAAATTACCAGCAAAACA
AACCACTCTCCTGTTTGAGTAAAATGAGAAAGTTAATATGTGGCCTCCTTTTCTGAAGCCAGATCAAACTGTTACCTTGTGTTCCACCTT
GAATCTCACAGCGTCCCCTTCTGCAATGTAGGTCTCCTTCCTGTGCAGTGTAACATGTATCCCGTTGCCTGTTGTTCGGTTGTGTGACTA
ATTGTGGATTTTAAGCTGCTATTATTGTATTTCAGTGGCAATGGACACATTAGCCTTTTACAAGAGGACTAGAGTTCATCAAGCCTTGAA
AGGCAGGCTTCACAGTGCCGAGTTGGCGGGAAAAGCAAATTCTTTTGAAGTCTTAGTCTTTCCCTCAGTAGCGGTTTCTTTCAGGTTAAC
AAGAGGCATTTGTGCACACACACAGGGCTCTTGTGTGTGTTGTCAAGGGGACCCTCCGTGGCCTCCCGTGAGTGCATGCCTGTAGTGCAC
AGTGTCTCTACAGGTGTCTTCTGGGGGGCAGAACCAATTGGAAGGAAGAAAGGGACCCCTCTCCAGTCCTGGCTCCTTCCTACATCCTGG
GCTCCTGAAGAAGCTGTCTTCCCATTTTCCATGCGCTGTGCTTATGTGTGGTGGACTGCAGAGCTGCTTCCACTTACAGGAGAGCTGATA
ATTTGTTAGCTGGAACCTATTCACTTCCGAGATTCAGACATAGCCATGCTGGTGGCCTTCTGAATCACTGCATGGATGTCCCAGGAGGCA
GCTCTCCCCACACAGCAGCACAGCCATCACAGGATTCCTTGTGTAGAAATGATTCCCAGTCTAGTTACCAACAGCTAGTCTAGGAGTAAT
TGAATGGCCCTATGGCACAGTTCCACCCACAGAGTAGTGAATCTCTCAGCCAAGGAGGGAAAGAAAAGGAAGAACTCTTGACTATTTAGA
TTCTAGTTAAATATCTGGAATCCTAGCAGTCACTACATTATCTCAGCAGAGAGACTTTAATTAAACTGATTTGTTTCCAATGTCGGGTTC
ACTTAAAGGATTTGACTTACCACCAGAGCATAGAAAAGCATGCAAGGAAGACCAGATGGGCTTAGCATTGGGAAGACAGAGGGCAAGGAG
GTGATAGATGGATATAGAAGCATTTCTCTGCAGGATACCAGTTCAGGCCCCACCATTCCTGCCAAGGCCATTACATCCCACAAACCCAAA
TACAAAGCAGCTGACTTCCCTGGATCTTCCCCCCACTCCTCACACCTCACATGTCCCAGGAGCTGCCTTCATTCAGGCGGGTAGCTGCAC
TGGGCATGGGGTGGTGGTGGGAGCTTACCGCCACCTATTCAAGCTCTCAGCTACTCCTGAAACGGGCAGAGATGATGAACAGAAGTGTAT
GTAAATACAGCAGCTAGTGGGAGAGCACCAGTTGGGCCTAATCCTGCCTCATCATTCTTGGCAGGAATCTGCAAATGGAAACATTGTGAG
TATCAGCAATCTGGGAAGTGACAGGGTTAATAACTCCTTCCCAGAAGCTGTATCATGAGATTTTGAGGGGACCGAGCCCTGTTACATGGA
TGTGAACAGTGAGGATCAGAGGTTTTATCAGAACACATTCTTTTTTTCTACCAACTCTCCAGAGCGTGAGTATAGGAGTGCCATGAGCTT
TTTAGTCAGCAGTTTTGTAAACTCTGTATATAAAATCATTAACCACACATTGTGGGTGATGGGAAGACGATTTCAGCTGACAGAGTTAAT
GGCAACCAATAATGGTGGCCTGTAGCTGCTAAGAGCTTCACGCAGGTTTGGCCTGGGCTTTCACTGTTGGTGAATTTAGAGTGTCCTTTT
AGGTGGGGCGGCTATTCTAAAAGTGTCTTTCTATCACTGTTAAGGGGGGGGGAAAGTGAGGTTCGAGGATGACGTAGGTAACTCTCCCCT
CCCAAGTCCATGTTCCAAGTGGCTATGTAAAGCAAGATGATACAGAAAGCTGCTCTAAAATCTCACTGAGTGATTTCACCTTCGCCTACT
ATGAAATGTCTCATCAGACCTGACATGTCTGAGATAACCAAGGTGATTCAGGATTTGATCAAAAGAAGTCTAGTAAGAATTAATTACACA
GAAGCCTCCTTTCATTTCTATGGGCCAAACAAAGGCCATGGATAACCCTACCCGCTTTATGTCATTACCCATTGGGAAACACAATGGCTA
CTTCTGTTAGGGTACATTGACCTTGGTCAAGCATCTTAAAGAAGGCAACCCTAATTGAGAGCTGTCTTGGCTAATACTCTGCACCACAAT
TGTGATGTCCTAGTCCTACCACTAGAGGGCATGGTACAGCCTGGCAAAAGTTAAAAGGGGTGTGGCAGCTCCCATCAGGTCTGGAGGTGG
TCTATAAGCACAGTTGACAGTTGTGCATTGGGATGGGTGGAGAAAGACGACAAGAGAGCAGAGAATCTGCTGATGTGGCTGCGCTTACTT
TTAGTGACTTTATGTACTTATATTAACAGCTGGAAATAGGTTGTTGGGTTTTGAGCAGGCTGTTATAGTGAGGAATGTTCATTTTTAAAT
GTTCCTAACAGATTTTGCTTTTGAAAAATGCTTGTTACATGAATAATTTGTGGACCAGGGATTGCTTTTCTGAAGGCAGTATAGGGAACA
TGAATATTCAAGATGAAATACAAAAATTATGTTTAAGGGTCATAGTGTATAAGTAGCTTCCTAGGAAACCCTTTGTGTATCTTTTCAGAC
TGGGGTGGGGGCTGAGCATGCTTGTGCAGAAAGAAGCCATAGCCAGAAAGGACAGAATCTCTCCCCCACTCCCTTGCCCCATAACCAAAC
ATAAGCTAGCTAGTCTTGTCTAATAGATGGGATTTACTATAGGTGAAGATAGCCCTCATATTCAAGGACAGAAGCTCTGGCAGGAGTAAA
TTAGCAAAGCAGAAATAGTACCCTTTCATTCTTGGAGGTGCTTTGAAATTTTAGGTAGAATATAATCGAAATTATGGAGGTTCCTTAGTG
CTCAATAATATAAGACCTGGTGTTATTAGAACGAGTCTTTCTTATAAACTAACAGAGCAGGTATATGCCTGTTAGACCTTAGCTGTGGGG
TTCCTTTACTATTGGGTGAATCATTAGGTATAAAAAATAATCATCAACCAGGCAAATTACTTTGCTTCCTAGCTGATGTCATCCCACATT
GGTACAGGTGTTATTCAGTACTGGGTGGTTCAGCAGGGAAGCCGGGTGGGACCAGTGTGTCTGTCATGAAACCACTAACTGCATTCCTGA
CTGAAGAGCCATCTGTCATTTATTGGGGAAGGTCTTCAGTTGAGCTCTCAGCCTTAGGAAGGAAGCACGTGGAGGAGGGACGGAGGAGGT
TCCCTTGCTGGGCATGCTTCGTAGAGGGCCAGGAGCAGCAGGTCATGTGCACATGCCGTTGCAGCACAAGCTTATGCTTCCCGTAGCCGT
GGCTTTTCATTCTGCACAGTCCCAGGTCCCAGCTCCCCTCTTATGGTTTCTGTCATAATGTGCTTTATCTGATTGACTCCAAACATCCCG
AAATGTCACCTGCAGATTTCTCGTGGGAACCAATATGTACATGTTTGCAATTATGCTGTGAGAATTTAAATGTGTTAGATGGAAAATGCT
ATTGGCAGGGAATAATAATAAAAAAAAAAGAAAATCATTCTGTTTCCTGCAGTGGGAACTGGCCATGTAGTCTTAACAGTCTTTTGTACA
AATATCTACAAAGCAGATAATATCCCTATCCAGTGCTTGCCCTTGGAATTGTCTCTAAATGCATCAAGCATACAATAAAAAAAACTGAAA

>22380_22380_1_DFNA5-SCRN1_DFNA5_chr7_24784181_ENST00000342947_SCRN1_chr7_29994978_ENST00000242059_length(amino acids)=453AA_BP=92
MVLAETQVPVFIPHPWRCTHRRPISESSGRGVGLCEIRGQVCKPREWNPGDCTGEGQAEPGGQQPRREPVFIWNPEEAGGGFAAAHQRLC
RECTYISIDQVPRTYAIMISRPAWLWGAEMGANEHGVCIANEAINTREPAAEIEALLGMDLVRLGLERGETAKEALDVIVSLLEEHGQGG
NYFEDANSCHSFQSAYLIVDRDEAWVLETIGKYWAAEKVTEGVRCICSQLSLTTKMDAEHPELRSYAQSQGWWTGEGEFNFSEVFSPVED
HLDCGAGKDSLEKQEESITVQTMMNTLRDKASGVCIDSEFFLTTASGVSVLPQNRSSPCIHYFTGTPDPSRSIFKPFIFVDDVKLVPKTQ
SPCFGDDDPAKKEPRFQEKPDRRHELYKAHEWARAIIESDQEQGRKLRSTMLELEKQGLEAMEEILTSSEPLDPAEVGDLFYDCVDTEIK

--------------------------------------------------------------
>22380_22380_2_DFNA5-SCRN1_DFNA5_chr7_24784181_ENST00000342947_SCRN1_chr7_29994978_ENST00000426154_length(transcript)=5769nt_BP=830nt
AGAAAGCAATGTTTGAGCACCAGCTATGCTGAGATTCCCTCGTTCAGTATTCGTTGAGCACCCAGTGTGTGAGAGCGCCTGGTTTTGCCC
TCAAGGAGCTTAGAGTGGAGTTTACAGGAATGAATCACTGATTAGCGGCAGGCCTAAGTGTGGGCACTGTCGCACCACACACCCAGATAC
TACTCCAGGCACGGGCATTAGGGGCTCCCACAGGCTGGACAGGCCTTGGACTTTCCTGGTTGAACCGTGAGGCCGCGGTGTCAGTCCACA
CTCCACTGTGGGTGGCGGGTTCGGCCCCGCGAGGAGGCGCCGCTCTCAAACCCCACGGTCCCGCGCAGCGAAGAGGCGAGGCGGCCGCGG
AAGGCAGGCGCAGCCCACTCTTCCCGAGAGGCCCCGACATCTCCCGGATAATCTGGAGCTTTCAAAATGTTTGCCAAAGCAACCAGGAAT
TTTCTTAGAGAAGTTGATGCTGATGGTGACCTGATTGCAGTATCAAATCTGAATGACTCTGATAAGTTACAGCTTCTAAGTCTGGTGACA
AAAAAGAAGAGATTCTGGTGCTGGCAGAGACCCAAGTACCAGTTTTTATCCCTCACCCTTGGCGATGTACTCATAGAAGACCAATTTCCG
AGTCCAGTGGTCGTGGAGTCGGACTTTGTGAAATACGAGGGCAAGTTTGCAAACCACGTGAGTGGAACCCTGGAGACTGCACTGGGGAAG
GTCAAGCTGAACCTGGGGGGCAGCAGCCGCGTAGAGAGCCAGTCTTCATTTGGAACCCTGAGGAAGCAGGAGGTGGATTTGCAGCAGCTC
ATCAGAGACTCTGCCGAGAGTGCACTTACATTTCAATCGACCAAGTTCCAAGGACCTATGCCATAATGATAAGCAGACCCGCCTGGCTCT
GGGGAGCAGAAATGGGAGCCAATGAACATGGAGTGTGCATAGCCAATGAAGCCATCAACACCAGAGAGCCAGCTGCCGAGATAGAAGCCT
TGCTGGGGATGGATCTGGTCAGGCTTGGTTTAGAAAGAGGGGAAACAGCTAAAGAAGCCTTAGATGTCATTGTCTCCTTGTTGGAAGAAC
ATGGACAAGGTGGGAATTACTTTGAAGATGCAAACTCCTGCCACAGCTTCCAAAGTGCATATCTGATTGTGGATCGTGATGAAGCCTGGG
TGCTCGAGACCATAGGGAAGTACTGGGCTGCCGAGAAAGTCACAGAGGGAGTGAGGTGCATTTGCAGTCAGCTTTCGCTCACCACTAAGA
TGGATGCAGAGCATCCGGAACTCAGGAGTTACGCTCAGAGCCAAGGTTGGTGGACGGGAGAGGGCGAGTTCAATTTTTCCGAAGTCTTTT
CTCCAGTTGAGGATCATCTAGACTGCGGTGCTGGCAAAGACAGCTTAGAAAAACAAGAAGAAAGCATCACAGTGCAGACTATGATGAACA
CCTTACGGGACAAAGCCAGCGGAGTGTGCATAGACTCTGAGTTTTTCCTCACCACAGCCAGTGGAGTGTCTGTCCTGCCGCAGAATAGAA
GCTCTCCGTGCATTCACTACTTCACTGGAACCCCTGATCCTTCCAGGTCCATATTCAAGCCTTTCATCTTTGTTGATGACGTAAAACTTG
TCCCCAAAACACAGTCTCCCTGTTTTGGGGATGACGACCCTGCCAAAAAGGAGCCTCGGTTCCAGGAGAAACCAGACCGCCGGCATGAGC
TGTACAAAGCCCACGAGTGGGCACGTGCCATCATCGAAAGTGACCAGGAGCAAGGTCGCAAGCTGAGGAGCACCATGCTGGAGCTGGAGA
AGCAAGGCCTGGAAGCCATGGAAGAAATCCTGACCAGCTCCGAGCCACTGGACCCTGCGGAAGTGGGGGACCTTTTCTATGACTGTGTTG
ACACGGAGATTAAGTTCTTTAAGTGAAGTAAGCGTTCCCTTTCCCCTTCTTATTTAAGACTTCCCACCTTACTAAATTACCAGCAAAACA
AACCACTCTCCTGTTTGAGTAAAATGAGAAAGTTAATATGTGGCCTCCTTTTCTGAAGCCAGATCAAACTGTTACCTTGTGTTCCACCTT
GAATCTCACAGCGTCCCCTTCTGCAATGTAGGTCTCCTTCCTGTGCAGTGTAACATGTATCCCGTTGCCTGTTGTTCGGTTGTGTGACTA
ATTGTGGATTTTAAGCTGCTATTATTGTATTTCAGTGGCAATGGACACATTAGCCTTTTACAAGAGGACTAGAGTTCATCAAGCCTTGAA
AGGCAGGCTTCACAGTGCCGAGTTGGCGGGAAAAGCAAATTCTTTTGAAGTCTTAGTCTTTCCCTCAGTAGCGGTTTCTTTCAGGTTAAC
AAGAGGCATTTGTGCACACACACAGGGCTCTTGTGTGTGTTGTCAAGGGGACCCTCCGTGGCCTCCCGTGAGTGCATGCCTGTAGTGCAC
AGTGTCTCTACAGGTGTCTTCTGGGGGGCAGAACCAATTGGAAGGAAGAAAGGGACCCCTCTCCAGTCCTGGCTCCTTCCTACATCCTGG
GCTCCTGAAGAAGCTGTCTTCCCATTTTCCATGCGCTGTGCTTATGTGTGGTGGACTGCAGAGCTGCTTCCACTTACAGGAGAGCTGATA
ATTTGTTAGCTGGAACCTATTCACTTCCGAGATTCAGACATAGCCATGCTGGTGGCCTTCTGAATCACTGCATGGATGTCCCAGGAGGCA
GCTCTCCCCACACAGCAGCACAGCCATCACAGGATTCCTTGTGTAGAAATGATTCCCAGTCTAGTTACCAACAGCTAGTCTAGGAGTAAT
TGAATGGCCCTATGGCACAGTTCCACCCACAGAGTAGTGAATCTCTCAGCCAAGGAGGGAAAGAAAAGGAAGAACTCTTGACTATTTAGA
TTCTAGTTAAATATCTGGAATCCTAGCAGTCACTACATTATCTCAGCAGAGAGACTTTAATTAAACTGATTTGTTTCCAATGTCGGGTTC
ACTTAAAGGATTTGACTTACCACCAGAGCATAGAAAAGCATGCAAGGAAGACCAGATGGGCTTAGCATTGGGAAGACAGAGGGCAAGGAG
GTGATAGATGGATATAGAAGCATTTCTCTGCAGGATACCAGTTCAGGCCCCACCATTCCTGCCAAGGCCATTACATCCCACAAACCCAAA
TACAAAGCAGCTGACTTCCCTGGATCTTCCCCCCACTCCTCACACCTCACATGTCCCAGGAGCTGCCTTCATTCAGGCGGGTAGCTGCAC
TGGGCATGGGGTGGTGGTGGGAGCTTACCGCCACCTATTCAAGCTCTCAGCTACTCCTGAAACGGGCAGAGATGATGAACAGAAGTGTAT
GTAAATACAGCAGCTAGTGGGAGAGCACCAGTTGGGCCTAATCCTGCCTCATCATTCTTGGCAGGAATCTGCAAATGGAAACATTGTGAG
TATCAGCAATCTGGGAAGTGACAGGGTTAATAACTCCTTCCCAGAAGCTGTATCATGAGATTTTGAGGGGACCGAGCCCTGTTACATGGA
TGTGAACAGTGAGGATCAGAGGTTTTATCAGAACACATTCTTTTTTTCTACCAACTCTCCAGAGCGTGAGTATAGGAGTGCCATGAGCTT
TTTAGTCAGCAGTTTTGTAAACTCTGTATATAAAATCATTAACCACACATTGTGGGTGATGGGAAGACGATTTCAGCTGACAGAGTTAAT
GGCAACCAATAATGGTGGCCTGTAGCTGCTAAGAGCTTCACGCAGGTTTGGCCTGGGCTTTCACTGTTGGTGAATTTAGAGTGTCCTTTT
AGGTGGGGCGGCTATTCTAAAAGTGTCTTTCTATCACTGTTAAGGGGGGGGGAAAGTGAGGTTCGAGGATGACGTAGGTAACTCTCCCCT
CCCAAGTCCATGTTCCAAGTGGCTATGTAAAGCAAGATGATACAGAAAGCTGCTCTAAAATCTCACTGAGTGATTTCACCTTCGCCTACT
ATGAAATGTCTCATCAGACCTGACATGTCTGAGATAACCAAGGTGATTCAGGATTTGATCAAAAGAAGTCTAGTAAGAATTAATTACACA
GAAGCCTCCTTTCATTTCTATGGGCCAAACAAAGGCCATGGATAACCCTACCCGCTTTATGTCATTACCCATTGGGAAACACAATGGCTA
CTTCTGTTAGGGTACATTGACCTTGGTCAAGCATCTTAAAGAAGGCAACCCTAATTGAGAGCTGTCTTGGCTAATACTCTGCACCACAAT
TGTGATGTCCTAGTCCTACCACTAGAGGGCATGGTACAGCCTGGCAAAAGTTAAAAGGGGTGTGGCAGCTCCCATCAGGTCTGGAGGTGG
TCTATAAGCACAGTTGACAGTTGTGCATTGGGATGGGTGGAGAAAGACGACAAGAGAGCAGAGAATCTGCTGATGTGGCTGCGCTTACTT
TTAGTGACTTTATGTACTTATATTAACAGCTGGAAATAGGTTGTTGGGTTTTGAGCAGGCTGTTATAGTGAGGAATGTTCATTTTTAAAT
GTTCCTAACAGATTTTGCTTTTGAAAAATGCTTGTTACATGAATAATTTGTGGACCAGGGATTGCTTTTCTGAAGGCAGTATAGGGAACA
TGAATATTCAAGATGAAATACAAAAATTATGTTTAAGGGTCATAGTGTATAAGTAGCTTCCTAGGAAACCCTTTGTGTATCTTTTCAGAC
TGGGGTGGGGGCTGAGCATGCTTGTGCAGAAAGAAGCCATAGCCAGAAAGGACAGAATCTCTCCCCCACTCCCTTGCCCCATAACCAAAC
ATAAGCTAGCTAGTCTTGTCTAATAGATGGGATTTACTATAGGTGAAGATAGCCCTCATATTCAAGGACAGAAGCTCTGGCAGGAGTAAA
TTAGCAAAGCAGAAATAGTACCCTTTCATTCTTGGAGGTGCTTTGAAATTTTAGGTAGAATATAATCGAAATTATGGAGGTTCCTTAGTG
CTCAATAATATAAGACCTGGTGTTATTAGAACGAGTCTTTCTTATAAACTAACAGAGCAGGTATATGCCTGTTAGACCTTAGCTGTGGGG
TTCCTTTACTATTGGGTGAATCATTAGGTATAAAAAATAATCATCAACCAGGCAAATTACTTTGCTTCCTAGCTGATGTCATCCCACATT
GGTACAGGTGTTATTCAGTACTGGGTGGTTCAGCAGGGAAGCCGGGTGGGACCAGTGTGTCTGTCATGAAACCACTAACTGCATTCCTGA
CTGAAGAGCCATCTGTCATTTATTGGGGAAGGTCTTCAGTTGAGCTCTCAGCCTTAGGAAGGAAGCACGTGGAGGAGGGACGGAGGAGGT
TCCCTTGCTGGGCATGCTTCGTAGAGGGCCAGGAGCAGCAGGTCATGTGCACATGCCGTTGCAGCACAAGCTTATGCTTCCCGTAGCCGT
GGCTTTTCATTCTGCACAGTCCCAGGTCCCAGCTCCCCTCTTATGGTTTCTGTCATAATGTGCTTTATCTGATTGACTCCAAACATCCCG
AAATGTCACCTGCAGATTTCTCGTGGGAACCAATATGTACATGTTTGCAATTATGCTGTGAGAATTTAAATGTGTTAGATGGAAAATGCT
ATTGGCAGGGAATAATAATAAAAAAAAAAGAAAATCATTCTGTTTCCTGCAGTGGGAACTGGCCATGTAGTCTTAACAGTCTTTTGTACA
AATATCTACAAAGCAGATAATATCCCTATCCAGTGCTTGCCCTTGGAATTGTCTCTAAATGCATCAAGCATACAATAAAAAAAACTGAAA

>22380_22380_2_DFNA5-SCRN1_DFNA5_chr7_24784181_ENST00000342947_SCRN1_chr7_29994978_ENST00000426154_length(amino acids)=453AA_BP=92
MVLAETQVPVFIPHPWRCTHRRPISESSGRGVGLCEIRGQVCKPREWNPGDCTGEGQAEPGGQQPRREPVFIWNPEEAGGGFAAAHQRLC
RECTYISIDQVPRTYAIMISRPAWLWGAEMGANEHGVCIANEAINTREPAAEIEALLGMDLVRLGLERGETAKEALDVIVSLLEEHGQGG
NYFEDANSCHSFQSAYLIVDRDEAWVLETIGKYWAAEKVTEGVRCICSQLSLTTKMDAEHPELRSYAQSQGWWTGEGEFNFSEVFSPVED
HLDCGAGKDSLEKQEESITVQTMMNTLRDKASGVCIDSEFFLTTASGVSVLPQNRSSPCIHYFTGTPDPSRSIFKPFIFVDDVKLVPKTQ
SPCFGDDDPAKKEPRFQEKPDRRHELYKAHEWARAIIESDQEQGRKLRSTMLELEKQGLEAMEEILTSSEPLDPAEVGDLFYDCVDTEIK

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Fusion Gene PPI Analysis for DFNA5-SCRN1


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 DFNA5-SCRN1


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 DFNA5-SCRN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human