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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:DIAPH1-BRIX1 (FusionGDB2 ID:HG1729TG55299)

Fusion Gene Summary for DIAPH1-BRIX1

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH1-BRIX1
Fusion gene ID: hg1729tg55299
HgeneTgene
Gene symbol

DIAPH1

BRIX1

Gene ID

1729

55299

Gene namediaphanous related formin 1biogenesis of ribosomes BRX1
SynonymsDFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1BRIX|BXDC2
Cytomap('DIAPH1')('BRIX1')

5q31.3

5p13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 1ribosome biogenesis protein BRX1 homologBRX1, biogenesis of ribosomes, homologbrix domain containing 2brix domain-containing protein 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000253811, ENST00000389054, 
ENST00000389057, ENST00000398557, 
ENST00000398562, ENST00000398566, 
ENST00000518047, ENST00000520569, 
ENST00000494967, 
Fusion gene scores* DoF score6 X 6 X 5=1802 X 2 X 2=8
# samples 72
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: DIAPH1 [Title/Abstract] AND BRIX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH1(140963691)-BRIX1(34924952), # samples:1
Anticipated loss of major functional domain due to fusion event.DIAPH1-BRIX1 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.
DIAPH1-BRIX1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

check buttonFusion gene breakpoints across DIAPH1 (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 BRIX1 (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
ChimerDB4BRCATCGA-EW-A1P4-01ADIAPH1chr5

140963691

-BRIX1chr5

34924952

+


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Fusion Gene ORF analysis for DIAPH1-BRIX1

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
5CDS-3UTRENST00000253811ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000389054ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000389057ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000398557ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000398562ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000398566ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000518047ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
5CDS-3UTRENST00000520569ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000253811ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000389054ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000389057ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000398557ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000398562ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000398566ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000518047ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
In-frameENST00000520569ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
intron-3CDSENST00000494967ENST00000336767DIAPH1chr5

140963691

-BRIX1chr5

34924952

+
intron-3UTRENST00000494967ENST00000506023DIAPH1chr5

140963691

-BRIX1chr5

34924952

+

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)
ENST00000389054DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+144354387941284
ENST00000520569DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+11582580656218
ENST00000253811DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+144354387941284
ENST00000398566DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+141651687914275
ENST00000398562DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+141651687914275
ENST00000398557DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+144354387941284
ENST00000389057DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+141651687914275
ENST00000518047DIAPH1chr5140963691-ENST00000336767BRIX1chr534924952+12753750773257

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
ENST00000389054ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0032825980.9967174
ENST00000520569ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0047481640.9952518
ENST00000253811ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0032825980.9967174
ENST00000398566ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0029862330.9970138
ENST00000398562ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0029862330.9970138
ENST00000398557ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0032825980.9967174
ENST00000389057ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0029862330.9970138
ENST00000518047ENST00000336767DIAPH1chr5140963691-BRIX1chr534924952+0.0022437350.9977563

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Fusion Genomic Features for DIAPH1-BRIX1


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)
DIAPH1chr5140963690-BRIX1chr534924951+8.62E-070.99999917
DIAPH1chr5140963690-BRIX1chr534924951+8.62E-070.99999917

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.
genomic feature of top 1%

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Fusion Protein Features for DIAPH1-BRIX1


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/chr5:140963691/chr5:34924952)
- 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
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-3271039_11961251264.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-327468_5721251264.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-4281039_11961341273.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-428468_5721341273.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-3271213_12161251264.0Compositional biasNote=Arg/Lys-rich (basic)
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-4281213_12161341273.0Compositional biasNote=Arg/Lys-rich (basic)
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-3271194_12221251264.0DomainDAD
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-327583_7641251264.0DomainNote=FH1
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-327769_11711251264.0DomainFH2
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000389057-32784_4491251264.0DomainGBD/FH3
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-4281194_12221341273.0DomainDAD
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-428583_7641341273.0DomainNote=FH1
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-428769_11711341273.0DomainFH2
HgeneDIAPH1chr5:140963691chr5:34924952ENST00000398557-42884_4491341273.0DomainGBD/FH3
TgeneBRIX1chr5:140963691chr5:34924952ENST0000033676771060_249221354.0DomainBrix


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Fusion Gene Sequence for DIAPH1-BRIX1


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.
>22739_22739_1_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000253811_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1443nt_BP=543nt
ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTG
CCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG
ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTACTCTGAAGCGG
CTCATGGCAGATGAGCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCA
TCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATG
AACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAG
GCTATCATAGAAGAAGATGCTGCTCTTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGA
CCAACTTTATATGAAAATCCTCACTACCAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAA
CAGCAAGTGAAAGATGTGCAAAAACTGAGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCA
GCTGAGGAGAAACCAATAGAAATACAGTGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAA
AGAAAAATGAAACAGAGGATGGACAGTGGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGT
ATTCAATGTGTAAATACTTTTATTATCTAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAAT
CAGTGATTATCTTTTTCTAAATAAAATATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAG
CACACTTAATGTAGCCTGTTCTCTTGGGTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAA
AGCATTCAACACTTCAAGAGCATCGGTTGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGT
CATCAGTTAATGAAGCCATGGAAGAACCAACCCCTGATCTGTCACTTCAAAAAAGAGTATATTAAAATGTTGAGGTTTTGAGAATCAAAT

>22739_22739_1_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000253811_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=284AA_BP=152
MPGGSGVGAGSPASVNRDMEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSS
ASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFG
GPTLYENPHYQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKR

--------------------------------------------------------------
>22739_22739_2_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000389054_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1443nt_BP=543nt
ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTG
CCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG
ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTACTCTGAAGCGG
CTCATGGCAGATGAGCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCA
TCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATG
AACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAG
GCTATCATAGAAGAAGATGCTGCTCTTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGA
CCAACTTTATATGAAAATCCTCACTACCAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAA
CAGCAAGTGAAAGATGTGCAAAAACTGAGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCA
GCTGAGGAGAAACCAATAGAAATACAGTGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAA
AGAAAAATGAAACAGAGGATGGACAGTGGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGT
ATTCAATGTGTAAATACTTTTATTATCTAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAAT
CAGTGATTATCTTTTTCTAAATAAAATATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAG
CACACTTAATGTAGCCTGTTCTCTTGGGTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAA
AGCATTCAACACTTCAAGAGCATCGGTTGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGT
CATCAGTTAATGAAGCCATGGAAGAACCAACCCCTGATCTGTCACTTCAAAAAAGAGTATATTAAAATGTTGAGGTTTTGAGAATCAAAT

>22739_22739_2_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000389054_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=284AA_BP=152
MPGGSGVGAGSPASVNRDMEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSS
ASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFG
GPTLYENPHYQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKR

--------------------------------------------------------------
>22739_22739_3_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000389057_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1416nt_BP=516nt
ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTG
CCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG
ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTCTGGAGAGATTT
ACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGATCCCACAGCACAG
TCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCT
TTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTATCATAGAAGAAGATGCTGCTCTT
GTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGACCAACTTTATATGAAAATCCTCACTAC
CAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAACAGCAAGTGAAAGATGTGCAAAAACTG
AGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCAGCTGAGGAGAAACCAATAGAAATACAG
TGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAAAGAAAAATGAAACAGAGGATGGACAGT
GGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGTATTCAATGTGTAAATACTTTTATTATC
TAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAATCAGTGATTATCTTTTTCTAAATAAAAT
ATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAGCACACTTAATGTAGCCTGTTCTCTTGG
GTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAAAGCATTCAACACTTCAAGAGCATCGGT
TGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGTCATCAGTTAATGAAGCCATGGAAGAAC

>22739_22739_3_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000389057_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=275AA_BP=143
MPGGSGVGAGSPASVNRDMEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTA
QSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFGGPTLYENPH
YQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKRQRKMKQRMD

--------------------------------------------------------------
>22739_22739_4_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000398557_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1443nt_BP=543nt
ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTG
CCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG
ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTACTCTGAAGCGG
CTCATGGCAGATGAGCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCA
TCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATG
AACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAG
GCTATCATAGAAGAAGATGCTGCTCTTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGA
CCAACTTTATATGAAAATCCTCACTACCAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAA
CAGCAAGTGAAAGATGTGCAAAAACTGAGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCA
GCTGAGGAGAAACCAATAGAAATACAGTGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAA
AGAAAAATGAAACAGAGGATGGACAGTGGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGT
ATTCAATGTGTAAATACTTTTATTATCTAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAAT
CAGTGATTATCTTTTTCTAAATAAAATATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAG
CACACTTAATGTAGCCTGTTCTCTTGGGTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAA
AGCATTCAACACTTCAAGAGCATCGGTTGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGT
CATCAGTTAATGAAGCCATGGAAGAACCAACCCCTGATCTGTCACTTCAAAAAAGAGTATATTAAAATGTTGAGGTTTTGAGAATCAAAT

>22739_22739_4_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000398557_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=284AA_BP=152
MPGGSGVGAGSPASVNRDMEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSS
ASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFG
GPTLYENPHYQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKR

--------------------------------------------------------------
>22739_22739_5_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000398562_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1416nt_BP=516nt
ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTG
CCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG
ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTCTGGAGAGATTT
ACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGATCCCACAGCACAG
TCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCT
TTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTATCATAGAAGAAGATGCTGCTCTT
GTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGACCAACTTTATATGAAAATCCTCACTAC
CAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAACAGCAAGTGAAAGATGTGCAAAAACTG
AGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCAGCTGAGGAGAAACCAATAGAAATACAG
TGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAAAGAAAAATGAAACAGAGGATGGACAGT
GGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGTATTCAATGTGTAAATACTTTTATTATC
TAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAATCAGTGATTATCTTTTTCTAAATAAAAT
ATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAGCACACTTAATGTAGCCTGTTCTCTTGG
GTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAAAGCATTCAACACTTCAAGAGCATCGGT
TGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGTCATCAGTTAATGAAGCCATGGAAGAAC

>22739_22739_5_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000398562_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=275AA_BP=143
MPGGSGVGAGSPASVNRDMEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTA
QSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFGGPTLYENPH
YQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKRQRKMKQRMD

--------------------------------------------------------------
>22739_22739_6_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000398566_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1416nt_BP=516nt
ATTCATGAGGCGCGCGCAGCCCGGCATGCTAATGAGGCGGGGCGCGGCGGCTGGCTAAAGAGCGACTGGGCGGCGGCGGGCGCGGAGCTG
CCAGGCGGGAGCGGCGTAGGCGCGGGGTCGCCGGCCAGCGTGAACCGGGACATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGG
ACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGCGGCGACGGCGGCAAATCTAAGAAATTTCTGGAGAGATTT
ACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGATCCCACAGCACAG
TCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCT
TTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTATCATAGAAGAAGATGCTGCTCTT
GTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGACCAACTTTATATGAAAATCCTCACTAC
CAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAACAGCAAGTGAAAGATGTGCAAAAACTG
AGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCAGCTGAGGAGAAACCAATAGAAATACAG
TGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAAAGAAAAATGAAACAGAGGATGGACAGT
GGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGTATTCAATGTGTAAATACTTTTATTATC
TAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAATCAGTGATTATCTTTTTCTAAATAAAAT
ATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAGCACACTTAATGTAGCCTGTTCTCTTGG
GTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAAAGCATTCAACACTTCAAGAGCATCGGT
TGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGTCATCAGTTAATGAAGCCATGGAAGAAC

>22739_22739_6_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000398566_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=275AA_BP=143
MPGGSGVGAGSPASVNRDMEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTA
QSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFGGPTLYENPH
YQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKPIEIQWVKPEPKVDLKARKKRIYKRQRKMKQRMD

--------------------------------------------------------------
>22739_22739_7_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000518047_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1275nt_BP=375nt
ATGGAGCCGCCCGGCGGGAGCCTGGGGCCCGGCCGCGGGACCCGGGACAAGAAGAAGGGCCGGAGCCCAGATGAGCTGCCCTCGGCGGGC
GGCGACGGCGGCAAATCTAAGAAATTTCTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGA
AATTCTTCTGCATCATATGGGGATGATCCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATG
CTGCTGGATATGAACCTGAATGAGGAGAAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTG
TACACCTCCAAGGCTATCATAGAAGAAGATGCTGCTCTTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGA
AGTTTTGGAGGACCAACTTTATATGAAAATCCTCACTACCAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAA
TACAGAGAGAAACAGCAAGTGAAAGATGTGCAAAAACTGAGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTT
TTTGTAACACCAGCTGAGGAGAAACCAATAGAAATACAGTGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATT
TACAAAAGGCAAAGAAAAATGAAACAGAGGATGGACAGTGGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTA
TATTTATTTTGTATTCAATGTGTAAATACTTTTATTATCTAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTA
AGATCTTAAAATCAGTGATTATCTTTTTCTAAATAAAATATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTG
CTAAAAATGTAGCACACTTAATGTAGCCTGTTCTCTTGGGTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCAT
ATTATTTGTAAAAGCATTCAACACTTCAAGAGCATCGGTTGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGA
AGTTTACTCAGTCATCAGTTAATGAAGCCATGGAAGAACCAACCCCTGATCTGTCACTTCAAAAAAGAGTATATTAAAATGTTGAGGTTT

>22739_22739_7_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000518047_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=257AA_BP=125
MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQM
LLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEEDAALVEIGPRFVLNLIKIFQGSFGGPTLYENPHYQSPNMHRRVIRSITAAK

--------------------------------------------------------------
>22739_22739_8_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000520569_BRIX1_chr5_34924952_ENST00000336767_length(transcript)=1158nt_BP=258nt
CTGGAGAGATTTACCAGCATGAGAATTAAGAAGGAGAAGGAAAAGCCCAATTCTGCTCATAGAAATTCTTCTGCATCATATGGGGATGAT
CCCACAGCACAGTCATTGCAAGATGTTTCAGATGAACAAGTGCTGGTTCTCTTTGAACAGATGCTGCTGGATATGAACCTGAATGAGGAG
AAACAGCAACCTTTGAGGGAGAAGGACATCATCATCAAGAGGGAGATGGTGTCCCAATACTTGTACACCTCCAAGGCTATCATAGAAGAA
GATGCTGCTCTTGTAGAAATAGGACCTCGTTTTGTCTTAAATCTCATAAAGATTTTCCAGGGAAGTTTTGGAGGACCAACTTTATATGAA
AATCCTCACTACCAGTCACCAAACATGCATCGGCGTGTCATAAGATCCATCACAGCTGCAAAATACAGAGAGAAACAGCAAGTGAAAGAT
GTGCAAAAACTGAGAAAGAAAGAGCCGAAGACTCTTCTTCCACATGATCCCACTGCAGATGTTTTTGTAACACCAGCTGAGGAGAAACCA
ATAGAAATACAGTGGGTAAAACCAGAGCCAAAAGTTGATTTGAAAGCAAGAAAGAAACGGATTTACAAAAGGCAAAGAAAAATGAAACAG
AGGATGGACAGTGGGAAAACAAAATAAGTCAATGGAAACCTGATTTGTTTTTCAGTTACTTTATATTTATTTTGTATTCAATGTGTAAAT
ACTTTTATTATCTAATACTATCTTACGTCTAATTAGTGTAGCATTTACAAGAAAGAAAAATTAAGATCTTAAAATCAGTGATTATCTTTT
TCTAAATAAAATATCACCAGAATTCATCAGTTAATTTCTGATTTCTTTTTGAAGTTTGTGTTGCTAAAAATGTAGCACACTTAATGTAGC
CTGTTCTCTTGGGTTGGAATTTTTGGTTTAGCAAAGCTGAAATTCAGACATTTATTAGGTCATATTATTTGTAAAAGCATTCAACACTTC
AAGAGCATCGGTTGTGGATGGTAAAGTAGGAGTAGACTGGTAGAAAGGAAGGCATCTCACTGAAGTTTACTCAGTCATCAGTTAATGAAG

>22739_22739_8_DIAPH1-BRIX1_DIAPH1_chr5_140963691_ENST00000520569_BRIX1_chr5_34924952_ENST00000336767_length(amino acids)=218AA_BP=86
LERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAIIEE
DAALVEIGPRFVLNLIKIFQGSFGGPTLYENPHYQSPNMHRRVIRSITAAKYREKQQVKDVQKLRKKEPKTLLPHDPTADVFVTPAEEKP

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

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Fusion Gene PPI Analysis for DIAPH1-BRIX1


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 DIAPH1-BRIX1


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 DIAPH1-BRIX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIAPH1C1852282DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)10CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDIAPH1C4225261SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME4CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDIAPH1C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneDIAPH1C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneDIAPH1C1384666hearing impairment1GENOMICS_ENGLAND
HgeneDIAPH1C3714756Intellectual Disability1GENOMICS_ENGLAND