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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:DIAPH2-F8 (FusionGDB2 ID:HG1730TG2157)

Fusion Gene Summary for DIAPH2-F8

check button Fusion gene summary
Fusion gene informationFusion gene name: DIAPH2-F8
Fusion gene ID: hg1730tg2157
HgeneTgene
Gene symbol

DIAPH2

F8

Gene ID

1730

2157

Gene namediaphanous related formin 2coagulation factor VIII
SynonymsDIA|DIA2|DRF2|POF|POF2|POF2AAHF|DXS1253E|F8B|F8C|FVIII|HEMA
Cytomap('DIAPH2')('F8')

Xq21.33

Xq28

Type of geneprotein-codingprotein-coding
Descriptionprotein diaphanous homolog 2diaphanous homolog 2diaphorase-2coagulation factor VIIIantihemophilic factorcoagulation factor VIII A1 domaincoagulation factor VIII C2 domaincoagulation factor VIII, procoagulant componentcoagulation factor VIIIcfactor VIII F8B
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000324765, ENST00000355827, 
ENST00000373049, ENST00000373054, 
ENST00000373061, 
Fusion gene scores* DoF score17 X 16 X 7=19045 X 5 X 5=125
# samples 185
** MAII scorelog2(18/1904*10)=-3.40296466697827
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DIAPH2 [Title/Abstract] AND F8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDIAPH2(96013257)-F8(154066027), # samples:2
Anticipated loss of major functional domain due to fusion event.DIAPH2-F8 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.
DIAPH2-F8 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.
DIAPH2-F8 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.
DIAPH2-F8 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.
DIAPH2-F8 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DIAPH2-F8 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
DIAPH2-F8 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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

check buttonFusion gene breakpoints across DIAPH2 (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 F8 (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
ChimerDB4LGGTCGA-HT-7470-01ADIAPH2chrX

96013257

-F8chrX

154066027

-
ChimerDB4LGGTCGA-HT-7470-01ADIAPH2chrX

96013257

+F8chrX

154066027

-


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Fusion Gene ORF analysis for DIAPH2-F8

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-intronENST00000324765ENST00000483822DIAPH2chrX

96013257

+F8chrX

154066027

-
5CDS-intronENST00000355827ENST00000483822DIAPH2chrX

96013257

+F8chrX

154066027

-
5CDS-intronENST00000373049ENST00000483822DIAPH2chrX

96013257

+F8chrX

154066027

-
5CDS-intronENST00000373054ENST00000483822DIAPH2chrX

96013257

+F8chrX

154066027

-
5CDS-intronENST00000373061ENST00000483822DIAPH2chrX

96013257

+F8chrX

154066027

-
Frame-shiftENST00000324765ENST00000330287DIAPH2chrX

96013257

+F8chrX

154066027

-
Frame-shiftENST00000355827ENST00000330287DIAPH2chrX

96013257

+F8chrX

154066027

-
Frame-shiftENST00000373049ENST00000330287DIAPH2chrX

96013257

+F8chrX

154066027

-
Frame-shiftENST00000373054ENST00000330287DIAPH2chrX

96013257

+F8chrX

154066027

-
Frame-shiftENST00000373054ENST00000360256DIAPH2chrX

96013257

+F8chrX

154066027

-
Frame-shiftENST00000373061ENST00000330287DIAPH2chrX

96013257

+F8chrX

154066027

-
In-frameENST00000324765ENST00000360256DIAPH2chrX

96013257

+F8chrX

154066027

-
In-frameENST00000355827ENST00000360256DIAPH2chrX

96013257

+F8chrX

154066027

-
In-frameENST00000373049ENST00000360256DIAPH2chrX

96013257

+F8chrX

154066027

-
In-frameENST00000373061ENST00000360256DIAPH2chrX

96013257

+F8chrX

154066027

-

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)
ENST00000355827DIAPH2chrX96013257+ENST00000360256F8chrX154066027-2801843396998200
ENST00000373061DIAPH2chrX96013257+ENST00000360256F8chrX154066027-2801843396998200
ENST00000373049DIAPH2chrX96013257+ENST00000360256F8chrX154066027-2752794347949200
ENST00000324765DIAPH2chrX96013257+ENST00000360256F8chrX154066027-2752794347949200

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
ENST00000355827ENST00000360256DIAPH2chrX96013257+F8chrX154066027-0.001202040.9987979
ENST00000373061ENST00000360256DIAPH2chrX96013257+F8chrX154066027-0.001202040.9987979
ENST00000373049ENST00000360256DIAPH2chrX96013257+F8chrX154066027-0.0011933950.9988066
ENST00000324765ENST00000360256DIAPH2chrX96013257+F8chrX154066027-0.0011933950.9988066

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Fusion Genomic Features for DIAPH2-F8


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 DIAPH2-F8


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/chrX:96013257/chrX:154066027)
- 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
TgeneF8chrX:96013257chrX:154066027ENST00000330287351713_1877165217.0DomainNote=Plastocyanin-like 5
TgeneF8chrX:96013257chrX:154066027ENST00000330287351713_2040165217.0DomainNote=F5/8 type A 3
TgeneF8chrX:96013257chrX:154066027ENST00000330287351887_2040165217.0DomainNote=Plastocyanin-like 6
TgeneF8chrX:96013257chrX:154066027ENST0000033028735206_348165217.0DomainNote=Plastocyanin-like 2
TgeneF8chrX:96013257chrX:154066027ENST0000033028735399_573165217.0DomainNote=Plastocyanin-like 3
TgeneF8chrX:96013257chrX:154066027ENST0000033028735399_730165217.0DomainNote=F5/8 type A 2
TgeneF8chrX:96013257chrX:154066027ENST0000033028735583_730165217.0DomainNote=Plastocyanin-like 4
TgeneF8chrX:96013257chrX:154066027ENST0000033028735760_1667165217.0RegionNote=B

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427366_4181491102.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427487_5471491102.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427903_10531491102.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427366_4181491097.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427487_5471491097.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427903_10531491097.0Coiled coilOntology_term=ECO:0000255
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+4271038_10411491102.0Compositional biasNote=Poly-Lys
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+4271072_10751491102.0Compositional biasNote=Arg/Lys-rich (basic)
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427257_2601491102.0Compositional biasNote=Poly-Leu
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427543_5461491102.0Compositional biasNote=Poly-Ser
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427562_5721491102.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427576_5851491102.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427591_5971491102.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427603_6081491102.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427613_6161491102.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+4271038_10411491097.0Compositional biasNote=Poly-Lys
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+4271072_10751491097.0Compositional biasNote=Arg/Lys-rich (basic)
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427257_2601491097.0Compositional biasNote=Poly-Leu
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427543_5461491097.0Compositional biasNote=Poly-Ser
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427562_5721491097.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427576_5851491097.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427591_5971491097.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427603_6081491097.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427613_6161491097.0Compositional biasNote=Poly-Pro
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+4271051_10811491102.0DomainDAD
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427549_6231491102.0DomainNote=FH1
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+427628_10281491102.0DomainFH2
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000324765+42798_4641491102.0DomainGBD/FH3
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+4271051_10811491097.0DomainDAD
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427549_6231491097.0DomainNote=FH1
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+427628_10281491097.0DomainFH2
HgeneDIAPH2chrX:96013257chrX:154066027ENST00000373049+42798_4641491097.0DomainGBD/FH3
TgeneF8chrX:96013257chrX:154066027ENST000003302873520_198165217.0DomainNote=Plastocyanin-like 1
TgeneF8chrX:96013257chrX:154066027ENST000003302873520_348165217.0DomainNote=F5/8 type A 1
TgeneF8chrX:96013257chrX:154066027ENST0000036025624261713_187723002352.0DomainNote=Plastocyanin-like 5
TgeneF8chrX:96013257chrX:154066027ENST0000036025624261713_204023002352.0DomainNote=F5/8 type A 3
TgeneF8chrX:96013257chrX:154066027ENST0000036025624261887_204023002352.0DomainNote=Plastocyanin-like 6
TgeneF8chrX:96013257chrX:154066027ENST000003602562426206_34823002352.0DomainNote=Plastocyanin-like 2
TgeneF8chrX:96013257chrX:154066027ENST00000360256242620_19823002352.0DomainNote=Plastocyanin-like 1
TgeneF8chrX:96013257chrX:154066027ENST00000360256242620_34823002352.0DomainNote=F5/8 type A 1
TgeneF8chrX:96013257chrX:154066027ENST000003602562426399_57323002352.0DomainNote=Plastocyanin-like 3
TgeneF8chrX:96013257chrX:154066027ENST000003602562426399_73023002352.0DomainNote=F5/8 type A 2
TgeneF8chrX:96013257chrX:154066027ENST000003602562426583_73023002352.0DomainNote=Plastocyanin-like 4
TgeneF8chrX:96013257chrX:154066027ENST000003602562426760_166723002352.0RegionNote=B


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Fusion Gene Sequence for DIAPH2-F8


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.
>22751_22751_1_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000324765_F8_chrX_154066027_ENST00000360256_length(transcript)=2752nt_BP=794nt
GGGCACTTTGAAGAATCACGTGTGTTGAGGCCCTCTTAAAGAGATAGGCACCTACTTTTCCCTCCACCCTAAACACCGCCCTGAGGGCGG
CGGCGACCGTGGTAATTGCAACTGCTCAGGGGCAGGGCTTGCCCCAGCGCCGAGTAGTGGCAACGGCGTGGTTGCGTCGGGGGTGCCTGG
GAGCCTGGAGTCCCGGGGGCCTGAAATCGGCAGCTTCCCGGGCAGACACTCTCTCCCTCAGGAAGAGGTGCCGCCGAGTCAGCGCGGGGC
AGTGTGAGCGCCCCGAGGTGCTTTCTCAGTTGAGGAGAGGTGGGGTTACAGGGCACAGGTGACAGGGCCGGAGAAAGATGGAGCAGCCCG
GGGCGGCGGCGTCGGGAGCGGGAGGCGGCAGCGAGGAACCCGGTGGGGGCCGGAGCAACAAGCGGAGCGCGGGGAACCGGGCCGCCAATG
AAGAGGAAACGAAAAACAAACCCAAATTGAACATTCAAATAAAAACTTTGGCAGATGATGTGCGTGACCGAATTACAAGTTTTAGAAAAT
CTACTGTCAAAAAAGAAAAACCTCTTATTCAACATCCTATTGATTCTCAAGTCGCGATGAGTGAGTTTCCTGCAGCTCAGCCATTATATG
ATGAACGATCTTTGAATTTGTCAGAAAAGGAAGTATTGGATCTCTTTGAAAAAATGATGGAGGACATGAACCTTAACGAAGAGAAAAAAG
CTCCTTTACGAAACAAAGACTTTACCACCAAACGTGAGATGGTTGTCCAGTATATTTCTGCCACTGCCAAATCTGTTTTTCAGGGAAATC
AAGACTCCTTCACACCTGTGGTGAACTCTCTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGA
TTGCCCTGAGGATGGAGGTTCTGGGCTGCGAGGCACAGGACCTCTACTGAGGGTGGCCACTGCAGCACCTGCCACTGCCGTCACCTCTCC
CTCCTCAGCTCCAGGGCAGTGTCCCTCCCTGGCTTGCCTTCTACCTTTGTGCTAAATCCTAGCAGACACTGCCTTGAAGCCTCCTGAATT
AACTATCATCAGTCCTGCATTTCTTTGGTGGGGGGCCAGGAGGGTGCATCCAATTTAACTTAACTCTTACCTATTTTCTGCAGCTGCTCC
CAGATTACTCCTTCCTTCCAATATAACTAGGCAAAAAGAAGTGAGGAGAAACCTGCATGAAAGCATTCTTCCCTGAAAAGTTAGGCCTCT
CAGAGTCACCACTTCCTCTGTTGTAGAAAAACTATGTGATGAAACTTTGAAAAAGATATTTATGATGTTAACATTTCAGGTTAAGCCTCA
TACGTTTAAAATAAAACTCTCAGTTGTTTATTATCCTGATCAAGCATGGAACAAAGCATGTTTCAGGATCAGATCAATACAATCTTGGAG
TCAAAAGGCAAATCATTTGGACAATCTGCAAAATGGAGAGAATACAATAACTACTACAGTAAAGTCTGTTTCTGCTTCCTTACACATAGA
TATAATTATGTTATTTAGTCATTATGAGGGGCACATTCTTATCTCCAAAACTAGCATTCTTAAACTGAGAATTATAGATGGGGTTCAAGA
ATCCCTAAGTCCCCTGAAATTATATAAGGCATTCTGTATAAATGCAAATGTGCATTTTTCTGACGAGTGTCCATAGATATAAAGCCATTT
GGTCTTAATTCTGACCAATAAAAAAATAAGTCAGGAGGATGCAATTGTTGAAAGCTTTGAAATAAAATAACAATGTCTTCTTGAAATTTG
TGATGGCCAAGAAAGAAAATGATGATGACATTAGGCTTCTAAAGGACATACATTTAATATTTCTGTGGAAATATGAGGAAAATCCATGGT
TATCTGAGATAGGAGATACAAACTTTGTAATTCTAATAATGCACTCAGTTTACTCTCTCCCTCTACTAATTTCCTGCTGAAAATAACACA
ACAAAAATGTAACAGGGGAAATTATATACCGTGACTGAAAACTAGAGTCCTACTTACATAGTTGAAATATCAAGGAGGTCAGAAGAAAAT
TGGACTGGTGAAAACAGAAAAAACACTCCAGTCTGCCATATCACCACACAATAGGATCCCCCTTCTTGCCCTCCACCCCCATAAGATTGT
GAAGGGTTTACTGCTCCTTCCATCTGCCTGACCCCTTCACTATGACTACACAGAATCTCCTGATAGTAAAGGGGGCTGGAGACAAGGATA
AGTTATAGAGCAGTTGGAGGAAGCATCCAAAGATTGCAACCCAGGGCAAATGGAAAACAGGAGATCCTAATATGAAAGAAAAATGGATCC
CAATCTGAGAAAAGGCAAAAGAATGGCTACTTTTTTCTATGCTGGAGTATTTTCTAATAATCCTGCTTGACCCTTATCTGACCTCTTTGG
AAACTATAACATAGCTGTCACAGTATAGTCACAATCCACAAATGATGCAGGTGCAAATGGTTTATAGCCCTGTGAAGTTCTTAAAGTTTA
GAGGCTAACTTACAGAAATGAATAAGTTGTTTTGTTTTATAGCCCGGTAGAGGAGTTAACCCCAAAGGTGATATGGTTTTATTTCCTGTT
ATGTTTAACTTGATAATCTTATTTTGGCATTCTTTTCCCATTGACTATATACATCTCTATTTCTCAAATGTTCATGGAACTAGCTCTTTT

>22751_22751_1_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000324765_F8_chrX_154066027_ENST00000360256_length(amino acids)=200AA_BP=149
MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKEKPLIQHPIDSQVAMSEFPAA
QPLYDERSLNLSEKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQS

--------------------------------------------------------------
>22751_22751_2_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000355827_F8_chrX_154066027_ENST00000360256_length(transcript)=2801nt_BP=843nt
CTCGGCTGCGGGAGTAGGAAGCAGCTTTGCGCGCCCGGGCGGCCGATGCGGGCACTTTGAAGAATCACGTGTGTTGAGGCCCTCTTAAAG
AGATAGGCACCTACTTTTCCCTCCACCCTAAACACCGCCCTGAGGGCGGCGGCGACCGTGGTAATTGCAACTGCTCAGGGGCAGGGCTTG
CCCCAGCGCCGAGTAGTGGCAACGGCGTGGTTGCGTCGGGGGTGCCTGGGAGCCTGGAGTCCCGGGGGCCTGAAATCGGCAGCTTCCCGG
GCAGACACTCTCTCCCTCAGGAAGAGGTGCCGCCGAGTCAGCGCGGGGCAGTGTGAGCGCCCCGAGGTGCTTTCTCAGTTGAGGAGAGGT
GGGGTTACAGGGCACAGGTGACAGGGCCGGAGAAAGATGGAGCAGCCCGGGGCGGCGGCGTCGGGAGCGGGAGGCGGCAGCGAGGAACCC
GGTGGGGGCCGGAGCAACAAGCGGAGCGCGGGGAACCGGGCCGCCAATGAAGAGGAAACGAAAAACAAACCCAAATTGAACATTCAAATA
AAAACTTTGGCAGATGATGTGCGTGACCGAATTACAAGTTTTAGAAAATCTACTGTCAAAAAAGAAAAACCTCTTATTCAACATCCTATT
GATTCTCAAGTCGCGATGAGTGAGTTTCCTGCAGCTCAGCCATTATATGATGAACGATCTTTGAATTTGTCAGAAAAGGAAGTATTGGAT
CTCTTTGAAAAAATGATGGAGGACATGAACCTTAACGAAGAGAAAAAAGCTCCTTTACGAAACAAAGACTTTACCACCAAACGTGAGATG
GTTGTCCAGTATATTTCTGCCACTGCCAAATCTGTTTTTCAGGGAAATCAAGACTCCTTCACACCTGTGGTGAACTCTCTAGACCCACCG
TTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGATTGCCCTGAGGATGGAGGTTCTGGGCTGCGAGGCACAGGAC
CTCTACTGAGGGTGGCCACTGCAGCACCTGCCACTGCCGTCACCTCTCCCTCCTCAGCTCCAGGGCAGTGTCCCTCCCTGGCTTGCCTTC
TACCTTTGTGCTAAATCCTAGCAGACACTGCCTTGAAGCCTCCTGAATTAACTATCATCAGTCCTGCATTTCTTTGGTGGGGGGCCAGGA
GGGTGCATCCAATTTAACTTAACTCTTACCTATTTTCTGCAGCTGCTCCCAGATTACTCCTTCCTTCCAATATAACTAGGCAAAAAGAAG
TGAGGAGAAACCTGCATGAAAGCATTCTTCCCTGAAAAGTTAGGCCTCTCAGAGTCACCACTTCCTCTGTTGTAGAAAAACTATGTGATG
AAACTTTGAAAAAGATATTTATGATGTTAACATTTCAGGTTAAGCCTCATACGTTTAAAATAAAACTCTCAGTTGTTTATTATCCTGATC
AAGCATGGAACAAAGCATGTTTCAGGATCAGATCAATACAATCTTGGAGTCAAAAGGCAAATCATTTGGACAATCTGCAAAATGGAGAGA
ATACAATAACTACTACAGTAAAGTCTGTTTCTGCTTCCTTACACATAGATATAATTATGTTATTTAGTCATTATGAGGGGCACATTCTTA
TCTCCAAAACTAGCATTCTTAAACTGAGAATTATAGATGGGGTTCAAGAATCCCTAAGTCCCCTGAAATTATATAAGGCATTCTGTATAA
ATGCAAATGTGCATTTTTCTGACGAGTGTCCATAGATATAAAGCCATTTGGTCTTAATTCTGACCAATAAAAAAATAAGTCAGGAGGATG
CAATTGTTGAAAGCTTTGAAATAAAATAACAATGTCTTCTTGAAATTTGTGATGGCCAAGAAAGAAAATGATGATGACATTAGGCTTCTA
AAGGACATACATTTAATATTTCTGTGGAAATATGAGGAAAATCCATGGTTATCTGAGATAGGAGATACAAACTTTGTAATTCTAATAATG
CACTCAGTTTACTCTCTCCCTCTACTAATTTCCTGCTGAAAATAACACAACAAAAATGTAACAGGGGAAATTATATACCGTGACTGAAAA
CTAGAGTCCTACTTACATAGTTGAAATATCAAGGAGGTCAGAAGAAAATTGGACTGGTGAAAACAGAAAAAACACTCCAGTCTGCCATAT
CACCACACAATAGGATCCCCCTTCTTGCCCTCCACCCCCATAAGATTGTGAAGGGTTTACTGCTCCTTCCATCTGCCTGACCCCTTCACT
ATGACTACACAGAATCTCCTGATAGTAAAGGGGGCTGGAGACAAGGATAAGTTATAGAGCAGTTGGAGGAAGCATCCAAAGATTGCAACC
CAGGGCAAATGGAAAACAGGAGATCCTAATATGAAAGAAAAATGGATCCCAATCTGAGAAAAGGCAAAAGAATGGCTACTTTTTTCTATG
CTGGAGTATTTTCTAATAATCCTGCTTGACCCTTATCTGACCTCTTTGGAAACTATAACATAGCTGTCACAGTATAGTCACAATCCACAA
ATGATGCAGGTGCAAATGGTTTATAGCCCTGTGAAGTTCTTAAAGTTTAGAGGCTAACTTACAGAAATGAATAAGTTGTTTTGTTTTATA
GCCCGGTAGAGGAGTTAACCCCAAAGGTGATATGGTTTTATTTCCTGTTATGTTTAACTTGATAATCTTATTTTGGCATTCTTTTCCCAT
TGACTATATACATCTCTATTTCTCAAATGTTCATGGAACTAGCTCTTTTATTTTCCTGCTGGTTTCTTCAGTAATGAGTTAAATAAAACA

>22751_22751_2_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000355827_F8_chrX_154066027_ENST00000360256_length(amino acids)=200AA_BP=149
MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKEKPLIQHPIDSQVAMSEFPAA
QPLYDERSLNLSEKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQS

--------------------------------------------------------------
>22751_22751_3_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000373049_F8_chrX_154066027_ENST00000360256_length(transcript)=2752nt_BP=794nt
GGGCACTTTGAAGAATCACGTGTGTTGAGGCCCTCTTAAAGAGATAGGCACCTACTTTTCCCTCCACCCTAAACACCGCCCTGAGGGCGG
CGGCGACCGTGGTAATTGCAACTGCTCAGGGGCAGGGCTTGCCCCAGCGCCGAGTAGTGGCAACGGCGTGGTTGCGTCGGGGGTGCCTGG
GAGCCTGGAGTCCCGGGGGCCTGAAATCGGCAGCTTCCCGGGCAGACACTCTCTCCCTCAGGAAGAGGTGCCGCCGAGTCAGCGCGGGGC
AGTGTGAGCGCCCCGAGGTGCTTTCTCAGTTGAGGAGAGGTGGGGTTACAGGGCACAGGTGACAGGGCCGGAGAAAGATGGAGCAGCCCG
GGGCGGCGGCGTCGGGAGCGGGAGGCGGCAGCGAGGAACCCGGTGGGGGCCGGAGCAACAAGCGGAGCGCGGGGAACCGGGCCGCCAATG
AAGAGGAAACGAAAAACAAACCCAAATTGAACATTCAAATAAAAACTTTGGCAGATGATGTGCGTGACCGAATTACAAGTTTTAGAAAAT
CTACTGTCAAAAAAGAAAAACCTCTTATTCAACATCCTATTGATTCTCAAGTCGCGATGAGTGAGTTTCCTGCAGCTCAGCCATTATATG
ATGAACGATCTTTGAATTTGTCAGAAAAGGAAGTATTGGATCTCTTTGAAAAAATGATGGAGGACATGAACCTTAACGAAGAGAAAAAAG
CTCCTTTACGAAACAAAGACTTTACCACCAAACGTGAGATGGTTGTCCAGTATATTTCTGCCACTGCCAAATCTGTTTTTCAGGGAAATC
AAGACTCCTTCACACCTGTGGTGAACTCTCTAGACCCACCGTTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGA
TTGCCCTGAGGATGGAGGTTCTGGGCTGCGAGGCACAGGACCTCTACTGAGGGTGGCCACTGCAGCACCTGCCACTGCCGTCACCTCTCC
CTCCTCAGCTCCAGGGCAGTGTCCCTCCCTGGCTTGCCTTCTACCTTTGTGCTAAATCCTAGCAGACACTGCCTTGAAGCCTCCTGAATT
AACTATCATCAGTCCTGCATTTCTTTGGTGGGGGGCCAGGAGGGTGCATCCAATTTAACTTAACTCTTACCTATTTTCTGCAGCTGCTCC
CAGATTACTCCTTCCTTCCAATATAACTAGGCAAAAAGAAGTGAGGAGAAACCTGCATGAAAGCATTCTTCCCTGAAAAGTTAGGCCTCT
CAGAGTCACCACTTCCTCTGTTGTAGAAAAACTATGTGATGAAACTTTGAAAAAGATATTTATGATGTTAACATTTCAGGTTAAGCCTCA
TACGTTTAAAATAAAACTCTCAGTTGTTTATTATCCTGATCAAGCATGGAACAAAGCATGTTTCAGGATCAGATCAATACAATCTTGGAG
TCAAAAGGCAAATCATTTGGACAATCTGCAAAATGGAGAGAATACAATAACTACTACAGTAAAGTCTGTTTCTGCTTCCTTACACATAGA
TATAATTATGTTATTTAGTCATTATGAGGGGCACATTCTTATCTCCAAAACTAGCATTCTTAAACTGAGAATTATAGATGGGGTTCAAGA
ATCCCTAAGTCCCCTGAAATTATATAAGGCATTCTGTATAAATGCAAATGTGCATTTTTCTGACGAGTGTCCATAGATATAAAGCCATTT
GGTCTTAATTCTGACCAATAAAAAAATAAGTCAGGAGGATGCAATTGTTGAAAGCTTTGAAATAAAATAACAATGTCTTCTTGAAATTTG
TGATGGCCAAGAAAGAAAATGATGATGACATTAGGCTTCTAAAGGACATACATTTAATATTTCTGTGGAAATATGAGGAAAATCCATGGT
TATCTGAGATAGGAGATACAAACTTTGTAATTCTAATAATGCACTCAGTTTACTCTCTCCCTCTACTAATTTCCTGCTGAAAATAACACA
ACAAAAATGTAACAGGGGAAATTATATACCGTGACTGAAAACTAGAGTCCTACTTACATAGTTGAAATATCAAGGAGGTCAGAAGAAAAT
TGGACTGGTGAAAACAGAAAAAACACTCCAGTCTGCCATATCACCACACAATAGGATCCCCCTTCTTGCCCTCCACCCCCATAAGATTGT
GAAGGGTTTACTGCTCCTTCCATCTGCCTGACCCCTTCACTATGACTACACAGAATCTCCTGATAGTAAAGGGGGCTGGAGACAAGGATA
AGTTATAGAGCAGTTGGAGGAAGCATCCAAAGATTGCAACCCAGGGCAAATGGAAAACAGGAGATCCTAATATGAAAGAAAAATGGATCC
CAATCTGAGAAAAGGCAAAAGAATGGCTACTTTTTTCTATGCTGGAGTATTTTCTAATAATCCTGCTTGACCCTTATCTGACCTCTTTGG
AAACTATAACATAGCTGTCACAGTATAGTCACAATCCACAAATGATGCAGGTGCAAATGGTTTATAGCCCTGTGAAGTTCTTAAAGTTTA
GAGGCTAACTTACAGAAATGAATAAGTTGTTTTGTTTTATAGCCCGGTAGAGGAGTTAACCCCAAAGGTGATATGGTTTTATTTCCTGTT
ATGTTTAACTTGATAATCTTATTTTGGCATTCTTTTCCCATTGACTATATACATCTCTATTTCTCAAATGTTCATGGAACTAGCTCTTTT

>22751_22751_3_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000373049_F8_chrX_154066027_ENST00000360256_length(amino acids)=200AA_BP=149
MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKEKPLIQHPIDSQVAMSEFPAA
QPLYDERSLNLSEKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQS

--------------------------------------------------------------
>22751_22751_4_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000373061_F8_chrX_154066027_ENST00000360256_length(transcript)=2801nt_BP=843nt
CTCGGCTGCGGGAGTAGGAAGCAGCTTTGCGCGCCCGGGCGGCCGATGCGGGCACTTTGAAGAATCACGTGTGTTGAGGCCCTCTTAAAG
AGATAGGCACCTACTTTTCCCTCCACCCTAAACACCGCCCTGAGGGCGGCGGCGACCGTGGTAATTGCAACTGCTCAGGGGCAGGGCTTG
CCCCAGCGCCGAGTAGTGGCAACGGCGTGGTTGCGTCGGGGGTGCCTGGGAGCCTGGAGTCCCGGGGGCCTGAAATCGGCAGCTTCCCGG
GCAGACACTCTCTCCCTCAGGAAGAGGTGCCGCCGAGTCAGCGCGGGGCAGTGTGAGCGCCCCGAGGTGCTTTCTCAGTTGAGGAGAGGT
GGGGTTACAGGGCACAGGTGACAGGGCCGGAGAAAGATGGAGCAGCCCGGGGCGGCGGCGTCGGGAGCGGGAGGCGGCAGCGAGGAACCC
GGTGGGGGCCGGAGCAACAAGCGGAGCGCGGGGAACCGGGCCGCCAATGAAGAGGAAACGAAAAACAAACCCAAATTGAACATTCAAATA
AAAACTTTGGCAGATGATGTGCGTGACCGAATTACAAGTTTTAGAAAATCTACTGTCAAAAAAGAAAAACCTCTTATTCAACATCCTATT
GATTCTCAAGTCGCGATGAGTGAGTTTCCTGCAGCTCAGCCATTATATGATGAACGATCTTTGAATTTGTCAGAAAAGGAAGTATTGGAT
CTCTTTGAAAAAATGATGGAGGACATGAACCTTAACGAAGAGAAAAAAGCTCCTTTACGAAACAAAGACTTTACCACCAAACGTGAGATG
GTTGTCCAGTATATTTCTGCCACTGCCAAATCTGTTTTTCAGGGAAATCAAGACTCCTTCACACCTGTGGTGAACTCTCTAGACCCACCG
TTACTGACTCGCTACCTTCGAATTCACCCCCAGAGTTGGGTGCACCAGATTGCCCTGAGGATGGAGGTTCTGGGCTGCGAGGCACAGGAC
CTCTACTGAGGGTGGCCACTGCAGCACCTGCCACTGCCGTCACCTCTCCCTCCTCAGCTCCAGGGCAGTGTCCCTCCCTGGCTTGCCTTC
TACCTTTGTGCTAAATCCTAGCAGACACTGCCTTGAAGCCTCCTGAATTAACTATCATCAGTCCTGCATTTCTTTGGTGGGGGGCCAGGA
GGGTGCATCCAATTTAACTTAACTCTTACCTATTTTCTGCAGCTGCTCCCAGATTACTCCTTCCTTCCAATATAACTAGGCAAAAAGAAG
TGAGGAGAAACCTGCATGAAAGCATTCTTCCCTGAAAAGTTAGGCCTCTCAGAGTCACCACTTCCTCTGTTGTAGAAAAACTATGTGATG
AAACTTTGAAAAAGATATTTATGATGTTAACATTTCAGGTTAAGCCTCATACGTTTAAAATAAAACTCTCAGTTGTTTATTATCCTGATC
AAGCATGGAACAAAGCATGTTTCAGGATCAGATCAATACAATCTTGGAGTCAAAAGGCAAATCATTTGGACAATCTGCAAAATGGAGAGA
ATACAATAACTACTACAGTAAAGTCTGTTTCTGCTTCCTTACACATAGATATAATTATGTTATTTAGTCATTATGAGGGGCACATTCTTA
TCTCCAAAACTAGCATTCTTAAACTGAGAATTATAGATGGGGTTCAAGAATCCCTAAGTCCCCTGAAATTATATAAGGCATTCTGTATAA
ATGCAAATGTGCATTTTTCTGACGAGTGTCCATAGATATAAAGCCATTTGGTCTTAATTCTGACCAATAAAAAAATAAGTCAGGAGGATG
CAATTGTTGAAAGCTTTGAAATAAAATAACAATGTCTTCTTGAAATTTGTGATGGCCAAGAAAGAAAATGATGATGACATTAGGCTTCTA
AAGGACATACATTTAATATTTCTGTGGAAATATGAGGAAAATCCATGGTTATCTGAGATAGGAGATACAAACTTTGTAATTCTAATAATG
CACTCAGTTTACTCTCTCCCTCTACTAATTTCCTGCTGAAAATAACACAACAAAAATGTAACAGGGGAAATTATATACCGTGACTGAAAA
CTAGAGTCCTACTTACATAGTTGAAATATCAAGGAGGTCAGAAGAAAATTGGACTGGTGAAAACAGAAAAAACACTCCAGTCTGCCATAT
CACCACACAATAGGATCCCCCTTCTTGCCCTCCACCCCCATAAGATTGTGAAGGGTTTACTGCTCCTTCCATCTGCCTGACCCCTTCACT
ATGACTACACAGAATCTCCTGATAGTAAAGGGGGCTGGAGACAAGGATAAGTTATAGAGCAGTTGGAGGAAGCATCCAAAGATTGCAACC
CAGGGCAAATGGAAAACAGGAGATCCTAATATGAAAGAAAAATGGATCCCAATCTGAGAAAAGGCAAAAGAATGGCTACTTTTTTCTATG
CTGGAGTATTTTCTAATAATCCTGCTTGACCCTTATCTGACCTCTTTGGAAACTATAACATAGCTGTCACAGTATAGTCACAATCCACAA
ATGATGCAGGTGCAAATGGTTTATAGCCCTGTGAAGTTCTTAAAGTTTAGAGGCTAACTTACAGAAATGAATAAGTTGTTTTGTTTTATA
GCCCGGTAGAGGAGTTAACCCCAAAGGTGATATGGTTTTATTTCCTGTTATGTTTAACTTGATAATCTTATTTTGGCATTCTTTTCCCAT
TGACTATATACATCTCTATTTCTCAAATGTTCATGGAACTAGCTCTTTTATTTTCCTGCTGGTTTCTTCAGTAATGAGTTAAATAAAACA

>22751_22751_4_DIAPH2-F8_DIAPH2_chrX_96013257_ENST00000373061_F8_chrX_154066027_ENST00000360256_length(amino acids)=200AA_BP=149
MEQPGAAASGAGGGSEEPGGGRSNKRSAGNRAANEEETKNKPKLNIQIKTLADDVRDRITSFRKSTVKKEKPLIQHPIDSQVAMSEFPAA
QPLYDERSLNLSEKEVLDLFEKMMEDMNLNEEKKAPLRNKDFTTKREMVVQYISATAKSVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQS

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

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Fusion Gene PPI Analysis for DIAPH2-F8


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 DIAPH2-F8


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 DIAPH2-F8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDIAPH2C1845293Premature Ovarian Failure 2a1CTD_human;GENOMICS_ENGLAND
TgeneC0019069Hemophilia A91CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3494186Autosomal Hemophilia A2CTD_human
TgeneC3494187Factor VIII Deficiency2CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0042487Venous Thrombosis1CTD_human
TgeneC0149871Deep Vein Thrombosis1CTD_human
TgeneC0272325Factor 8 deficiency, acquired1CTD_human
TgeneC0398623Thrombophilia1CTD_human