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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:SPEN-EFHD2 (FusionGDB2 ID:85719)

Fusion Gene Summary for SPEN-EFHD2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPEN-EFHD2
Fusion gene ID: 85719
HgeneTgene
Gene symbol

SPEN

EFHD2

Gene ID

64783

79180

Gene nameRNA binding motif protein 15EF-hand domain family member D2
SynonymsOTT|OTT1|SPENSWS1
Cytomap

1p13.3

1p36.21

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1putative RNA-binding protein 15EF-hand domain-containing protein D2EF hand domain containing 2swiprosin 1testicular tissue protein Li 62
Modification date2020031320200313
UniProtAcc.

Q96C19

Ensembl transtripts involved in fusion geneENST00000375759, ENST00000471538, 
ENST00000375980, 
Fusion gene scores* DoF score20 X 12 X 15=36008 X 7 X 5=280
# samples 3110
** MAII scorelog2(31/3600*10)=-3.5376567859428
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPEN [Title/Abstract] AND EFHD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSPEN(16174645)-EFHD2(15752367), # samples:3
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

26575292

HgeneSPEN

GO:0001510

RNA methylation

27602518

HgeneSPEN

GO:0009048

dosage compensation by inactivation of X chromosome

27602518

HgeneSPEN

GO:0045652

regulation of megakaryocyte differentiation

26575292

HgeneSPEN

GO:0045892

negative regulation of transcription, DNA-templated

16129689


check buttonFusion gene breakpoints across SPEN (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 EFHD2 (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
ChimerDB4BLCATCGA-DK-A3X2-01ASPENchr1

16174645

-EFHD2chr1

15752367

+
ChimerDB4BLCATCGA-DK-A3X2-01ASPENchr1

16174645

+EFHD2chr1

15752367

+
ChimerDB4BLCATCGA-DK-A3X2SPENchr1

16174645

+EFHD2chr1

15752366

+


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Fusion Gene ORF analysis for SPEN-EFHD2

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
In-frameENST00000375759ENST00000375980SPENchr1

16174645

+EFHD2chr1

15752367

+
In-frameENST00000375759ENST00000375980SPENchr1

16174645

+EFHD2chr1

15752366

+
intron-3CDSENST00000471538ENST00000375980SPENchr1

16174645

+EFHD2chr1

15752367

+
intron-3CDSENST00000471538ENST00000375980SPENchr1

16174645

+EFHD2chr1

15752366

+

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)
ENST00000375759SPENchr116174645+ENST00000375980EFHD2chr115752367+23212871106327259
ENST00000375759SPENchr116174645+ENST00000375980EFHD2chr115752366+23212871106327259

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
ENST00000375759ENST00000375980SPENchr116174645+EFHD2chr115752367+0.0056709270.99432915
ENST00000375759ENST00000375980SPENchr116174645+EFHD2chr115752366+0.0056709270.99432915

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Fusion Genomic Features for SPEN-EFHD2


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)
SPENchr116174645+EFHD2chr115752366+1.10E-111
SPENchr116174645+EFHD2chr115752366+1.10E-111
SPENchr116174645+EFHD2chr115752366+1.10E-111
SPENchr116174645+EFHD2chr115752366+1.10E-111

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 SPEN-EFHD2


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/chr1:16174645/chr1:15752367)
- 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
.EFHD2

Q96C19

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: May regulate B-cell receptor (BCR)-induced immature and primary B-cell apoptosis. Plays a role as negative regulator of the canonical NF-kappa-B-activating branch. Controls spontaneous apoptosis through the regulation of BCL2L1 abundance. {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
TgeneEFHD2chr1:16174645chr1:15752366ENST0000037598004105_116102241.0Calcium binding1
TgeneEFHD2chr1:16174645chr1:15752366ENST0000037598004141_152102241.0Calcium binding2
TgeneEFHD2chr1:16174645chr1:15752367ENST0000037598004105_116102241.0Calcium binding1
TgeneEFHD2chr1:16174645chr1:15752367ENST0000037598004141_152102241.0Calcium binding2
TgeneEFHD2chr1:16174645chr1:15752366ENST0000037598004128_163102241.0DomainEF-hand 2
TgeneEFHD2chr1:16174645chr1:15752367ENST0000037598004128_163102241.0DomainEF-hand 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1151170_1191273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1151408_1428273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1151496_1529273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1151592_1612273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1151928_1944273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115688_715273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115977_1004273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1151170_1191273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1151408_1428273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1151496_1529273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1151592_1612273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1151928_1944273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115688_715273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115977_1004273665.0Coiled coilOntology_term=ECO:0000255
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115125_277273665.0Compositional biasNote=Arg-rich
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115240_325273665.0Compositional biasNote=Ser-rich
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1152428_2520273665.0Compositional biasNote=Pro-rich
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1153220_3482273665.0Compositional biasNote=Pro-rich
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115616_810273665.0Compositional biasNote=Arg-rich
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115624_697273665.0Compositional biasNote=Tyr-rich
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115125_277273665.0Compositional biasNote=Arg-rich
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115240_325273665.0Compositional biasNote=Ser-rich
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1152428_2520273665.0Compositional biasNote=Pro-rich
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1153220_3482273665.0Compositional biasNote=Pro-rich
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115616_810273665.0Compositional biasNote=Arg-rich
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115624_697273665.0Compositional biasNote=Tyr-rich
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1151_573273665.0DNA bindingOntology_term=ECO:0000250
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1151_573273665.0DNA bindingOntology_term=ECO:0000250
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1152201_2707273665.0DomainNote=RID
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115335_415273665.0DomainRRM 2
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1153498_3664273665.0DomainSPOC
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115438_513273665.0DomainRRM 3
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+115517_589273665.0DomainRRM 4
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1156_81273665.0DomainRRM 1
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1152201_2707273665.0DomainNote=RID
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115335_415273665.0DomainRRM 2
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1153498_3664273665.0DomainSPOC
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115438_513273665.0DomainRRM 3
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+115517_589273665.0DomainRRM 4
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1156_81273665.0DomainRRM 1
TgeneEFHD2chr1:16174645chr1:15752366ENST000003759800492_127102241.0DomainEF-hand 1
TgeneEFHD2chr1:16174645chr1:15752367ENST000003759800492_127102241.0DomainEF-hand 1


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Fusion Gene Sequence for SPEN-EFHD2


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.
>85719_85719_1_SPEN-EFHD2_SPEN_chr1_16174645_ENST00000375759_EFHD2_chr1_15752366_ENST00000375980_length(transcript)=2321nt_BP=287nt
TGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGC
CACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCG
GCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATC
ATCGAGCATTTCAAACGGTATGATGCCGGGCGGGACGGCTTCATCGACCTGATGGAGCTAAAACTCATGATGGAGAAACTTGGGGCCCCT
CAGACCCACCTGGGCCTGAAAAACATGATCAAGGAGGTGGATGAGGACTTTGACAGCAAGCTGAGCTTCCGGGAGTTCCTCCTGATCTTC
CGCAAGGCGGCGGCCGGGGAGCTTCAGGAGGACAGCGGGCTGTGCGTGCTGGCCCGCCTCTCTGAGATCGACGTCTCCAGTGAGGGTGTC
AAGGGGGCCAAGAGCTTCTTTGAGGCCAAGGTCCAGGCCATCAACGTGTCCAGCCGCTTCGAGGAGGAGATCAAGGCAGAGCAGGAGGAA
AGGAAGAAGCAGGCGGAGGAGATGAAGCAGCGGAAAGCGGCCTTCAAGGAGCTGCAGTCCACCTTTAAGTAGCGGGGGCTGCAGCCGACC
GCCCTGCTCCGGCCCCAGTGTGGTGGGCGAGGGTGGCGCATGGGAGGCCGAGCCTGAATCCTTGCCTGTGTCTGACGGGACCACTACTAA
AAACCTAAAAATATCTGTGAATGGAGCAAGTTCAGGGGTCTTATGGAGGTGGCCCGGCCCCTCCCCGCTCCCTTCCACTCTGCACGAGGC
CGCCACACCGGCGCTGGCTCCCTGCCCGGCCCGGCCCTCCCTGGCAATCCCTGGGCTCTCTTGCACCCCTAACTGCCCCCTGCCTGCTCC
GGCACTGCCCCAGGCCCAGCTCCTGGCCCTAGGTCCCTCCCAGCCCCATGTGCCTGCCGCCTGCCCTCCACACATCCCTGTCCCCCCAAC
CCGGGAACCCCTGCCCTCCTCCAGCAGGCCGCACCGCCCCTGGGGCCCCCTGCCAGCCCCTTCCCAGGCTGGGAGACGGCAGAAGAGATA
GAATCAGGGCTGCCCCCACAGAGTGGGACCCAAGGGGCTAATTGGAGGCACGAGGGGACCCCTCCCCAGGGCCTTTTCCTCCTCTGCGTC
TTCCATCTACTGAAATGGGAGAGGGGGTGGGGAGCTTCTGTTCTGGTGAAGGGACCCGGGCAGGCCCCCAGCACCCCATGCTGACTTGGA
GAACCCCAGATCTCTGGGGCCCAGCCAGGCAGGGTGTGGGGGCAGCTGTGCCAATCTACCTCACAGGCCCACCCCCTGCCGGGCATGCCG
TGGGATCATGGGCAGGGAAGGCTCTGGGGGTCGGAGACACCGCTGCTTAGCACCCCCAGCCAGAACACCCTGAGGGTCTCGGGGCTCTGG
AGAGAGTGGGGCGGGAGGAAGAATTGGCACCTTCCTAGGGAAGGAGACGAGCGCTTCGCCTTGATTCTCCGAGAAGCCTCCGAGAAGTGC
TTTAAGTGTGTTTGCATGCGCCAGGCGGTGGGCAGCGGGGGCCTGTCCAGCCCTCTCCCGCCATCCTTCCCCAAGTGACGTCCACTGCCT
TGTCACCAGCGACCTGCCTGTCATGCCCACCCCCTGAGGAAGCATGGGGACCCTAACACCCTGGTGCCCTGCACCAGACAGGCCGTGGTC
AGGCCCAGGCCACCGGCCGGGTTCTGCCACAGCTTCCCACGTGCTTGCTGACATGCGTGTGCCTGTGTGTGGTGTCTGTTGCTGTGTCGT
GAAACTGTGACCATCACTCAGTCCAAACAAGTGAGTGGCCCTCGAGGCCACAGTTATGCAACTTTCAGTGTGTGTCATAACGACGTCACT
GCTTTTTAAACTCGATAACTCTTTATTTTAGTAAAATGCCCAGGAGTCCTGGAAGCTACGCGGACTTGCAGAGGTTTTATTTTTTGGCCT
TAGAATCTGCAGAAATTAGGAGGCACCGAGCCCAGCGCAGCAGCCTCGGACCCGGATTGCGTTTGCCTTAGCGGATATGTTTATACAGAT
GAATATAAAATGTTTTTTTCTTTGGGCTTTTTGCTTCTTTTTTCCCCCCCTTCTCACCTTCCCTTCTCCCCGACCCCACCCCCCAAAAAA

>85719_85719_1_SPEN-EFHD2_SPEN_chr1_16174645_ENST00000375759_EFHD2_chr1_15752366_ENST00000375980_length(amino acids)=259AA_BP=
MLEEGRGSRVGGTGMCGGQAAGTWGWEGPRARSWAWGSAGAGRGQLGVQESPGIAREGRAGQGASAGVAASCRVEGSGEGPGHLHKTPEL
APFTDIFRFLVVVPSDTGKDSGSASHAPPSPTTLGPEQGGRLQPPLLKGGLQLLEGRFPLLHLLRLLLPFLLLCLDLLLEAAGHVDGLDL

--------------------------------------------------------------
>85719_85719_2_SPEN-EFHD2_SPEN_chr1_16174645_ENST00000375759_EFHD2_chr1_15752367_ENST00000375980_length(transcript)=2321nt_BP=287nt
TGAGCTGCGAGGCCCGAGAGTCAGAACCTGGGGGAGAGGGATGGTCTCTGCACGGGGGGGAGCCGGAGGAGCCGCCGCCGCTGCCGACGC
CACCGCCGCAGCCGCCGCCGCCGCCGCCCCGGCACCCGCCTCCCGGCGCTGACGGTCTCGTACGAAGCCGGCGAGGGGGAGCCAGCAGCG
GCGGTCGCCGGCACGCCGCCCAGCATGGTCCGGGAAACCAGGCATCTCTGGGTGGGCAACTTACCCGAGAACGTGCGGGAAGAGAAGATC
ATCGAGCATTTCAAACGGTATGATGCCGGGCGGGACGGCTTCATCGACCTGATGGAGCTAAAACTCATGATGGAGAAACTTGGGGCCCCT
CAGACCCACCTGGGCCTGAAAAACATGATCAAGGAGGTGGATGAGGACTTTGACAGCAAGCTGAGCTTCCGGGAGTTCCTCCTGATCTTC
CGCAAGGCGGCGGCCGGGGAGCTTCAGGAGGACAGCGGGCTGTGCGTGCTGGCCCGCCTCTCTGAGATCGACGTCTCCAGTGAGGGTGTC
AAGGGGGCCAAGAGCTTCTTTGAGGCCAAGGTCCAGGCCATCAACGTGTCCAGCCGCTTCGAGGAGGAGATCAAGGCAGAGCAGGAGGAA
AGGAAGAAGCAGGCGGAGGAGATGAAGCAGCGGAAAGCGGCCTTCAAGGAGCTGCAGTCCACCTTTAAGTAGCGGGGGCTGCAGCCGACC
GCCCTGCTCCGGCCCCAGTGTGGTGGGCGAGGGTGGCGCATGGGAGGCCGAGCCTGAATCCTTGCCTGTGTCTGACGGGACCACTACTAA
AAACCTAAAAATATCTGTGAATGGAGCAAGTTCAGGGGTCTTATGGAGGTGGCCCGGCCCCTCCCCGCTCCCTTCCACTCTGCACGAGGC
CGCCACACCGGCGCTGGCTCCCTGCCCGGCCCGGCCCTCCCTGGCAATCCCTGGGCTCTCTTGCACCCCTAACTGCCCCCTGCCTGCTCC
GGCACTGCCCCAGGCCCAGCTCCTGGCCCTAGGTCCCTCCCAGCCCCATGTGCCTGCCGCCTGCCCTCCACACATCCCTGTCCCCCCAAC
CCGGGAACCCCTGCCCTCCTCCAGCAGGCCGCACCGCCCCTGGGGCCCCCTGCCAGCCCCTTCCCAGGCTGGGAGACGGCAGAAGAGATA
GAATCAGGGCTGCCCCCACAGAGTGGGACCCAAGGGGCTAATTGGAGGCACGAGGGGACCCCTCCCCAGGGCCTTTTCCTCCTCTGCGTC
TTCCATCTACTGAAATGGGAGAGGGGGTGGGGAGCTTCTGTTCTGGTGAAGGGACCCGGGCAGGCCCCCAGCACCCCATGCTGACTTGGA
GAACCCCAGATCTCTGGGGCCCAGCCAGGCAGGGTGTGGGGGCAGCTGTGCCAATCTACCTCACAGGCCCACCCCCTGCCGGGCATGCCG
TGGGATCATGGGCAGGGAAGGCTCTGGGGGTCGGAGACACCGCTGCTTAGCACCCCCAGCCAGAACACCCTGAGGGTCTCGGGGCTCTGG
AGAGAGTGGGGCGGGAGGAAGAATTGGCACCTTCCTAGGGAAGGAGACGAGCGCTTCGCCTTGATTCTCCGAGAAGCCTCCGAGAAGTGC
TTTAAGTGTGTTTGCATGCGCCAGGCGGTGGGCAGCGGGGGCCTGTCCAGCCCTCTCCCGCCATCCTTCCCCAAGTGACGTCCACTGCCT
TGTCACCAGCGACCTGCCTGTCATGCCCACCCCCTGAGGAAGCATGGGGACCCTAACACCCTGGTGCCCTGCACCAGACAGGCCGTGGTC
AGGCCCAGGCCACCGGCCGGGTTCTGCCACAGCTTCCCACGTGCTTGCTGACATGCGTGTGCCTGTGTGTGGTGTCTGTTGCTGTGTCGT
GAAACTGTGACCATCACTCAGTCCAAACAAGTGAGTGGCCCTCGAGGCCACAGTTATGCAACTTTCAGTGTGTGTCATAACGACGTCACT
GCTTTTTAAACTCGATAACTCTTTATTTTAGTAAAATGCCCAGGAGTCCTGGAAGCTACGCGGACTTGCAGAGGTTTTATTTTTTGGCCT
TAGAATCTGCAGAAATTAGGAGGCACCGAGCCCAGCGCAGCAGCCTCGGACCCGGATTGCGTTTGCCTTAGCGGATATGTTTATACAGAT
GAATATAAAATGTTTTTTTCTTTGGGCTTTTTGCTTCTTTTTTCCCCCCCTTCTCACCTTCCCTTCTCCCCGACCCCACCCCCCAAAAAA

>85719_85719_2_SPEN-EFHD2_SPEN_chr1_16174645_ENST00000375759_EFHD2_chr1_15752367_ENST00000375980_length(amino acids)=259AA_BP=
MLEEGRGSRVGGTGMCGGQAAGTWGWEGPRARSWAWGSAGAGRGQLGVQESPGIAREGRAGQGASAGVAASCRVEGSGEGPGHLHKTPEL
APFTDIFRFLVVVPSDTGKDSGSASHAPPSPTTLGPEQGGRLQPPLLKGGLQLLEGRFPLLHLLRLLLPFLLLCLDLLLEAAGHVDGLDL

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

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Fusion Gene PPI Analysis for SPEN-EFHD2


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
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1152130_246427.6666666666666683665.0MSX2
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1152130_246427.6666666666666683665.0MSX2
HgeneSPENchr1:16174645chr1:15752366ENST00000375759+1152709_287027.6666666666666683665.0RBPSUH
HgeneSPENchr1:16174645chr1:15752367ENST00000375759+1152709_287027.6666666666666683665.0RBPSUH


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 SPEN-EFHD2


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 SPEN-EFHD2


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