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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:DEAF1-SH3GL1 (FusionGDB2 ID:HG10522TG6455)

Fusion Gene Summary for DEAF1-SH3GL1

check button Fusion gene summary
Fusion gene informationFusion gene name: DEAF1-SH3GL1
Fusion gene ID: hg10522tg6455
HgeneTgene
Gene symbol

DEAF1

SH3GL1

Gene ID

10522

6455

Gene nameDEAF1 transcription factorSH3 domain containing GRB2 like 1, endophilin A2
SynonymsMRD24|NUDR|SPN|ZMYND5CNSA1|EEN|SH3D2B|SH3P8
Cytomap('DEAF1')('SH3GL1')

11p15.5

19p13.3

Type of geneprotein-codingprotein-coding
Descriptiondeformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5endophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene protein
Modification date2020031320200313
UniProtAcc.

Q99961

Ensembl transtripts involved in fusion geneENST00000382409, ENST00000338675, 
ENST00000525904, 
Fusion gene scores* DoF score6 X 5 X 4=12010 X 6 X 9=540
# samples 810
** MAII scorelog2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/540*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DEAF1 [Title/Abstract] AND SH3GL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDEAF1(686858)-SH3GL1(4366991), # samples:2
Anticipated loss of major functional domain due to fusion event.DEAF1-SH3GL1 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.
DEAF1-SH3GL1 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.
DEAF1-SH3GL1 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.
DEAF1-SH3GL1 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
HgeneDEAF1

GO:0000122

negative regulation of transcription by RNA polymerase II

24726472

HgeneDEAF1

GO:0033599

regulation of mammary gland epithelial cell proliferation

18826651

HgeneDEAF1

GO:0045892

negative regulation of transcription, DNA-templated

24726472

HgeneDEAF1

GO:0045893

positive regulation of transcription, DNA-templated

24726472


check buttonFusion gene breakpoints across DEAF1 (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 SH3GL1 (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
ChimerDB4BLCATCGA-XF-AAMZ-01ADEAF1chr11

686858

-SH3GL1chr19

4366991

-
ChimerDB4BLCATCGA-XF-AAMZDEAF1chr11

686858

-SH3GL1chr19

4366991

-


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Fusion Gene ORF analysis for DEAF1-SH3GL1

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-frameENST00000382409ENST00000269886DEAF1chr11

686858

-SH3GL1chr19

4366991

-
In-frameENST00000382409ENST00000417295DEAF1chr11

686858

-SH3GL1chr19

4366991

-
In-frameENST00000382409ENST00000598564DEAF1chr11

686858

-SH3GL1chr19

4366991

-
intron-3CDSENST00000338675ENST00000269886DEAF1chr11

686858

-SH3GL1chr19

4366991

-
intron-3CDSENST00000338675ENST00000417295DEAF1chr11

686858

-SH3GL1chr19

4366991

-
intron-3CDSENST00000338675ENST00000598564DEAF1chr11

686858

-SH3GL1chr19

4366991

-
intron-3CDSENST00000525904ENST00000269886DEAF1chr11

686858

-SH3GL1chr19

4366991

-
intron-3CDSENST00000525904ENST00000417295DEAF1chr11

686858

-SH3GL1chr19

4366991

-
intron-3CDSENST00000525904ENST00000598564DEAF1chr11

686858

-SH3GL1chr19

4366991

-

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)
ENST00000382409DEAF1chr11686858-ENST00000269886SH3GL1chr194366991-358112894852350621
ENST00000382409DEAF1chr11686858-ENST00000598564SH3GL1chr194366991-338812894852158557
ENST00000382409DEAF1chr11686858-ENST00000417295SH3GL1chr194366991-249112894852206573

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
ENST00000382409ENST00000269886DEAF1chr11686858-SH3GL1chr194366991-0.0128777790.98712224
ENST00000382409ENST00000598564DEAF1chr11686858-SH3GL1chr194366991-0.0123204650.9876795
ENST00000382409ENST00000417295DEAF1chr11686858-SH3GL1chr194366991-0.0102770530.98972297

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Fusion Genomic Features for DEAF1-SH3GL1


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 DEAF1-SH3GL1


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/chr11:686858/chr19:4366991)
- 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
.SH3GL1

Q99961

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: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (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
HgeneDEAF1chr11:686858chr19:4366991ENST00000382409-5122_122268566.0Compositional biasNote=Ala-rich
TgeneSH3GL1chr11:686858chr19:4366991ENST00000269886010145_25015369.0Coiled coilOntology_term=ECO:0000255
TgeneSH3GL1chr11:686858chr19:4366991ENST0000041729509145_25015321.0Coiled coilOntology_term=ECO:0000255
TgeneSH3GL1chr11:686858chr19:4366991ENST00000598564010145_25015305.0Coiled coilOntology_term=ECO:0000255
TgeneSH3GL1chr11:686858chr19:4366991ENST0000026988601018_24915369.0DomainBAR
TgeneSH3GL1chr11:686858chr19:4366991ENST00000269886010306_36515369.0DomainSH3
TgeneSH3GL1chr11:686858chr19:4366991ENST000004172950918_24915321.0DomainBAR
TgeneSH3GL1chr11:686858chr19:4366991ENST0000041729509306_36515321.0DomainSH3
TgeneSH3GL1chr11:686858chr19:4366991ENST0000059856401018_24915305.0DomainBAR
TgeneSH3GL1chr11:686858chr19:4366991ENST00000598564010306_36515305.0DomainSH3
TgeneSH3GL1chr11:686858chr19:4366991ENST0000026988601060_8715369.0RegionRequired for dimerization upon membrane association
TgeneSH3GL1chr11:686858chr19:4366991ENST000004172950960_8715321.0RegionRequired for dimerization upon membrane association
TgeneSH3GL1chr11:686858chr19:4366991ENST0000059856401060_8715305.0RegionRequired for dimerization upon membrane association

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDEAF1chr11:686858chr19:4366991ENST00000338675-1112_1220491.0Compositional biasNote=Ala-rich
HgeneDEAF1chr11:686858chr19:4366991ENST00000338675-111383_4390491.0Compositional biasNote=Pro-rich
HgeneDEAF1chr11:686858chr19:4366991ENST00000382409-512383_439268566.0Compositional biasNote=Pro-rich
HgeneDEAF1chr11:686858chr19:4366991ENST00000338675-111193_2730491.0DomainSAND
HgeneDEAF1chr11:686858chr19:4366991ENST00000382409-512193_273268566.0DomainSAND
HgeneDEAF1chr11:686858chr19:4366991ENST00000338675-111301_3160491.0MotifNuclear localization signal
HgeneDEAF1chr11:686858chr19:4366991ENST00000382409-512301_316268566.0MotifNuclear localization signal
HgeneDEAF1chr11:686858chr19:4366991ENST00000338675-111504_5400491.0Zinc fingerMYND-type
HgeneDEAF1chr11:686858chr19:4366991ENST00000382409-512504_540268566.0Zinc fingerMYND-type
TgeneSH3GL1chr11:686858chr19:4366991ENST000002698860101_2115369.0RegionMembrane-binding amphipathic helix
TgeneSH3GL1chr11:686858chr19:4366991ENST00000417295091_2115321.0RegionMembrane-binding amphipathic helix
TgeneSH3GL1chr11:686858chr19:4366991ENST000005985640101_2115305.0RegionMembrane-binding amphipathic helix


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Fusion Gene Sequence for DEAF1-SH3GL1


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.
>22126_22126_1_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000269886_length(transcript)=3581nt_BP=1289nt
AAACCCGCGGCACTAAGCTCTCTCTGAGAGGCAGAATTGCGCCGGCCGCCGGCGAGAATCTGCCTAGAGCCGTCCAGCCCTGTCGGCCGG
GGACGACAGCCGCCTCAGCCTGTCAGGACAGTGAGGAGAGCAGGGGCCGAGTCTCTCGGAAGCCCTCGTGAGGACTCGGACCTATTCGGA
CTGATTCGGCTTCCCACTTCGGGGAACTTCGACCCTCCTCGGTTCAGGACTCGGTCTCGGCTCGGCGGCTTCGTGCAGGTTCGGCTCCTA
CTCGGGCAGCCTCTGTTCGCCTCGGCTCCGCTCCGCGGGCGGACTCGGCTCGGCTCTGCTCGGCGGCTGGCTGCCTTTTCGGTCCCTATT
CGGGCGGCGGCTTCGGGCGGCCTCGGCCCAGCTCGGGCGTCCTCTTCGGGCCCCGCTTCGGGCTCCGCGACCGGCGCTTCGGGCGGTCCC
GGACGGCGCCTTCGGGAAGGCTCGGCGGAGTCCGGATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGG
TGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGG
AGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGG
GCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAACGTGGGGGCTG
CTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGG
ACAGCCTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTC
CCCTCACCCCAGGTCCTCAGTCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGT
ACGACAGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCA
AGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACG
CGGGCCGACCCTTGCAGTGCCTCATCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGA
TGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGCCTCGCGGG
CTAAGCTGACCATGCTCAACACGGTGTCCAAGATCCGGGGCCAGGTGAAGAACCCCGGCTACCCGCAGTCGGAGGGGCTTCTGGGCGAGT
GCATGATCCGCCACGGGAAGGAGCTGGGCGGCGAGTCCAACTTTGGTGACGCATTGCTGGATGCCGGCGAGTCCATGAAGCGCCTGGCAG
AGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCCAGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGC
ACCACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGG
CGCTGGAGAAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCT
CGGCCCTGGTGGATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGG
AAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCC
CCTGCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACAAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCC
TGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGA
CCAACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCC
TGCCGCAGTGACTCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGGCACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCC
CTGCTGCCAGGGCGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTGAGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGG
GGGGCTTATCTGGGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAACGGTGACGGCTCCCTTCCCCACTCCATGGCGCCAGCC
TCCTCCCCCGCTCCCCAACTTCTCGCCCAGCTGGCCGAGGCGGGGCAACACTAAGGTGCTCTTAGAAACACTAATGTTCCTCTGGGGCAG
CCCCCACCTCCGTCCTGACCCGACGGGGGCCCGGCCCACTGCCTACCCTCGAGTCCCGCAGCCTTAACAGGATGGGATCGAGGGTCCCCA
TGGGGTGGCTCAGAGATAGGACCCTGGTTTTAAATCCCTCCCAGCCTGGTGCTGGTGATGGGCCCTGGCCCTACTCCAGGGCCAATGCAC
CCCCGCCTCACACACGCACTCCTTCTCCTCAAGGCCAGGGCAGAGGGCCTCACCGCCTCCCGGGCCTGCTGTCAGCTTGCAGCCCGGGGA
CAGAGGCCAGCTGGGATCTGCCTGAGGACAGAGAACATGGTCTCCTGCAGGGCCCTGCCTCCCAAGCCCCGCCCTCAGAAAGCCAAGTAC
CTTTTCAGCTTTTTAACTGCCCCCATCCCAACCCAGGGAGGCCTGTGTCACTCTGGCACAAGCTGCCACCACCAGCCACCCACACCCACC
CCAGCACACCTCACACGGGACCACAGCCGCGCTGCCGAGGGCCAAGCACAAAGGTTCCAGTGAGCGCATGTCCCAGCCCCTGGTGGCCAG
GCTCCCCTTGCTGAGCCGCTGCCACTTCACCCTGTGGGAAGTGGCCCCAGCCATCTCCTCTAGACCAAGGCAGGCAGCCCCGACATCTGC
TTCCTCTATCGCCCAATGCAAAATCGATGAAATGGGGAGTTCTCTGGGCCAGGCCACATTCACATTCCCCTCCCCCTGTGGTCCAGTGAA
GCCTCCGGACCCCAGGCTCTGCTCTGCCCTGCCCTGCACCCCCCTCGTCAGAAGTACATGAGGGGCGCAGAGATGAGCACACAGCTTTGG

>22126_22126_1_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000269886_length(amino acids)=621AA_BP=17
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAA
AAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP
LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQLV
SEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPASRAKLTMLNTVSKIRGQVKNPGYPQSEGLLGECMIRHGKELGGE
SNFGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKEIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVA
ETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPREPFDLGEPEQSNGGFPCTTAPKIAASS

--------------------------------------------------------------
>22126_22126_2_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000417295_length(transcript)=2491nt_BP=1289nt
AAACCCGCGGCACTAAGCTCTCTCTGAGAGGCAGAATTGCGCCGGCCGCCGGCGAGAATCTGCCTAGAGCCGTCCAGCCCTGTCGGCCGG
GGACGACAGCCGCCTCAGCCTGTCAGGACAGTGAGGAGAGCAGGGGCCGAGTCTCTCGGAAGCCCTCGTGAGGACTCGGACCTATTCGGA
CTGATTCGGCTTCCCACTTCGGGGAACTTCGACCCTCCTCGGTTCAGGACTCGGTCTCGGCTCGGCGGCTTCGTGCAGGTTCGGCTCCTA
CTCGGGCAGCCTCTGTTCGCCTCGGCTCCGCTCCGCGGGCGGACTCGGCTCGGCTCTGCTCGGCGGCTGGCTGCCTTTTCGGTCCCTATT
CGGGCGGCGGCTTCGGGCGGCCTCGGCCCAGCTCGGGCGTCCTCTTCGGGCCCCGCTTCGGGCTCCGCGACCGGCGCTTCGGGCGGTCCC
GGACGGCGCCTTCGGGAAGGCTCGGCGGAGTCCGGATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGG
TGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGG
AGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGG
GCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAACGTGGGGGCTG
CTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGG
ACAGCCTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTC
CCCTCACCCCAGGTCCTCAGTCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGT
ACGACAGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCA
AGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACG
CGGGCCGACCCTTGCAGTGCCTCATCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGA
TGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGGTGACGCAT
TGCTGGATGCCGGCGAGTCCATGAAGCGCCTGGCAGAGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATTGACCCCCTCC
AGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGCACCACCTGAAGAAACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGC
GGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGCTGGAGAAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACC
TCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGGATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGG
ACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTG
ACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAGCCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACA
AGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGG
AGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGACCAACCAGATCGATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCT
TCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCCTGCCGCAGTGACTCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGG
CACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCCCTGCTGCCAGGGCGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTG
AGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGGGGGGCTTATCTGGGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAAC

>22126_22126_2_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000417295_length(amino acids)=573AA_BP=17
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAA
AAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP
LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQLV
SEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKDLKEIQ
HHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMR
EASSRPKREYKPKPREPFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITL

--------------------------------------------------------------
>22126_22126_3_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000598564_length(transcript)=3388nt_BP=1289nt
AAACCCGCGGCACTAAGCTCTCTCTGAGAGGCAGAATTGCGCCGGCCGCCGGCGAGAATCTGCCTAGAGCCGTCCAGCCCTGTCGGCCGG
GGACGACAGCCGCCTCAGCCTGTCAGGACAGTGAGGAGAGCAGGGGCCGAGTCTCTCGGAAGCCCTCGTGAGGACTCGGACCTATTCGGA
CTGATTCGGCTTCCCACTTCGGGGAACTTCGACCCTCCTCGGTTCAGGACTCGGTCTCGGCTCGGCGGCTTCGTGCAGGTTCGGCTCCTA
CTCGGGCAGCCTCTGTTCGCCTCGGCTCCGCTCCGCGGGCGGACTCGGCTCGGCTCTGCTCGGCGGCTGGCTGCCTTTTCGGTCCCTATT
CGGGCGGCGGCTTCGGGCGGCCTCGGCCCAGCTCGGGCGTCCTCTTCGGGCCCCGCTTCGGGCTCCGCGACCGGCGCTTCGGGCGGTCCC
GGACGGCGCCTTCGGGAAGGCTCGGCGGAGTCCGGATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGG
TGGCGGCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCGGTGCTGAGCAGGGACGAGGACTCGG
AGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACGCCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGG
GCGCCGAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAGAGGTGACCACAGTGACAGTGGCCAACGTGGGGGCTG
CTGCAGACAATGTCTTCACCACGTCTGTGGCGAACGCGGCATCCATCTCAGGACATGTTCTGTCTGGTAGGACGGCCCTTCAGATCGGGG
ACAGCCTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACCACCGGGCTGAAAGGCCCGGCAGCTC
CCCTCACCCCAGGTCCTCAGTCTCCTCCAACCCCTCTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGT
ACGACAGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGCTCAGGCGGCCGGGGACGGTGCATCA
AGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTTGAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACG
CGGGCCGACCCTTGCAGTGCCTCATCCAGCTGGTCAGTGAGAAGGTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGA
TGGAGAAGAAGGTGGATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCCAACCCAGCCTCGCGGG
CTAAGCTGACCATGCTCAACACGGTGTCCAAGATCCGGGGCCAGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAGCACCACCTGAAGA
AACTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGATGAGGAGCTACGCCAGGCGCTGGAGAAGT
TCGAGGAGTCCAAGGAGGTGGCAGAAACCAGCATGCACAACCTCCTGGAGACTGACATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGG
ATGCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTCAAGCGCAGGATGCGGGAAGCTTCCTCAC
GCCCTAAGCGGGAGTATAAGCCCAAGCCCCGGGAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAG
CCCCCAAGATCGCAGCTTCATCGTCTTTCCGATCTTCCGACAAGCCCATCCGGACCCCTAGCCGGAGCATGCCGCCCCTGGACCAGCCGA
GCTGCAAGGCGCTGTACGACTTCGAGCCCGAGAACGACGGGGAGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGACCAACCAGATCG
ATGAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTGGAGGTGCTTGTGCCCCTGCCGCAGTGAC
TCACCCGTGTCCCCGCCCCGCCCCTCCGTCCACACTGGCCGGCACCCCCTGCTGGGTCTCCTGCATTCCACGGAGCCCCTGCTGCCAGGG
CGGTGTCTGAGCCTGCCGGCGCCACCTGGGCCCCGGCCCTTGAGGTACTCCCTGAGCAGGACCCCACACTTGGGTGGGGGGGCTTATCTG
GGTGGGTGGGGATGCCTGTTTACACTAGCGCTGACTCCCAACGGTGACGGCTCCCTTCCCCACTCCATGGCGCCAGCCTCCTCCCCCGCT
CCCCAACTTCTCGCCCAGCTGGCCGAGGCGGGGCAACACTAAGGTGCTCTTAGAAACACTAATGTTCCTCTGGGGCAGCCCCCACCTCCG
TCCTGACCCGACGGGGGCCCGGCCCACTGCCTACCCTCGAGTCCCGCAGCCTTAACAGGATGGGATCGAGGGTCCCCATGGGGTGGCTCA
GAGATAGGACCCTGGTTTTAAATCCCTCCCAGCCTGGTGCTGGTGATGGGCCCTGGCCCTACTCCAGGGCCAATGCACCCCCGCCTCACA
CACGCACTCCTTCTCCTCAAGGCCAGGGCAGAGGGCCTCACCGCCTCCCGGGCCTGCTGTCAGCTTGCAGCCCGGGGACAGAGGCCAGCT
GGGATCTGCCTGAGGACAGAGAACATGGTCTCCTGCAGGGCCCTGCCTCCCAAGCCCCGCCCTCAGAAAGCCAAGTACCTTTTCAGCTTT
TTAACTGCCCCCATCCCAACCCAGGGAGGCCTGTGTCACTCTGGCACAAGCTGCCACCACCAGCCACCCACACCCACCCCAGCACACCTC
ACACGGGACCACAGCCGCGCTGCCGAGGGCCAAGCACAAAGGTTCCAGTGAGCGCATGTCCCAGCCCCTGGTGGCCAGGCTCCCCTTGCT
GAGCCGCTGCCACTTCACCCTGTGGGAAGTGGCCCCAGCCATCTCCTCTAGACCAAGGCAGGCAGCCCCGACATCTGCTTCCTCTATCGC
CCAATGCAAAATCGATGAAATGGGGAGTTCTCTGGGCCAGGCCACATTCACATTCCCCTCCCCCTGTGGTCCAGTGAAGCCTCCGGACCC
CAGGCTCTGCTCTGCCCTGCCCTGCACCCCCCTCGTCAGAAGTACATGAGGGGCGCAGAGATGAGCACACAGCTTTGGGCACGGTCCAGG

>22126_22126_3_DEAF1-SH3GL1_DEAF1_chr11_686858_ENST00000382409_SH3GL1_chr19_4366991_ENST00000598564_length(amino acids)=557AA_BP=17
MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERETPRVTAVAVMAAEPGHMDMGAEALPGPDEAA
AAAAFAEVTTVTVANVGAAADNVFTTSVANAASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP
LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQLV
SEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPASRAKLTMLNTVSKIRGQNLCEKDLKEIQHHLKKLEGRRLDFDYK
KKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDYHRQAVQILDELAEKLKRRMREASSRPKREYKPKPRE
PFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPSRSMPPLDQPSCKALYDFEPENDGELGFHEGDVITLTNQIDENWYEGMLDGQ

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Fusion Gene PPI Analysis for DEAF1-SH3GL1


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
TgeneSH3GL1chr11:686858chr19:4366991ENST00000269886010218_25415.0369.0ARC
TgeneSH3GL1chr11:686858chr19:4366991ENST0000041729509218_25415.0321.0ARC
TgeneSH3GL1chr11:686858chr19:4366991ENST00000598564010218_25415.0305.0ARC


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneDEAF1chr11:686858chr19:4366991ENST00000338675-111403_4780491.0LMO4
HgeneDEAF1chr11:686858chr19:4366991ENST00000382409-512403_478268.0566.0LMO4


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 DEAF1-SH3GL1


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 DEAF1-SH3GL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDEAF1C0041696Unipolar Depression5PSYGENET
HgeneDEAF1C1269683Major Depressive Disorder5PSYGENET
HgeneDEAF1C0011570Mental Depression4PSYGENET
HgeneDEAF1C0011581Depressive disorder4PSYGENET
HgeneDEAF1C4014414MENTAL RETARDATION, AUTOSOMAL DOMINANT 243CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneDEAF1C4310683DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDEAF1C0020796Profound Mental Retardation1CTD_human
HgeneDEAF1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneDEAF1C0795864Smith-Magenis syndrome1ORPHANET
HgeneDEAF1C0917816Mental deficiency1CTD_human
HgeneDEAF1C3714756Intellectual Disability1CTD_human