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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-TMEM80 (FusionGDB2 ID:22117)

Fusion Gene Summary for DEAF1-TMEM80

check button Fusion gene summary
Fusion gene informationFusion gene name: DEAF1-TMEM80
Fusion gene ID: 22117
HgeneTgene
Gene symbol

DEAF1

TMEM80

Gene ID

10522

283232

Gene nameDEAF1 transcription factortransmembrane protein 80
SynonymsMRD24|NUDR|SPN|ZMYND5-
Cytomap

11p15.5

11p15.5

Type of geneprotein-codingprotein-coding
Descriptiondeformed epidermal autoregulatory factor 1 homolognuclear DEAF-1-related transcriptional regulatorsuppressinzinc finger MYND domain-containing protein 5transmembrane protein 80
Modification date2020031320200313
UniProtAcc

O75398

.
Ensembl transtripts involved in fusion geneENST00000338675, ENST00000382409, 
ENST00000525904, 		ENST00000397510, 
ENST00000608174, ENST00000397512, 
ENST00000528024, 
Fusion gene scores* DoF score6 X 5 X 4=1204 X 9 X 5=180
# samples 86
** MAII scorelog2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DEAF1 [Title/Abstract] AND TMEM80 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDEAF1(686858)-TMEM80(700615), # samples:2
Anticipated loss of major functional domain due to fusion event.DEAF1-TMEM80 seems lost the major protein functional domain in Hgene partner, which is a transcription factor 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
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.

check buttonFusion gene breakpoints across TMEM80 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4COADTCGA-D5-5538-01ADEAF1chr11

686858

-TMEM80chr11

700180

+
ChimerDB4COADTCGA-D5-5538-01ADEAF1chr11

686858

-TMEM80chr11

700615

+
ChimerDB4COADTCGA-D5-5538-01ADEAF1chr11

686858

-TMEM80chr11

700615

+


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Fusion Gene ORF analysis for DEAF1-TMEM80

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
intron-3CDSENST00000338675ENST00000397510DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-3CDSENST00000338675ENST00000608174DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-3CDSENST00000338675ENST00000397512DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-intronENST00000338675ENST00000528024DEAF1chr11

686858

-TMEM80chr11

700180

+
In-frameENST00000382409ENST00000397510DEAF1chr11

686858

-TMEM80chr11

700180

+
In-frameENST00000382409ENST00000608174DEAF1chr11

686858

-TMEM80chr11

700180

+
In-frameENST00000382409ENST00000397512DEAF1chr11

686858

-TMEM80chr11

700180

+
5CDS-intronENST00000382409ENST00000528024DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-3CDSENST00000525904ENST00000397510DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-3CDSENST00000525904ENST00000608174DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-3CDSENST00000525904ENST00000397512DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-intronENST00000525904ENST00000528024DEAF1chr11

686858

-TMEM80chr11

700180

+
intron-3CDSENST00000338675ENST00000397510DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-3CDSENST00000338675ENST00000608174DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-3CDSENST00000338675ENST00000397512DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-intronENST00000338675ENST00000528024DEAF1chr11

686858

-TMEM80chr11

700615

+
Frame-shiftENST00000382409ENST00000397510DEAF1chr11

686858

-TMEM80chr11

700615

+
Frame-shiftENST00000382409ENST00000608174DEAF1chr11

686858

-TMEM80chr11

700615

+
Frame-shiftENST00000382409ENST00000397512DEAF1chr11

686858

-TMEM80chr11

700615

+
5CDS-intronENST00000382409ENST00000528024DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-3CDSENST00000525904ENST00000397510DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-3CDSENST00000525904ENST00000608174DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-3CDSENST00000525904ENST00000397512DEAF1chr11

686858

-TMEM80chr11

700615

+
intron-intronENST00000525904ENST00000528024DEAF1chr11

686858

-TMEM80chr11

700615

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DEAF1-TMEM80


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)
DEAF1chr11686857-TMEM80chr11700614+0.0002482270.99975175
DEAF1chr11686857-TMEM80chr11700614+0.0002482270.99975175

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.

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.

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Fusion Protein Features for DEAF1-TMEM80


check button Go to

FGviewer for the breakpoints of chr11:686858-chr11:700180

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DEAF1

O75398

.
FUNCTION: Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGGTTCACCGAAAGTTCA-3'. Activates the proenkephalin gene independently of promoter binding, probably through protein-protein interaction. When secreted, behaves as an inhibitor of cell proliferation, by arresting cells in the G0 or G1 phase. Required for neural tube closure and skeletal patterning. Regulates epithelial cell proliferation and side-branching in the mammary gland. Controls the expression of peripheral tissue antigens in pancreatic lymph nodes. Isoform 1 displays greater transcriptional activity than isoform 4. Isoform 4 may inhibit transcriptional activity of isoform 1 by interacting with isoform 1 and retaining it in the cytoplasm. Transcriptional activator of EIF4G3. {ECO:0000269|PubMed:10521432, ECO:0000269|PubMed:11427895, ECO:0000269|PubMed:11705868, ECO:0000269|PubMed:18826651, ECO:0000269|PubMed:19668219, ECO:0000269|PubMed:24726472}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneDEAF1chr11:686858chr11:700180ENST00000382409-5122_122268.0566.0Compositional biasNote=Ala-rich
TgeneTMEM80chr11:686858chr11:700180ENST0000039751005128_1480217.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST0000039751005172_1920217.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST0000039751005194_2140217.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST000003975100594_1140217.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST0000039751205128_1480161.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST0000039751205172_1920161.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST0000039751205194_2140161.0TransmembraneHelical
TgeneTMEM80chr11:686858chr11:700180ENST000003975120594_1140161.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDEAF1chr11:686858chr11:700180ENST00000338675-1112_1220491.0Compositional biasNote=Ala-rich
HgeneDEAF1chr11:686858chr11:700180ENST00000338675-111383_4390491.0Compositional biasNote=Pro-rich
HgeneDEAF1chr11:686858chr11:700180ENST00000382409-512383_439268.0566.0Compositional biasNote=Pro-rich
HgeneDEAF1chr11:686858chr11:700180ENST00000338675-111193_2730491.0DomainSAND
HgeneDEAF1chr11:686858chr11:700180ENST00000382409-512193_273268.0566.0DomainSAND
HgeneDEAF1chr11:686858chr11:700180ENST00000338675-111301_3160491.0MotifNuclear localization signal
HgeneDEAF1chr11:686858chr11:700180ENST00000382409-512301_316268.0566.0MotifNuclear localization signal
HgeneDEAF1chr11:686858chr11:700180ENST00000338675-111504_5400491.0Zinc fingerMYND-type
HgeneDEAF1chr11:686858chr11:700180ENST00000382409-512504_540268.0566.0Zinc fingerMYND-type


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Fusion Gene Sequence for DEAF1-TMEM80


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.

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Fusion Gene PPI Analysis for DEAF1-TMEM80


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
HgeneDEAF1chr11:686858chr11:700180ENST00000338675-111403_4780491.0LMO4
HgeneDEAF1chr11:686858chr11:700180ENST00000382409-512403_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-TMEM80


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-TMEM80


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