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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-HRAS (FusionGDB2 ID:HG10522TG3265)

Fusion Gene Summary for DEAF1-HRAS

check button Fusion gene summary
Fusion gene informationFusion gene name: DEAF1-HRAS
Fusion gene ID: hg10522tg3265
HgeneTgene
Gene symbol

DEAF1

HRAS

Gene ID

10522

3265

Gene nameDEAF1 transcription factorHRas proto-oncogene, GTPase
SynonymsMRD24|NUDR|SPN|ZMYND5C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|RASH1|p21ras
Cytomap('DEAF1')('HRAS')

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 5GTPase HRasGTP- and GDP-binding peptide BHa-Ras1 proto-oncoproteinHarvey rat sarcoma viral oncogene homologHarvey rat sarcoma viral oncoproteinRas family small GTP binding protein H-Rasc-has/bas p21 proteinp19 H-RasIDX proteintransformation gene:
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000338675, ENST00000382409, 
ENST00000525904, 
Fusion gene scores* DoF score6 X 5 X 4=1205 X 6 X 4=120
# samples 86
** MAII scorelog2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointDEAF1(680963)-HRAS(532755), # samples:2
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
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

TgeneHRAS

GO:0001934

positive regulation of protein phosphorylation

22065586

TgeneHRAS

GO:0007050

cell cycle arrest

9054499

TgeneHRAS

GO:0007093

mitotic cell cycle checkpoint

9054499

TgeneHRAS

GO:0007265

Ras protein signal transduction

23027131

TgeneHRAS

GO:0008284

positive regulation of cell proliferation

9765203

TgeneHRAS

GO:0008285

negative regulation of cell proliferation

9054499

TgeneHRAS

GO:0010629

negative regulation of gene expression

23027131

TgeneHRAS

GO:0010863

positive regulation of phospholipase C activity

11022048

TgeneHRAS

GO:0030335

positive regulation of cell migration

23027131

TgeneHRAS

GO:0034260

negative regulation of GTPase activity

23027131

TgeneHRAS

GO:0043406

positive regulation of MAP kinase activity

23027131

TgeneHRAS

GO:0043410

positive regulation of MAPK cascade

9765203

TgeneHRAS

GO:0043547

positive regulation of GTPase activity

23027131

TgeneHRAS

GO:0045944

positive regulation of transcription by RNA polymerase II

22065586|23027131

TgeneHRAS

GO:0046330

positive regulation of JNK cascade

22065586

TgeneHRAS

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22065586

TgeneHRAS

GO:0071480

cellular response to gamma radiation

16213212

TgeneHRAS

GO:0090303

positive regulation of wound healing

23027131

TgeneHRAS

GO:0090398

cellular senescence

9054499

TgeneHRAS

GO:0098696

regulation of neurotransmitter receptor localization to postsynaptic specialization membrane

12202034

TgeneHRAS

GO:1900029

positive regulation of ruffle assembly

23027131

TgeneHRAS

GO:2000251

positive regulation of actin cytoskeleton reorganization

23027131

TgeneHRAS

GO:2000630

positive regulation of miRNA metabolic process

23027131



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
ChimerDB4COADTCGA-AD-6888-01ADEAF1chr11

680963

-HRASchr11

532755

-
ChimerDB4COADTCGA-AD-6888-01ADEAF1chr11

684898

-HRASchr11

532755

-


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Fusion Gene ORF analysis for DEAF1-HRAS

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-3UTRENST00000338675ENST00000311189DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000338675ENST00000397594DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000338675ENST00000397596DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000338675ENST00000417302DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000338675ENST00000451590DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000311189DEAF1chr11

680963

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000311189DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000397594DEAF1chr11

680963

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000397594DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000397596DEAF1chr11

680963

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000397596DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000417302DEAF1chr11

680963

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000417302DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000451590DEAF1chr11

680963

-HRASchr11

532755

-
5CDS-3UTRENST00000382409ENST00000451590DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-intronENST00000338675ENST00000468682DEAF1chr11

684898

-HRASchr11

532755

-
5CDS-intronENST00000382409ENST00000468682DEAF1chr11

680963

-HRASchr11

532755

-
5CDS-intronENST00000382409ENST00000468682DEAF1chr11

684898

-HRASchr11

532755

-
5UTR-3UTRENST00000525904ENST00000311189DEAF1chr11

680963

-HRASchr11

532755

-
5UTR-3UTRENST00000525904ENST00000397594DEAF1chr11

680963

-HRASchr11

532755

-
5UTR-3UTRENST00000525904ENST00000397596DEAF1chr11

680963

-HRASchr11

532755

-
5UTR-3UTRENST00000525904ENST00000417302DEAF1chr11

680963

-HRASchr11

532755

-
5UTR-3UTRENST00000525904ENST00000451590DEAF1chr11

680963

-HRASchr11

532755

-
5UTR-intronENST00000525904ENST00000468682DEAF1chr11

680963

-HRASchr11

532755

-
intron-3UTRENST00000338675ENST00000311189DEAF1chr11

680963

-HRASchr11

532755

-
intron-3UTRENST00000338675ENST00000397594DEAF1chr11

680963

-HRASchr11

532755

-
intron-3UTRENST00000338675ENST00000397596DEAF1chr11

680963

-HRASchr11

532755

-
intron-3UTRENST00000338675ENST00000417302DEAF1chr11

680963

-HRASchr11

532755

-
intron-3UTRENST00000338675ENST00000451590DEAF1chr11

680963

-HRASchr11

532755

-
intron-3UTRENST00000525904ENST00000311189DEAF1chr11

684898

-HRASchr11

532755

-
intron-3UTRENST00000525904ENST00000397594DEAF1chr11

684898

-HRASchr11

532755

-
intron-3UTRENST00000525904ENST00000397596DEAF1chr11

684898

-HRASchr11

532755

-
intron-3UTRENST00000525904ENST00000417302DEAF1chr11

684898

-HRASchr11

532755

-
intron-3UTRENST00000525904ENST00000451590DEAF1chr11

684898

-HRASchr11

532755

-
intron-intronENST00000338675ENST00000468682DEAF1chr11

680963

-HRASchr11

532755

-
intron-intronENST00000525904ENST00000468682DEAF1chr11

684898

-HRASchr11

532755

-

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-HRAS


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)


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Fusion Protein Features for DEAF1-HRAS


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/:680963/:532755)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for DEAF1-HRAS


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-HRAS


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 DEAF1-HRAS


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-HRAS


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
TgeneC0587248Costello syndrome (disorder)28CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0007114Malignant neoplasm of skin7CTD_human
TgeneC0037286Skin Neoplasms7CTD_human
TgeneC0007621Neoplastic Cell Transformation5CTD_human
TgeneC0023903Liver neoplasms5CTD_human
TgeneC0024121Lung Neoplasms5CTD_human
TgeneC0242379Malignant neoplasm of lung5CTD_human
TgeneC0345904Malignant neoplasm of liver5CTD_human
TgeneC2239176Liver carcinoma5CTD_human
TgeneC0006142Malignant neoplasm of breast4CGI;CTD_human
TgeneC0019207Hepatoma, Morris4CTD_human
TgeneC0019208Hepatoma, Novikoff4CTD_human
TgeneC0023904Liver Neoplasms, Experimental4CTD_human
TgeneC0086404Experimental Hepatoma4CTD_human
TgeneC0238463Papillary thyroid carcinoma4ORPHANET
TgeneC0678222Breast Carcinoma4CGI;CTD_human
TgeneC1257931Mammary Neoplasms, Human4CTD_human
TgeneC1458155Mammary Neoplasms4CTD_human
TgeneC4704874Mammary Carcinoma, Human4CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder3CGI;CTD_human
TgeneC0005695Bladder Neoplasm3CGI;CTD_human
TgeneC0027659Neoplasms, Experimental3CTD_human
TgeneC0265329Organoid Nevus Phakomatosis3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC2931658Phacomatosis pigmentokeratotica3GENOMICS_ENGLAND;ORPHANET
TgeneC0007137Squamous cell carcinoma2CGI;CTD_human
TgeneC0024623Malignant neoplasm of stomach2CTD_human
TgeneC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneC0027819Neuroblastoma2CGI;CTD_human
TgeneC0038356Stomach Neoplasms2CTD_human
TgeneC0343073Wooly hair2GENOMICS_ENGLAND
TgeneC1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007138Carcinoma, Transitional Cell1CGI;CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0018923Hemangiosarcoma1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0025202melanoma1CGI;CTD_human;UNIPROT
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0028326Noonan Syndrome1CLINGEN;CTD_human
TgeneC0030354Papilloma1CTD_human
TgeneC0030849Penile Neoplasms1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036631Seminoma1CTD_human
TgeneC0037999Splenic Neoplasms1CTD_human
TgeneC0040136Thyroid Neoplasm1CTD_human
TgeneC0040411Tongue Neoplasms1CTD_human
TgeneC0041409Turner Syndrome, Male1CTD_human
TgeneC0079772T-Cell Lymphoma1CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0153349Malignant neoplasm of tongue1CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0153470Malignant neoplasm of spleen1CTD_human
TgeneC0153601Malignant neoplasm of penis1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0205874Papilloma, Squamous Cell1CTD_human
TgeneC0205875Papillomatosis1CTD_human
TgeneC0206669Hepatocellular Adenoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0343114Woolly hair nevus1ORPHANET
TgeneC0362030Verrucous epidermal nevus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0431380Cortical Dysplasia1CTD_human
TgeneC0473574Inflammatory linear verrucous epidermal nevus1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0549473Thyroid carcinoma1CGI;CTD_human
TgeneC0555198Malignant Glioma1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1275081Cardio-facio-cutaneous syndrome1CLINGEN;CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC1527404Female Pseudo-Turner Syndrome1CTD_human
TgeneC1843181Noonan syndrome-like disorder with loose anagen hair1CLINGEN
TgeneC1955869Malformations of Cortical Development1CTD_human
TgeneC3179502Linear Verrucous Epidermal Nevus1CTD_human
TgeneC3501846Noonan-Like Syndrome With Loose Anagen Hair1CLINGEN
TgeneC3854181Nevus sebaceous1ORPHANET
TgeneC4225426THYROID CANCER, NONMEDULLARY, 21UNIPROT
TgeneC4551602Noonan Syndrome 11CTD_human
TgeneC4552097Nevus Sebaceus of Jadassohn1CTD_human;GENOMICS_ENGLAND;UNIPROT