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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:EHF-CAT

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EHF-CAT
FusionPDB ID: 25568
FusionGDB2.0 ID: 25568
HgeneTgene
Gene symbol

EHF

CAT

Gene ID

26298

10249

Gene nameETS homologous factorglycine-N-acyltransferase
SynonymsESE3|ESE3B|ESEJACGNAT|CAT|GAT
Cytomap

11p13

11q12.1

Type of geneprotein-codingprotein-coding
DescriptionETS homologous factorESE3 transcription factorETS domain-containing transcription factorepithelium-specific Ets transcription factor 3hEHFglycine N-acyltransferaseAAcHRP-1(CLP)acyl-CoA:glycine N-acyltransferasearalkyl acyl-CoA N-acyltransferasearalkyl acyl-CoA:amino acid N-acyltransferasearalkyl-CoA N-acyltransferasebenzoyl-coenzyme A:glycine N-acyltransferaseepididymis secretory sp
Modification date2020032920200313
UniProtAcc

Q9NZC4

Q6ZRH7

Ensembl transtripts involved in fusion geneENST idsENST00000257831, ENST00000450654, 
ENST00000527935, ENST00000530286, 
ENST00000531728, ENST00000531794, 
ENST00000533754, ENST00000527001, 
ENST00000534710, ENST00000241052, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 13 X 4=46814 X 11 X 8=1232
# samples 1218
** MAII scorelog2(12/468*10)=-1.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/1232*10)=-2.77493344436523
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EHF [Title/Abstract] AND CAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EHF(34668231)-CAT(34485652), # samples:2
Anticipated loss of major functional domain due to fusion event.EHF-CAT 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.
EHF-CAT 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.
EHF-CAT 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.
EHF-CAT 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
HgeneEHF

GO:0045893

positive regulation of transcription, DNA-templated

10644770

HgeneEHF

GO:0045944

positive regulation of transcription by RNA polymerase II

17027647

TgeneCAT

GO:0006544

glycine metabolic process

22475485

TgeneCAT

GO:1901787

benzoyl-CoA metabolic process

22475485


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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BRCATCGA-BH-A0B9-01AEHFchr11

34668231

+CATchr11

34485652

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000257831EHFchr1134668231+ENST00000241052CATchr1134485652+1482464121852243
ENST00000450654EHFchr1134668231+ENST00000241052CATchr1134485652+145844097828243
ENST00000530286EHFchr1134668231+ENST00000241052CATchr1134485652+1501483140871243
ENST00000533754EHFchr1134668231+ENST00000241052CATchr1134485652+1578560208948246
ENST00000531728EHFchr1134668231+ENST00000241052CATchr1134485652+1257239214627137
ENST00000531794EHFchr1134668231+ENST00000241052CATchr1134485652+15535356923305
ENST00000527935EHFchr1134668231+ENST00000241052CATchr1134485652+1329311370699109

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
ENST00000257831ENST00000241052EHFchr1134668231+CATchr1134485652+0.0025487170.99745125
ENST00000450654ENST00000241052EHFchr1134668231+CATchr1134485652+0.0025792090.9974208
ENST00000530286ENST00000241052EHFchr1134668231+CATchr1134485652+0.0025321260.9974679
ENST00000533754ENST00000241052EHFchr1134668231+CATchr1134485652+0.0016309960.99836904
ENST00000531728ENST00000241052EHFchr1134668231+CATchr1134485652+0.004902050.99509794
ENST00000531794ENST00000241052EHFchr1134668231+CATchr1134485652+0.0013807370.9986193
ENST00000527935ENST00000241052EHFchr1134668231+CATchr1134485652+0.78681890.21318108

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>25568_25568_1_EHF-CAT_EHF_chr11_34668231_ENST00000257831_CAT_chr11_34485652_ENST00000241052_length(amino acids)=243AA_BP=114
MILEGGGVMNLNPGNNLLHQPPAWTDSYSTCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQHLLDTNQLDANCIPFQEFDINGEHLCSMSL
QEFTRAAGTAGQLLYSNLQHLKWNGGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIA

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

>25568_25568_2_EHF-CAT_EHF_chr11_34668231_ENST00000450654_CAT_chr11_34485652_ENST00000241052_length(amino acids)=243AA_BP=114
MILEGGGVMNLNPGNNLLHQPPAWTDSYSTCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQHLLDTNQLDANCIPFQEFDINGEHLCSMSL
QEFTRAAGTAGQLLYSNLQHLKWNGGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIA

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

>25568_25568_3_EHF-CAT_EHF_chr11_34668231_ENST00000527935_CAT_chr11_34485652_ENST00000241052_length(amino acids)=109AA_BP=
MEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIAGHLKDAQIFIQKKAVKNFTEVHPDYGSHIQALLDKYNAEKPKNA

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

>25568_25568_4_EHF-CAT_EHF_chr11_34668231_ENST00000530286_CAT_chr11_34485652_ENST00000241052_length(amino acids)=243AA_BP=114
MILEGGGVMNLNPGNNLLHQPPAWTDSYSTCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQHLLDTNQLDANCIPFQEFDINGEHLCSMSL
QEFTRAAGTAGQLLYSNLQHLKWNGGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIA

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

>25568_25568_5_EHF-CAT_EHF_chr11_34668231_ENST00000531728_CAT_chr11_34485652_ENST00000241052_length(amino acids)=137AA_BP=9
MQMTGFFVSGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIAGHLKDAQIFIQKKAVK

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

>25568_25568_6_EHF-CAT_EHF_chr11_34668231_ENST00000531794_CAT_chr11_34485652_ENST00000241052_length(amino acids)=305AA_BP=176
MLYSALSGDWFWLRLLCETQKHYPLCQLHVLVRVFCEGKGMGLPERRGLVLLLSLAEILFKIMILEGGGVMNLNPGNNLLHQPPAWTDSY
STCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQHLLDTNQLDANCIPFQEFDINGEHLCSMSLQEFTRAAGTAGQLLYSNLQHLKWNGGAP
NYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIAGHLKDAQIFIQKKAVKNFTEVHPDYGSH

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

>25568_25568_7_EHF-CAT_EHF_chr11_34668231_ENST00000533754_CAT_chr11_34485652_ENST00000241052_length(amino acids)=246AA_BP=117
MEIMILEGGGVMNLNPGNNLLHQPPAWTDSYSTCNVSSGFFGGQWHEIHPQYWTKYQVWEWLQHLLDTNQLDANCIPFQEFDINGEHLCS
MSLQEFTRAAGTAGQLLYSNLQHLKWNGGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCE

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

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Fusion Protein Functional Features


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/chr11:34668231/chr11:34485652)
- 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
EHF

Q9NZC4

CAT

Q6ZRH7

FUNCTION: Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene. {ECO:0000269|PubMed:10527851, ECO:0000269|PubMed:10644770, ECO:0000269|PubMed:11259407, ECO:0000269|PubMed:12444029, ECO:0000269|PubMed:17027647}.FUNCTION: Probably involved in sperm cell hyperactivation via its association with CATSPER1. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. {ECO:0000250|UniProtKB:C6KI89}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEHFchr11:34668231chr11:34485652ENST00000257831+3929_115114.33333333333333301.0DomainPNT
HgeneEHFchr11:34668231chr11:34485652ENST00000450654+3829_115114.33333333333333278.0DomainPNT
HgeneEHFchr11:34668231chr11:34485652ENST00000530286+3929_115114.33333333333333301.0DomainPNT
HgeneEHFchr11:34668231chr11:34485652ENST00000531794+3929_115136.33333333333334323.0DomainPNT
HgeneEHFchr11:34668231chr11:34485652ENST00000533754+3929_115114.33333333333333301.0DomainPNT

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEHFchr11:34668231chr11:34485652ENST00000257831+39207_289114.33333333333333301.0DNA bindingETS
HgeneEHFchr11:34668231chr11:34485652ENST00000450654+38207_289114.33333333333333278.0DNA bindingETS
HgeneEHFchr11:34668231chr11:34485652ENST00000530286+39207_289114.33333333333333301.0DNA bindingETS
HgeneEHFchr11:34668231chr11:34485652ENST00000531794+39207_289136.33333333333334323.0DNA bindingETS
HgeneEHFchr11:34668231chr11:34485652ENST00000533754+39207_289114.33333333333333301.0DNA bindingETS


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
EHF
CAT


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to EHF-CAT


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to EHF-CAT


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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