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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:TMEM237-ENO1 (FusionGDB2 ID:HG65062TG2023)

Fusion Gene Summary for TMEM237-ENO1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM237-ENO1
Fusion gene ID: hg65062tg2023
HgeneTgene
Gene symbol

TMEM237

ENO1

Gene ID

65062

2023

Gene nametransmembrane protein 237enolase 1
SynonymsALS2CR4|JBTS14ENO1L1|HEL-S-17|MPB1|NNE|PPH
Cytomap('TMEM237')('ENO1')

2q33.1

1p36.23

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 237amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 proteinalpha-enolasec-myc promoter-binding protein-12-phospho-D-glycerate hydro-lyaseMYC promoter-binding protein 1alpha enolase like 1enolase 1, (alpha)enolase-alphaepididymis secretory protein Li 17non-neural enolasephosphopyruvate hydrataseplasminog
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000409444, ENST00000409883, 
ENST00000466839, 
Fusion gene scores* DoF score2 X 2 X 2=826 X 31 X 13=10478
# samples 237
** MAII scorelog2(2/8*10)=1.32192809488736log2(37/10478*10)=-4.82369428615275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM237 [Title/Abstract] AND ENO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMEM237(202487947)-ENO1(8932002), # samples:1
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
TgeneENO1

GO:0000122

negative regulation of transcription by RNA polymerase II

2005901

TgeneENO1

GO:0030308

negative regulation of cell growth

10082554

TgeneENO1

GO:0045892

negative regulation of transcription, DNA-templated

10082554

TgeneENO1

GO:0061621

canonical glycolysis

29775581

TgeneENO1

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

15459207

TgeneENO1

GO:2001171

positive regulation of ATP biosynthetic process

15459207



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
ChimerDB4KIRCTCGA-BP-4982-01ATMEM237chr2

202487947

-ENO1chr1

8932002

-


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Fusion Gene ORF analysis for TMEM237-ENO1

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-3CDSENST00000409444ENST00000234590TMEM237chr2

202487947

-ENO1chr1

8932002

-
intron-3CDSENST00000409883ENST00000234590TMEM237chr2

202487947

-ENO1chr1

8932002

-
intron-3CDSENST00000466839ENST00000234590TMEM237chr2

202487947

-ENO1chr1

8932002

-

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 TMEM237-ENO1


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 TMEM237-ENO1


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/:202487947/:8932002)
- 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 TMEM237-ENO1


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 TMEM237-ENO1


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 TMEM237-ENO1


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 TMEM237-ENO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMEM237C0431399Familial aplasia of the vermis2GENOMICS_ENGLAND;ORPHANET
HgeneTMEM237C3280766JOUBERT SYNDROME 142GENOMICS_ENGLAND
HgeneTMEM237C4551568Joubert syndrome 12ORPHANET
HgeneTMEM237C1846790JOUBERT SYNDROME 4 (disorder)1ORPHANET
HgeneTMEM237C1855675Arima syndrome1GENOMICS_ENGLAND;ORPHANET
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0001787Osteoporosis, Age-Related1CTD_human
TgeneC0002395Alzheimer's Disease1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0011265Presenile dementia1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0021364Male infertility1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0029408Degenerative polyarthritis1CTD_human
TgeneC0029456Osteoporosis1CTD_human
TgeneC0029459Osteoporosis, Senile1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0086743Osteoarthrosis Deformans1CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneC0520459Necrotizing Enterocolitis1CTD_human
TgeneC0546126Acute Confusional Senile Dementia1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneC0848676Subfertility, Male1CTD_human
TgeneC0917731Male sterility1CTD_human
TgeneC0948089Acute Coronary Syndrome1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human