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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:TMEM135-CHEK1 (FusionGDB2 ID:HG65084TG1111)

Fusion Gene Summary for TMEM135-CHEK1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM135-CHEK1
Fusion gene ID: hg65084tg1111
HgeneTgene
Gene symbol

TMEM135

CHEK1

Gene ID

65084

1111

Gene nametransmembrane protein 135checkpoint kinase 1
SynonymsPMP52CHK1
Cytomap('TMEM135')('CHEK1')

11q14.2

11q24.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 135peroxisomal membrane protein 52serine/threonine-protein kinase Chk1CHK1 checkpoint homologCheckpoint, S. pombe, homolog of, 1Chk1-Scell cycle checkpoint kinase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000305494, ENST00000340353, 
ENST00000355734, ENST00000532959, 
ENST00000535167, 
Fusion gene scores* DoF score17 X 12 X 8=16323 X 3 X 3=27
# samples 203
** MAII scorelog2(20/1632*10)=-3.02856915219677
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMEM135 [Title/Abstract] AND CHEK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMEM135(86802437)-CHEK1(125545823), # samples:3
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
TgeneCHEK1

GO:0000077

DNA damage checkpoint

16963448

TgeneCHEK1

GO:0006915

apoptotic process

23028632

TgeneCHEK1

GO:0006975

DNA damage induced protein phosphorylation

16963448

TgeneCHEK1

GO:0010569

regulation of double-strand break repair via homologous recombination

15665856

TgeneCHEK1

GO:0018107

peptidyl-threonine phosphorylation

15665856

TgeneCHEK1

GO:0045787

positive regulation of cell cycle

26296656

TgeneCHEK1

GO:0045839

negative regulation of mitotic nuclear division

15311285

TgeneCHEK1

GO:0046602

regulation of mitotic centrosome separation

15311285



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
ChimerDB4BRCATCGA-OL-A66P-01ATMEM135chr11

86802437

-CHEK1chr11

125545823

+
ChimerDB4BRCATCGA-OL-A66P-01ATMEM135chr11

86802437

+CHEK1chr11

125545823

+


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Fusion Gene ORF analysis for TMEM135-CHEK1

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-3UTRENST00000305494ENST00000428830TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-3UTRENST00000340353ENST00000428830TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-3UTRENST00000355734ENST00000428830TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000278916TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000427383TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000438015TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000524737TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000532449TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000534070TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000305494ENST00000544373TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000278916TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000427383TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000438015TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000524737TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000532449TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000534070TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000340353ENST00000544373TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000278916TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000427383TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000438015TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000524737TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000532449TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000534070TMEM135chr11

86802437

+CHEK1chr11

125545823

+
5CDS-intronENST00000355734ENST00000544373TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-3UTRENST00000532959ENST00000428830TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-3UTRENST00000535167ENST00000428830TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000278916TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000427383TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000438015TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000524737TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000532449TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000534070TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000532959ENST00000544373TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000278916TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000427383TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000438015TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000524737TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000532449TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000534070TMEM135chr11

86802437

+CHEK1chr11

125545823

+
intron-intronENST00000535167ENST00000544373TMEM135chr11

86802437

+CHEK1chr11

125545823

+

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 TMEM135-CHEK1


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)
TMEM135chr1186802437+CHEK1chr11125545822+1.63E-050.9999838
TMEM135chr1186802437+CHEK1chr11125545822+1.63E-050.9999838


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.
genomic feature of top 1%

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Fusion Protein Features for TMEM135-CHEK1


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/:86802437/:125545823)
- 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 TMEM135-CHEK1


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 TMEM135-CHEK1


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 TMEM135-CHEK1


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 TMEM135-CHEK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMEM135C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneTMEM135C0017636Glioblastoma1CTD_human
HgeneTMEM135C0020796Profound Mental Retardation1CTD_human
HgeneTMEM135C0025363Mental Retardation, Psychosocial1CTD_human
HgeneTMEM135C0334588Giant Cell Glioblastoma1CTD_human
HgeneTMEM135C0917816Mental deficiency1CTD_human
HgeneTMEM135C1621958Glioblastoma Multiforme1CTD_human
HgeneTMEM135C3714756Intellectual Disability1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0032578Polyploidy1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human