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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:TMEM248-ATOH8 (FusionGDB2 ID:HG55069TG84913)

Fusion Gene Summary for TMEM248-ATOH8

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM248-ATOH8
Fusion gene ID: hg55069tg84913
HgeneTgene
Gene symbol

TMEM248

ATOH8

Gene ID

55069

84913

Gene nametransmembrane protein 248atonal bHLH transcription factor 8
SynonymsC7orf42HATH6|bHLHa21
Cytomap('C7orf42','TMEM248')('ATOH8','ATOH8')

7q11.21

2p11.2

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 248UPF0458 protein C7orf42protein atonal homolog 8atonal homolog 6atonal homolog 8atonal homolog bHLH transcription factor 8basic helix loop helix transcription factor 6class A basic helix-loop-helix protein 21helix-loop-helix protein hATH-6
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000341567, 
Fusion gene scores* DoF score8 X 7 X 5=2802 X 2 X 2=8
# samples 82
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: TMEM248 [Title/Abstract] AND ATOH8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTMEM248(66407011)-ATOH8(85991114), # samples:2
C7orf42(66407011)-ATOH8(85991114), # samples:1
Anticipated loss of major functional domain due to fusion event.TMEM248-ATOH8 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.
TMEM248-ATOH8 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
TgeneATOH8

GO:0045603

positive regulation of endothelial cell differentiation

24463812

TgeneATOH8

GO:0045893

positive regulation of transcription, DNA-templated

24236640

TgeneATOH8

GO:0060395

SMAD protein signal transduction

24236640


check buttonFusion gene breakpoints across TMEM248 (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 ATOH8 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4ACCTCGA-OR-A5KY-01AC7orf42chr7

66407011

-ATOH8chr2

85991114

+
ChimerDB4ACCTCGA-OR-A5KY-01ATMEM248chr7

66407011

+ATOH8chr2

85991114

+


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Fusion Gene ORF analysis for TMEM248-ATOH8

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-3UTRENST00000341567ENST00000463422TMEM248chr7

66407011

+ATOH8chr2

85991114

+
In-frameENST00000341567ENST00000306279TMEM248chr7

66407011

+ATOH8chr2

85991114

+

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)
ENST00000341567TMEM248chr766407011+ENST00000306279ATOH8chr285991114+178841411211765214

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
ENST00000341567ENST00000306279TMEM248chr766407011+ATOH8chr285991114+0.13110550.86889446

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Fusion Genomic Features for TMEM248-ATOH8


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)
TMEM248chr766407011+ATOH8chr285991113+3.07E-101
TMEM248chr766407011+ATOH8chr285991113+3.07E-101

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.
genomic feature

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 TMEM248-ATOH8


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/chr7:66407011/chr2:85991114)
- 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
HgeneTMEM248chr7:66407011chr2:85991114ENST00000341567+2721_4153315.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMEM248chr7:66407011chr2:85991114ENST00000341567+27179_19953315.0TransmembraneHelical
HgeneTMEM248chr7:66407011chr2:85991114ENST00000341567+27236_25853315.0TransmembraneHelical
HgeneTMEM248chr7:66407011chr2:85991114ENST00000341567+27270_29053315.0TransmembraneHelical
TgeneATOH8chr7:66407011chr2:85991114ENST000003062790369_187256322.0Compositional biasPro-rich
TgeneATOH8chr7:66407011chr2:85991114ENST0000030627903230_282256322.0DomainbHLH
TgeneATOH8chr7:66407011chr2:85991114ENST0000030627903230_243256322.0RegionBasic motif%3B degenerate
TgeneATOH8chr7:66407011chr2:85991114ENST0000030627903244_282256322.0RegionHelix-loop-helix motif


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Fusion Gene Sequence for TMEM248-ATOH8


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.
>91995_91995_1_TMEM248-ATOH8_TMEM248_chr7_66407011_ENST00000341567_ATOH8_chr2_85991114_ENST00000306279_length(transcript)=1788nt_BP=414nt
ACCCGGAAACCGCGGTTGCCGGAGCCCGAACTGAGGCGGCGGCGGGAGCCCGGTTGGCGTCTGGTCTTCGCGTCGGCCCCGCGGAGCCAG
ACGCTGCCCCCGGCGCGGGGAGAAGATGGTGCCTAGCGGCCTCGGGCCCGCCACGCGCCGCCACGAGTGAGCCCAGCGCGACCGCGGGCG
TCCGCCGAGCAGCTGGCCCGGCTGGGCCCGGGGCGCGCAGCTGCCCGCCGGGGCGGGGTGGAGCTGATCAGAATAATGTTCAGCATCAAC
CCCCTGGAGAACCTGAAGGTGTACATCAGCAGTCGGCCTCCCCTGGTGGTCTTCATGATCAGCGTAAGCGCCATGGCCATAGCTTTCCTG
ACCCTGGGCTACTTCTTCAAAATCAAGGAGATTAAATCCCCAGAAATGGCAGAGGTGCCGTGCTACTCATATGGGCAGAAGCTGTCCAAA
CTGGCCATCCTGAGGATCGCCTGTAACTACATCCTGTCCCTGGCGCGGCTGGCTGACCTTGACTACAGTGCCGACCACAGCAACCTCAGC
TTCTCCGAGTGTGTGCAGCGCTGCACCCGCACCCTGCAGGCCGAGGGACGTGCCAAGAAGCGCAAGGAGTGACTGGCTGCAGGCAAGACC
AAGGCCACCACTGTGGGCCCTCCTTCCAGTCAGGCCTGAGGACAAGGTGAGCTCGCTGAGTCCAGCCTCGTGGTCTTCTCCAAGATGCCG
CCAGATGCCCAGCCTACAGCCTCTCAGGGTCGGATCGGAGCACGCCTGCCTCCCTCTCCCCTCCGCCCTCACCCAGCCAATCCGAGGCTG
CTTCGCACTTTGCCCTCTGCCTGGTGGGGAGGGGAGAGCTCAGCCCCCGACTCACTCAGACCCCAAGGCCCACTGTCCAGCTGCAGAAAT
TCGTTGCCAAAGATTGGACAGAGACACCGAAGGAAATGGGGTGGTGAAACCCCACAGCGAAAAGCCACACCGTTGCTCTGTGACTTTTGC
TCCTCCTGTTGCCTGAGCCCCATCTCAAGCCAAAGATGAGTCAGTGGTTCTGCTAGGAACTCATGGAATGGATGGGCATTTGATGACCCC
TGGGGGTCATCTTGGCCCTCTGACCTGGTGCTCTCTCTCCACTGGGCCTTGTGCTGGCTGAGTGCAAGACAAGCCTTAGGGGCTGTGAGA
GGGAGGCTGGGGTGCCTGGGCGGGGCTGGGAGTGGGACCTGAGATCCCTGCCCACTCTCTCCCCTTCATTGGCTGCCCAGGCCACTGGCC
CCAGTTCTCAGTGTCCCTTGGGTCCAGGCTCCTTGGGCCCTAAGCATCACCAGAAGGGAGTAAGCAGGGAGAGAAGCAATATTACTCCCT
CCCCTACACCAGGGACTTGCCCCAGGGCAGCTACCTATGGGTCTTTGCTTCCCCAGCCAGCCTCTCCTCACTGTGACCCACCCCCATGGG
CCCCCGTCCCAGGCAGCCAGCACCATGGGCAGGCCCTGCCATGGACAGAAAAAGAGTTTTTCTCTTGTTCAGCCTGCACGTGGCCTGAGG
AAGGAGTAGAGGCTGGGTTGGCTGGAGCCGTCCTACTGGGCAAGATGGCGCCCCACTTGGAGGGCGGTGGTCTGTTACAGGGTGTGCAGG
GGCAGAGAAGGAAGGGACCAGGGGACTGGGCCAGTATGTGGAGGATGGGGCCTGCGTGTTCAAAGCCAAGGCCCGCCCCTTCCTTGTGCT

>91995_91995_1_TMEM248-ATOH8_TMEM248_chr7_66407011_ENST00000341567_ATOH8_chr2_85991114_ENST00000306279_length(amino acids)=214AA_BP=
MGLVLAECKTSLRGCEREAGVPGRGWEWDLRSLPTLSPSLAAQATGPSSQCPLGPGSLGPKHHQKGVSRERSNITPSPTPGTCPRAATYG
SLLPQPASPHCDPPPWAPVPGSQHHGQALPWTEKEFFSCSACTWPEEGVEAGLAGAVLLGKMAPHLEGGGLLQGVQGQRRKGPGDWASMW

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

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Fusion Gene PPI Analysis for TMEM248-ATOH8


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 TMEM248-ATOH8


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 TMEM248-ATOH8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human