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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:TTN-MRPL34 (FusionGDB2 ID:95222)

Fusion Gene Summary for TTN-MRPL34

check button Fusion gene summary
Fusion gene informationFusion gene name: TTN-MRPL34
Fusion gene ID: 95222
HgeneTgene
Gene symbol

TTN

MRPL34

Gene ID

7273

64981

Gene nametitinmitochondrial ribosomal protein L34
SynonymsCMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMDL34mt
Cytomap

2q31.2

19p13.11

Type of geneprotein-codingprotein-coding
Descriptiontitinconnectinrhabdomyosarcoma antigen MU-RMS-40.1439S ribosomal protein L34, mitochondrialMRP-L34mitochondrial large ribosomal subunit protein bL34m
Modification date2020032820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000342175, ENST00000342992, 
ENST00000359218, ENST00000360870, 
ENST00000460472, ENST00000589042, 
ENST00000591111, 		ENST00000252602, 
ENST00000602206, ENST00000594999, 
ENST00000595444, ENST00000597996, 
ENST00000600434, 
Fusion gene scores* DoF score16 X 18 X 6=17282 X 2 X 1=4
# samples 182
** MAII scorelog2(18/1728*10)=-3.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: TTN [Title/Abstract] AND MRPL34 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTTN(179554605)-MRPL34(17417464), # 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
HgeneTTN

GO:0035995

detection of muscle stretch

18765796

HgeneTTN

GO:0051592

response to calcium ion

7607248


check buttonFusion gene breakpoints across TTN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MRPL34 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChiTaRS5.0N/AZ19494TTNchr2

179554605

+MRPL34chr19

17417464

-


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Fusion Gene ORF analysis for TTN-MRPL34

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-3UTRENST00000342175ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000342175ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000342992ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000342992ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000359218ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000359218ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000360870ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000360870ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000460472ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000460472ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000589042ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000589042ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000591111ENST00000252602TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-3UTRENST00000591111ENST00000602206TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342175ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342175ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342175ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342175ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342992ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342992ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342992ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000342992ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000359218ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000359218ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000359218ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000359218ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000360870ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000360870ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000360870ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000360870ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000460472ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000460472ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000460472ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000460472ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000589042ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000589042ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000589042ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000589042ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000591111ENST00000594999TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000591111ENST00000595444TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000591111ENST00000597996TTNchr2

179554605

+MRPL34chr19

17417464

-
intron-intronENST00000591111ENST00000600434TTNchr2

179554605

+MRPL34chr19

17417464

-

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 TTN-MRPL34


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)

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.

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.

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Fusion Protein Features for TTN-MRPL34


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/:179554605/:17417464)
- 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 TTN-MRPL34


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 TTN-MRPL34


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 TTN-MRPL34


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 TTN-MRPL34


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