Home

Download

Statistics

Examples

Help

Contact

	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:TM6SF2-RPS5 (FusionGDB2 ID:91229)

Fusion Gene Summary for TM6SF2-RPS5

Fusion gene summary

Fusion gene information	Fusion gene name: TM6SF2-RPS5
	Fusion gene ID: 91229
		Hgene	Tgene
	Gene symbol	TM6SF2	RPS5
	Gene ID	53345	6193
	Gene name	transmembrane 6 superfamily member 2	ribosomal protein S5
	Synonyms	-	S5
	Cytomap	19p13.11	19q13.43
	Type of gene	protein-coding	protein-coding
	Description	transmembrane 6 superfamily member 2	40S ribosomal protein S5small ribosomal subunit protein uS7
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000586107, ENST00000389363,	ENST00000196551, ENST00000596046, ENST00000598098, ENST00000598495, ENST00000601521,
Fusion gene scores	* DoF score	1 X 1 X 1=1	13 X 13 X 4=676
	# samples	1	13
	** MAII score	log2(1/1*10)=3.32192809488736	log2(13/676*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: TM6SF2 [Title/Abstract] AND RPS5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	TM6SF2(19383929)-RPS5(58905863), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	TM6SF2	GO:0019216	regulation of lipid metabolic process	24927523

Fusion gene breakpoints across TM6SF2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across RPS5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	BRCA	TCGA-B6-A40B	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+

Top

Fusion Gene ORF analysis for TM6SF2-RPS5

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000586107	ENST00000196551	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
5UTR-3CDS	ENST00000586107	ENST00000596046	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
5UTR-3CDS	ENST00000586107	ENST00000598098	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
5UTR-3CDS	ENST00000586107	ENST00000598495	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
5UTR-3CDS	ENST00000586107	ENST00000601521	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
In-frame	ENST00000389363	ENST00000196551	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
In-frame	ENST00000389363	ENST00000596046	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
In-frame	ENST00000389363	ENST00000598098	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
In-frame	ENST00000389363	ENST00000598495	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+
In-frame	ENST00000389363	ENST00000601521	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000389363	TM6SF2	chr19	19383929	-	ENST00000601521	RPS5	chr19	58905863	+	392	168	28	390	121
ENST00000389363	TM6SF2	chr19	19383929	-	ENST00000598098	RPS5	chr19	58905863	+	390	168	28	387	120
ENST00000389363	TM6SF2	chr19	19383929	-	ENST00000598495	RPS5	chr19	58905863	+	386	168	28	384	119
ENST00000389363	TM6SF2	chr19	19383929	-	ENST00000196551	RPS5	chr19	58905863	+	389	168	28	387	120
ENST00000389363	TM6SF2	chr19	19383929	-	ENST00000596046	RPS5	chr19	58905863	+	392	168	28	390	121

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000389363	ENST00000601521	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	0.66107947	0.33892047
ENST00000389363	ENST00000598098	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	0.65129817	0.34870186
ENST00000389363	ENST00000598495	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	0.6581493	0.34185064
ENST00000389363	ENST00000196551	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	0.66061944	0.3393805
ENST00000389363	ENST00000596046	TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	0.66107947	0.33892047

Top

Fusion Genomic Features for TM6SF2-RPS5

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	2.35E-06	0.9999976
TM6SF2	chr19	19383929	-	RPS5	chr19	58905863	+	2.35E-06	0.9999976

Distribution 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.

Distribution 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.

Top

Fusion Protein Features for TM6SF2-RPS5

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:19383929/chr19:58905863)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

10_30

378.0

Transmembrane

Helical%3B Name%3D1

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

217_351

378.0

Domain

EXPERA 2

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

61_186

378.0

Domain

EXPERA 1

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

111_131

378.0

Transmembrane

Helical%3B Name%3D4

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

140_160

378.0

Transmembrane

Helical%3B Name%3D5

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

170_190

378.0

Transmembrane

Helical%3B Name%3D6

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

219_239

378.0

Transmembrane

Helical%3B Name%3D7

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

269_289

378.0

Transmembrane

Helical%3B Name%3D8

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

332_352

378.0

Transmembrane

Helical%3B Name%3D9

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

34_54

378.0

Transmembrane

Helical%3B Name%3D2

Hgene

TM6SF2

chr19:19383929

chr19:58905863

ENST00000389363

63_83

378.0

Transmembrane

Helical%3B Name%3D3

Top

Fusion Gene Sequence for TM6SF2-RPS5

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.

>91229_91229_1_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000196551_length(transcript)=389nt_BP=168nt
ACTCGCCGCCAACGAGGAGCCGAGCGCCCTGGAGAACGCGTCGGGGCTGAGCCGGGGTCCAGCAGCCGCCGCTATGGACATCCCGCCGCT
GGCCGGCAAGATCGCGGCGCTGTCGCTGAGCGCCCTCCCGGTGTCCTACGCGCTCAACCACGTCTCGGCGCTCTCGCAGCCATCTGGCTG
CTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGGC
TCCTCGAACTCCTATGCCATTAAGAAGAAGGACGAGCTGGAGCGTGTGGCCAAGTCCAACCGCTGATTTTCCCAGCTGCTGCCCAATAAA

>91229_91229_1_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000196551_length(amino acids)=120AA_BP=47
MENASGLSRGPAAAAMDIPPLAGKIAALSLSALPVSYALNHVSALSQPSGCCAQALVRLPSGTLRPLLSAWQMSSSMLPRAPRTPMPLRR

--------------------------------------------------------------
>91229_91229_2_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000596046_length(transcript)=392nt_BP=168nt
ACTCGCCGCCAACGAGGAGCCGAGCGCCCTGGAGAACGCGTCGGGGCTGAGCCGGGGTCCAGCAGCCGCCGCTATGGACATCCCGCCGCT
GGCCGGCAAGATCGCGGCGCTGTCGCTGAGCGCCCTCCCGGTGTCCTACGCGCTCAACCACGTCTCGGCGCTCTCGCAGCCATCTGGCTG
CTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGGC
TCCTCGAACTCCTATGCCATTAAGAAGAAGGACGAGCTGGAGCGTGTGGCCAAGTCCAACCGCTGATTTTCCCAGCTGCTGCCCAATAAA

>91229_91229_2_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000596046_length(amino acids)=121AA_BP=47
MENASGLSRGPAAAAMDIPPLAGKIAALSLSALPVSYALNHVSALSQPSGCCAQALVRLPSGTLRPLLSAWQMSSSMLPRAPRTPMPLRR

--------------------------------------------------------------
>91229_91229_3_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000598098_length(transcript)=390nt_BP=168nt
ACTCGCCGCCAACGAGGAGCCGAGCGCCCTGGAGAACGCGTCGGGGCTGAGCCGGGGTCCAGCAGCCGCCGCTATGGACATCCCGCCGCT
GGCCGGCAAGATCGCGGCGCTGTCGCTGAGCGCCCTCCCGGTGTCCTACGCGCTCAACCACGTCTCGGCGCTCTCGCAGCCATCTGGCTG
CTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGGC
TCCTCGAACTCCTATGCCATTAAGAAGAAGGACGAGCTGGAGCGTGTGGCCAAGTCCAACCGCTGATTTTCCCAGCTGCTGCCCAATAAA

>91229_91229_3_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000598098_length(amino acids)=120AA_BP=47
MENASGLSRGPAAAAMDIPPLAGKIAALSLSALPVSYALNHVSALSQPSGCCAQALVRLPSGTLRPLLSAWQMSSSMLPRAPRTPMPLRR

--------------------------------------------------------------
>91229_91229_4_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000598495_length(transcript)=386nt_BP=168nt
ACTCGCCGCCAACGAGGAGCCGAGCGCCCTGGAGAACGCGTCGGGGCTGAGCCGGGGTCCAGCAGCCGCCGCTATGGACATCCCGCCGCT
GGCCGGCAAGATCGCGGCGCTGTCGCTGAGCGCCCTCCCGGTGTCCTACGCGCTCAACCACGTCTCGGCGCTCTCGCAGCCATCTGGCTG
CTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGGC
TCCTCGAACTCCTATGCCATTAAGAAGAAGGACGAGCTGGAGCGTGTGGCCAAGTCCAACCGCTGATTTTCCCAGCTGCTGCCCAATAAA

>91229_91229_4_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000598495_length(amino acids)=119AA_BP=47
MENASGLSRGPAAAAMDIPPLAGKIAALSLSALPVSYALNHVSALSQPSGCCAQALVRLPSGTLRPLLSAWQMSSSMLPRAPRTPMPLRR

--------------------------------------------------------------
>91229_91229_5_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000601521_length(transcript)=392nt_BP=168nt
ACTCGCCGCCAACGAGGAGCCGAGCGCCCTGGAGAACGCGTCGGGGCTGAGCCGGGGTCCAGCAGCCGCCGCTATGGACATCCCGCCGCT
GGCCGGCAAGATCGCGGCGCTGTCGCTGAGCGCCCTCCCGGTGTCCTACGCGCTCAACCACGTCTCGGCGCTCTCGCAGCCATCTGGCTG
CTGTGCACAGGCGCTCGTGAGGCTGCCTTCCGGAACATTAAGACCATTGCTGAGTGCCTGGCAGATGAGCTCATCAATGCTGCCAAGGGC
TCCTCGAACTCCTATGCCATTAAGAAGAAGGACGAGCTGGAGCGTGTGGCCAAGTCCAACCGCTGATTTTCCCAGCTGCTGCCCAATAAA

>91229_91229_5_TM6SF2-RPS5_TM6SF2_chr19_19383929_ENST00000389363_RPS5_chr19_58905863_ENST00000601521_length(amino acids)=121AA_BP=47
MENASGLSRGPAAAAMDIPPLAGKIAALSLSALPVSYALNHVSALSQPSGCCAQALVRLPSGTLRPLLSAWQMSSSMLPRAPRTPMPLRR

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

Top

Fusion Gene PPI Analysis for TM6SF2-RPS5

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs for TM6SF2-RPS5

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

Related Diseases for TM6SF2-RPS5

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source