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	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:TMEM242-SRSF5 (FusionGDB2 ID:91974)

Fusion Gene Summary for TMEM242-SRSF5

Fusion gene summary

Fusion gene information	Fusion gene name: TMEM242-SRSF5
	Fusion gene ID: 91974
		Hgene	Tgene
	Gene symbol	TMEM242	SRSF5
	Gene ID	729515	6430
	Gene name	transmembrane protein 242	serine and arginine rich splicing factor 5
	Synonyms	BM033\|C6orf35	HRS\|SFRS5\|SRP40
	Cytomap	6q25.3	14q24.1
	Type of gene	protein-coding	protein-coding
	Description	transmembrane protein 242UPF0463 transmembrane protein C6orf35	serine/arginine-rich splicing factor 5SR splicing factor 5delayed-early protein HRSpre-mRNA-splicing factor SRP40splicing factor, arginine/serine-rich 5
	Modification date	20200313	20200320
	UniProtAcc	Q9NWH2	.
	Ensembl transtripts involved in fusion gene	ENST00000400788, ENST00000367144,	ENST00000556587, ENST00000451983, ENST00000553548, ENST00000553635, ENST00000554021, ENST00000555349, ENST00000557154, ENST00000394366, ENST00000553521,
Fusion gene scores	* DoF score	6 X 2 X 5=60	10 X 8 X 4=320
	# samples	8	10
	** MAII score	log2(8/60*10)=0.415037499278844 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(10/320*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: TMEM242 [Title/Abstract] AND SRSF5 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	TMEM242(157739814)-SRSF5(70237184), # 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

Fusion gene breakpoints across TMEM242 (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 SRSF5 (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	STAD	TCGA-FP-8210-01A	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+

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Fusion Gene ORF analysis for TMEM242-SRSF5

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
5CDS-3UTR	ENST00000400788	ENST00000556587	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
5CDS-intron	ENST00000400788	ENST00000451983	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
5CDS-intron	ENST00000400788	ENST00000553548	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
5CDS-intron	ENST00000400788	ENST00000553635	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
5CDS-intron	ENST00000400788	ENST00000554021	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
5CDS-intron	ENST00000400788	ENST00000555349	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
5CDS-intron	ENST00000400788	ENST00000557154	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
In-frame	ENST00000400788	ENST00000394366	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
In-frame	ENST00000400788	ENST00000553521	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-3CDS	ENST00000367144	ENST00000394366	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-3CDS	ENST00000367144	ENST00000553521	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-3UTR	ENST00000367144	ENST00000556587	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-intron	ENST00000367144	ENST00000451983	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-intron	ENST00000367144	ENST00000553548	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-intron	ENST00000367144	ENST00000553635	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-intron	ENST00000367144	ENST00000554021	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-intron	ENST00000367144	ENST00000555349	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+
intron-intron	ENST00000367144	ENST00000557154	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+

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)

ENST00000400788

TMEM242

chr6

157739814

ENST00000553521

SRSF5

chr14

70237184

1425

429

102

881

259

ENST00000400788

TMEM242

chr6

157739814

ENST00000394366

SRSF5

chr14

70237184

1394

429

102

881

259

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
ENST00000400788	ENST00000553521	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+	0.043662455	0.9563375
ENST00000400788	ENST00000394366	TMEM242	chr6	157739814	-	SRSF5	chr14	70237184	+	0.045588013	0.95441204

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Fusion Genomic Features for TMEM242-SRSF5

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)
TMEM242	chr6	157739813	-	SRSF5	chr14	70237183	+	0.002382082	0.9976179
TMEM242	chr6	157739813	-	SRSF5	chr14	70237183	+	0.002382082	0.9976179

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.

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Fusion Protein Features for TMEM242-SRSF5

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:157739814/chr14:70237184)
- 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
TMEM242 Q9NWH2	.
	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

TMEM242

chr6:157739814

chr14:70237184

ENST00000400788

30_50

109

142.0

Transmembrane

Helical

Hgene

TMEM242

chr6:157739814

chr14:70237184

ENST00000400788

82_102

109

142.0

Transmembrane

Helical

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000394366

182_267

122

273.0

Compositional bias

Note=Arg/Ser-rich (RS domain)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553521

182_267

122

273.0

Compositional bias

Note=Arg/Ser-rich (RS domain)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553635

182_267

119

270.0

Compositional bias

Note=Arg/Ser-rich (RS domain)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000557154

182_267

122

273.0

Compositional bias

Note=Arg/Ser-rich (RS domain)

- 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

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000394366

78_83

122

273.0

Compositional bias

Note=Gly-rich (hinge region)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553521

78_83

122

273.0

Compositional bias

Note=Gly-rich (hinge region)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553635

78_83

119

270.0

Compositional bias

Note=Gly-rich (hinge region)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000557154

78_83

122

273.0

Compositional bias

Note=Gly-rich (hinge region)

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000394366

108_181

122

273.0

Domain

RRM 2

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000394366

4_74

122

273.0

Domain

RRM 1

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553521

108_181

122

273.0

Domain

RRM 2

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553521

4_74

122

273.0

Domain

RRM 1

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553635

108_181

119

270.0

Domain

RRM 2

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000553635

4_74

119

270.0

Domain

RRM 1

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000557154

108_181

122

273.0

Domain

RRM 2

Tgene

SRSF5

chr6:157739814

chr14:70237184

ENST00000557154

4_74

122

273.0

Domain

RRM 1

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Fusion Gene Sequence for TMEM242-SRSF5

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.

>91974_91974_1_TMEM242-SRSF5_TMEM242_chr6_157739814_ENST00000400788_SRSF5_chr14_70237184_ENST00000394366_length(transcript)=1394nt_BP=429nt
AGATTGCACAGGAGGAGGCGGTAGCGGAACCTTTCTCCTCCGCCTGGTTCTCGCTTCCACCCGGGCCCAGTTGGGGACGGACGCACTAGA
GGCGACCTAAACATGGAGACAGCGGGCGCTGCAACTGGGCAGCCGGCCTCTGGGCTGGAGGCTCCGGGGTCCACGAATGACCGGCTTTTC
CTGGTTAAAGGTGGAATTTTCCTTGGTACCGTTGCTGCAGCGGGAATGCTAGCTGGATTTATTACAACATTATCATTGGCTAAAAAGAAA
AGCCCTGAATGGTTCAATAAGGGAAGTATGGCCACGGCTGCATTACCGGAAAGCGGGTCTTCCCTTGCCTTGCGAGCTCTGGGCTGGGGC
TCCCTGTATGCATGGTGTGGGGTTGGTGTGATTAGCTTCGCAGTCTGGAAAGCTTTAGGAGTTCACAGTGATCTCAAAGATTTCATGAGA
CAAGCTGGGGAAGTAACGTTTGCGGATGCACACCGACCTAAATTAAATGAAGGGGTGGTTGAGTTTGCCTCTTATGGTGACTTAAAGAAT
GCTATTGAAAAACTTTCTGGAAAGGAAATAAATGGGAGAAAAATAAAATTAATTGAAGGCAGCAAAAGGCACAGTAGGTCAAGAAGCAGG
TCTCGATCCCGGACCAGAAGTTCCTCTAGGTCTCGTAGCCGATCCCGTTCCCGTAGTCGCAAATCTTACAGCCGGTCAAGAAGCAGGAGC
AGGAGCCGGAGCCGGAGCAAGTCCCGTTCTGTTAGTAGGTCTCCCGTGCCTGAGAAGAGCCAGAAACGTGGTTCTTCAAGTAGATCTAAG
TCTCCAGCATCTGTGGATCGCCAGAGGTCCCGGTCCCGATCAAGGTCCAGATCAGTTGACAGTGGCAATTAAACTGTAAATAACTTGCCC
TGGGGGCCTTTTTTTAAAAAACAAAAACCACAAAAATTCCCAAACCATACTTGCTAAAAATTCTGGTAAGTATGTGCTTTTCTGTGGGGG
TGGGATTTGGAAGGGGGGTTGGGTTGGGCTGGATATCTTTGTAGATGTGGACCACCAAGGGGTTGTTGAAAACTAATTGTATTAAATGTC
TTTTGATAAGCCTTCTGCTCACATTTTTGTGAATGTCTGAAGTATATAGTTTGTGTATATTGACAGAGCTCTTTTATAACTAAAGCAAAT
TTAATTTTTTTGTACTAGAAAAAAATTTGAACATTTTAGTTCTTGGTTATAAAAATGTTAATTCAGAATTAGTTTAATGCCTTAATTAAA
CTAATTAATAGCTTTGGACACTTAAAAGAGCTCTAAATTTGCTTGTACATAAAGGCTTAATTTGTTTTCCTTGTTAGGGTCAAGGGTGTC

>91974_91974_1_TMEM242-SRSF5_TMEM242_chr6_157739814_ENST00000400788_SRSF5_chr14_70237184_ENST00000394366_length(amino acids)=259AA_BP=109
METAGAATGQPASGLEAPGSTNDRLFLVKGGIFLGTVAAAGMLAGFITTLSLAKKKSPEWFNKGSMATAALPESGSSLALRALGWGSLYA
WCGVGVISFAVWKALGVHSDLKDFMRQAGEVTFADAHRPKLNEGVVEFASYGDLKNAIEKLSGKEINGRKIKLIEGSKRHSRSRSRSRSR

--------------------------------------------------------------
>91974_91974_2_TMEM242-SRSF5_TMEM242_chr6_157739814_ENST00000400788_SRSF5_chr14_70237184_ENST00000553521_length(transcript)=1425nt_BP=429nt
AGATTGCACAGGAGGAGGCGGTAGCGGAACCTTTCTCCTCCGCCTGGTTCTCGCTTCCACCCGGGCCCAGTTGGGGACGGACGCACTAGA
GGCGACCTAAACATGGAGACAGCGGGCGCTGCAACTGGGCAGCCGGCCTCTGGGCTGGAGGCTCCGGGGTCCACGAATGACCGGCTTTTC
CTGGTTAAAGGTGGAATTTTCCTTGGTACCGTTGCTGCAGCGGGAATGCTAGCTGGATTTATTACAACATTATCATTGGCTAAAAAGAAA
AGCCCTGAATGGTTCAATAAGGGAAGTATGGCCACGGCTGCATTACCGGAAAGCGGGTCTTCCCTTGCCTTGCGAGCTCTGGGCTGGGGC
TCCCTGTATGCATGGTGTGGGGTTGGTGTGATTAGCTTCGCAGTCTGGAAAGCTTTAGGAGTTCACAGTGATCTCAAAGATTTCATGAGA
CAAGCTGGGGAAGTAACGTTTGCGGATGCACACCGACCTAAATTAAATGAAGGGGTGGTTGAGTTTGCCTCTTATGGTGACTTAAAGAAT
GCTATTGAAAAACTTTCTGGAAAGGAAATAAATGGGAGAAAAATAAAATTAATTGAAGGCAGCAAAAGGCACAGTAGGTCAAGAAGCAGG
TCTCGATCCCGGACCAGAAGTTCCTCTAGGTCTCGTAGCCGATCCCGTTCCCGTAGTCGCAAATCTTACAGCCGGTCAAGAAGCAGGAGC
AGGAGCCGGAGCCGGAGCAAGTCCCGTTCTGTTAGTAGGTCTCCCGTGCCTGAGAAGAGCCAGAAACGTGGTTCTTCAAGTAGATCTAAG
TCTCCAGCATCTGTGGATCGCCAGAGGTCCCGGTCCCGATCAAGGTCCAGATCAGTTGACAGTGGCAATTAAACTGTAAATAACTTGCCC
TGGGGGCCTTTTTTTAAAAAACAAAAACCACAAAAATTCCCAAACCATACTTGCTAAAAATTCTGGTAAGTATGTGCTTTTCTGTGGGGG
TGGGATTTGGAAGGGGGGTTGGGTTGGGCTGGATATCTTTGTAGATGTGGACCACCAAGGGGTTGTTGAAAACTAATTGTATTAAATGTC
TTTTGATAAGCCTTCTGCTCACATTTTTGTGAATGTCTGAAGTATATAGTTTGTGTATATTGACAGAGCTCTTTTATAACTAAAGCAAAT
TTAATTTTTTTGTACTAGAAAAAAATTTGAACATTTTAGTTCTTGGTTATAAAAATGTTAATTCAGAATTAGTTTAATGCCTTAATTAAA
CTAATTAATAGCTTTGGACACTTAAAAGAGCTCTAAATTTGCTTGTACATAAAGGCTTAATTTGTTTTCCTTGTTAGGGTCAAGGGTGTC

>91974_91974_2_TMEM242-SRSF5_TMEM242_chr6_157739814_ENST00000400788_SRSF5_chr14_70237184_ENST00000553521_length(amino acids)=259AA_BP=109
METAGAATGQPASGLEAPGSTNDRLFLVKGGIFLGTVAAAGMLAGFITTLSLAKKKSPEWFNKGSMATAALPESGSSLALRALGWGSLYA
WCGVGVISFAVWKALGVHSDLKDFMRQAGEVTFADAHRPKLNEGVVEFASYGDLKNAIEKLSGKEINGRKIKLIEGSKRHSRSRSRSRSR

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

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Fusion Gene PPI Analysis for TMEM242-SRSF5

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

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Related Drugs for TMEM242-SRSF5

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

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Related Diseases for TMEM242-SRSF5

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source