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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:ETNK1-TSPAN13 (FusionGDB2 ID:27666)

Fusion Gene Summary for ETNK1-TSPAN13

Fusion gene summary

Fusion gene information	Fusion gene name: ETNK1-TSPAN13
	Fusion gene ID: 27666
		Hgene	Tgene
	Gene symbol	ETNK1	TSPAN13
	Gene ID	55500	27075
	Gene name	ethanolamine kinase 1	tetraspanin 13
	Synonyms	EKI\|EKI 1\|EKI1\|Nbla10396	NET-6\|NET6\|TM4SF13
	Cytomap	12p12.1	7p21.1
	Type of gene	protein-coding	protein-coding
	Description	ethanolamine kinase 1putative protein product of Nbla10396	tetraspanin-13tetraspan NET-6transmembrane 4 superfamily member 13transmembrane 4 superfamily member tetraspan NET-6tspan-13
	Modification date	20200313	20200313
	UniProtAcc	Q9HBU6	.
	Ensembl transtripts involved in fusion gene	ENST00000266517, ENST00000335148,	ENST00000466195, ENST00000262067,
Fusion gene scores	* DoF score	11 X 7 X 7=539	7 X 6 X 6=252
	# samples	14	9
	** MAII score	log2(14/539*10)=-1.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/252*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ETNK1 [Title/Abstract] AND TSPAN13 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ETNK1(22778520)-TSPAN13(16815836), # 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	ETNK1	GO:0006646	phosphatidylethanolamine biosynthetic process	11044454

Fusion gene breakpoints across ETNK1 (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 TSPAN13 (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-B7-5818-01A	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+

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Fusion Gene ORF analysis for ETNK1-TSPAN13

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	ENST00000266517	ENST00000466195	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+
5CDS-3UTR	ENST00000335148	ENST00000466195	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+
In-frame	ENST00000266517	ENST00000262067	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+
In-frame	ENST00000335148	ENST00000262067	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+

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)

ENST00000266517

ETNK1

chr12

22778520

ENST00000262067

TSPAN13

chr7

16815836

2109

512

1063

324

ENST00000335148

ETNK1

chr12

22778520

ENST00000262067

TSPAN13

chr7

16815836

2043

446

997

324

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
ENST00000266517	ENST00000262067	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+	0.011312356	0.98868763
ENST00000335148	ENST00000262067	ETNK1	chr12	22778520	+	TSPAN13	chr7	16815836	+	0.009230932	0.9907691

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Fusion Genomic Features for ETNK1-TSPAN13

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)
ETNK1	chr12	22778520	+	TSPAN13	chr7	16815835	+	5.09E-07	0.9999995
ETNK1	chr12	22778520	+	TSPAN13	chr7	16815835	+	5.09E-07	0.9999995

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 ETNK1-TSPAN13

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:22778520/chr7:16815836)
- 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
ETNK1 Q9HBU6	.
FUNCTION: Highly specific for ethanolamine phosphorylation. May be a rate-controlling step in phosphatidylethanolamine biosynthesis. {ECO:0000269\|PubMed:11044454}.	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

ETNK1

chr12:22778520

chr7:16815836

ENST00000266517

73_83

141

453.0

Compositional bias

Note=Poly-Val

Hgene

ETNK1

chr12:22778520

chr7:16815836

ENST00000335148

73_83

141

259.0

Compositional bias

Note=Poly-Val

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

189_204

205.0

Topological domain

Cytoplasmic

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

41_44

205.0

Topological domain

Extracellular

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

66_72

205.0

Topological domain

Cytoplasmic

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

94_167

205.0

Topological domain

Extracellular

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

168_188

205.0

Transmembrane

Helical

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

20_40

205.0

Transmembrane

Helical

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

45_65

205.0

Transmembrane

Helical

Tgene

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

73_93

205.0

Transmembrane

Helical

- 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

TSPAN13

chr12:22778520

chr7:16815836

ENST00000262067

1_19

205.0

Topological domain

Cytoplasmic

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Fusion Gene Sequence for ETNK1-TSPAN13

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.

>27666_27666_1_ETNK1-TSPAN13_ETNK1_chr12_22778520_ENST00000266517_TSPAN13_chr7_16815836_ENST00000262067_length(transcript)=2109nt_BP=512nt
GTGACCGGAGGCGAGAAACCCCGCCTCGGCACCCTGACGCAGCGCAGGACCCGCCCCGCGCGTGACGCCAGCGTCAGGCCAGCCCCGGCA
TGCTCTGCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCAGTTCAGCTGCTGTCCAGACCCGGA
TCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCCTCCCGCGAGGGCGCCCCGGGACGG
AAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAGTCTCCGCCGTCGCCTGGGCCATGG
CCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATCAGGAGGAGCATCGCTGCCGGGAGG
GGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAGTTGGTTAGTCTGCTGCTAATTGGAATTG
CTGCGTGGGGCATTGGCTTCGGGCTGATTTCCAGTCTCCGAGTGGTCGGCGTGGTCATTGCAGTGGGCATCTTCTTGTTCCTGATTGCTT
TAGTGGGTCTGATTGGAGCTGTAAAACATCATCAGGTGTTGCTATTTTTTTATATGATTATTCTGTTACTTGTATTTATTGTTCAGTTTT
CTGTATCTTGCGCTTGTTTAGCCCTGAACCAGGAGCAACAGGGTCAGCTTCTGGAGGTTGGTTGGAACAATACGGCAAGTGCTCGAAATG
ACATCCAGAGAAATCTAAACTGCTGTGGGTTCCGAAGTGTTAACCCAAATGACACCTGTCTGGCTAGCTGTGTTAAAAGTGACCACTCGT
GCTCGCCATGTGCTCCAATCATAGGAGAATATGCTGGAGAGGTTTTGAGATTTGTTGGTGGCATTGGCCTGTTCTTCAGTTTTACAGAGA
TCCTGGGTGTTTGGCTGACCTACAGATACAGGAACCAGAAAGACCCCCGCGCGAATCCTAGTGCATTCCTTTGATGAGAAAACAAGGAAG
ATTTCCTTTCGTATTATGATCTTGTTCACTTTCTGTAATTTTCTGTTAAGCTCCATTTGCCAGTTTAAGGAAGGAAACACTATCTGGAAA
AGTACCTTATTGATAGTGGAATTATATATTTTTACTCTATGTTTCTCTACATGTTTTTTTCTTTCCGTTGCTGAAAAATATTTGAAACTT
GTGGTCTCTGAAGCTCGGTGGCACCTGGAATTTACTGTATTCATTGTCGGGCACTGTCCACTGTGGCCTTTCTTAGCATTTTTACCTGCA
GAAAAACTTTGTATGGTACCACTGTGTTGGTTATATGGTGAATCTGAACGTACATCTCACTGGTATAATTATATGTAGCACTGTGCTGTG
TAGATAGTTCCTACTGGAAAAAGAGTGGAAATTTATTAAAATCAGAAAGTATGAGATCCTGTTATGTTAAGGGAAATCCAAATTCCCAAT
TTTTTTTGGTCTTTTTAGGAAAGATTGTTGTGGTAAAAAGTGTTAGTATAAAAATGATAATTTACTTGTAGTCTTTTATGATTACACCAA
TGTATTCTAGAAATAGTTATGTCTTAGGAAATTGTGGTTTAATTTTTGACTTTTACAGGTAAGTGCAAAGGAGAAGTGGTTTCATGAAAT
GTTCTAATGTATAATAACATTTACCTTCAGCCTCCATCAGAATGGAACGAGTTTTGAGTAATCAGGAAGTATATCTATATGATCTTGATA
TTGTTTTATAATAATTTGAAGTCTAAAAGACTGCATTTTTAAACAAGTTAGTATTAATGCGTTGGCCCACGTAGCAAAAAGATATTTGAT
TATCTTAAAAATTGTTAAATACCGTTTTCATGAAATTTCTCAGTATTGTAACAGCAACTTGTCAAACCTAAGCATATTTGAATATGATCT
CCCATAATTTGAAATTGAAATCGTATTGTGTGGCTCTGTATATTCTGTTAAAAAATTAAAGGACAGAAACCTTTCTTTGTGTATGCATGT

>27666_27666_1_ETNK1-TSPAN13_ETNK1_chr12_22778520_ENST00000266517_TSPAN13_chr7_16815836_ENST00000262067_length(amino acids)=324AA_BP=137
MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGTEGSTSLSAPAVLVVAVAVVVVVVSAVAWAM
ANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTLQLVSLLLIGIAAWGIGFGLISSLRVVGVVIAVGIFLFLIA
LVGLIGAVKHHQVLLFFYMIILLLVFIVQFSVSCACLALNQEQQGQLLEVGWNNTASARNDIQRNLNCCGFRSVNPNDTCLASCVKSDHS

--------------------------------------------------------------
>27666_27666_2_ETNK1-TSPAN13_ETNK1_chr12_22778520_ENST00000335148_TSPAN13_chr7_16815836_ENST00000262067_length(transcript)=2043nt_BP=446nt
GCCAGCGTCAGGCCAGCCCCGGCATGCTCTGCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCA
GTTCAGCTGCTGTCCAGACCCGGATCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCC
TCCCGCGAGGGCGCCCCGGGACGGAAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAG
TCTCCGCCGTCGCCTGGGCCATGGCCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATC
AGGAGGAGCATCGCTGCCGGGAGGGGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAGTTGG
TTAGTCTGCTGCTAATTGGAATTGCTGCGTGGGGCATTGGCTTCGGGCTGATTTCCAGTCTCCGAGTGGTCGGCGTGGTCATTGCAGTGG
GCATCTTCTTGTTCCTGATTGCTTTAGTGGGTCTGATTGGAGCTGTAAAACATCATCAGGTGTTGCTATTTTTTTATATGATTATTCTGT
TACTTGTATTTATTGTTCAGTTTTCTGTATCTTGCGCTTGTTTAGCCCTGAACCAGGAGCAACAGGGTCAGCTTCTGGAGGTTGGTTGGA
ACAATACGGCAAGTGCTCGAAATGACATCCAGAGAAATCTAAACTGCTGTGGGTTCCGAAGTGTTAACCCAAATGACACCTGTCTGGCTA
GCTGTGTTAAAAGTGACCACTCGTGCTCGCCATGTGCTCCAATCATAGGAGAATATGCTGGAGAGGTTTTGAGATTTGTTGGTGGCATTG
GCCTGTTCTTCAGTTTTACAGAGATCCTGGGTGTTTGGCTGACCTACAGATACAGGAACCAGAAAGACCCCCGCGCGAATCCTAGTGCAT
TCCTTTGATGAGAAAACAAGGAAGATTTCCTTTCGTATTATGATCTTGTTCACTTTCTGTAATTTTCTGTTAAGCTCCATTTGCCAGTTT
AAGGAAGGAAACACTATCTGGAAAAGTACCTTATTGATAGTGGAATTATATATTTTTACTCTATGTTTCTCTACATGTTTTTTTCTTTCC
GTTGCTGAAAAATATTTGAAACTTGTGGTCTCTGAAGCTCGGTGGCACCTGGAATTTACTGTATTCATTGTCGGGCACTGTCCACTGTGG
CCTTTCTTAGCATTTTTACCTGCAGAAAAACTTTGTATGGTACCACTGTGTTGGTTATATGGTGAATCTGAACGTACATCTCACTGGTAT
AATTATATGTAGCACTGTGCTGTGTAGATAGTTCCTACTGGAAAAAGAGTGGAAATTTATTAAAATCAGAAAGTATGAGATCCTGTTATG
TTAAGGGAAATCCAAATTCCCAATTTTTTTTGGTCTTTTTAGGAAAGATTGTTGTGGTAAAAAGTGTTAGTATAAAAATGATAATTTACT
TGTAGTCTTTTATGATTACACCAATGTATTCTAGAAATAGTTATGTCTTAGGAAATTGTGGTTTAATTTTTGACTTTTACAGGTAAGTGC
AAAGGAGAAGTGGTTTCATGAAATGTTCTAATGTATAATAACATTTACCTTCAGCCTCCATCAGAATGGAACGAGTTTTGAGTAATCAGG
AAGTATATCTATATGATCTTGATATTGTTTTATAATAATTTGAAGTCTAAAAGACTGCATTTTTAAACAAGTTAGTATTAATGCGTTGGC
CCACGTAGCAAAAAGATATTTGATTATCTTAAAAATTGTTAAATACCGTTTTCATGAAATTTCTCAGTATTGTAACAGCAACTTGTCAAA
CCTAAGCATATTTGAATATGATCTCCCATAATTTGAAATTGAAATCGTATTGTGTGGCTCTGTATATTCTGTTAAAAAATTAAAGGACAG

>27666_27666_2_ETNK1-TSPAN13_ETNK1_chr12_22778520_ENST00000335148_TSPAN13_chr7_16815836_ENST00000262067_length(amino acids)=324AA_BP=137
MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGTEGSTSLSAPAVLVVAVAVVVVVVSAVAWAM
ANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTLQLVSLLLIGIAAWGIGFGLISSLRVVGVVIAVGIFLFLIA
LVGLIGAVKHHQVLLFFYMIILLLVFIVQFSVSCACLALNQEQQGQLLEVGWNNTASARNDIQRNLNCCGFRSVNPNDTCLASCVKSDHS

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

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Fusion Gene PPI Analysis for ETNK1-TSPAN13

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 ETNK1-TSPAN13

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 ETNK1-TSPAN13

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source