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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:PTPN6-LEPREL2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: PTPN6-LEPREL2
	FusionPDB ID: 70290
	FusionGDB2.0 ID: 70292
		Hgene	Tgene
	Gene symbol	PTPN6	LEPREL2
	Gene ID	5777	10536
	Gene name	protein tyrosine phosphatase non-receptor type 6	prolyl 3-hydroxylase 3
	Synonyms	HCP\|HCPH\|HPTP1C\|PTP-1C\|SH-PTP1\|SHP-1\|SHP-1L\|SHP1	GRCB\|HSU47926\|LEPREL2
	Cytomap	12p13.31	12p13.31
	Type of gene	protein-coding	protein-coding
	Description	tyrosine-protein phosphatase non-receptor type 6hematopoietic cell phosphatasehematopoietic cell protein-tyrosine phosphataseprotein-tyrosine phosphatase 1Cprotein-tyrosine phosphatase SHP-1	prolyl 3-hydroxylase 3gene rich cluster, Bleprecan-like 2procollagen-proline 3-dioxygenaseprotein B
	Modification date	20200320	20200313
	UniProtAcc	.	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000318974, ENST00000399448, ENST00000447931, ENST00000456013, ENST00000539029,	ENST00000538102, ENST00000251761, ENST00000396725, ENST00000606935,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 5 X 4=100	2 X 2 X 2=8
	# samples	6	2
	** MAII score	log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/8*10)=1.32192809488736
Context (manual curation of fusion genes in FusionPDB)	PubMed: PTPN6 [Title/Abstract] AND LEPREL2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	PTPN6(7066948)-LEPREL2(6948164), # samples:2
Anticipated loss of major functional domain due to fusion event.	PTPN6-LEPREL2 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. PTPN6-LEPREL2 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. PTPN6-LEPREL2 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. PTPN6-LEPREL2 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)

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	PTPN6	GO:0006470	protein dephosphorylation	11266449
Hgene	PTPN6	GO:0018108	peptidyl-tyrosine phosphorylation	9285411\|18802077
Hgene	PTPN6	GO:0030154	cell differentiation	11266449
Hgene	PTPN6	GO:0070372	regulation of ERK1 and ERK2 cascade	11266449
Tgene	LEPREL2	GO:0008285	negative regulation of cell proliferation	19436308

Fusion gene breakpoints across PTPN6 (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 LEPREL2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	BLCA	TCGA-FD-A3NA-01A	PTPN6	chr12	7066948	-	LEPREL2	chr12	6948164	+
ChimerDB4	BLCA	TCGA-FD-A3NA-01A	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000399448	PTPN6	chr12	7066948	+	ENST00000396725	LEPREL2	chr12	6948164	+	2060	1361	41	1666	541
ENST00000399448	PTPN6	chr12	7066948	+	ENST00000251761	LEPREL2	chr12	6948164	+	2060	1361	41	1666	541
ENST00000399448	PTPN6	chr12	7066948	+	ENST00000606935	LEPREL2	chr12	6948164	+	1667	1361	41	1666	542
ENST00000447931	PTPN6	chr12	7066948	+	ENST00000396725	LEPREL2	chr12	6948164	+	1904	1205	8	1510	500
ENST00000447931	PTPN6	chr12	7066948	+	ENST00000251761	LEPREL2	chr12	6948164	+	1904	1205	8	1510	500
ENST00000447931	PTPN6	chr12	7066948	+	ENST00000606935	LEPREL2	chr12	6948164	+	1511	1205	8	1510	501
ENST00000318974	PTPN6	chr12	7066948	+	ENST00000396725	LEPREL2	chr12	6948164	+	2149	1450	169	1755	528
ENST00000318974	PTPN6	chr12	7066948	+	ENST00000251761	LEPREL2	chr12	6948164	+	2149	1450	169	1755	528
ENST00000318974	PTPN6	chr12	7066948	+	ENST00000606935	LEPREL2	chr12	6948164	+	1756	1450	169	1755	529
ENST00000456013	PTPN6	chr12	7066948	+	ENST00000396725	LEPREL2	chr12	6948164	+	2147	1448	167	1753	528
ENST00000456013	PTPN6	chr12	7066948	+	ENST00000251761	LEPREL2	chr12	6948164	+	2147	1448	167	1753	528
ENST00000456013	PTPN6	chr12	7066948	+	ENST00000606935	LEPREL2	chr12	6948164	+	1754	1448	167	1753	529

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
ENST00000399448	ENST00000396725	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.008498753	0.9915012
ENST00000399448	ENST00000251761	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.008498753	0.9915012
ENST00000399448	ENST00000606935	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.008567171	0.9914328
ENST00000447931	ENST00000396725	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.010230069	0.98976994
ENST00000447931	ENST00000251761	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.010230069	0.98976994
ENST00000447931	ENST00000606935	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.010221691	0.98977834
ENST00000318974	ENST00000396725	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.009601872	0.99039817
ENST00000318974	ENST00000251761	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.009601872	0.99039817
ENST00000318974	ENST00000606935	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.010098697	0.9899013
ENST00000456013	ENST00000396725	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.009704475	0.9902955
ENST00000456013	ENST00000251761	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.009704475	0.9902955
ENST00000456013	ENST00000606935	PTPN6	chr12	7066948	+	LEPREL2	chr12	6948164	+	0.010245453	0.9897545

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>70290_70290_1_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000318974_LEPREL2_chr12_6948164_ENST00000251761_length(amino acids)=528AA_BP=427
MSSLPAQTSCTSSFPAPPSSPEAPRMVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYG
GEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPK
AGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFW
EEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDF
WQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGV

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

>70290_70290_2_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000318974_LEPREL2_chr12_6948164_ENST00000396725_length(amino acids)=528AA_BP=427
MSSLPAQTSCTSSFPAPPSSPEAPRMVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYG
GEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPK
AGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFW
EEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDF
WQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGV

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

>70290_70290_3_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000318974_LEPREL2_chr12_6948164_ENST00000606935_length(amino acids)=529AA_BP=427
MSSLPAQTSCTSSFPAPPSSPEAPRMVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYG
GEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPK
AGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFW
EEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDF
WQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGV

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

>70290_70290_4_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000399448_LEPREL2_chr12_6948164_ENST00000251761_length(amino acids)=541AA_BP=440
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHI
RIQNSGDFYDLYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQP
GDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNK
KQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYI
ASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRL
VAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQEWIEAKELLQESQEEEEEEEEEMPSKDPSPEPPSRRHQRVQDKTGRAPRVREE

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

>70290_70290_5_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000399448_LEPREL2_chr12_6948164_ENST00000396725_length(amino acids)=541AA_BP=440
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHI
RIQNSGDFYDLYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQP
GDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNK
KQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYI
ASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRL
VAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQEWIEAKELLQESQEEEEEEEEEMPSKDPSPEPPSRRHQRVQDKTGRAPRVREE

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

>70290_70290_6_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000399448_LEPREL2_chr12_6948164_ENST00000606935_length(amino acids)=542AA_BP=440
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHI
RIQNSGDFYDLYGGEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQP
GDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNK
KQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYI
ASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRL
VAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQEWIEAKELLQESQEEEEEEEEEMPSKDPSPEPPSRRHQRVQDKTGRAPRVREE

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

>70290_70290_7_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000447931_LEPREL2_chr12_6948164_ENST00000251761_length(amino acids)=500AA_BP=399
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGVGDQVTHIRIQNSGDFYDLYGGEKFATLTELVEYYTQQQGVLQDRDGTI
IHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLET
FDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGK
NRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVP
YWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQEWIE

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

>70290_70290_8_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000447931_LEPREL2_chr12_6948164_ENST00000396725_length(amino acids)=500AA_BP=399
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGVGDQVTHIRIQNSGDFYDLYGGEKFATLTELVEYYTQQQGVLQDRDGTI
IHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLET
FDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGK
NRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVP
YWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQEWIE

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

>70290_70290_9_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000447931_LEPREL2_chr12_6948164_ENST00000606935_length(amino acids)=501AA_BP=399
MSGSSSPGLGHCAQLCRWLSPAPCGPLPWLPPPYREMLSRGVGDQVTHIRIQNSGDFYDLYGGEKFATLTELVEYYTQQQGVLQDRDGTI
IHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPKAGPGSPLRVTHIKVMCEGGRYTVGGLET
FDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFWEEFESLQKQEVKNLHQRLEGQRPENKGK
NRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDFWQMAWQENSRVIVMTTREVEKGRNKCVP
YWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQEWIE

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

>70290_70290_10_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000456013_LEPREL2_chr12_6948164_ENST00000251761_length(amino acids)=528AA_BP=427
MSSLPAQTSCTSSFPAPPSSPEAPRMVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYG
GEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPK
AGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFW
EEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDF
WQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGV

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

>70290_70290_11_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000456013_LEPREL2_chr12_6948164_ENST00000396725_length(amino acids)=528AA_BP=427
MSSLPAQTSCTSSFPAPPSSPEAPRMVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYG
GEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPK
AGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFW
EEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDF
WQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGV

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

>70290_70290_12_PTPN6-LEPREL2_PTPN6_chr12_7066948_ENST00000456013_LEPREL2_chr12_6948164_ENST00000606935_length(amino acids)=529AA_BP=427
MSSLPAQTSCTSSFPAPPSSPEAPRMVRWFHRDLSGLDAETLLKGRGVHGSFLARPSRKNQGDFSLSVRVGDQVTHIRIQNSGDFYDLYG
GEKFATLTELVEYYTQQQGVLQDRDGTIIHLKYPLNCSDPTSERWYHGHMSGGQAETLLQAKGEPWTFLVRESLSQPGDFVLSVLSDQPK
AGPGSPLRVTHIKVMCEGGRYTVGGLETFDSLTDLVEHFKKTGIEEASGAFVYLRQPYYATRVNAADIENRVLELNKKQESEDTAKAGFW
EEFESLQKQEVKNLHQRLEGQRPENKGKNRYKNILPFDHSRVILQGRDSNIPGSDYINANYIKNQLLGPDENAKTYIASQGCLEATVNDF
WQMAWQENSRVIVMTTREVEKGRNKCVPYWPEVGMQRAYGPYSVTNCGEHDTTEYKLRTLQVSPLDNARVRPRCGRLVAFSSGVENPHGV

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:7066948/chr12:6948164)
- 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: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

PTPN6

chr12:7066948

chr12:6948164

ENST00000318974

110_213

402.0

574.6666666666666

Domain

SH2 2

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000318974

4_100

402.0

574.6666666666666

Domain

SH2 1

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000399448

110_213

404.0

607.3333333333334

Domain

SH2 2

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000399448

4_100

404.0

607.3333333333334

Domain

SH2 1

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000447931

110_213

363.0

566.6666666666666

Domain

SH2 2

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000447931

4_100

363.0

566.6666666666666

Domain

SH2 1

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000456013

110_213

402.0

605.3333333333334

Domain

SH2 2

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000456013

4_100

402.0

605.3333333333334

Domain

SH2 1

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

681_709

450.0

552.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

696_704

450.0

552.0

Compositional bias

Note=Poly-Glu

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

561_675

450.0

552.0

Domain

Fe2OG dioxygenase

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

733_736

450.0

552.0

Motif

Prevents secretion from ER

- 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

PTPN6

chr12:7066948

chr12:6948164

ENST00000318974

244_515

402.0

574.6666666666666

Domain

Tyrosine-protein phosphatase

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000399448

244_515

404.0

607.3333333333334

Domain

Tyrosine-protein phosphatase

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000447931

244_515

363.0

566.6666666666666

Domain

Tyrosine-protein phosphatase

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000456013

244_515

402.0

605.3333333333334

Domain

Tyrosine-protein phosphatase

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000318974

453_459

402.0

574.6666666666666

Region

Substrate binding

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000399448

453_459

404.0

607.3333333333334

Region

Substrate binding

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000447931

453_459

363.0

566.6666666666666

Region

Substrate binding

Hgene

PTPN6

chr12:7066948

chr12:6948164

ENST00000456013

453_459

402.0

605.3333333333334

Region

Substrate binding

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

173_177

450.0

552.0

Compositional bias

Note=Poly-Ala

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

267_270

450.0

552.0

Compositional bias

Note=Poly-Glu

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

154_187

450.0

552.0

Repeat

Note=TPR 2

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

216_249

450.0

552.0

Repeat

Note=TPR 3

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

316_349

450.0

552.0

Repeat

Note=TPR 4

Tgene

LEPREL2

chr12:7066948

chr12:6948164

ENST00000251761

37_70

450.0

552.0

Repeat

Note=TPR 1

Top

Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
PTPN6
LEPREL2

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

Top

Related Drugs to PTPN6-LEPREL2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to PTPN6-LEPREL2

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source