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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:R3HDM4-JAK3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: R3HDM4-JAK3
	FusionPDB ID: 71104
	FusionGDB2.0 ID: 71104
		Hgene	Tgene
	Gene symbol	R3HDM4	JAK3
	Gene ID	91300	3718
	Gene name	R3H domain containing 4	Janus kinase 3
	Synonyms	C19orf22	JAK-3\|JAK3_HUMAN\|JAKL\|L-JAK\|LJAK
	Cytomap	19p13.3	19p13.11
	Type of gene	protein-coding	protein-coding
	Description	R3H domain-containing protein 4R3H domain-containing protein C19orf22	tyrosine-protein kinase JAK3Janus kinase 3 (a protein tyrosine kinase, leukocyte)leukocyte Janus kinase
	Modification date	20200313	20200315
	UniProtAcc	Q96D70	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000361574, ENST00000587975,	ENST00000526008, ENST00000527670, ENST00000458235, ENST00000534444,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	4 X 3 X 5=60	1 X 2 X 1=2
	# samples	7	2
	** MAII score	log2(7/60*10)=0.222392421336448 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(2/2*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)	PubMed: R3HDM4 [Title/Abstract] AND JAK3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	R3HDM4(913087)-JAK3(17953981), # samples:2
Anticipated loss of major functional domain due to fusion event.	R3HDM4-JAK3 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. R3HDM4-JAK3 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. R3HDM4-JAK3 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. R3HDM4-JAK3 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. R3HDM4-JAK3 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. R3HDM4-JAK3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. R3HDM4-JAK3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. R3HDM4-JAK3 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted 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
Tgene	JAK3	GO:0035771	interleukin-4-mediated signaling pathway	7538655
Tgene	JAK3	GO:0070670	response to interleukin-4	7538655\|7594533

Fusion gene breakpoints across R3HDM4 (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 JAK3 (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	ESCA	TCGA-L5-A891-01A	R3HDM4	chr19	913087	-	JAK3	chr19	17953981	-
ChimerDB4	ESCA	TCGA-L5-A891	R3HDM4	chr19	913086	-	JAK3	chr19	17953981	-
ChimerDB4	ESCA	TCGA-L5-A891	R3HDM4	chr19	913087	-	JAK3	chr19	17953981	-
ChimerDB4	ESCA	TCGA-L5-A891	R3HDM4	chr19	913087	-	JAK3	chr19	17954266	-

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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)
ENST00000361574	R3HDM4	chr19	913087	-	ENST00000458235	JAK3	chr19	17953981	-	5057	145	157	3099	980
ENST00000361574	R3HDM4	chr19	913087	-	ENST00000534444	JAK3	chr19	17953981	-	3252	145	157	3009	950
ENST00000587975	R3HDM4	chr19	913087	-	ENST00000458235	JAK3	chr19	17953981	-	5066	154	166	3108	980
ENST00000587975	R3HDM4	chr19	913087	-	ENST00000534444	JAK3	chr19	17953981	-	3261	154	166	3018	950
ENST00000361574	R3HDM4	chr19	913086	-	ENST00000458235	JAK3	chr19	17953981	-	5057	145	157	3099	980
ENST00000361574	R3HDM4	chr19	913086	-	ENST00000534444	JAK3	chr19	17953981	-	3252	145	157	3009	950
ENST00000587975	R3HDM4	chr19	913086	-	ENST00000458235	JAK3	chr19	17953981	-	5066	154	166	3108	980
ENST00000587975	R3HDM4	chr19	913086	-	ENST00000534444	JAK3	chr19	17953981	-	3261	154	166	3018	950

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
ENST00000361574	ENST00000458235	R3HDM4	chr19	913087	-	JAK3	chr19	17953981	-	0.004268556	0.9957314
ENST00000361574	ENST00000534444	R3HDM4	chr19	913087	-	JAK3	chr19	17953981	-	0.010772365	0.98922765
ENST00000587975	ENST00000458235	R3HDM4	chr19	913087	-	JAK3	chr19	17953981	-	0.004270068	0.99572986
ENST00000587975	ENST00000534444	R3HDM4	chr19	913087	-	JAK3	chr19	17953981	-	0.010764929	0.9892351
ENST00000361574	ENST00000458235	R3HDM4	chr19	913086	-	JAK3	chr19	17953981	-	0.004268556	0.9957314
ENST00000361574	ENST00000534444	R3HDM4	chr19	913086	-	JAK3	chr19	17953981	-	0.010772365	0.98922765
ENST00000587975	ENST00000458235	R3HDM4	chr19	913086	-	JAK3	chr19	17953981	-	0.004270068	0.99572986
ENST00000587975	ENST00000534444	R3HDM4	chr19	913086	-	JAK3	chr19	17953981	-	0.010764929	0.9892351

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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

>71104_71104_1_R3HDM4-JAK3_R3HDM4_chr19_913086_ENST00000361574_JAK3_chr19_17953981_ENST00000458235_length(amino acids)=980AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_2_R3HDM4-JAK3_R3HDM4_chr19_913086_ENST00000361574_JAK3_chr19_17953981_ENST00000534444_length(amino acids)=950AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_3_R3HDM4-JAK3_R3HDM4_chr19_913086_ENST00000587975_JAK3_chr19_17953981_ENST00000458235_length(amino acids)=980AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_4_R3HDM4-JAK3_R3HDM4_chr19_913086_ENST00000587975_JAK3_chr19_17953981_ENST00000534444_length(amino acids)=950AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_5_R3HDM4-JAK3_R3HDM4_chr19_913087_ENST00000361574_JAK3_chr19_17953981_ENST00000458235_length(amino acids)=980AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_6_R3HDM4-JAK3_R3HDM4_chr19_913087_ENST00000361574_JAK3_chr19_17953981_ENST00000534444_length(amino acids)=950AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_7_R3HDM4-JAK3_R3HDM4_chr19_913087_ENST00000587975_JAK3_chr19_17953981_ENST00000458235_length(amino acids)=980AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

>71104_71104_8_R3HDM4-JAK3_R3HDM4_chr19_913087_ENST00000587975_JAK3_chr19_17953981_ENST00000534444_length(amino acids)=950AA_BP=
MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL
MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD
NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT
VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS
QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG
DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML
TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI
RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ
QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN
ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV

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

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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/chr19:913087/chr19:17953981)
- 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
R3HDM4 Q96D70	.
	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

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000458235

375_475

140.0

1125.0

Domain

Note=SH2%3B atypical

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000458235

521_781

140.0

1125.0

Domain

Protein kinase 1

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000458235

822_1111

140.0

1125.0

Domain

Protein kinase 2

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000527670

375_475

140.0

1125.0

Domain

Note=SH2%3B atypical

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000527670

521_781

140.0

1125.0

Domain

Protein kinase 1

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000527670

822_1111

140.0

1125.0

Domain

Protein kinase 2

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000534444

375_475

140.0

1095.0

Domain

Note=SH2%3B atypical

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000534444

521_781

140.0

1095.0

Domain

Protein kinase 1

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000534444

822_1111

140.0

1095.0

Domain

Protein kinase 2

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000458235

375_475

140.0

1125.0

Domain

Note=SH2%3B atypical

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000458235

521_781

140.0

1125.0

Domain

Protein kinase 1

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000458235

822_1111

140.0

1125.0

Domain

Protein kinase 2

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000527670

375_475

140.0

1125.0

Domain

Note=SH2%3B atypical

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000527670

521_781

140.0

1125.0

Domain

Protein kinase 1

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000527670

822_1111

140.0

1125.0

Domain

Protein kinase 2

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000534444

375_475

140.0

1095.0

Domain

Note=SH2%3B atypical

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000534444

521_781

140.0

1095.0

Domain

Protein kinase 1

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000534444

822_1111

140.0

1095.0

Domain

Protein kinase 2

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000458235

828_836

140.0

1125.0

Nucleotide binding

ATP

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000527670

828_836

140.0

1125.0

Nucleotide binding

ATP

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000534444

828_836

140.0

1095.0

Nucleotide binding

ATP

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000458235

828_836

140.0

1125.0

Nucleotide binding

ATP

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000527670

828_836

140.0

1125.0

Nucleotide binding

ATP

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000534444

828_836

140.0

1095.0

Nucleotide binding

ATP

- 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

R3HDM4

chr19:913086

chr19:17953981

ENST00000361574

132_184

23.666666666666668

269.0

Compositional bias

Note=Arg-rich

Hgene

R3HDM4

chr19:913087

chr19:17953981

ENST00000361574

132_184

23.666666666666668

269.0

Compositional bias

Note=Arg-rich

Hgene

R3HDM4

chr19:913086

chr19:17953981

ENST00000361574

187_250

23.666666666666668

269.0

Domain

R3H

Hgene

R3HDM4

chr19:913087

chr19:17953981

ENST00000361574

187_250

23.666666666666668

269.0

Domain

R3H

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000458235

24_356

140.0

1125.0

Domain

FERM

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000527670

24_356

140.0

1125.0

Domain

FERM

Tgene

JAK3

chr19:913086

chr19:17953981

ENST00000534444

24_356

140.0

1095.0

Domain

FERM

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000458235

24_356

140.0

1125.0

Domain

FERM

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000527670

24_356

140.0

1125.0

Domain

FERM

Tgene

JAK3

chr19:913087

chr19:17953981

ENST00000534444

24_356

140.0

1095.0

Domain

FERM

Top

Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1783_R3HDM4_913087_JAK3_17953981_ranked_0.pdb	R3HDM4	913086	913087	ENST00000534444	JAK3	chr19	17953981	-	MVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSL MAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTD NQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLT VCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQS QYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAG DSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEML TDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVI RDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQ QRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARN ILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDV	980

Top

pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

R3HDM4_pLDDT.png

JAK3_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

Top

Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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
R3HDM4
JAK3

- 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
Tgene	JAK3	chr19:913086	chr19:17953981	ENST00000458235		3	24	1_223	140.0	1125.0	cytokine/interferon/growth hormone receptors
Tgene	JAK3	chr19:913086	chr19:17953981	ENST00000527670		2	23	1_223	140.0	1125.0	cytokine/interferon/growth hormone receptors
Tgene	JAK3	chr19:913086	chr19:17953981	ENST00000534444		3	23	1_223	140.0	1095.0	cytokine/interferon/growth hormone receptors
Tgene	JAK3	chr19:913087	chr19:17953981	ENST00000458235		3	24	1_223	140.0	1125.0	cytokine/interferon/growth hormone receptors
Tgene	JAK3	chr19:913087	chr19:17953981	ENST00000527670		2	23	1_223	140.0	1125.0	cytokine/interferon/growth hormone receptors
Tgene	JAK3	chr19:913087	chr19:17953981	ENST00000534444		3	23	1_223	140.0	1095.0	cytokine/interferon/growth hormone receptors

Top

Related Drugs to R3HDM4-JAK3

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to R3HDM4-JAK3

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