UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level2

	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:NF1-SPACA3

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: NF1-SPACA3
	FusionPDB ID: 58706
	FusionGDB2.0 ID: 58706
		Hgene	Tgene
	Gene symbol	NF1	SPACA3
	Gene ID	4763	124912
	Gene name	neurofibromin 1	sperm acrosome associated 3
	Synonyms	NFNS\|VRNF\|WSS	ALLP17\|CT54\|LYC3\|LYZC\|LYZL3\|SLLP1
	Cytomap	17q11.2	17q11.2
	Type of gene	protein-coding	protein-coding
	Description	neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1	sperm acrosome membrane-associated protein 3cancer/testis antigen 54lysozyme Clysozyme-like acrosomal sperm-specific secretory protein ALLP-17lysozyme-like protein 3lysozyme-like sperm-specific secretory protein ALLP17sperm lysozyme-like protein 1s
	Modification date	20200322	20200320
	UniProtAcc	P21359	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000356175, ENST00000358273, ENST00000431387, ENST00000417592, ENST00000444181, ENST00000581113,	ENST00000394637, ENST00000269053, ENST00000394638, ENST00000580599,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	47 X 26 X 21=25662	6 X 5 X 5=150
	# samples	69	8
	** MAII score	log2(69/25662*10)=-5.21689344093196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(8/150*10)=-0.906890595608519 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: NF1 [Title/Abstract] AND SPACA3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	NF1(29497015)-SPACA3(31323861), # samples:3
Anticipated loss of major functional domain due to fusion event.	NF1-SPACA3 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. NF1-SPACA3 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. NF1-SPACA3 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. NF1-SPACA3 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	NF1	GO:0043547	positive regulation of GTPase activity	2121371

Fusion gene breakpoints across NF1 (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 SPACA3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

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-DK-AA6X-01A	NF1	chr17	29497015	-	SPACA3	chr17	31323861	+
ChimerDB4	BLCA	TCGA-DK-AA6X-01A	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+
ChimerDB4	BLCA	TCGA-DK-AA6X	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+
ChimerDB4	BLCA	TCGA-DK-AA6X	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+

Top

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)
ENST00000356175	NF1	chr17	29497015	+	ENST00000580599	SPACA3	chr17	31323861	+	1373	969	254	1273	339
ENST00000356175	NF1	chr17	29497015	+	ENST00000394638	SPACA3	chr17	31323861	+	1373	969	254	1273	339
ENST00000356175	NF1	chr17	29497015	+	ENST00000269053	SPACA3	chr17	31323861	+	1373	969	254	1273	339
ENST00000358273	NF1	chr17	29497015	+	ENST00000580599	SPACA3	chr17	31323861	+	1373	969	254	1273	339
ENST00000358273	NF1	chr17	29497015	+	ENST00000394638	SPACA3	chr17	31323861	+	1373	969	254	1273	339
ENST00000358273	NF1	chr17	29497015	+	ENST00000269053	SPACA3	chr17	31323861	+	1373	969	254	1273	339
ENST00000431387	NF1	chr17	29497015	+	ENST00000580599	SPACA3	chr17	31323861	+	1323	919	204	1223	339
ENST00000431387	NF1	chr17	29497015	+	ENST00000394638	SPACA3	chr17	31323861	+	1323	919	204	1223	339
ENST00000431387	NF1	chr17	29497015	+	ENST00000269053	SPACA3	chr17	31323861	+	1323	919	204	1223	339
ENST00000356175	NF1	chr17	29497015	+	ENST00000580599	SPACA3	chr17	31323860	+	1373	969	254	1273	339
ENST00000356175	NF1	chr17	29497015	+	ENST00000394638	SPACA3	chr17	31323860	+	1373	969	254	1273	339
ENST00000356175	NF1	chr17	29497015	+	ENST00000269053	SPACA3	chr17	31323860	+	1373	969	254	1273	339
ENST00000358273	NF1	chr17	29497015	+	ENST00000580599	SPACA3	chr17	31323860	+	1373	969	254	1273	339
ENST00000358273	NF1	chr17	29497015	+	ENST00000394638	SPACA3	chr17	31323860	+	1373	969	254	1273	339
ENST00000358273	NF1	chr17	29497015	+	ENST00000269053	SPACA3	chr17	31323860	+	1373	969	254	1273	339
ENST00000431387	NF1	chr17	29497015	+	ENST00000580599	SPACA3	chr17	31323860	+	1323	919	204	1223	339
ENST00000431387	NF1	chr17	29497015	+	ENST00000394638	SPACA3	chr17	31323860	+	1323	919	204	1223	339
ENST00000431387	NF1	chr17	29497015	+	ENST00000269053	SPACA3	chr17	31323860	+	1323	919	204	1223	339

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
ENST00000356175	ENST00000580599	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003922842	0.9960771
ENST00000356175	ENST00000394638	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003922842	0.9960771
ENST00000356175	ENST00000269053	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003922842	0.9960771
ENST00000358273	ENST00000580599	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003922842	0.9960771
ENST00000358273	ENST00000394638	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003922842	0.9960771
ENST00000358273	ENST00000269053	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003922842	0.9960771
ENST00000431387	ENST00000580599	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003333467	0.9966665
ENST00000431387	ENST00000394638	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003333467	0.9966665
ENST00000431387	ENST00000269053	NF1	chr17	29497015	+	SPACA3	chr17	31323861	+	0.003333467	0.9966665
ENST00000356175	ENST00000580599	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003922842	0.9960771
ENST00000356175	ENST00000394638	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003922842	0.9960771
ENST00000356175	ENST00000269053	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003922842	0.9960771
ENST00000358273	ENST00000580599	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003922842	0.9960771
ENST00000358273	ENST00000394638	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003922842	0.9960771
ENST00000358273	ENST00000269053	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003922842	0.9960771
ENST00000431387	ENST00000580599	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003333467	0.9966665
ENST00000431387	ENST00000394638	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003333467	0.9966665
ENST00000431387	ENST00000269053	NF1	chr17	29497015	+	SPACA3	chr17	31323860	+	0.003333467	0.9966665

Top

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

>58706_58706_1_NF1-SPACA3_NF1_chr17_29497015_ENST00000356175_SPACA3_chr17_31323860_ENST00000269053_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_2_NF1-SPACA3_NF1_chr17_29497015_ENST00000356175_SPACA3_chr17_31323860_ENST00000394638_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_3_NF1-SPACA3_NF1_chr17_29497015_ENST00000356175_SPACA3_chr17_31323860_ENST00000580599_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_4_NF1-SPACA3_NF1_chr17_29497015_ENST00000356175_SPACA3_chr17_31323861_ENST00000269053_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_5_NF1-SPACA3_NF1_chr17_29497015_ENST00000356175_SPACA3_chr17_31323861_ENST00000394638_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_6_NF1-SPACA3_NF1_chr17_29497015_ENST00000356175_SPACA3_chr17_31323861_ENST00000580599_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_7_NF1-SPACA3_NF1_chr17_29497015_ENST00000358273_SPACA3_chr17_31323860_ENST00000269053_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_8_NF1-SPACA3_NF1_chr17_29497015_ENST00000358273_SPACA3_chr17_31323860_ENST00000394638_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_9_NF1-SPACA3_NF1_chr17_29497015_ENST00000358273_SPACA3_chr17_31323860_ENST00000580599_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_10_NF1-SPACA3_NF1_chr17_29497015_ENST00000358273_SPACA3_chr17_31323861_ENST00000269053_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_11_NF1-SPACA3_NF1_chr17_29497015_ENST00000358273_SPACA3_chr17_31323861_ENST00000394638_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_12_NF1-SPACA3_NF1_chr17_29497015_ENST00000358273_SPACA3_chr17_31323861_ENST00000580599_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_13_NF1-SPACA3_NF1_chr17_29497015_ENST00000431387_SPACA3_chr17_31323860_ENST00000269053_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_14_NF1-SPACA3_NF1_chr17_29497015_ENST00000431387_SPACA3_chr17_31323860_ENST00000394638_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_15_NF1-SPACA3_NF1_chr17_29497015_ENST00000431387_SPACA3_chr17_31323860_ENST00000580599_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_16_NF1-SPACA3_NF1_chr17_29497015_ENST00000431387_SPACA3_chr17_31323861_ENST00000269053_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_17_NF1-SPACA3_NF1_chr17_29497015_ENST00000431387_SPACA3_chr17_31323861_ENST00000394638_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

>58706_58706_18_NF1-SPACA3_NF1_chr17_29497015_ENST00000431387_SPACA3_chr17_31323861_ENST00000580599_length(amino acids)=339AA_BP=238
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS
KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS
ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN

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

Top

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/chr17:29497015/chr17:31323861)
- 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
NF1 P21359	.
FUNCTION: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269\|PubMed:2121371, ECO:0000269\|PubMed:8417346}.	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

SPACA3

chr17:29497015

chr17:31323860

ENST00000580599

88_215

45.333333333333336

147.0

Domain

C-type lysozyme

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000580599

88_215

45.333333333333336

147.0

Domain

C-type lysozyme

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000580599

85_215

45.333333333333336

147.0

Topological domain

Extracellular

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000580599

85_215

45.333333333333336

147.0

Topological domain

Extracellular

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000580599

64_84

45.333333333333336

147.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000580599

64_84

45.333333333333336

147.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

- 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

NF1

chr17:29497015

chr17:31323860

ENST00000356175

1352_1355

195.33333333333334

2819.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000358273

1352_1355

195.33333333333334

2840.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000431387

1352_1355

195.33333333333334

594.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000356175

1352_1355

195.33333333333334

2819.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000358273

1352_1355

195.33333333333334

2840.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000431387

1352_1355

195.33333333333334

594.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000356175

1235_1451

195.33333333333334

2819.0

Domain

Ras-GAP

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000356175

1580_1738

195.33333333333334

2819.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000358273

1235_1451

195.33333333333334

2840.0

Domain

Ras-GAP

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000358273

1580_1738

195.33333333333334

2840.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000431387

1235_1451

195.33333333333334

594.0

Domain

Ras-GAP

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000431387

1580_1738

195.33333333333334

594.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000356175

1235_1451

195.33333333333334

2819.0

Domain

Ras-GAP

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000356175

1580_1738

195.33333333333334

2819.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000358273

1235_1451

195.33333333333334

2840.0

Domain

Ras-GAP

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000358273

1580_1738

195.33333333333334

2840.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000431387

1235_1451

195.33333333333334

594.0

Domain

Ras-GAP

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000431387

1580_1738

195.33333333333334

594.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000356175

2555_2571

195.33333333333334

2819.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000358273

2555_2571

195.33333333333334

2840.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000431387

2555_2571

195.33333333333334

594.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000356175

2555_2571

195.33333333333334

2819.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000358273

2555_2571

195.33333333333334

2840.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000431387

2555_2571

195.33333333333334

594.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000356175

1580_1837

195.33333333333334

2819.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000358273

1580_1837

195.33333333333334

2840.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29497015

chr17:31323860

ENST00000431387

1580_1837

195.33333333333334

594.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000356175

1580_1837

195.33333333333334

2819.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000358273

1580_1837

195.33333333333334

2840.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29497015

chr17:31323861

ENST00000431387

1580_1837

195.33333333333334

594.0

Region

Note=Lipid binding

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000269053

88_215

114.33333333333333

216.0

Domain

C-type lysozyme

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000269053

88_215

114.33333333333333

216.0

Domain

C-type lysozyme

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000269053

1_63

114.33333333333333

216.0

Topological domain

Cytoplasmic

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000269053

85_215

114.33333333333333

216.0

Topological domain

Extracellular

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000580599

1_63

45.333333333333336

147.0

Topological domain

Cytoplasmic

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000269053

1_63

114.33333333333333

216.0

Topological domain

Cytoplasmic

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000269053

85_215

114.33333333333333

216.0

Topological domain

Extracellular

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000580599

1_63

45.333333333333336

147.0

Topological domain

Cytoplasmic

Tgene

SPACA3

chr17:29497015

chr17:31323860

ENST00000269053

64_84

114.33333333333333

216.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

SPACA3

chr17:29497015

chr17:31323861

ENST00000269053

64_84

114.33333333333333

216.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

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 >>>641_NF1_29497015_SPACA3_31323861_ranked_0.pdb	NF1	29497015	29497015	ENST00000269053	SPACA3	chr17	31323861	+	MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINIS KYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNS ASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKGVCLAYFTSGFNAAALDYEADGSTNNGIFQIN	339

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.

NF1_pLDDT.png

SPACA3_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

NF1

HRAS, SMARCA4, POLR2A, TIRAP, SIRT7, VCP, NSFL1C, CAV1, YWHAB, FAF2, NXF1, CCDC8, HLA-DPA1, EFNB2, CD274, TNFSF13B, CA14, SLAMF1, VSIG4, TGOLN2, HTR6, NOSIP, KRAS, CLK1, CDC5L, APP, YWHAH, PML, TRAF6, PTEN, SDC2, EGFR, CD79B, P4HA3, SCN3B, VSIG1, SIGLECL1, EPHA1, FAM174A, KCTD3, KIF13B, ZBTB21, KSR1, CGN, GIGYF1, LRFN1, RTKN, MAST3, DENND1A, SH3PXD2A, SRGAP2, DENND4C, PPM1H, EIF4E2, SIPA1L1, LIMA1, RALGPS2, MAGI1, CBY1, TESK2, CDC25C, DCLK1, GIGYF2, HDAC4, LPIN3, ZNF638, CAMSAP2, NADK, MAPKAP1, SRSF12, RASAL2, SYDE1, KIAA1804, TIAM1, AGAP1, CDC25B, CDK16, SH3RF3, PHLDB2, PLEKHA7, KIF1C, OSBPL6, FAM110B, USP21, NAV1, TANC2, PTPN13, FAM53C, ANKRD34A, STARD13, PTPN14, GAB2, DENND4A, INPP5E, TOP1, TOP2A, TOP3A, NRAS, ZUFSP, ESR2, LZTR1, SPRED1, MYC, LIMK2, KIAA1429, CTDP1, DYRK1A, F12, AKT1, EPHA2, MAP2K3, RAF1, SOX4, BIRC3, ORF7a, LCK, NOLC1, N, nsp7, KIF14, PRC1, MKI67, FASN, NR3C1, DDRGK1, FLOT1, LYN, PFN1, RHOB, ATG7, EFS, C19orf38, CDHR2, ITFG3, CD80, SEMA4C, DGCR2, EFNA4, PTGES2, LRRC25, EVI2A, EFNB1, TPST2, C3orf18, GYPA, HCST, TACSTD2, OPALIN, IL2RA, CD226, SIRT6,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
NF1
SPACA3

- 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 NF1-SPACA3

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to NF1-SPACA3

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
Hgene	NF1	C0027831	Neurofibromatosis 1	44	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	NF1	C1708353	Hereditary Paraganglioma-Pheochromocytoma Syndrome	10	CLINGEN
Hgene	NF1	C0349639	Juvenile Myelomonocytic Leukemia	7	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	NF1	C2931482	Neurofibromatosis-Noonan syndrome	6	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	NF1	C0553586	Cafe-au-lait macules with pulmonary stenosis	5	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	NF1	C0162678	Neurofibromatoses	3	CGI;CTD_human;GENOMICS_ENGLAND
Hgene	NF1	C0004114	Astrocytoma	2	CTD_human
Hgene	NF1	C0023467	Leukemia, Myelocytic, Acute	2	CTD_human
Hgene	NF1	C0025202	melanoma	2	CGI;CTD_human
Hgene	NF1	C0026998	Acute Myeloid Leukemia, M1	2	CTD_human
Hgene	NF1	C0205768	Subependymal Giant Cell Astrocytoma	2	CTD_human
Hgene	NF1	C0206727	Nerve Sheath Tumors	2	CTD_human
Hgene	NF1	C0280783	Juvenile Pilocytic Astrocytoma	2	CTD_human
Hgene	NF1	C0280785	Diffuse Astrocytoma	2	CTD_human
Hgene	NF1	C0334579	Anaplastic astrocytoma	2	CTD_human
Hgene	NF1	C0334580	Protoplasmic astrocytoma	2	CTD_human
Hgene	NF1	C0334581	Gemistocytic astrocytoma	2	CTD_human
Hgene	NF1	C0334582	Fibrillary Astrocytoma	2	CTD_human
Hgene	NF1	C0334583	Pilocytic Astrocytoma	2	CTD_human
Hgene	NF1	C0338070	Childhood Cerebral Astrocytoma	2	CTD_human
Hgene	NF1	C0547065	Mixed oligoastrocytoma	2	CTD_human
Hgene	NF1	C0750935	Cerebral Astrocytoma	2	CTD_human
Hgene	NF1	C0750936	Intracranial Astrocytoma	2	CTD_human
Hgene	NF1	C0751689	Peripheral Nerve Sheath Neoplasm	2	CTD_human
Hgene	NF1	C0751691	Perineurioma	2	CTD_human
Hgene	NF1	C1704230	Grade I Astrocytoma	2	CTD_human
Hgene	NF1	C1834235	NEUROFIBROMATOSIS, FAMILIAL SPINAL	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	NF1	C1879321	Acute Myeloid Leukemia (AML-M2)	2	CTD_human
Hgene	NF1	C0001430	Adenoma	1	CTD_human
Hgene	NF1	C0004352	Autistic Disorder	1	CTD_human
Hgene	NF1	C0016057	Fibrosarcoma	1	CTD_human
Hgene	NF1	C0017636	Glioblastoma	1	CTD_human
Hgene	NF1	C0017638	Glioma	1	CGI;CTD_human
Hgene	NF1	C0020796	Profound Mental Retardation	1	CTD_human
Hgene	NF1	C0023186	Learning Disorders	1	CTD_human
Hgene	NF1	C0023827	liposarcoma	1	CTD_human
Hgene	NF1	C0025363	Mental Retardation, Psychosocial	1	CTD_human
Hgene	NF1	C0026654	Moyamoya Disease	1	GENOMICS_ENGLAND
Hgene	NF1	C0027809	Neurilemmoma	1	CTD_human
Hgene	NF1	C0027830	neurofibroma	1	CTD_human
Hgene	NF1	C0027962	Melanocytic nevus	1	CTD_human
Hgene	NF1	C0028326	Noonan Syndrome	1	GENOMICS_ENGLAND
Hgene	NF1	C0031511	Pheochromocytoma	1	CTD_human
Hgene	NF1	C0035320	Retinal Neovascularization	1	CTD_human
Hgene	NF1	C0205646	Adenoma, Basal Cell	1	CTD_human
Hgene	NF1	C0205647	Follicular adenoma	1	CTD_human
Hgene	NF1	C0205648	Adenoma, Microcystic	1	CTD_human
Hgene	NF1	C0205649	Adenoma, Monomorphic	1	CTD_human
Hgene	NF1	C0205650	Papillary adenoma	1	CTD_human
Hgene	NF1	C0205651	Adenoma, Trabecular	1	CTD_human
Hgene	NF1	C0205824	Liposarcoma, Dedifferentiated	1	CTD_human
Hgene	NF1	C0205825	Liposarcoma, Pleomorphic	1	CTD_human
Hgene	NF1	C0205944	Sarcoma, Epithelioid	1	CTD_human
Hgene	NF1	C0205945	Sarcoma, Spindle Cell	1	CTD_human
Hgene	NF1	C0259783	mixed gliomas	1	CTD_human
Hgene	NF1	C0334588	Giant Cell Glioblastoma	1	CTD_human
Hgene	NF1	C0555198	Malignant Glioma	1	CTD_human
Hgene	NF1	C0751262	Adult Learning Disorders	1	CTD_human
Hgene	NF1	C0751263	Learning Disturbance	1	CTD_human
Hgene	NF1	C0751265	Learning Disabilities	1	CTD_human
Hgene	NF1	C0751374	Schwannomatosis, Plexiform	1	CTD_human
Hgene	NF1	C0917816	Mental deficiency	1	CTD_human
Hgene	NF1	C0917817	Neurofibromatosis 3	1	CTD_human
Hgene	NF1	C1257877	Pheochromocytoma, Extra-Adrenal	1	CTD_human
Hgene	NF1	C1261473	Sarcoma	1	CTD_human
Hgene	NF1	C1330966	Developmental Academic Disorder	1	CTD_human
Hgene	NF1	C1370889	Liposarcoma, well differentiated	1	CTD_human
Hgene	NF1	C1621958	Glioblastoma Multiforme	1	CTD_human
Hgene	NF1	C3150928	NF1 Microdeletion Syndrome	1	ORPHANET
Hgene	NF1	C3714756	Intellectual Disability	1	CTD_human