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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:NF1-ACACA

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: NF1-ACACA
	FusionPDB ID: 58666
	FusionGDB2.0 ID: 58666
		Hgene	Tgene
	Gene symbol	NF1	ACACA
	Gene ID	4763	31
	Gene name	neurofibromin 1	acetyl-CoA carboxylase alpha
	Synonyms	NFNS\|VRNF\|WSS	ACAC\|ACACAD\|ACC\|ACC1\|ACCA
	Cytomap	17q11.2	17q12
	Type of gene	protein-coding	protein-coding
	Description	neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1	acetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alpha
	Modification date	20200322	20200313
	UniProtAcc	P21359	Q13085
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000356175, ENST00000358273, ENST00000431387, ENST00000417592, ENST00000444181, ENST00000581113,	ENST00000361253, ENST00000416895, ENST00000588142, ENST00000589665, ENST00000335166, ENST00000353139, ENST00000360679, ENST00000394406,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	47 X 26 X 21=25662	20 X 22 X 7=3080
	# samples	69	21
	** MAII score	log2(69/25662*10)=-5.21689344093196 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(21/3080*10)=-3.87446911791614 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 ACACA [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	NF1(29422387)-ACACA(35518964), # samples:3
Anticipated loss of major functional domain due to fusion event.	NF1-ACACA 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-ACACA 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-ACACA 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-ACACA 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 ACACA (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	BRCA	TCGA-E9-A1N6-01A	NF1	chr17	29422387	-	ACACA	chr17	35518964	-
ChimerDB4	BRCA	TCGA-E9-A1N6-01A	NF1	chr17	29422387	+	ACACA	chr17	35518964	-

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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)
ENST00000356175	NF1	chr17	29422387	+	ENST00000353139	ACACA	chr17	35518964	-	4844	443	254	2515	753
ENST00000356175	NF1	chr17	29422387	+	ENST00000360679	ACACA	chr17	35518964	-	4838	443	254	2515	753
ENST00000356175	NF1	chr17	29422387	+	ENST00000394406	ACACA	chr17	35518964	-	4838	443	254	2515	753
ENST00000356175	NF1	chr17	29422387	+	ENST00000335166	ACACA	chr17	35518964	-	3015	443	254	2515	753
ENST00000358273	NF1	chr17	29422387	+	ENST00000353139	ACACA	chr17	35518964	-	4844	443	254	2515	753
ENST00000358273	NF1	chr17	29422387	+	ENST00000360679	ACACA	chr17	35518964	-	4838	443	254	2515	753
ENST00000358273	NF1	chr17	29422387	+	ENST00000394406	ACACA	chr17	35518964	-	4838	443	254	2515	753
ENST00000358273	NF1	chr17	29422387	+	ENST00000335166	ACACA	chr17	35518964	-	3015	443	254	2515	753
ENST00000431387	NF1	chr17	29422387	+	ENST00000353139	ACACA	chr17	35518964	-	4794	393	204	2465	753
ENST00000431387	NF1	chr17	29422387	+	ENST00000360679	ACACA	chr17	35518964	-	4788	393	204	2465	753
ENST00000431387	NF1	chr17	29422387	+	ENST00000394406	ACACA	chr17	35518964	-	4788	393	204	2465	753
ENST00000431387	NF1	chr17	29422387	+	ENST00000335166	ACACA	chr17	35518964	-	2965	393	204	2465	753

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	ENST00000353139	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001613614	0.9983864
ENST00000356175	ENST00000360679	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001618409	0.9983816
ENST00000356175	ENST00000394406	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001618409	0.9983816
ENST00000356175	ENST00000335166	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.002001529	0.9979984
ENST00000358273	ENST00000353139	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001613614	0.9983864
ENST00000358273	ENST00000360679	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001618409	0.9983816
ENST00000358273	ENST00000394406	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001618409	0.9983816
ENST00000358273	ENST00000335166	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.002001529	0.9979984
ENST00000431387	ENST00000353139	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001586026	0.9984139
ENST00000431387	ENST00000360679	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001592263	0.9984078
ENST00000431387	ENST00000394406	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001592263	0.9984078
ENST00000431387	ENST00000335166	NF1	chr17	29422387	+	ACACA	chr17	35518964	-	0.001925864	0.9980742

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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

>58666_58666_1_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000335166_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_2_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000353139_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_3_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000360679_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_4_NF1-ACACA_NF1_chr17_29422387_ENST00000356175_ACACA_chr17_35518964_ENST00000394406_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_5_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000335166_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_6_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000353139_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_7_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000360679_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_8_NF1-ACACA_NF1_chr17_29422387_ENST00000358273_ACACA_chr17_35518964_ENST00000394406_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_9_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000335166_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_10_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000353139_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_11_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000360679_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

>58666_58666_12_NF1-ACACA_NF1_chr17_29422387_ENST00000431387_ACACA_chr17_35518964_ENST00000394406_length(amino acids)=753AA_BP=62
MGACTPQTLSLPLPSPQPPLPALFPAQGAGPPFPPPPPGRGEDMAAHRPVEWVQAVVSRFDEQIGMVAWKMTFKSPEYPEGRDIIVIGND
ITYRIGSFGPQEDLLFLRASELARAEGIPRIYVSANSGARIGLAEEIRHMFHVAWVDPEDPYKGYRYLYLTPQDYKRVSALNSVHCEHVE
DEGESRYKITDIIGKEEGIGPENLRGSGMIAGESSLAYNEIITISLVTCRAIGIGAYLVRLGQRTIQVENSHLILTGAGALNKVLGREVY
TSNNQLGGIQIMHNNGVTHCTVCDDFEGVFTVLHWLSYMPKSVHSSVPLLNSKDPIDRIIEFVPTKTPYDPRWMLAGRPHPTQKGQWLSG
FFDYGSFSEIMQPWAQTVVVGRARLGGIPVGVVAVETRTVELSIPADPANLDSEAKIIQQAGQVWFPDSAFKTYQAIKDFNREGLPLMVF
ANWRGFSGGMKDMYDQVLKFGAYIVDGLRECCQPVLVYIPPQAELRGGSWVVIDSSINPRHMEMYADRESRGSVLEPEGTVEIKFRRKDL
VKTMRRVDPVYIHLAERLGTPELSTAERKELENKLKEREEFLIPIYHQVAVQFADLHDTPGRMQEKGVISDILDWKTSRTFFYWRLRRLL
LEDLVKKKIHNANPELTDGQIQAMLRRWFVEVEGTVKAYVWDNNKDLAEWLEKQLTEEDGVHSVIEENIKCISRDYVLKQIRSLVQANPE

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

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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/chr17:29422387/chr17:35518964)
- 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	ACACA Q13085
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: Cytosolic enzyme that catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the first and rate-limiting step of de novo fatty acid biosynthesis (PubMed:20952656, PubMed:20457939, PubMed:29899443). This is a 2 steps reaction starting with the ATP-dependent carboxylation of the biotin carried by the biotin carboxyl carrier (BCC) domain followed by the transfer of the carboxyl group from carboxylated biotin to acetyl-CoA (PubMed:20952656, PubMed:20457939, PubMed:29899443). {ECO:0000269\|PubMed:20457939, ECO:0000269\|PubMed:20952656, ECO:0000269\|PubMed:29899443}.

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

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

1576_1914

1578.0

2269.0

Domain

CoA carboxyltransferase N-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

1918_2234

1578.0

2269.0

Domain

CoA carboxyltransferase C-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

1918_2234

1693.0

2384.0

Domain

CoA carboxyltransferase C-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

1918_2234

1598.0

2289.0

Domain

CoA carboxyltransferase C-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

1918_2234

1656.0

2347.0

Domain

CoA carboxyltransferase C-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

1576_2234

1578.0

2269.0

Region

Carboxyltransferase

- 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

chr17:29422387

chr17:35518964

ENST00000356175

1352_1355

20.0

2819.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000358273

1352_1355

20.0

2840.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000431387

1352_1355

20.0

594.0

Compositional bias

Note=Poly-Ser

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000356175

1235_1451

20.0

2819.0

Domain

Ras-GAP

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000356175

1580_1738

20.0

2819.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000358273

1235_1451

20.0

2840.0

Domain

Ras-GAP

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000358273

1580_1738

20.0

2840.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000431387

1235_1451

20.0

594.0

Domain

Ras-GAP

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000431387

1580_1738

20.0

594.0

Domain

CRAL-TRIO

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000356175

2555_2571

20.0

2819.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000358273

2555_2571

20.0

2840.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000431387

2555_2571

20.0

594.0

Motif

Note=Bipartite nuclear localization signal

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000356175

1580_1837

20.0

2819.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000358273

1580_1837

20.0

2840.0

Region

Note=Lipid binding

Hgene

NF1

chr17:29422387

chr17:35518964

ENST00000431387

1580_1837

20.0

594.0

Region

Note=Lipid binding

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

117_618

1578.0

2269.0

Domain

Biotin carboxylation

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

275_466

1578.0

2269.0

Domain

ATP-grasp

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

745_819

1578.0

2269.0

Domain

Biotinyl-binding

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

117_618

1693.0

2384.0

Domain

Biotin carboxylation

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

1576_1914

1693.0

2384.0

Domain

CoA carboxyltransferase N-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

275_466

1693.0

2384.0

Domain

ATP-grasp

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

745_819

1693.0

2384.0

Domain

Biotinyl-binding

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

117_618

1598.0

2289.0

Domain

Biotin carboxylation

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

1576_1914

1598.0

2289.0

Domain

CoA carboxyltransferase N-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

275_466

1598.0

2289.0

Domain

ATP-grasp

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

745_819

1598.0

2289.0

Domain

Biotinyl-binding

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

117_618

1656.0

2347.0

Domain

Biotin carboxylation

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

1576_1914

1656.0

2347.0

Domain

CoA carboxyltransferase N-terminal

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

275_466

1656.0

2347.0

Domain

ATP-grasp

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

745_819

1656.0

2347.0

Domain

Biotinyl-binding

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000335166

315_320

1578.0

2269.0

Nucleotide binding

ATP

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

315_320

1693.0

2384.0

Nucleotide binding

ATP

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

315_320

1598.0

2289.0

Nucleotide binding

ATP

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

315_320

1656.0

2347.0

Nucleotide binding

ATP

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000353139

1576_2234

1693.0

2384.0

Region

Carboxyltransferase

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000360679

1576_2234

1598.0

2289.0

Region

Carboxyltransferase

Tgene

ACACA

chr17:29422387

chr17:35518964

ENST00000394406

1576_2234

1656.0

2347.0

Region

Carboxyltransferase

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
ACACA

- 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

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Related Drugs to NF1-ACACA

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 NF1-ACACA

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