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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:BRCA1-NF1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BRCA1-NF1
FusionPDB ID: 10152
FusionGDB2.0 ID: 10152
HgeneTgene
Gene symbol

BRCA1

NF1

Gene ID

672

4763

Gene nameBRCA1 DNA repair associatedneurofibromin 1
SynonymsBRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53NFNS|VRNF|WSS
Cytomap

17q21.31

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionbreast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer neurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1
Modification date2020032920200322
UniProtAcc

UIMC1

P21359

Ensembl transtripts involved in fusion geneENST idsENST00000309486, ENST00000346315, 
ENST00000351666, ENST00000352993, 
ENST00000354071, ENST00000357654, 
ENST00000468300, ENST00000471181, 
ENST00000491747, ENST00000493795, 
ENST00000586385, ENST00000591534, 
ENST00000591849, 		ENST00000581113, 
ENST00000417592, ENST00000431387, 
ENST00000444181, ENST00000356175, 
ENST00000358273, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 8 X 7=50428 X 30 X 15=12600
# samples 933
** MAII scorelog2(9/504*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(33/12600*10)=-5.25481389902883
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BRCA1 [Title/Abstract] AND NF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BRCA1(41199660)-NF1(29654517), # samples:2
NF1(29653270)-BRCA1(41215968), # samples:2
Anticipated loss of major functional domain due to fusion event.BRCA1-NF1 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.
BRCA1-NF1 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.
BRCA1-NF1 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.
BRCA1-NF1 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.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BRCA1-NF1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
NF1-BRCA1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBRCA1

GO:0000724

double-strand break repair via homologous recombination

17349954

HgeneBRCA1

GO:0006301

postreplication repair

17349954

HgeneBRCA1

GO:0006302

double-strand break repair

22186889

HgeneBRCA1

GO:0008630

intrinsic apoptotic signaling pathway in response to DNA damage

14654789

HgeneBRCA1

GO:0016567

protein ubiquitination

17349954

HgeneBRCA1

GO:0031398

positive regulation of protein ubiquitination

15965487

HgeneBRCA1

GO:0035066

positive regulation of histone acetylation

20820192

HgeneBRCA1

GO:0043627

response to estrogen

8895509

HgeneBRCA1

GO:0045892

negative regulation of transcription, DNA-templated

16288014

HgeneBRCA1

GO:0045893

positive regulation of transcription, DNA-templated

20160719

HgeneBRCA1

GO:0045944

positive regulation of transcription by RNA polymerase II

16331276

HgeneBRCA1

GO:0051571

positive regulation of histone H3-K4 methylation

20820192

HgeneBRCA1

GO:0051573

negative regulation of histone H3-K9 methylation

20820192

HgeneBRCA1

GO:0051865

protein autoubiquitination

12890688|20351172

HgeneBRCA1

GO:0070512

positive regulation of histone H4-K20 methylation

20820192

HgeneBRCA1

GO:0071158

positive regulation of cell cycle arrest

21102443

HgeneBRCA1

GO:0071681

cellular response to indole-3-methanol

10868478

HgeneBRCA1

GO:0085020

protein K6-linked ubiquitination

12890688|20351172

HgeneBRCA1

GO:2000617

positive regulation of histone H3-K9 acetylation

20820192

HgeneBRCA1

GO:2000620

positive regulation of histone H4-K16 acetylation

20820192

TgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371


check buttonFusion gene breakpoints across BRCA1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-2A-A8W1-01ABRCA1chr17

41199660

-NF1chr17

29654517

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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000591534BRCA1chr1741199660-ENST00000356175NF1chr1729654517+7816104297342931106
ENST00000591534BRCA1chr1741199660-ENST00000358273NF1chr1729654517+7816104297342931106

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000591534ENST00000356175BRCA1chr1741199660-NF1chr1729654517+0.0004665510.9995334
ENST00000591534ENST00000358273BRCA1chr1741199660-NF1chr1729654517+0.0004665510.9995334

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Fusion Amino Acid Sequences


check button 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

>10152_10152_1_BRCA1-NF1_BRCA1_chr17_41199660_ENST00000591534_NF1_chr17_29654517_ENST00000356175_length(amino acids)=1106AA_BP=23
MAQVSTQLWLCSQMPGQRTMASMVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQS
IIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISK
TLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQI
TDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNS
LDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYR
DRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSK
ALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAI
RNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRC
SLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKS
FDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDE
FDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQ
IPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRT

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

>10152_10152_2_BRCA1-NF1_BRCA1_chr17_41199660_ENST00000591534_NF1_chr17_29654517_ENST00000358273_length(amino acids)=1106AA_BP=23
MAQVSTQLWLCSQMPGQRTMASMVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQS
IIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISK
TLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQI
TDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNS
LDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYR
DRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSK
ALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAI
RNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRC
SLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKS
FDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDE
FDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQ
IPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRT

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:41199660/chr17:29654517)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BRCA1

UIMC1

NF1

P21359

719FUNCTION: 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}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBRCA1chr17:41199660chr17:29654517ENST00000352993-2122651_654680.3333333333334722.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41199660chr17:29654517ENST00000357654-2223651_6541822.33333333333331864.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41199660chr17:29654517ENST00000468300-2122651_654693.6666666666666700.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41199660chr17:29654517ENST00000491747-2223651_654718.3333333333334760.0Compositional biasNote=Poly-Lys
HgeneBRCA1chr17:41199660chr17:29654517ENST00000357654-22231642_17361822.33333333333331864.0DomainBRCT 1
HgeneBRCA1chr17:41199660chr17:29654517ENST00000352993-212224_65680.3333333333334722.0Zinc fingerRING-type
HgeneBRCA1chr17:41199660chr17:29654517ENST00000357654-222324_651822.33333333333331864.0Zinc fingerRING-type
HgeneBRCA1chr17:41199660chr17:29654517ENST00000468300-212224_65693.6666666666666700.0Zinc fingerRING-type
HgeneBRCA1chr17:41199660chr17:29654517ENST00000491747-222324_65718.3333333333334760.0Zinc fingerRING-type
TgeneNF1chr17:41199660chr17:29654517ENST000004313870151352_13550594.0Compositional biasNote=Poly-Ser
TgeneNF1chr17:41199660chr17:29654517ENST000004313870151235_14510594.0DomainRas-GAP
TgeneNF1chr17:41199660chr17:29654517ENST000004313870151580_17380594.0DomainCRAL-TRIO
TgeneNF1chr17:41199660chr17:29654517ENST0000035617535572555_25711735.02819.0MotifNote=Bipartite nuclear localization signal
TgeneNF1chr17:41199660chr17:29654517ENST0000035827336582555_25711756.02840.0MotifNote=Bipartite nuclear localization signal
TgeneNF1chr17:41199660chr17:29654517ENST000004313870152555_25710594.0MotifNote=Bipartite nuclear localization signal
TgeneNF1chr17:41199660chr17:29654517ENST000004313870151580_18370594.0RegionNote=Lipid binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBRCA1chr17:41199660chr17:29654517ENST00000352993-21221642_1736680.3333333333334722.0DomainBRCT 1
HgeneBRCA1chr17:41199660chr17:29654517ENST00000352993-21221756_1855680.3333333333334722.0DomainBRCT 2
HgeneBRCA1chr17:41199660chr17:29654517ENST00000357654-22231756_18551822.33333333333331864.0DomainBRCT 2
HgeneBRCA1chr17:41199660chr17:29654517ENST00000468300-21221642_1736693.6666666666666700.0DomainBRCT 1
HgeneBRCA1chr17:41199660chr17:29654517ENST00000468300-21221756_1855693.6666666666666700.0DomainBRCT 2
HgeneBRCA1chr17:41199660chr17:29654517ENST00000491747-22231642_1736718.3333333333334760.0DomainBRCT 1
HgeneBRCA1chr17:41199660chr17:29654517ENST00000491747-22231756_1855718.3333333333334760.0DomainBRCT 2
TgeneNF1chr17:41199660chr17:29654517ENST0000035617535571352_13551735.02819.0Compositional biasNote=Poly-Ser
TgeneNF1chr17:41199660chr17:29654517ENST0000035827336581352_13551756.02840.0Compositional biasNote=Poly-Ser
TgeneNF1chr17:41199660chr17:29654517ENST0000035617535571235_14511735.02819.0DomainRas-GAP
TgeneNF1chr17:41199660chr17:29654517ENST0000035617535571580_17381735.02819.0DomainCRAL-TRIO
TgeneNF1chr17:41199660chr17:29654517ENST0000035827336581235_14511756.02840.0DomainRas-GAP
TgeneNF1chr17:41199660chr17:29654517ENST0000035827336581580_17381756.02840.0DomainCRAL-TRIO
TgeneNF1chr17:41199660chr17:29654517ENST0000035617535571580_18371735.02819.0RegionNote=Lipid binding
TgeneNF1chr17:41199660chr17:29654517ENST0000035827336581580_18371756.02840.0RegionNote=Lipid binding


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors
NF1HRAS, 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,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
BRCA1
NF1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneBRCA1chr17:41199660chr17:29654517ENST00000352993-21221397_1424680.3333333333334722.0PALB2
HgeneBRCA1chr17:41199660chr17:29654517ENST00000468300-21221397_1424693.6666666666666700.0PALB2
HgeneBRCA1chr17:41199660chr17:29654517ENST00000491747-22231397_1424718.3333333333334760.0PALB2


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Related Drugs to BRCA1-NF1


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

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Related Diseases to BRCA1-NF1


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

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNF1C0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNF1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
TgeneNF1C0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNF1C2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneNF1C0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNF1C0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
TgeneNF1C0004114Astrocytoma2CTD_human
TgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneNF1C0025202melanoma2CGI;CTD_human
TgeneNF1C0026998Acute Myeloid Leukemia, M12CTD_human
TgeneNF1C0205768Subependymal Giant Cell Astrocytoma2CTD_human
TgeneNF1C0206727Nerve Sheath Tumors2CTD_human
TgeneNF1C0280783Juvenile Pilocytic Astrocytoma2CTD_human
TgeneNF1C0280785Diffuse Astrocytoma2CTD_human
TgeneNF1C0334579Anaplastic astrocytoma2CTD_human
TgeneNF1C0334580Protoplasmic astrocytoma2CTD_human
TgeneNF1C0334581Gemistocytic astrocytoma2CTD_human
TgeneNF1C0334582Fibrillary Astrocytoma2CTD_human
TgeneNF1C0334583Pilocytic Astrocytoma2CTD_human
TgeneNF1C0338070Childhood Cerebral Astrocytoma2CTD_human
TgeneNF1C0547065Mixed oligoastrocytoma2CTD_human
TgeneNF1C0750935Cerebral Astrocytoma2CTD_human
TgeneNF1C0750936Intracranial Astrocytoma2CTD_human
TgeneNF1C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
TgeneNF1C0751691Perineurioma2CTD_human
TgeneNF1C1704230Grade I Astrocytoma2CTD_human
TgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneNF1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
TgeneNF1C0001430Adenoma1CTD_human
TgeneNF1C0004352Autistic Disorder1CTD_human
TgeneNF1C0016057Fibrosarcoma1CTD_human
TgeneNF1C0017636Glioblastoma1CTD_human
TgeneNF1C0017638Glioma1CGI;CTD_human
TgeneNF1C0020796Profound Mental Retardation1CTD_human
TgeneNF1C0023186Learning Disorders1CTD_human
TgeneNF1C0023827liposarcoma1CTD_human
TgeneNF1C0025363Mental Retardation, Psychosocial1CTD_human
TgeneNF1C0026654Moyamoya Disease1GENOMICS_ENGLAND
TgeneNF1C0027809Neurilemmoma1CTD_human
TgeneNF1C0027830neurofibroma1CTD_human
TgeneNF1C0027962Melanocytic nevus1CTD_human
TgeneNF1C0028326Noonan Syndrome1GENOMICS_ENGLAND
TgeneNF1C0031511Pheochromocytoma1CTD_human
TgeneNF1C0035320Retinal Neovascularization1CTD_human
TgeneNF1C0205646Adenoma, Basal Cell1CTD_human
TgeneNF1C0205647Follicular adenoma1CTD_human
TgeneNF1C0205648Adenoma, Microcystic1CTD_human
TgeneNF1C0205649Adenoma, Monomorphic1CTD_human
TgeneNF1C0205650Papillary adenoma1CTD_human
TgeneNF1C0205651Adenoma, Trabecular1CTD_human
TgeneNF1C0205824Liposarcoma, Dedifferentiated1CTD_human
TgeneNF1C0205825Liposarcoma, Pleomorphic1CTD_human
TgeneNF1C0205944Sarcoma, Epithelioid1CTD_human
TgeneNF1C0205945Sarcoma, Spindle Cell1CTD_human
TgeneNF1C0259783mixed gliomas1CTD_human
TgeneNF1C0334588Giant Cell Glioblastoma1CTD_human
TgeneNF1C0555198Malignant Glioma1CTD_human
TgeneNF1C0751262Adult Learning Disorders1CTD_human
TgeneNF1C0751263Learning Disturbance1CTD_human
TgeneNF1C0751265Learning Disabilities1CTD_human
TgeneNF1C0751374Schwannomatosis, Plexiform1CTD_human
TgeneNF1C0917816Mental deficiency1CTD_human
TgeneNF1C0917817Neurofibromatosis 31CTD_human
TgeneNF1C1257877Pheochromocytoma, Extra-Adrenal1CTD_human
TgeneNF1C1261473Sarcoma1CTD_human
TgeneNF1C1330966Developmental Academic Disorder1CTD_human
TgeneNF1C1370889Liposarcoma, well differentiated1CTD_human
TgeneNF1C1621958Glioblastoma Multiforme1CTD_human
TgeneNF1C3150928NF1 Microdeletion Syndrome1ORPHANET
TgeneNF1C3714756Intellectual Disability1CTD_human