FusionNeoAntigen Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine
leaf

Fusion Gene and Fusion Protein Summary

leaf

Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

leaf

Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

leaf

Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

leaf

Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

leaf

Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

leaf

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

leaf

Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

leaf

Potential target of CAR-T therapy development

leaf

Information on the samples that have these potential fusion neoantigens

leaf

Fusion Protein Targeting Drugs - (Manual Curation)

leaf

Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:NF1-ATAD5

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NF1-ATAD5
FusionPDB ID: 58672
FusionGDB2.0 ID: 58672
HgeneTgene
Gene symbol

NF1

ATAD5

Gene ID

4763

79915

Gene nameneurofibromin 1ATPase family AAA domain containing 5
SynonymsNFNS|VRNF|WSSC17orf41|ELG1|FRAG1
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1ATPase family AAA domain-containing protein 5chromosome fragility associated gene 1chromosome fragility-associated gene 1 proteinenhanced level of genomic instability 1 homolog
Modification date2020032220200313
UniProtAcc

P21359

Main function of 5'-partner protein: 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}.

Q96QE3

Main function of 5'-partner protein: FUNCTION: Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis. {ECO:0000269|PubMed:15983387}.
Ensembl transtripts involved in fusion geneENST idsENST00000356175, ENST00000358273, 
ENST00000431387, ENST00000417592, 
ENST00000444181, ENST00000581113, 
ENST00000321990, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score47 X 26 X 21=256625 X 7 X 5=175
# samples 698
** MAII scorelog2(69/25662*10)=-5.21689344093196
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: NF1 [Title/Abstract] AND ATAD5 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: NF1 [Title/Abstract] AND ATAD5 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATAD5(29159431)-NF1(29483000), # samples:2
NF1(29497015)-ATAD5(29192722), # samples:2
Anticipated loss of major functional domain due to fusion event.ATAD5-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.
ATAD5-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.
NF1-ATAD5 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-ATAD5 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-ATAD5 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-ATAD5 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-ATAD5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
NF1-ATAD5 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
NF1-ATAD5 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneNF1

GO:0043547

positive regulation of GTPase activity

2121371



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/chr17:29159431/chr17:29483000)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion 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.
all structure

check buttonFusion gene breakpoints across ATAD5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Amino Acid Sequences


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)
ENST00000356175NF1chr1729497015+ENST00000321990ATAD5chr1729192722+432496925433671037
ENST00000358273NF1chr1729497015+ENST00000321990ATAD5chr1729192722+432496925433671037
ENST00000431387NF1chr1729497015+ENST00000321990ATAD5chr1729192722+427491920433171037
ENST00000356175NF1chr1729533389-ENST00000321990ATAD5chr1729161166+8200177525472432329
ENST00000358273NF1chr1729533389-ENST00000321990ATAD5chr1729161166+8200177525472432329
ENST00000431387NF1chr1729533389-ENST00000321990ATAD5chr1729161166+8150172520471932329

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
ENST00000356175ENST00000321990NF1chr1729497015+ATAD5chr1729192722+0.0001579890.9998419
ENST00000358273ENST00000321990NF1chr1729497015+ATAD5chr1729192722+0.0001579890.9998419
ENST00000431387ENST00000321990NF1chr1729497015+ATAD5chr1729192722+0.0001519050.9998481
ENST00000356175ENST00000321990NF1chr1729533389-ATAD5chr1729161166+0.0003196420.9996804
ENST00000358273ENST00000321990NF1chr1729533389-ATAD5chr1729161166+0.0003196420.9996804
ENST00000431387ENST00000321990NF1chr1729533389-ATAD5chr1729161166+0.0003042950.9996958

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

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

Top

Fusion Protein Breakpoint Sequences for NF1-ATAD5

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
NF1chr1729497015ATAD5chr1729192722919238INVDCAKLKRLLKDSGTEDMLWTEKY
NF1chr1729497015ATAD5chr1729192722969238INVDCAKLKRLLKDSGTEDMLWTEKY
NF1chr1729533389ATAD5chr17291611661725507QGCGAHPAIRMAPPCKKRKKDDDTST
NF1chr1729533389ATAD5chr17291611661775507QGCGAHPAIRMAPPCKKRKKDDDTST

Top

Potential FusionNeoAntigen Information of NF1-ATAD5 in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
NF1-ATAD5_29497015_29192722.msa
NF1-ATAD5_29533389_29161166.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
NF1-ATAD5chr1729497015chr1729192722969HLA-B57:01KDSGTEDMLW0.99850.99571222
NF1-ATAD5chr1729497015chr1729192722969HLA-B58:02KDSGTEDMLW0.99410.97911222
NF1-ATAD5chr1729497015chr1729192722969HLA-B58:01KDSGTEDMLW0.9940.99111222
NF1-ATAD5chr1729497015chr1729192722969HLA-B57:03KDSGTEDMLW0.96080.99741222
NF1-ATAD5chr1729497015chr1729192722969HLA-B58:01LKDSGTEDMLW0.99960.99291122
NF1-ATAD5chr1729497015chr1729192722969HLA-B39:11LKDSGTEDM0.36240.85881120
NF1-ATAD5chr1729497015chr1729192722969HLA-B57:10KDSGTEDMLW0.99850.99571222
NF1-ATAD5chr1729497015chr1729192722969HLA-B57:04KDSGTEDMLW0.99380.81731222
NF1-ATAD5chr1729497015chr1729192722969HLA-B15:73LLKDSGTEDM0.97870.83051020
NF1-ATAD5chr1729497015chr1729192722969HLA-B15:30LLKDSGTEDM0.96970.92991020
NF1-ATAD5chr1729497015chr1729192722969HLA-B57:02KDSGTEDMLW0.94960.96711222
NF1-ATAD5chr1729497015chr1729192722969HLA-B15:30LLKDSGTEDML0.99780.96231021
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:05IRMAPPCKK0.99820.7462817
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:08AIRMAPPCK0.99620.854716
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:04IRMAPPCKK0.99340.7245817
NF1-ATAD5chr1729533389chr17291611661775HLA-A74:03RMAPPCKKR0.990.5784918
NF1-ATAD5chr1729533389chr17291611661775HLA-A74:11RMAPPCKKR0.990.5784918
NF1-ATAD5chr1729533389chr17291611661775HLA-A74:09RMAPPCKKR0.990.5784918
NF1-ATAD5chr1729533389chr17291611661775HLA-A31:02RMAPPCKKR0.95210.57918
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:08AIRMAPPCKK0.99660.849717
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:08RMAPPCKKRK0.99530.6963919
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:05AIRMAPPCKK0.75240.701717
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:08RMAPPCKKRKK0.99730.7245920
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:14IRMAPPCKK0.99630.6931817
NF1-ATAD5chr1729533389chr17291611661775HLA-A31:01RMAPPCKKR0.99010.5006918
NF1-ATAD5chr1729533389chr17291611661775HLA-B54:01HPAIRMAPP0.98860.5301514
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:03IRMAPPCKK0.96320.7699817
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:14AIRMAPPCKK0.67840.7073717
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:10IRMAPPCKK0.99750.8248817
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:01AIRMAPPCK0.9960.923716
NF1-ATAD5chr1729533389chr17291611661775HLA-A74:01RMAPPCKKR0.990.5784918
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:01AIRMAPPCKK0.99630.9178717
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:01RMAPPCKKRK0.99540.7992919
NF1-ATAD5chr1729533389chr17291611661775HLA-B27:10AIRMAPPCKK0.70740.8847717
NF1-ATAD5chr1729533389chr17291611661775HLA-A30:01RMAPPCKKRKK0.99730.8092920

Top

Potential FusionNeoAntigen Information of NF1-ATAD5 in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
NF1-ATAD5_29533389_29161166.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)
NF1-ATAD5chr1729533389chr17291611661775DRB5-0101HPAIRMAPPCKKRKK520
NF1-ATAD5chr1729533389chr17291611661775DRB5-0104HPAIRMAPPCKKRKK520
NF1-ATAD5chr1729533389chr17291611661775DRB5-0105HPAIRMAPPCKKRKK520
NF1-ATAD5chr1729533389chr17291611661775DRB5-0113HPAIRMAPPCKKRKK520
NF1-ATAD5chr1729533389chr17291611661775DRB5-0114HPAIRMAPPCKKRKK520

Top

Fusion breakpoint peptide structures of NF1-ATAD5

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
4389KLKRLLKDSGTEDMNF1ATAD5chr1729497015chr1729192722969
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
6486PAIRMAPPCKKRKKNF1ATAD5chr1729533389chr17291611661775

Top

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NF1-ATAD5

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN4389KLKRLLKDSGTEDM-6.46878-6.66328
HLA-B14:023BVN4389KLKRLLKDSGTEDM-4.33704-5.09154
HLA-B52:013W394389KLKRLLKDSGTEDM-6.45088-7.20538
HLA-B52:013W394389KLKRLLKDSGTEDM-6.08714-6.28164
HLA-A11:014UQ24389KLKRLLKDSGTEDM-7.67344-8.42794
HLA-A24:025HGA4389KLKRLLKDSGTEDM-7.49907-7.69357
HLA-A24:025HGA4389KLKRLLKDSGTEDM-4.36357-5.11807
HLA-B27:056PYJ4389KLKRLLKDSGTEDM-8.53231-9.28681
HLA-B44:053DX84389KLKRLLKDSGTEDM-5.69992-5.89442
HLA-B44:053DX84389KLKRLLKDSGTEDM-3.58931-4.34381
HLA-A02:016TDR4389KLKRLLKDSGTEDM-7.78181-7.97631
HLA-B14:023BVN6486PAIRMAPPCKKRKK-6.46091-6.65291
HLA-B14:023BVN6486PAIRMAPPCKKRKK-6.14526-6.90626
HLA-B52:013W396486PAIRMAPPCKKRKK-6.09464-6.28664
HLA-B52:013W396486PAIRMAPPCKKRKK-3.33188-4.09288
HLA-A11:014UQ26486PAIRMAPPCKKRKK-8.94922-9.71022
HLA-A11:014UQ26486PAIRMAPPCKKRKK-8.29088-8.48288
HLA-A24:025HGA6486PAIRMAPPCKKRKK-5.57033-5.76233
HLA-A24:025HGA6486PAIRMAPPCKKRKK-4.66591-5.42691
HLA-B27:056PYJ6486PAIRMAPPCKKRKK0.337095-0.423905
HLA-B44:053DX86486PAIRMAPPCKKRKK-5.33079-5.52279
HLA-B44:053DX86486PAIRMAPPCKKRKK-3.79122-4.55222
HLA-A02:016TDR6486PAIRMAPPCKKRKK-5.49294-5.68494
HLA-A02:016TDR6486PAIRMAPPCKKRKK-1.54942-2.31042

Top

Vaccine Design for the FusionNeoAntigens of NF1-ATAD5

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
NF1-ATAD5chr1729497015chr17291927221020LLKDSGTEDMTCCTGAAGGATTCTGGAACTGAAGACATGC
NF1-ATAD5chr1729497015chr17291927221021LLKDSGTEDMLTCCTGAAGGATTCTGGAACTGAAGACATGCTTT
NF1-ATAD5chr1729497015chr17291927221120LKDSGTEDMTGAAGGATTCTGGAACTGAAGACATGC
NF1-ATAD5chr1729497015chr17291927221122LKDSGTEDMLWTGAAGGATTCTGGAACTGAAGACATGCTTTGGA
NF1-ATAD5chr1729497015chr17291927221222KDSGTEDMLWAGGATTCTGGAACTGAAGACATGCTTTGGA
NF1-ATAD5chr1729533389chr1729161166514HPAIRMAPPCACCCAGCAATACGAATGGCACCGCCA
NF1-ATAD5chr1729533389chr1729161166716AIRMAPPCKGCAATACGAATGGCACCGCCATGCAAA
NF1-ATAD5chr1729533389chr1729161166717AIRMAPPCKKGCAATACGAATGGCACCGCCATGCAAAAAG
NF1-ATAD5chr1729533389chr1729161166817IRMAPPCKKATACGAATGGCACCGCCATGCAAAAAG
NF1-ATAD5chr1729533389chr1729161166918RMAPPCKKRCGAATGGCACCGCCATGCAAAAAGCGA
NF1-ATAD5chr1729533389chr1729161166919RMAPPCKKRKCGAATGGCACCGCCATGCAAAAAGCGAAAG
NF1-ATAD5chr1729533389chr1729161166920RMAPPCKKRKKCGAATGGCACCGCCATGCAAAAAGCGAAAGAAA

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
NF1-ATAD5chr1729533389chr1729161166520HPAIRMAPPCKKRKKCACCCAGCAATACGAATGGCACCGCCATGCAAAAAGCGAAAGAAA

Top

Information of the samples that have these potential fusion neoantigens of NF1-ATAD5

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
BRCANF1-ATAD5chr1729497015ENST00000356175chr1729192722ENST00000321990TCGA-E2-A1LE-01A
STADNF1-ATAD5chr1729533389ENST00000356175chr1729161166ENST00000321990TCGA-CG-4440-01A

Top

Potential target of CAR-T therapy development for NF1-ATAD5

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

Top

Related Drugs to NF1-ATAD5

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

Top

Related Diseases to NF1-ATAD5

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
HgeneNF1C0027831Neurofibromatosis 144CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome10CLINGEN
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia7CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneNF1C0553586Cafe-au-lait macules with pulmonary stenosis5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneNF1C0162678Neurofibromatoses3CGI;CTD_human;GENOMICS_ENGLAND
HgeneNF1C0004114Astrocytoma2CTD_human
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CGI;CTD_human
HgeneNF1C0026998Acute Myeloid Leukemia, M12CTD_human
HgeneNF1C0205768Subependymal Giant Cell Astrocytoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0280783Juvenile Pilocytic Astrocytoma2CTD_human
HgeneNF1C0280785Diffuse Astrocytoma2CTD_human
HgeneNF1C0334579Anaplastic astrocytoma2CTD_human
HgeneNF1C0334580Protoplasmic astrocytoma2CTD_human
HgeneNF1C0334581Gemistocytic astrocytoma2CTD_human
HgeneNF1C0334582Fibrillary Astrocytoma2CTD_human
HgeneNF1C0334583Pilocytic Astrocytoma2CTD_human
HgeneNF1C0338070Childhood Cerebral Astrocytoma2CTD_human
HgeneNF1C0547065Mixed oligoastrocytoma2CTD_human
HgeneNF1C0750935Cerebral Astrocytoma2CTD_human
HgeneNF1C0750936Intracranial Astrocytoma2CTD_human
HgeneNF1C0751689Peripheral Nerve Sheath Neoplasm2CTD_human
HgeneNF1C0751691Perineurioma2CTD_human
HgeneNF1C1704230Grade I Astrocytoma2CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNF1C1879321Acute Myeloid Leukemia (AML-M2)2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CGI;CTD_human
HgeneNF1C0020796Profound Mental Retardation1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneNF1C0026654Moyamoya Disease1GENOMICS_ENGLAND
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0028326Noonan Syndrome1GENOMICS_ENGLAND
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0035320Retinal Neovascularization1CTD_human
HgeneNF1C0205646Adenoma, Basal Cell1CTD_human
HgeneNF1C0205647Follicular adenoma1CTD_human
HgeneNF1C0205648Adenoma, Microcystic1CTD_human
HgeneNF1C0205649Adenoma, Monomorphic1CTD_human
HgeneNF1C0205650Papillary adenoma1CTD_human
HgeneNF1C0205651Adenoma, Trabecular1CTD_human
HgeneNF1C0205824Liposarcoma, Dedifferentiated1CTD_human
HgeneNF1C0205825Liposarcoma, Pleomorphic1CTD_human
HgeneNF1C0205944Sarcoma, Epithelioid1CTD_human
HgeneNF1C0205945Sarcoma, Spindle Cell1CTD_human
HgeneNF1C0259783mixed gliomas1CTD_human
HgeneNF1C0334588Giant Cell Glioblastoma1CTD_human
HgeneNF1C0555198Malignant Glioma1CTD_human
HgeneNF1C0751262Adult Learning Disorders1CTD_human
HgeneNF1C0751263Learning Disturbance1CTD_human
HgeneNF1C0751265Learning Disabilities1CTD_human
HgeneNF1C0751374Schwannomatosis, Plexiform1CTD_human
HgeneNF1C0917816Mental deficiency1CTD_human
HgeneNF1C0917817Neurofibromatosis 31CTD_human
HgeneNF1C1257877Pheochromocytoma, Extra-Adrenal1CTD_human
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1330966Developmental Academic Disorder1CTD_human
HgeneNF1C1370889Liposarcoma, well differentiated1CTD_human
HgeneNF1C1621958Glioblastoma Multiforme1CTD_human
HgeneNF1C3150928NF1 Microdeletion Syndrome1ORPHANET
HgeneNF1C3714756Intellectual Disability1CTD_human