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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24092

FusionGeneSummary for NF1_EZH2

check button Fusion gene summary
Fusion gene informationFusion gene name: NF1_EZH2
Fusion gene ID: 24092
HgeneTgene
Gene symbol

NF1

EZH2

Gene ID

4763

2146

Gene nameneurofibromin 1enhancer of zeste 2 polycomb repressive complex 2 subunit
SynonymsNFNS|VRNF|WSSENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2
Cytomap

17q11.2

7q36.1

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1histone-lysine N-methyltransferase EZH2enhancer of zeste homolog 2lysine N-methyltransferase 6
Modification date2018052720180527
UniProtAcc

P21359

Q15910

Ensembl transtripts involved in fusion geneENST00000356175, ENST00000358273, 
ENST00000431387, ENST00000581113, 
ENST00000417592, ENST00000444181, 
ENST00000478654, ENST00000460911, 
ENST00000350995, ENST00000320356, 
ENST00000541220, ENST00000476773, 
ENST00000483967, ENST00000536783, 
Fusion gene scores* DoF score35 X 18 X 19=119703 X 3 X 3=27
# samples 463
** MAII scorelog2(46/11970*10)=-4.70164548088649
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NF1 [Title/Abstract] AND EZH2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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

TgeneEZH2

GO:0000122

negative regulation of transcription by RNA polymerase II

20154697

TgeneEZH2

GO:0010718

positive regulation of epithelial to mesenchymal transition

20154697

TgeneEZH2

GO:0043406

positive regulation of MAP kinase activity

20154697

TgeneEZH2

GO:0043547

positive regulation of GTPase activity

20154697

TgeneEZH2

GO:0045814

negative regulation of gene expression, epigenetic

20154697

TgeneEZH2

GO:0070734

histone H3-K27 methylation

24474760

TgeneEZH2

GO:0071902

positive regulation of protein serine/threonine kinase activity

20154697


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPCPGTCGA-WB-A820-01ANF1chr17

29592357

+EZH2chr7

148544397

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000356175ENST00000478654NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000460911NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000350995NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000320356NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000541220NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000476773NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000483967NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000356175ENST00000536783NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000478654NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000460911NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000350995NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000320356NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000541220NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000476773NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000483967NF1chr17

29592357

+EZH2chr7

148544397

-
5CDS-5UTRENST00000358273ENST00000536783NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000478654NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000460911NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000350995NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000320356NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000541220NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000476773NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000483967NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000431387ENST00000536783NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000478654NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000460911NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000350995NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000320356NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000541220NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000476773NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000483967NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000581113ENST00000536783NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000478654NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000460911NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000350995NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000320356NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000541220NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000476773NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000483967NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000417592ENST00000536783NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000478654NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000460911NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000350995NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000320356NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000541220NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000476773NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000483967NF1chr17

29592357

+EZH2chr7

148544397

-
intron-5UTRENST00000444181ENST00000536783NF1chr17

29592357

+EZH2chr7

148544397

-

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FusionProtFeatures for NF1_EZH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF1

P21359

EZH2

Q15910

Stimulates the GTPase activity of Ras. NF1 shows greateraffinity for Ras GAP, but lower specific activity. May be aregulator 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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NF1_EZH2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NF1_EZH2


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's 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, NRASEZH2VAV1, EED, CCDC85B, ATRX, HDAC1, HDAC2, PHF1, ATP1A1, NINL, PSMB6, WDR61, RPN2, WSB2, GTF3C1, KLHDC2, PIN4, POLA2, SUZ12, ZMYND11, E2F6, SNAI1, JARID2, MTF2, RBBP4, KDM2B, EZH1, EZH2, CTNNB1, EWSR1, HIST1H3A, HIST1H1A, DNMT1, DNMT3A, DNMT3B, AKT1, KDM5A, SETD8, SIRT1, EPC1, MYOD1, YY1, RBL2, PHB2, PPP1R8, WT1, USP7, CDK1, CDK2, RUNX3, PPARG, POU5F1, PHF19, HOTAIR, HIST3H3, MAPK8IP2, C7orf25, GADD45G, TAF1D, MAPKAPK3, RASA1, ATP1B1, RPS6KA5, TNFSF11, MAP3K7, TK1, DNAJB11, SMN1, PFDN1, ZAK, GATA4, PJA1, CDYL, RELA, RELB, EHMT1, SMYD3, EPC2, CDKN2B-AS1, UHRF1, HIC1, HDAC3, RORA, PML, RARA, SS18, SSX2, TLE1, CDK6, ASXL1, ESR1, MED1, SUV39H1, KDM1A, PRMT5, CUL1, BTRC, JAK2, BRCA1, FBXW11, CEP63, LOXL2, VCP, NPLOC4, CPSF6, KIF5B, RAP1GAP, TDRD1, ACTG1, NUDT21, PLEC, UFD1L, THRAP3, CIT, WWP2, AEBP2, DHX9, ILF3, UBB, DDX5, SON, SNRPA, HIST4H4, UPF1, LIMA1, TAF15, FBXL18, PABPC4, U2AF1, SNRNP70, CALML3, POTEE, SNRPD3, YBX1, SNRPN, TUBB4B, ANXA4, LARP1, NCL, ARG1, SRSF1, C10orf12, TUBA1B, LUC7L2, TRIM28, AR, IMMT, FUS, SRSF3, WWP1, RBM14, SNRPD2, U2AF2, ATP5B, ELAVL1, FLG, HIST1H2AE, HIST1H2AB, DDX3X, FABP5, TRA2A, SAFB2, FAM120A, RALY, SRSF7, SNRPD1, SF3B1, HSPB1, SNRNP200, ZC3HAV1, COPB1, ILF2, KLC2, LRRC40, SRSF9, SERPINB12, CPSF1, GNB2L1, HSPA1A, HSPA1B, RBBP7, FIP1L1, PDCD6IP, SNRPF, SF3B2, ZNF638, ADAR, DBN1, PKM, SRSF10, EFTUD2, ACTN1, PHGDH, DSC3, ATP2A2, ASPSCR1, ATP5C1, EPRS, CHCHD3, IGLL5, KLC4, NUMA1, RBM39, SF3B3, TPI1, CNBP, DAZAP1, ERH, KLHL12, SLC25A10, SYNE1, DHX36, FBL, SDCBP, AKAP8, CPSF7, LGALS7, MYLPF, PHF5A, DHX30, PDS5A, ANKFY1, CPSF2, DYNLT3, TRIM25, HNRNPAB, KHDRBS1, KLC1, LRPPRC, MAGOH, NOP2, FAM208A, H2AFY, YBX3, KAT7, HYOU1, P4HB, CSNK2B, DEC1, CRY2, CHD4, NCOA1, RIN3, CDKN2C, GEMIN7, FAT1, MKI67, SEPT2, SNRPB2, SSR1, API5, NOP14, RBX1, HUWE1, EHMT2, OIP5, MKRN2, RPL36, ITSN2, MRPL2, CCDC93, FNBP1L, DNAAF5, CEP192, CDCA7L, WDR76, REEP4, DNAJC21, CENPV, C17orf96, TRIM37, PRDM14, DDB2, KAT2B, PCGF1, MDM2, ZBTB16, HNF4A, DANCR, LATS2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NF1_EZH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NF1_EZH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF1C0027831Neurofibromatosis 134CTD_human;ORPHANET;UNIPROT
HgeneNF1C2931482Neurofibromatosis-Noonan syndrome5CTD_human;ORPHANET;UNIPROT
HgeneNF1C0349639Juvenile Myelomonocytic Leukemia3CTD_human;HPO;ORPHANET
HgeneNF1C0004114Astrocytoma2CTD_human;HPO
HgeneNF1C0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneNF1C0025202melanoma2CTD_human
HgeneNF1C0206727Nerve Sheath Tumors2CTD_human
HgeneNF1C0001430Adenoma1CTD_human
HgeneNF1C0004352Autistic Disorder1CTD_human
HgeneNF1C0016057Fibrosarcoma1CTD_human
HgeneNF1C0017636Glioblastoma1CTD_human
HgeneNF1C0017638Glioma1CTD_human
HgeneNF1C0023186Learning Disorders1CTD_human
HgeneNF1C0023827liposarcoma1CTD_human
HgeneNF1C0027809Neurilemmoma1CTD_human
HgeneNF1C0027830neurofibroma1CTD_human
HgeneNF1C0027962Melanocytic nevus1CTD_human
HgeneNF1C0031511Pheochromocytoma1CTD_human
HgeneNF1C0162678Neurofibromatoses1CTD_human;HPO
HgeneNF1C1261473Sarcoma1CTD_human
HgeneNF1C1834235NEUROFIBROMATOSIS, FAMILIAL SPINAL1CTD_human;UNIPROT
HgeneNF1C3714756Intellectual Disability1CTD_human;HPO
TgeneEZH2C0033578Prostatic Neoplasms3CTD_human
TgeneEZH2C0001815Primary Myelofibrosis1CTD_human
TgeneEZH2C0010278Craniosynostosis1CTD_human
TgeneEZH2C0014170Endometrial Neoplasms1CTD_human
TgeneEZH2C0024301Lymphoma, Follicular1CTD_human
TgeneEZH2C0029463Osteosarcoma1CTD_human
TgeneEZH2C0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneEZH2C0265210Weaver syndrome1ORPHANET;UNIPROT
TgeneEZH2C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneEZH2C0749794Upper Extremity Deformities, Congenital1CTD_human
TgeneEZH2C1301355Myelodysplastic-Myeloproliferative Diseases1CTD_human
TgeneEZH2C1458155Mammary Neoplasms1CTD_human
TgeneEZH2C1860789Leukemia, Megakaryoblastic, of Down Syndrome1CTD_human
TgeneEZH2C3463824MYELODYSPLASTIC SYNDROME1CTD_human