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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: 24095

FusionGeneSummary for NF1_IKZF3

check button Fusion gene summary
Fusion gene informationFusion gene name: NF1_IKZF3
Fusion gene ID: 24095
HgeneTgene
Gene symbol

NF1

IKZF3

Gene ID

4763

22806

Gene nameneurofibromin 1IKAROS family zinc finger 3
SynonymsNFNS|VRNF|WSSAIO|AIOLOS|ZNFN1A3
Cytomap

17q11.2

17q12-q21.1

Type of geneprotein-codingprotein-coding
Descriptionneurofibrominneurofibromatosis 1neurofibromatosis-related protein NF-1truncated neurofibromin 1zinc finger protein Aioloszinc finger DNA binding protein Aioloszinc finger protein, subfamily 1A, 3 (Aiolos)
Modification date2018052720180523
UniProtAcc

P21359

Q9UKT9

Ensembl transtripts involved in fusion geneENST00000356175, ENST00000358273, 
ENST00000431387, ENST00000581113, 
ENST00000417592, ENST00000444181, 
ENST00000346872, ENST00000394189, 
ENST00000439167, ENST00000535189, 
ENST00000377944, ENST00000377945, 
ENST00000377952, ENST00000377958, 
ENST00000346243, ENST00000350532, 
ENST00000351680, ENST00000467757, 
ENST00000439016, ENST00000583368, 
Fusion gene scores* DoF score35 X 18 X 19=1197027 X 9 X 12=2916
# samples 4634
** MAII scorelog2(46/11970*10)=-4.70164548088649
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(34/2916*10)=-3.10038406818924
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NF1 [Title/Abstract] AND IKZF3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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 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
TCGARVPAADTCGA-3A-A9J0-01ANF1chr17

29563039

+IKZF3chr17

37988404

-
* 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
Frame-shiftENST00000356175ENST00000346872NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000394189NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000439167NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000535189NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000377944NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000377945NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000377952NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000377958NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000346243NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000350532NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000351680NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000467757NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000356175ENST00000439016NF1chr17

29563039

+IKZF3chr17

37988404

-
5CDS-intronENST00000356175ENST00000583368NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000346872NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000394189NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000439167NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000535189NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000377944NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000377945NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000377952NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000377958NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000346243NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000350532NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000351680NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000467757NF1chr17

29563039

+IKZF3chr17

37988404

-
Frame-shiftENST00000358273ENST00000439016NF1chr17

29563039

+IKZF3chr17

37988404

-
5CDS-intronENST00000358273ENST00000583368NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000346872NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000394189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000439167NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000535189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000377944NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000377945NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000377952NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000377958NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000346243NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000350532NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000351680NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000467757NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000431387ENST00000439016NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-intronENST00000431387ENST00000583368NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000346872NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000394189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000439167NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000535189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000377944NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000377945NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000377952NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000377958NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000346243NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000350532NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000351680NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000467757NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000581113ENST00000439016NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-intronENST00000581113ENST00000583368NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000346872NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000394189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000439167NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000535189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000377944NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000377945NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000377952NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000377958NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000346243NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000350532NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000351680NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000467757NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000417592ENST00000439016NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-intronENST00000417592ENST00000583368NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000346872NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000394189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000439167NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000535189NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000377944NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000377945NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000377952NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000377958NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000346243NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000350532NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000351680NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000467757NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-3CDSENST00000444181ENST00000439016NF1chr17

29563039

+IKZF3chr17

37988404

-
intron-intronENST00000444181ENST00000583368NF1chr17

29563039

+IKZF3chr17

37988404

-

Top

FusionProtFeatures for NF1_IKZF3


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

P21359

IKZF3

Q9UKT9

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_IKZF3


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_IKZF3


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, NRASIKZF3UBE2I, SIN3A, SIN3B, HDAC2, HDAC4, HDAC5, HDAC7, CHD4, IKZF4, IKZF5, IKZF2, HRAS, BCL2L1, IKZF1, NOTCH1, FOXP3, CRBN, UBC, ARNT2, DGCR6, PRKAB2, AES, AQP1, RHOA, CDKN1A, CDKN2D, GEM, GRB2, HNRNPF, KRT19, LMO1, LMO2, PFDN5, PIK3R2, PIN1, PRKAA1, PSMA1, RAD51D, STK16, STX11, POLR1C, EMC2, FAM115A, AKAP9, BCAS2, KAT5, MRPL28, FARS2, NEK6, IKZF3, ABLIM3, PPP1R16B, POLM, OSGIN1, CHCHD2, SPG21, OAZ3, C1orf109, MAGOHB, FANCL, TBC1D22B, RCOR3, PCID2, CABP5, LGALS14, EXOSC5, STAMBPL1, TRAPPC6A, ARMC7, TSSK3, ING5, ZGPAT, FBF1, ATPAF2, EFHC1, MRPL53, EXOC8, TEKT4, TSTD2, NATD1, MORN3, TRIM42, ARMC8, SETMAR, DGCR14, GID4, MAD1L1, LDOC1, STK26, SUMO1, PRDM1, CUL4A, GATAD2B, TRIM25, SMARCB1


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


Top

RelatedDrugs for NF1_IKZF3


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_IKZF3


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
TgeneIKZF3C0003873Rheumatoid Arthritis1CTD_human
TgeneIKZF3C0004096Asthma1CTD_human
TgeneIKZF3C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human