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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: 43823

FusionGeneSummary for ZNRF3_NF2

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNRF3_NF2
Fusion gene ID: 43823
HgeneTgene
Gene symbol

ZNRF3

NF2

Gene ID

84133

4771

Gene namezinc and ring finger 3neurofibromin 2
SynonymsBK747E2.3|RNF203ACN|BANF|SCH
Cytomap

22q12.1

22q12.2

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase ZNRF3CTA-292E10.6RING finger protein 203RING-type E3 ubiquitin transferase ZNRF3novel C3HC4 type Zinc finger (ring finger)zinc/RING finger protein 3merlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin
Modification date2018052320180519
UniProtAcc

Q9ULT6

P35240

Ensembl transtripts involved in fusion geneENST00000544604, ENST00000332811, 
ENST00000402174, ENST00000406323, 
ENST00000347330, ENST00000413209, 
ENST00000338641, ENST00000403435, 
ENST00000361452, ENST00000403999, 
ENST00000334961, ENST00000353887, 
ENST00000361166, ENST00000397789, 
ENST00000361676, 
Fusion gene scores* DoF score14 X 4 X 12=6727 X 5 X 6=210
# samples 177
** MAII scorelog2(17/672*10)=-1.98292648664106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNRF3 [Title/Abstract] AND NF2 [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
HgeneZNRF3

GO:0016567

protein ubiquitination

22575959

TgeneNF2

GO:0008285

negative regulation of cell proliferation

12444102|20178741

TgeneNF2

GO:0022408

negative regulation of cell-cell adhesion

17210637

TgeneNF2

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

12444102

TgeneNF2

GO:0046426

negative regulation of JAK-STAT cascade

12444102


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
TCGALDLUSCTCGA-34-A5IX-01AZNRF3chr22

29383189

+NF2chr22

30032740

+
* 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-intronENST00000544604ENST00000347330ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000413209ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000338641ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000403435ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000361452ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000403999ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000334961ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000353887ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000361166ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000397789ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000544604ENST00000361676ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000347330ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000413209ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000338641ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000403435ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000361452ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000403999ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000334961ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000353887ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000361166ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000397789ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000332811ENST00000361676ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000347330ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000413209ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000338641ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000403435ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000361452ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000403999ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000334961ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000353887ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000361166ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000397789ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000402174ENST00000361676ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000347330ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000413209ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000338641ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000403435ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000361452ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000403999ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000334961ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000353887ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000361166ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000397789ZNRF3chr22

29383189

+NF2chr22

30032740

+
5CDS-intronENST00000406323ENST00000361676ZNRF3chr22

29383189

+NF2chr22

30032740

+

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FusionProtFeatures for ZNRF3_NF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNRF3

Q9ULT6

NF2

P35240

E3 ubiquitin-protein ligase that acts as a negativeregulator of the Wnt signaling pathway by mediating theubiquitination and subsequent degradation of Wnt receptor complexcomponents Frizzled and LRP6. Acts on both canonical and non-canonical Wnt signaling pathway. Acts as a tumor suppressor in theintestinal stem cell zone by inhibiting the Wnt signaling pathway,thereby resticting the size of the intestinal stem cell zone.{ECO:0000269|PubMed:22575959}.

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 ZNRF3_NF2


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 ZNRF3_NF2


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
ZNRF3UBE2N, FZD4, RSPO1, LGR4, LRP6, GFI1B, DVL2, HSPB1, RSPO2, RSPO3, LGR5, FZD7NF2SGSM3, MED28, HGS, EZR, NF2, SOS1, PXN, SLC9A3R1, SPTBN1, SDCBP, SCHIP1, VPRBP, DDB1, CUL4A, RIT1, AKT1, AGAP2, CD44, AMOT, PYGO2, WWC1, GPS1, CCNB1IP1, PPP1R8, AMOTL2, YAP1, KDM1A, MOV10, NXF1, RNF166, CCNL2, LATS1, LATS2, AMOTL1, DNAJA1, DNAJA2, DYNLL1, HSPH1, HSPA4, TUBA1C, DBN1, SLC33A1, KSR1, SRRM2, LIG3, TFCP2, TMPO, CLCC1, UBA3, EMD, LEMD2, CHMP4B, LIN7C, TRIM21, IST1, RPA1, ZBTB10, EPDR1, PDCD6IP, PRPF38B, XRCC1, PNKP, RPA2, PGAM5, MVP, SP1, TBP, PRKAG2, DBT, CPNE3, PARP1, PANX1, SLC25A6, WBP2, CHMP1A, OR4X1, GPD2, LPCAT1, PYCR2, CD2AP, ATP6V1H, LUC7L3, TUBB4A, GRPEL1, XRCC4, CBR4, HSPA9, TSG101, SRPR, RBBP4, NIT1, TBL2, EIF3M, DLAT, XRCC5, PEF1, CDK1, TSN, IRS4, TAF15, RPL18A, ERLIN2, XRCC6, RFC1, DNPEP, KPNA2, RPS5, SLC25A1, SLC25A5, MPP2, AFG3L2, MPP6, S100A8, TGM3, GRN, MTTP, GTPBP1, PABPC4, MTPAP, RPL15, SERBP1, RPL13, CALML5, RPL14, PDHX, RPL13A, TOP1, PRPF19, MC1R, DHX30, SLC25A12, SMAD3, RPL18, SLC25A11, AKAP8L, SSRP1, VTA1, RPS3, PREB, SERPINB3, PIP4K2C, FARSA, EIF2S3, RPS7, CPSF6, ATAD3A, ATAD3B, LSM12, GRSF1, SLC25A13, HDAC1, RPS2, SLC25A22, CDK5, RPL8, PDCD6, SH3GL1, RFC3, CBS, GMDS, SARS2, DSC1, SEC23B, SMC3, HSD17B4, G3BP2, DECR1, RPL10, DHX15, SUPT16H, SMC1A, EIF3J, C1orf35, RARS, TPR, SF3B4, RCC2, RPS3A, PHB, IGF2BP1, DARS, RPL3, PRDX1, SFXN2, SLC25A3, RPL4, CAPRIN1, RPS4X, CKAP5, S100A9, LANCL2, IKBIP, PRKCA, GLTSCR2, CDH1, EGFR, CTDSPL, PTPRA, PTPRG, PPFIA1, TSPYL4, PDCL, CYLD, UBE2A


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 ZNRF3_NF2


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 ZNRF3_NF2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneZNRF3C0030297Pancreatic Neoplasm2CTD_human
HgeneZNRF3C0206686Adrenocortical carcinoma1CTD_human
TgeneNF2C0027832Neurofibromatosis 29CTD_human;ORPHANET;UNIPROT
TgeneNF2C0025500Mesothelioma6CTD_human
TgeneNF2C0345967Malignant mesothelioma4CTD_human
TgeneNF2C0007134Renal Cell Carcinoma1CTD_human
TgeneNF2C0025286Meningioma1CTD_human;HPO
TgeneNF2C0032229Pleural Neoplasms1CTD_human