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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: 24127

FusionGeneSummary for NF2_ZMAT5

check button Fusion gene summary
Fusion gene informationFusion gene name: NF2_ZMAT5
Fusion gene ID: 24127
HgeneTgene
Gene symbol

NF2

ZMAT5

Gene ID

4771

55954

Gene nameneurofibromin 2zinc finger matrin-type 5
SynonymsACN|BANF|SCHSNRNP20|U11/U12-20K|ZC3H19
Cytomap

22q12.2

22q12.2

Type of geneprotein-codingprotein-coding
Descriptionmerlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannominzinc finger matrin-type protein 5U11/U12 small nuclear ribonucleoprotein 20 kDa proteinU11/U12 snRNP 20 kDa proteinU11/U12 snRNP 20Kzinc finger CCCH-type containing 19
Modification date2018051920180523
UniProtAcc

P35240

Q9UDW3

Ensembl transtripts involved in fusion geneENST00000347330, ENST00000413209, 
ENST00000338641, ENST00000403435, 
ENST00000361452, ENST00000403999, 
ENST00000334961, ENST00000353887, 
ENST00000361166, ENST00000397789, 
ENST00000361676, 
ENST00000344318, 
ENST00000397781, 
Fusion gene scores* DoF score12 X 7 X 7=5883 X 2 X 3=18
# samples 133
** MAII scorelog2(13/588*10)=-2.17730453180791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NF2 [Title/Abstract] AND ZMAT5 [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
HgeneNF2

GO:0008285

negative regulation of cell proliferation

12444102|20178741

HgeneNF2

GO:0022408

negative regulation of cell-cell adhesion

17210637

HgeneNF2

GO:0042532

negative regulation of tyrosine phosphorylation of STAT protein

12444102

HgeneNF2

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
TCGALDPAADTCGA-3A-A9IH-01ANF2chr22

30074312

+ZMAT5chr22

30138469

-
* 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
3UTR-3CDSENST00000347330ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
3UTR-3CDSENST00000347330ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
intron-3CDSENST00000413209ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
intron-3CDSENST00000413209ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000338641ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000338641ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000403435ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000403435ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000361452ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000361452ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000403999ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000403999ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000334961ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000334961ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000353887ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000353887ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000361166ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000361166ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000397789ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000397789ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000361676ENST00000344318NF2chr22

30074312

+ZMAT5chr22

30138469

-
Frame-shitENST00000361676ENST00000397781NF2chr22

30074312

+ZMAT5chr22

30138469

-

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FusionProtFeatures for NF2_ZMAT5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NF2

P35240

ZMAT5

Q9UDW3


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 NF2_ZMAT5


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 NF2_ZMAT5


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
NF2SGSM3, 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, UBE2AZMAT5RNU11, WWOX, ZRSR2, RNU12, SNRPN, DENND4B, SNRPF, ZCRB1, PDCD7, RNPC3, SNRPG, SNRNP48, ACTA2, PSMG4, PSMG3, ACTBL2, CTU2, SNRPE, PSME3, GSTT1


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 NF2_ZMAT5


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 NF2_ZMAT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNF2C0027832Neurofibromatosis 29CTD_human;ORPHANET;UNIPROT
HgeneNF2C0025500Mesothelioma6CTD_human
HgeneNF2C0345967Malignant mesothelioma4CTD_human
HgeneNF2C0007134Renal Cell Carcinoma1CTD_human
HgeneNF2C0025286Meningioma1CTD_human;HPO
HgeneNF2C0032229Pleural Neoplasms1CTD_human