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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: 18746

FusionGeneSummary for KIAA1671_NF2

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1671_NF2
Fusion gene ID: 18746
HgeneTgene
Gene symbol

KIAA1671

NF2

Gene ID

85379

4771

Gene nameKIAA1671neurofibromin 2
Synonyms-ACN|BANF|SCH
Cytomap

22q11.23

22q12.2

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein KIAA1671CTA-221G9.5merlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin
Modification date2018051920180519
UniProtAcc

Q9BY89

P35240

Ensembl transtripts involved in fusion geneENST00000406486, ENST00000358431, 
ENST00000401395, 
ENST00000347330, 
ENST00000413209, ENST00000338641, 
ENST00000403435, ENST00000361452, 
ENST00000403999, ENST00000334961, 
ENST00000353887, ENST00000361166, 
ENST00000397789, ENST00000361676, 
Fusion gene scores* DoF score14 X 8 X 9=10087 X 5 X 6=210
# samples 127
** MAII scorelog2(12/1008*10)=-3.0703893278914
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: KIAA1671 [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
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
TCGALDCHOLTCGA-W5-AA39-01AKIAA1671chr22

25508429

+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
intron-intronENST00000406486ENST00000347330KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000413209KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000338641KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000403435KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000361452KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000403999KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000334961KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000353887KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000361166KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000397789KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000406486ENST00000361676KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000347330KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000413209KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000338641KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000403435KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000361452KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000403999KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000334961KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000353887KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000361166KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000397789KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000358431ENST00000361676KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000347330KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000413209KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000338641KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000403435KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000361452KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000403999KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000334961KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000353887KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000361166KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000397789KIAA1671chr22

25508429

+NF2chr22

30032740

+
intron-intronENST00000401395ENST00000361676KIAA1671chr22

25508429

+NF2chr22

30032740

+

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FusionProtFeatures for KIAA1671_NF2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1671

Q9BY89

NF2

P35240


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 KIAA1671_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 KIAA1671_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
KIAA1671LATS2, STRN3, TJP2, YWHAB, CCDC8, LUZP4, WDR83, CAPZA2, SDF4, NEU2, PLK4, CEP192, CCDC67, CENPJ, SSX2IP, OFD1, CEP104, CEP162, CEP120, CEP152, CNTROB, CEP128, CEP135, CEP63, CEP89, CNTRL, NINL, NIN, ODF2, RPGRIP1L, POC5, DYNLT1, SASS6, RPGRIP1, PPP1CB, FBXL17, CDH1, SSH1, P4HA2, IL17RA, C6orf141, ASB3, PM20D2, NCAPH2, SKP2, F9, DCAF7, KIAA0430, HELZ, NISCH, SOWAHA, PAN2, EIF4ENIF1, PCGF5NF2SGSM3, 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 KIAA1671_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 KIAA1671_NF2


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