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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: 24121

FusionGeneSummary for NF2_HSD3B2

check button Fusion gene summary
Fusion gene informationFusion gene name: NF2_HSD3B2
Fusion gene ID: 24121
HgeneTgene
Gene symbol

NF2

HSD3B2

Gene ID

4771

3284

Gene nameneurofibromin 2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
SynonymsACN|BANF|SCHHSD3B|HSDB|SDR11E2
Cytomap

22q12.2

1p12

Type of geneprotein-codingprotein-coding
Descriptionmerlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 23 beta-HSD type II3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II3-beta
Modification date2018051920180523
UniProtAcc

P35240

P26439

Ensembl transtripts involved in fusion geneENST00000347330, ENST00000413209, 
ENST00000338641, ENST00000403435, 
ENST00000361452, ENST00000403999, 
ENST00000334961, ENST00000353887, 
ENST00000361166, ENST00000397789, 
ENST00000361676, 
ENST00000543831, 
ENST00000369416, ENST00000471656, 
Fusion gene scores* DoF score12 X 7 X 7=5882 X 1 X 1=2
# samples 132
** MAII scorelog2(13/588*10)=-2.17730453180791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/2*10)=3.32192809488736
Context

PubMed: NF2 [Title/Abstract] AND HSD3B2 [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

TgeneHSD3B2

GO:0006694

steroid biosynthetic process

1944309


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
TCGALDBRCATCGA-GI-A2C9-01ANF2chr22

30000101

+HSD3B2chr1

119957954

+
* 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-5UTRENST00000347330ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000347330ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000347330ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000413209ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000413209ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000413209ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000338641ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000338641ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000338641ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000403435ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000403435ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000403435ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000361452ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000361452ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000361452ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000403999ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000403999ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000403999ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000334961ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000334961ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000334961ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000353887ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000353887ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000353887ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000361166ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000361166ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000361166ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000397789ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000397789ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000397789ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000361676ENST00000543831NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-5UTRENST00000361676ENST00000369416NF2chr22

30000101

+HSD3B2chr1

119957954

+
5CDS-3UTRENST00000361676ENST00000471656NF2chr22

30000101

+HSD3B2chr1

119957954

+

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FusionProtFeatures for NF2_HSD3B2


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

P35240

HSD3B2

P26439

3-beta-HSD is a bifunctional enzyme, that catalyzes theoxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, andthe oxidative conversion of ketosteroids. The 3-beta-HSD enzymaticsystem plays a crucial role in the biosynthesis of all classes ofhormonal steroids.

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_HSD3B2


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_HSD3B2


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, UBE2AHSD3B2ATP4A, KRAS, HSD3B1, TMEM38A, MTHFR, TOP2B, HIST2H3PS2, TOP2A, CTSF, WBP11, PC, H2AFY, LETM1, NARS, HIST1H2AG, DDX46, VRK1, TCEA1, TBL3, WDR36


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_HSD3B2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHSD3B2P26439DB01108Trilostane3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2small moleculeapproved|investigational|vet_approved|withdrawn

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RelatedDiseases for NF2_HSD3B2


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
TgeneHSD3B2C03424713 beta-Hydroxysteroid dehydrogenase deficiency7CTD_human;ORPHANET;UNIPROT
TgeneHSD3B2C0001627Congenital adrenal hyperplasia1CTD_human;HPO
TgeneHSD3B2C0010417Cryptorchidism1CTD_human;HPO
TgeneHSD3B2C0032460Polycystic Ovary Syndrome1CTD_human
TgeneHSD3B2C0033578Prostatic Neoplasms1CTD_human
TgeneHSD3B2C0848558Hypospadias1CTD_human
TgeneHSD3B2C1456784Paranoia1CTD_human
TgeneHSD3B2C2239176Liver carcinoma1CTD_human