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Fusion gene ID: 24121 |
FusionGeneSummary for NF2_HSD3B2 |
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Fusion gene information | Fusion gene name: NF2_HSD3B2 | Fusion gene ID: 24121 | Hgene | Tgene | Gene symbol | NF2 | HSD3B2 | Gene ID | 4771 | 3284 |
Gene name | neurofibromin 2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | |
Synonyms | ACN|BANF|SCH | HSD3B|HSDB|SDR11E2 | |
Cytomap | 22q12.2 | 1p12 | |
Type of gene | protein-coding | protein-coding | |
Description | merlinmoesin-ezrin-radixin likemoesin-ezrin-radixin-like proteinmoesin-ezrin-radizin-like proteinneurofibromin 2 (bilateral acoustic neuroma)schwannomerlinschwannomin | 3 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 date | 20180519 | 20180523 | |
UniProtAcc | P35240 | P26439 | |
Ensembl transtripts involved in fusion gene | ENST00000347330, ENST00000413209, ENST00000338641, ENST00000403435, ENST00000361452, ENST00000403999, ENST00000334961, ENST00000353887, ENST00000361166, ENST00000397789, ENST00000361676, | ENST00000543831, ENST00000369416, ENST00000471656, | |
Fusion gene scores | * DoF score | 12 X 7 X 7=588 | 2 X 1 X 1=2 |
# samples | 13 | 2 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NF2 | GO:0008285 | negative regulation of cell proliferation | 12444102|20178741 |
Hgene | NF2 | GO:0022408 | negative regulation of cell-cell adhesion | 17210637 |
Hgene | NF2 | GO:0042532 | negative regulation of tyrosine phosphorylation of STAT protein | 12444102 |
Hgene | NF2 | GO:0046426 | negative regulation of JAK-STAT cascade | 12444102 |
Tgene | HSD3B2 | GO:0006694 | steroid biosynthetic process | 1944309 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-GI-A2C9-01A | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000347330 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000347330 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000347330 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000413209 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000413209 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000413209 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000338641 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000338641 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000338641 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000403435 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000403435 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000403435 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000361452 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000361452 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000361452 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000403999 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000403999 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000403999 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000334961 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000334961 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000334961 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000353887 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000353887 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000353887 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000361166 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000361166 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000361166 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000397789 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000397789 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000397789 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000361676 | ENST00000543831 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-5UTR | ENST00000361676 | ENST00000369416 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
5CDS-3UTR | ENST00000361676 | ENST00000471656 | NF2 | chr22 | 30000101 | + | HSD3B2 | chr1 | 119957954 | + |
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FusionProtFeatures for NF2_HSD3B2 |
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Hgene | Tgene |
NF2 | HSD3B2 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NF2_HSD3B2 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NF2 | SGSM3, 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 | HSD3B2 | ATP4A, KRAS, HSD3B1, TMEM38A, MTHFR, TOP2B, HIST2H3PS2, TOP2A, CTSF, WBP11, PC, H2AFY, LETM1, NARS, HIST1H2AG, DDX46, VRK1, TCEA1, TBL3, WDR36 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NF2_HSD3B2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | HSD3B2 | P26439 | DB01108 | Trilostane | 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 | small molecule | approved|investigational|vet_approved|withdrawn |
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RelatedDiseases for NF2_HSD3B2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NF2 | C0027832 | Neurofibromatosis 2 | 9 | CTD_human;ORPHANET;UNIPROT |
Hgene | NF2 | C0025500 | Mesothelioma | 6 | CTD_human |
Hgene | NF2 | C0345967 | Malignant mesothelioma | 4 | CTD_human |
Hgene | NF2 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | NF2 | C0025286 | Meningioma | 1 | CTD_human;HPO |
Hgene | NF2 | C0032229 | Pleural Neoplasms | 1 | CTD_human |
Tgene | HSD3B2 | C0342471 | 3 beta-Hydroxysteroid dehydrogenase deficiency | 7 | CTD_human;ORPHANET;UNIPROT |
Tgene | HSD3B2 | C0001627 | Congenital adrenal hyperplasia | 1 | CTD_human;HPO |
Tgene | HSD3B2 | C0010417 | Cryptorchidism | 1 | CTD_human;HPO |
Tgene | HSD3B2 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | HSD3B2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | HSD3B2 | C0848558 | Hypospadias | 1 | CTD_human |
Tgene | HSD3B2 | C1456784 | Paranoia | 1 | CTD_human |
Tgene | HSD3B2 | C2239176 | Liver carcinoma | 1 | CTD_human |