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Fusion gene ID: 35933 |
FusionGeneSummary for SRD5A3_SRD5A3 |
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Fusion gene information | Fusion gene name: SRD5A3_SRD5A3 | Fusion gene ID: 35933 | Hgene | Tgene | Gene symbol | SRD5A3 | SRD5A3 | Gene ID | 79644 | 79644 |
Gene name | steroid 5 alpha-reductase 3 | steroid 5 alpha-reductase 3 | |
Synonyms | CDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1 | CDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1 | |
Cytomap | 4q12 | 4q12 | |
Type of gene | protein-coding | protein-coding | |
Description | polyprenol reductase3-oxo-5-alpha-steroid 4-dehydrogenase 3S5AR 3SR type 3probable polyprenol reductase | polyprenol reductase3-oxo-5-alpha-steroid 4-dehydrogenase 3S5AR 3SR type 3probable polyprenol reductase | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9H8P0 | Q9H8P0 | |
Ensembl transtripts involved in fusion gene | ENST00000264228, ENST00000514398, | ENST00000264228, ENST00000514398, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 2 X 3=18 |
# samples | 1 | 3 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SRD5A3 [Title/Abstract] AND SRD5A3 [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 | SRD5A3 | GO:0016095 | polyprenol catabolic process | 20637498 |
Hgene | SRD5A3 | GO:0019348 | dolichol metabolic process | 20637498 |
Tgene | SRD5A3 | GO:0016095 | polyprenol catabolic process | 20637498 |
Tgene | SRD5A3 | GO:0019348 | dolichol metabolic process | 20637498 |
![]() (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 |
ChiTaRS3.1 | AI906091 | SRD5A3 | chr4 | 56225564 | - | SRD5A3 | chr4 | 56230397 | - |
* 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 |
In-frame | ENST00000264228 | ENST00000264228 | SRD5A3 | chr4 | 56225564 | - | SRD5A3 | chr4 | 56230397 | - |
5CDS-3UTR | ENST00000264228 | ENST00000514398 | SRD5A3 | chr4 | 56225564 | - | SRD5A3 | chr4 | 56230397 | - |
3UTR-3CDS | ENST00000514398 | ENST00000264228 | SRD5A3 | chr4 | 56225564 | - | SRD5A3 | chr4 | 56230397 | - |
3UTR-3UTR | ENST00000514398 | ENST00000514398 | SRD5A3 | chr4 | 56225564 | - | SRD5A3 | chr4 | 56230397 | - |
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FusionProtFeatures for SRD5A3_SRD5A3 |
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Hgene | Tgene |
SRD5A3 | SRD5A3 |
Plays a key role in early steps of protein N-linkedglycosylation by being required for the conversion of polyprenolinto dolichol. Dolichols are required for the synthesis ofdolichol-linked monosaccharides and the oligosaccharide precursorused for N-glycosylation. Acts as a polyprenol reductase thatpromotes the reduction of the alpha-isoprene unit of polyprenolsinto dolichols in a NADP-dependent mechanism. Also able to converttestosterone (T) into 5-alpha-dihydrotestosterone (DHT).{ECO:0000269|PubMed:17986282, ECO:0000269|PubMed:20637498}. | Plays a key role in early steps of protein N-linkedglycosylation by being required for the conversion of polyprenolinto dolichol. Dolichols are required for the synthesis ofdolichol-linked monosaccharides and the oligosaccharide precursorused for N-glycosylation. Acts as a polyprenol reductase thatpromotes the reduction of the alpha-isoprene unit of polyprenolsinto dolichols in a NADP-dependent mechanism. Also able to converttestosterone (T) into 5-alpha-dihydrotestosterone (DHT).{ECO:0000269|PubMed:17986282, ECO:0000269|PubMed:20637498}. |
![]() * 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 |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 102_117 | -76 | 319 | Topological domain | Cytoplasmic |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 139_157 | -76 | 319 | Topological domain | Lumenal |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 179_194 | -76 | 319 | Topological domain | Cytoplasmic |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 1_11 | -76 | 319 | Topological domain | Cytoplasmic |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 216_260 | -76 | 319 | Topological domain | Lumenal |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 282_318 | -76 | 319 | Topological domain | Cytoplasmic |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 35_80 | -76 | 319 | Topological domain | Lumenal |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 118_138 | -76 | 319 | Transmembrane | Helical |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 12_34 | -76 | 319 | Transmembrane | Helical |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 158_178 | -76 | 319 | Transmembrane | Helical |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 195_215 | -76 | 319 | Transmembrane | Helical |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 261_281 | -76 | 319 | Transmembrane | Helical |
Tgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 0 | 5 | 81_101 | -76 | 319 | Transmembrane | Helical |
- 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 |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 102_117 | -76 | 319 | Topological domain | Cytoplasmic |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 139_157 | -76 | 319 | Topological domain | Lumenal |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 179_194 | -76 | 319 | Topological domain | Cytoplasmic |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 1_11 | -76 | 319 | Topological domain | Cytoplasmic |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 216_260 | -76 | 319 | Topological domain | Lumenal |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 282_318 | -76 | 319 | Topological domain | Cytoplasmic |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 35_80 | -76 | 319 | Topological domain | Lumenal |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 118_138 | -76 | 319 | Transmembrane | Helical |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 12_34 | -76 | 319 | Transmembrane | Helical |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 158_178 | -76 | 319 | Transmembrane | Helical |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 195_215 | -76 | 319 | Transmembrane | Helical |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 261_281 | -76 | 319 | Transmembrane | Helical |
Hgene | >SRD5A3 | chr4:56225564 | chr4:56230397 | ENST00000264228 | + | 1 | 5 | 81_101 | -76 | 319 | Transmembrane | Helical |
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FusionGeneSequence for SRD5A3_SRD5A3 |
![]() (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 SRD5A3_SRD5A3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SRD5A3 | ADK, NUDT15 | SRD5A3 | ADK, NUDT15 |
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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 SRD5A3_SRD5A3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SRD5A3_SRD5A3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SRD5A3 | C0022336 | Creutzfeldt-Jakob disease | 1 | CTD_human |
Hgene | SRD5A3 | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | SRD5A3 | C0022336 | Creutzfeldt-Jakob disease | 1 | CTD_human |
Tgene | SRD5A3 | C3714756 | Intellectual Disability | 1 | CTD_human |