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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: 35933

FusionGeneSummary for SRD5A3_SRD5A3

check button Fusion gene summary
Fusion gene informationFusion gene name: SRD5A3_SRD5A3
Fusion gene ID: 35933
HgeneTgene
Gene symbol

SRD5A3

SRD5A3

Gene ID

79644

79644

Gene namesteroid 5 alpha-reductase 3steroid 5 alpha-reductase 3
SynonymsCDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1CDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1
Cytomap

4q12

4q12

Type of geneprotein-codingprotein-coding
Descriptionpolyprenol reductase3-oxo-5-alpha-steroid 4-dehydrogenase 3S5AR 3SR type 3probable polyprenol reductasepolyprenol reductase3-oxo-5-alpha-steroid 4-dehydrogenase 3S5AR 3SR type 3probable polyprenol reductase
Modification date2018052320180523
UniProtAcc

Q9H8P0

Q9H8P0

Ensembl transtripts involved in fusion geneENST00000264228, ENST00000514398, 
ENST00000264228, ENST00000514398, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSRD5A3

GO:0016095

polyprenol catabolic process

20637498

HgeneSRD5A3

GO:0019348

dolichol metabolic process

20637498

TgeneSRD5A3

GO:0016095

polyprenol catabolic process

20637498

TgeneSRD5A3

GO:0019348

dolichol metabolic process

20637498


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
ChiTaRS3.1AI906091SRD5A3chr4

56225564

-SRD5A3chr4

56230397

-
* 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
In-frameENST00000264228ENST00000264228SRD5A3chr4

56225564

-SRD5A3chr4

56230397

-
5CDS-3UTRENST00000264228ENST00000514398SRD5A3chr4

56225564

-SRD5A3chr4

56230397

-
3UTR-3CDSENST00000514398ENST00000264228SRD5A3chr4

56225564

-SRD5A3chr4

56230397

-
3UTR-3UTRENST00000514398ENST00000514398SRD5A3chr4

56225564

-SRD5A3chr4

56230397

-

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FusionProtFeatures for SRD5A3_SRD5A3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SRD5A3

Q9H8P0

SRD5A3

Q9H8P0

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}.

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
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05102_117-76319Topological domainCytoplasmic
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05139_157-76319Topological domainLumenal
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05179_194-76319Topological domainCytoplasmic
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+051_11-76319Topological domainCytoplasmic
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05216_260-76319Topological domainLumenal
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05282_318-76319Topological domainCytoplasmic
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+0535_80-76319Topological domainLumenal
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05118_138-76319TransmembraneHelical
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+0512_34-76319TransmembraneHelical
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05158_178-76319TransmembraneHelical
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05195_215-76319TransmembraneHelical
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+05261_281-76319TransmembraneHelical
TgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+0581_101-76319TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15102_117-76319Topological domainCytoplasmic
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15139_157-76319Topological domainLumenal
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15179_194-76319Topological domainCytoplasmic
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+151_11-76319Topological domainCytoplasmic
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15216_260-76319Topological domainLumenal
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15282_318-76319Topological domainCytoplasmic
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+1535_80-76319Topological domainLumenal
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15118_138-76319TransmembraneHelical
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+1512_34-76319TransmembraneHelical
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15158_178-76319TransmembraneHelical
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15195_215-76319TransmembraneHelical
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+15261_281-76319TransmembraneHelical
HgeneSRD5A3chr4:56225564chr4:56230397ENST00000264228+1581_101-76319TransmembraneHelical


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FusionGeneSequence for SRD5A3_SRD5A3


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 SRD5A3_SRD5A3


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
SRD5A3ADK, NUDT15SRD5A3ADK, NUDT15


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 SRD5A3_SRD5A3


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 SRD5A3_SRD5A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSRD5A3C0022336Creutzfeldt-Jakob disease1CTD_human
HgeneSRD5A3C3714756Intellectual Disability1CTD_human
TgeneSRD5A3C0022336Creutzfeldt-Jakob disease1CTD_human
TgeneSRD5A3C3714756Intellectual Disability1CTD_human