FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:RSU1-SRD5A1 (FusionGDB2 ID:78495)

Fusion Gene Summary for RSU1-SRD5A1

check button Fusion gene summary
Fusion gene informationFusion gene name: RSU1-SRD5A1
Fusion gene ID: 78495
HgeneTgene
Gene symbol

RSU1

SRD5A1

Gene ID

6251

6715

Gene nameRas suppressor protein 1steroid 5 alpha-reductase 1
SynonymsRSP-1S5AR 1
Cytomap

10p13

5p15.31

Type of geneprotein-codingprotein-coding
Descriptionras suppressor protein 1ras suppressor protein 1 variant 1ras suppressor protein 1 variant 2ras suppressor protein 1 variant 3ras suppressor protein 1 variant 5rsu-13-oxo-5-alpha-steroid 4-dehydrogenase 1SR type 1steroid 5-alpha-reductase type Isteroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000345264, ENST00000377921, 
ENST00000602389, ENST00000464074, 
ENST00000537411, ENST00000504286, 
ENST00000538824, ENST00000274192, 
Fusion gene scores* DoF score13 X 8 X 11=11443 X 3 X 3=27
# samples 144
** MAII scorelog2(14/1144*10)=-3.03058831983342
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RSU1 [Title/Abstract] AND SRD5A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRSU1(16737021)-SRD5A1(6668314), # samples:2
Anticipated loss of major functional domain due to fusion event.RSU1-SRD5A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
RSU1-SRD5A1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across RSU1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SRD5A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4ESCATCGA-R6-A6DNRSU1chr10

16737021

-SRD5A1chr5

6668314

+


Top

Fusion Gene ORF analysis for RSU1-SRD5A1

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-3UTRENST00000345264ENST00000537411RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-3UTRENST00000377921ENST00000537411RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-3UTRENST00000602389ENST00000537411RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-intronENST00000345264ENST00000504286RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-intronENST00000345264ENST00000538824RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-intronENST00000377921ENST00000504286RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-intronENST00000377921ENST00000538824RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-intronENST00000602389ENST00000504286RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5CDS-intronENST00000602389ENST00000538824RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5UTR-3CDSENST00000464074ENST00000274192RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5UTR-3UTRENST00000464074ENST00000537411RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5UTR-intronENST00000464074ENST00000504286RSU1chr10

16737021

-SRD5A1chr5

6668314

+
5UTR-intronENST00000464074ENST00000538824RSU1chr10

16737021

-SRD5A1chr5

6668314

+
Frame-shiftENST00000345264ENST00000274192RSU1chr10

16737021

-SRD5A1chr5

6668314

+
Frame-shiftENST00000602389ENST00000274192RSU1chr10

16737021

-SRD5A1chr5

6668314

+
In-frameENST00000377921ENST00000274192RSU1chr10

16737021

-SRD5A1chr5

6668314

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000377921RSU1chr1016737021-ENST00000274192SRD5A1chr56668314+239410331071033308

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000377921ENST00000274192RSU1chr1016737021-SRD5A1chr56668314+0.0057123690.99428767

Top

Fusion Genomic Features for RSU1-SRD5A1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
RSU1chr1016737021-SRD5A1chr56668314+3.60E-050.999964
RSU1chr1016737021-SRD5A1chr56668314+3.60E-050.999964

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for RSU1-SRD5A1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:16737021/chr5:6668314)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-89110_133243278.0RepeatNote=LRR 4
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-89135_156243278.0RepeatNote=LRR 5
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-89158_179243278.0RepeatNote=LRR 6
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-89181_202243278.0RepeatNote=LRR 7
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-8941_63243278.0RepeatNote=LRR 1
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-8964_85243278.0RepeatNote=LRR 2
HgeneRSU1chr10:16737021chr5:6668314ENST00000345264-8987_109243278.0RepeatNote=LRR 3
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-78110_133243278.0RepeatNote=LRR 4
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-78135_156243278.0RepeatNote=LRR 5
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-78158_179243278.0RepeatNote=LRR 6
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-78181_202243278.0RepeatNote=LRR 7
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-7841_63243278.0RepeatNote=LRR 1
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-7864_85243278.0RepeatNote=LRR 2
HgeneRSU1chr10:16737021chr5:6668314ENST00000377921-7887_109243278.0RepeatNote=LRR 3
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-78110_133190225.0RepeatNote=LRR 4
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-78135_156190225.0RepeatNote=LRR 5
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-78158_179190225.0RepeatNote=LRR 6
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-7841_63190225.0RepeatNote=LRR 1
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-7864_85190225.0RepeatNote=LRR 2
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-7887_109190225.0RepeatNote=LRR 3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRSU1chr10:16737021chr5:6668314ENST00000602389-78181_202190225.0RepeatNote=LRR 7
TgeneSRD5A1chr10:16737021chr5:6668314ENST0000027419235111_131237260.0TransmembraneHelical
TgeneSRD5A1chr10:16737021chr5:6668314ENST000002741923512_29237260.0TransmembraneHelical
TgeneSRD5A1chr10:16737021chr5:6668314ENST0000027419235151_171237260.0TransmembraneHelical
TgeneSRD5A1chr10:16737021chr5:6668314ENST0000027419235209_229237260.0TransmembraneHelical
TgeneSRD5A1chr10:16737021chr5:6668314ENST000002741923586_106237260.0TransmembraneHelical


Top

Fusion Gene Sequence for RSU1-SRD5A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>78495_78495_1_RSU1-SRD5A1_RSU1_chr10_16737021_ENST00000377921_SRD5A1_chr5_6668314_ENST00000274192_length(transcript)=2394nt_BP=1033nt
GGGCAGCTGGAGTGCGTTCTGCCGAAGCTTGTGGTTGCACGCCCATCGTCTTAGGGGCTACCTTCCGTGGTGAGTGTGTGCGGTGTTGCA
CTTGGGGTTGCTTCTCGCTGCGTGGCCGCAGCGGGGCTGAACCCTTCCCACTCCATCCCCTCCCCGCACCCGGACCAGCCCCTGGGACGC
CCTCGGACGCCCACCCGCTCCAACCCTGGGGAAGCCTCAGAGTGGCAGCGAAGGCCTCTTGCCTTTCCGCCTCTGCGCTTGCTGTCATCG
CCCACGTGCTTTGTTGTTGTTCGGTGCAGACCATGTCCAAGTCTCTGAAGAAGTTGGTGGAGGAGAGCCGGGAGAAGAACCAGCCCGAGG
TGGACATGAGTGACCGGGGCATCTCCAACATGCTGGATGTCAACGGCCTCTTTACCTTATCCCATATCACACAACTGGTCCTCAGCCATA
ACAAGCTAACAATGGTGCCACCGAACATCGCAGAACTGAAGAATTTGGAGGTGCTCAACTTTTTTAATAACCAAATCGAGGAGCTGCCCA
CACAGATCAGTAGCCTTCAGAAACTCAAACACCTGAACCTTGGCATGAACAGGCTGAACACTTTGCCACGAGGCTTCGGCTCCCTGCCAG
CTCTTGAGGTTCTGGACTTGACGTACAACAACTTGAGCGAAAATTCTCTTCCTGGAAACTTCTTCTACCTGACCACCCTGCGTGCACTCT
ATCTAAGTGACAACGATTTTGAAATCCTGCCGCCAGATATTGGGAAGCTCACAAAGTTGCAGATACTCAGCCTTAGGGATAACGACCTGA
TCTCGCTGCCTAAGGAAATCGGGGAGCTTACCCAGCTTAAAGAGCTCCACATTCAGGGGAACCGCCTCACCGTTCTGCCCCCAGAACTAG
GAAACTTGGATTTAACTGGCCAGAAGCAGGTATTCAAAGCAGAGAACAATCCCTGGGTGACCCCCATTGCAGACCAGTTCCAGCTTGGCG
TGTCCCATGTTTTTGAGTATATCCGTTCTGAGACATACAAATAGTGGTACCTCCGGAAATTTGAAGAGTATCCAAAGTTCAGAAAAATTA
TAATTCCATTTTTGTTTTAAGTGCGTTTTTCATGAAATTATCTTCAACTTGAAGCTTTCCAATGGCGCTTCTCTATGGACTTTGTAAATA
AGTTATATCTTTGTAATTTTCCTGCTACTTTATCATTTTCAAGATGTCCTCTAGGAATTTTTTTTCTAGTAATTTTGCAATCTACCTAAT
AAGTACCTAAATACGCTGAAATGGAGGTTGAATATCCTACTGTGTAACAGGTCAGAATTTCAAGCTCTGGGTAATAACTGCTGATATTTT
TTCTAATTTCAAATTTACCTCTTTTGGCTATGTCTTGCCAAGTGTGTATGAGACTAGACTTTACAACTGTCTTTGATGGCATTTTCAGAA
CAATAAATGTCACAATCCCTTCTATAGCCCCCTACAGTGATCTCTTCAAGGTCAACTGCAGTGTTGCTTCCCTCCCCCTATAGGGCTGGA
ATCTGTCTAGGAGCCCTCTCTCGGAGGCCACAGAGGCTGGGGGTAGCCATTGTGCAGTCATGGCCCGGGGGAAACTTGCCAACCTTCGTG
TCAGGTGCTGTGTGTAAGTGGAGAACTTGGGGATAGAGGAGGAAGCTCCTCGTGGCCCTTCCAAGGTGAGGCAAAGGCATCTGGACTTGT
TCCAGCCCAGCCCACCGGGTGACATCACCGGGCAGGGAGGGGTGCTGGTGGTGGTTCATACGGAGTAAGCTGCTCTGCCTGTGTGAGTGG
CTCCTGGGCCCTAAACAGGCACCTTTAGGCCATGGGTCACTCACCGTGAGCCATCAATGTGCTCTGGTCTGACATGGTTTCTCTCTGTCT
TCTAGTCTAGACCTAGTTTTTTTGTTCTGTTCCCCACGTATGGATATAGTAGAGATTGTTGTCTGTGAAATTTCTCTTTTGTAGATTTTG
AGTTTTCCCTTGTAGTGTAAAGAATGATCACTTTCTGTAACAATAACAAGACCACTTTTTAAGATTTATCCTGTTTGTTCTTTGTTGATT
GAAACATAATAATTGTTAAAATTCTCTACAGCCTTCTTTTTCTTCCATAGCTAATCTTCCTTCTAATAGTTTTTGCTTTCTGTTTTGCTG
TTGTTGCTTTGCAAAGCTTTCCCCTCATAGCCTGTACCTGTTATCAATATAAAATAATCTTCCTGTTGAATGCTTCATGACTTGAATTCT
ACTTTGATAAAAACATTGCCATACTGCTTTTTATCTTGATGAATTCATCTGGCATTGCTTTGCCTTATCATCTCATCTGGAGTTTTTAAA

>78495_78495_1_RSU1-SRD5A1_RSU1_chr10_16737021_ENST00000377921_SRD5A1_chr5_6668314_ENST00000274192_length(amino acids)=308AA_BP=
MRGRSGAEPFPLHPLPAPGPAPGTPSDAHPLQPWGSLRVAAKASCLSASALAVIAHVLCCCSVQTMSKSLKKLVEESREKNQPEVDMSDR
GISNMLDVNGLFTLSHITQLVLSHNKLTMVPPNIAELKNLEVLNFFNNQIEELPTQISSLQKLKHLNLGMNRLNTLPRGFGSLPALEVLD
LTYNNLSENSLPGNFFYLTTLRALYLSDNDFEILPPDIGKLTKLQILSLRDNDLISLPKEIGELTQLKELHIQGNRLTVLPPELGNLDLT

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for RSU1-SRD5A1


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


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


Top

Related Drugs for RSU1-SRD5A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for RSU1-SRD5A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource