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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:NSUN2-SRD5A1 (FusionGDB2 ID:60198)

Fusion Gene Summary for NSUN2-SRD5A1

check button Fusion gene summary
Fusion gene informationFusion gene name: NSUN2-SRD5A1
Fusion gene ID: 60198
HgeneTgene
Gene symbol

NSUN2

SRD5A1

Gene ID

54888

6715

Gene nameNOP2/Sun RNA methyltransferase 2steroid 5 alpha-reductase 1
SynonymsMISU|MRT5|SAKI|TRM4S5AR 1
Cytomap

5p15.31

5p15.31

Type of geneprotein-codingprotein-coding
DescriptionRNA cytosine C(5)-methyltransferase NSUN25-methycytoisine methyltransferaseMyc-induced SUN-domain-containing proteinNOL1/NOP2/Sun domain family, member 2NOP2/Sun RNA methyltransferase family member 2NOP2/Sun domain family, member 2mRNA cytosine C(5)3-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 date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000264670, ENST00000539938, 
ENST00000506139, ENST00000505264, 
ENST00000274192, ENST00000537411, 
ENST00000504286, ENST00000538824, 
Fusion gene scores* DoF score6 X 6 X 3=1083 X 3 X 3=27
# samples 64
** MAII scorelog2(6/108*10)=-0.84799690655495
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: NSUN2 [Title/Abstract] AND SRD5A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNSUN2(6632711)-SRD5A1(6656190), # samples:1
Anticipated loss of major functional domain due to fusion event.NSUN2-SRD5A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NSUN2-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
HgeneNSUN2

GO:0010793

regulation of mRNA export from nucleus

28418038

HgeneNSUN2

GO:0030488

tRNA methylation

17071714|31287866

HgeneNSUN2

GO:0080009

mRNA methylation

22395603|28418038|31358969


check buttonFusion gene breakpoints across NSUN2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

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
ChimerDB4OVTCGA-24-1551NSUN2chr5

6632711

-SRD5A1chr5

6656190

+


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Fusion Gene ORF analysis for NSUN2-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
Frame-shiftENST00000264670ENST00000274192NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5CDS-3UTRENST00000264670ENST00000537411NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5CDS-intronENST00000264670ENST00000504286NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5CDS-intronENST00000264670ENST00000538824NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5UTR-3CDSENST00000539938ENST00000274192NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5UTR-3UTRENST00000539938ENST00000537411NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5UTR-intronENST00000539938ENST00000504286NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5UTR-intronENST00000539938ENST00000538824NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
Frame-shiftENST00000506139ENST00000274192NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5CDS-3UTRENST00000506139ENST00000537411NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5CDS-intronENST00000506139ENST00000504286NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
5CDS-intronENST00000506139ENST00000538824NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
intron-3CDSENST00000505264ENST00000274192NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
intron-3UTRENST00000505264ENST00000537411NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
intron-intronENST00000505264ENST00000504286NSUN2chr5

6632711

-SRD5A1chr5

6656190

+
intron-intronENST00000505264ENST00000538824NSUN2chr5

6632711

-SRD5A1chr5

6656190

+

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)

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

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Fusion Genomic Features for NSUN2-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)
NSUN2chr56632711-SRD5A1chr56656190+0.0007913450.9992086
NSUN2chr56632711-SRD5A1chr56656190+0.0007913450.9992086

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.

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.

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Fusion Protein Features for NSUN2-SRD5A1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for NSUN2-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.

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Fusion Gene PPI Analysis for NSUN2-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


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Related Drugs for NSUN2-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

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Related Diseases for NSUN2-SRD5A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNSUN2C3714756Intellectual Disability10CLINGEN
HgeneNSUN2C1970199MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneNSUN2C0175691Dubowitz syndrome1ORPHANET
HgeneNSUN2C1510586Autism Spectrum Disorders1CTD_human
TgeneSRD5A1C0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneSRD5A1C0014175Endometriosis2CTD_human
TgeneSRD5A1C0032460Polycystic Ovary Syndrome2CTD_human
TgeneSRD5A1C0033578Prostatic Neoplasms2CTD_human
TgeneSRD5A1C0269102Endometrioma2CTD_human
TgeneSRD5A1C0376358Malignant neoplasm of prostate2CTD_human
TgeneSRD5A1C1136382Sclerocystic Ovaries2CTD_human
TgeneSRD5A1C0011570Mental Depression1PSYGENET
TgeneSRD5A1C0011581Depressive disorder1PSYGENET
TgeneSRD5A1C0023893Liver Cirrhosis, Experimental1CTD_human