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:SON-PKM (FusionGDB2 ID:85161)

Fusion Gene Summary for SON-PKM

check button Fusion gene summary
Fusion gene informationFusion gene name: SON-PKM
Fusion gene ID: 85161
HgeneTgene
Gene symbol

SON

PKM

Gene ID

6651

5315

Gene nameSON DNA and RNA binding proteinpyruvate kinase M1/2
SynonymsBASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMSCTHBP|HEL-S-30|OIP3|PK3|PKM2|TCB|THBP1|p58
Cytomap

21q22.11

15q23

Type of geneprotein-codingprotein-coding
Descriptionprotein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinSON DNA binding proteinnegative regulatory element-binding proteinpyruvate kinase PKMOPA-interacting protein 3PK, muscle typecytosolic thyroid hormone-binding proteinepididymis secretory protein Li 30pyruvate kinase 2/3pyruvate kinase isozymes M1/M2pyruvate kinase muscle isozymepyruvate kinase, musclethyroid ho
Modification date2020031320200329
UniProtAcc

SOS2

Q99640

Ensembl transtripts involved in fusion geneENST00000290239, ENST00000300278, 
ENST00000356577, ENST00000381679, 
ENST00000381692, ENST00000470533, 
ENST00000319622, ENST00000335181, 
ENST00000389093, ENST00000449901, 
ENST00000565154, ENST00000565184, 
ENST00000568459, ENST00000568883, 
Fusion gene scores* DoF score12 X 12 X 5=72034 X 37 X 9=11322
# samples 1641
** MAII scorelog2(16/720*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(41/11322*10)=-4.78736110881616
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SON [Title/Abstract] AND PKM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSON(34929569)-PKM(72502012), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneSON

GO:0006397

mRNA processing

21504830

HgeneSON

GO:0043066

negative regulation of apoptotic process

10509013

HgeneSON

GO:0048024

regulation of mRNA splicing, via spliceosome

21504830

TgenePKM

GO:0012501

programmed cell death

17308100


check buttonFusion gene breakpoints across SON (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 PKM (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
ChiTaRS5.0N/ABE816196SONchr21

34929569

-PKMchr15

72502012

+


Top

Fusion Gene ORF analysis for SON-PKM

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-intronENST00000290239ENST00000319622SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000335181SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000389093SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000449901SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000565154SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000565184SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000568459SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000290239ENST00000568883SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000319622SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000335181SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000389093SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000449901SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000565154SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000565184SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000568459SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000300278ENST00000568883SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000319622SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000335181SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000389093SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000449901SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000565154SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000565184SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000568459SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000356577ENST00000568883SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000319622SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000335181SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000389093SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000449901SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000565154SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000565184SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000568459SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381679ENST00000568883SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000319622SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000335181SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000389093SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000449901SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000565154SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000565184SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000568459SONchr21

34929569

-PKMchr15

72502012

+
5CDS-intronENST00000381692ENST00000568883SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000319622SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000335181SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000389093SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000449901SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000565154SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000565184SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000568459SONchr21

34929569

-PKMchr15

72502012

+
intron-intronENST00000470533ENST00000568883SONchr21

34929569

-PKMchr15

72502012

+

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

Top

Fusion Genomic Features for SON-PKM


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)

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.

Top

Fusion Protein Features for SON-PKM


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/:34929569/:72502012)
- 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
SON

SOS2

PKM

Q99640

1332FUNCTION: Acts as a negative regulator of entry into mitosis (G2 to M transition) by phosphorylation of the CDK1 kinase specifically when CDK1 is complexed to cyclins. Mediates phosphorylation of CDK1 predominantly on 'Thr-14'. Also involved in Golgi fragmentation. May be involved in phosphorylation of CDK1 on 'Tyr-15' to a lesser degree, however tyrosine kinase activity is unclear and may be indirect. May be a downstream target of Notch signaling pathway during eye development. {ECO:0000269|PubMed:10373560, ECO:0000269|PubMed:9001210}.

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


Top

Fusion Gene Sequence for SON-PKM


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.

Top

Fusion Gene PPI Analysis for SON-PKM


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 SON-PKM


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 SON-PKM


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