Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
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:FRS2-CDK4 (FusionGDB2 ID:HG10818TG1019)

Fusion Gene Summary for FRS2-CDK4

check button Fusion gene summary
Fusion gene informationFusion gene name: FRS2-CDK4
Fusion gene ID: hg10818tg1019
HgeneTgene
Gene symbol

FRS2

CDK4

Gene ID

10818

1019

Gene namefibroblast growth factor receptor substrate 2cyclin dependent kinase 4
SynonymsFRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1CMM3|PSK-J3
Cytomap('FRS2')('CDK4')

12q15

12q14.1

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTepididymis secretory sperm binding proteinsuc1-associated neurotrophic factor target 1cyclin-dependent kinase 4cell division protein kinase 4
Modification date2020031320200329
UniProtAcc

Q8WU20

P11802

Ensembl transtripts involved in fusion geneENST00000299293, ENST00000397997, 
ENST00000549921, ENST00000550389, 
Fusion gene scores* DoF score71 X 15 X 14=1491012 X 10 X 4=480
# samples 7312
** MAII scorelog2(73/14910*10)=-4.35223998340343
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRS2 [Title/Abstract] AND CDK4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFRS2(69931763)-CDK4(58145519), # 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
TgeneCDK4

GO:0006468

protein phosphorylation

8114739

TgeneCDK4

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

TgeneCDK4

GO:0071157

negative regulation of cell cycle arrest

19124461



check button Fusion gene information
* 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
ChimerDB4SARCTCGA-3B-A9HJ-01AFRS2chr12

69931763

+CDK4chr12

58145519

-


Top

Fusion Gene ORF analysis for FRS2-CDK4

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
5UTR-5UTRENST00000299293ENST00000257904FRS2chr12

69931763

+CDK4chr12

58145519

-
5UTR-5UTRENST00000299293ENST00000312990FRS2chr12

69931763

+CDK4chr12

58145519

-
5UTR-5UTRENST00000299293ENST00000540325FRS2chr12

69931763

+CDK4chr12

58145519

-
5UTR-5UTRENST00000299293ENST00000551888FRS2chr12

69931763

+CDK4chr12

58145519

-
5UTR-intronENST00000299293ENST00000549606FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000397997ENST00000257904FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000397997ENST00000312990FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000397997ENST00000540325FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000397997ENST00000551888FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000549921ENST00000257904FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000549921ENST00000312990FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000549921ENST00000540325FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000549921ENST00000551888FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000550389ENST00000257904FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000550389ENST00000312990FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000550389ENST00000540325FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-5UTRENST00000550389ENST00000551888FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-intronENST00000397997ENST00000549606FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-intronENST00000549921ENST00000549606FRS2chr12

69931763

+CDK4chr12

58145519

-
intron-intronENST00000550389ENST00000549606FRS2chr12

69931763

+CDK4chr12

58145519

-

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 FRS2-CDK4


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)


Top

Fusion Protein Features for FRS2-CDK4


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/:69931763/:58145519)
- 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
FRS2

Q8WU20

CDK4

P11802

FUNCTION: Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1. {ECO:0000269|PubMed:12974390, ECO:0000269|PubMed:21765395}.FUNCTION: Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. {ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403, ECO:0000269|PubMed:9003781}.

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 FRS2-CDK4


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 FRS2-CDK4


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 FRS2-CDK4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCDK4P11802DB09073PalbociclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK4P11802DB11730RibociclibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneCDK4P11802DB12001AbemaciclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK4P11802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

Top

Related Diseases for FRS2-CDK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1836892MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 39CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0024668Mammary Neoplasms, Experimental3CTD_human
TgeneC0007097Carcinoma2CTD_human
TgeneC0023827liposarcoma2CGI;CTD_human
TgeneC0024667Animal Mammary Neoplasms2CTD_human
TgeneC0205696Anaplastic carcinoma2CTD_human
TgeneC0205697Carcinoma, Spindle-Cell2CTD_human
TgeneC0205698Undifferentiated carcinoma2CTD_human
TgeneC0205699Carcinomatosis2CTD_human
TgeneC0205824Liposarcoma, Dedifferentiated2CTD_human;ORPHANET
TgeneC0205825Liposarcoma, Pleomorphic2CTD_human
TgeneC1257925Mammary Carcinoma, Animal2CTD_human
TgeneC1370889Liposarcoma, well differentiated2CTD_human;ORPHANET
TgeneC0006118Brain Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0153633Malignant neoplasm of brain1CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneC0677866Brain Stem Neoplasms1CTD_human
TgeneC0750974Brain Tumor, Primary1CTD_human
TgeneC0750977Recurrent Brain Neoplasm1CTD_human
TgeneC0750979Primary malignant neoplasm of brain1CTD_human
TgeneC0751886Brain Stem Neoplasms, Primary1CTD_human
TgeneC0751887Medullary Neoplasms1CTD_human
TgeneC0751888Mesencephalic Neoplasms1CTD_human
TgeneC0751889Pontine Tumors1CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1527390Neoplasms, Intracranial1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET