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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CDK7-SH3BGR

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CDK7-SH3BGR
FusionPDB ID: 15308
FusionGDB2.0 ID: 15308
HgeneTgene
Gene symbol

CDK7

SH3BGR

Gene ID

1022

6451

Gene namecyclin dependent kinase 7SH3 domain binding glutamate rich protein like
SynonymsCAK|CAK1|CDKN7|HCAK|MO15|STK1|p39MO15HEL-S-115|SH3BGR
Cytomap

5q13.2

Xq21.1

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 739 KDa protein kinaseCDK-activating kinase 1TFIIH basal transcription factor complex kinase subunitcell division protein kinase 7cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)homolog of XenopSH3 domain-binding glutamic acid-rich-like proteinSH3 domain binding glutamic acid-rich protein likeSH3-binding domain glutamic acid-rich protein likeepididymis secretory protein Li 115
Modification date2020031320200313
UniProtAcc

P50613

.
Ensembl transtripts involved in fusion geneENST idsENST00000513629, ENST00000256443, 
ENST00000514676, ENST00000502604, 
ENST00000380634, ENST00000380637, 
ENST00000333634, ENST00000380631, 
ENST00000458295, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 1 X 3=188 X 7 X 6=336
# samples 79
** MAII scorelog2(7/18*10)=1.95935801550265
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CDK7 [Title/Abstract] AND SH3BGR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CDK7(68531280)-SH3BGR(40871749), # samples:3
Anticipated loss of major functional domain due to fusion event.CDK7-SH3BGR seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CDK7-SH3BGR seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CDK7-SH3BGR seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CDK7-SH3BGR seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneCDK7

GO:0006366

transcription by RNA polymerase II

9852112

HgeneCDK7

GO:0045944

positive regulation of transcription by RNA polymerase II

8692841


check buttonFusion gene breakpoints across CDK7 (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 SH3BGR (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4PRADTCGA-ZG-A9NI-01ACDK7chr5

68531280

-SH3BGRchr21

40871749

+
ChimerDB4PRADTCGA-ZG-A9NI-01ACDK7chr5

68531280

+SH3BGRchr21

40871749

+
ChimerDB4PRADTCGA-ZG-A9NICDK7chr5

68531280

+SH3BGRchr21

40871748

+
ChimerDB4PRADTCGA-ZG-A9NICDK7chr5

68531280

+SH3BGRchr21

40871749

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000256443CDK7chr568531280+ENST00000380637SH3BGRchr2140871749+90122952447131
ENST00000256443CDK7chr568531280+ENST00000380634SH3BGRchr2140871749+75022952447131
ENST00000514676CDK7chr568531280+ENST00000380637SH3BGRchr2140871749+86219013408131
ENST00000514676CDK7chr568531280+ENST00000380634SH3BGRchr2140871749+71119013408131
ENST00000256443CDK7chr568531280+ENST00000380637SH3BGRchr2140871748+90122952447131
ENST00000256443CDK7chr568531280+ENST00000380634SH3BGRchr2140871748+75022952447131
ENST00000514676CDK7chr568531280+ENST00000380637SH3BGRchr2140871748+86219013408131
ENST00000514676CDK7chr568531280+ENST00000380634SH3BGRchr2140871748+71119013408131

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
ENST00000256443ENST00000380637CDK7chr568531280+SH3BGRchr2140871749+0.0039058120.99609417
ENST00000256443ENST00000380634CDK7chr568531280+SH3BGRchr2140871749+0.0039264080.9960736
ENST00000514676ENST00000380637CDK7chr568531280+SH3BGRchr2140871749+0.0030274220.99697256
ENST00000514676ENST00000380634CDK7chr568531280+SH3BGRchr2140871749+0.0024056360.9975943
ENST00000256443ENST00000380637CDK7chr568531280+SH3BGRchr2140871748+0.0039058120.99609417
ENST00000256443ENST00000380634CDK7chr568531280+SH3BGRchr2140871748+0.0039264080.9960736
ENST00000514676ENST00000380637CDK7chr568531280+SH3BGRchr2140871748+0.0030274220.99697256
ENST00000514676ENST00000380634CDK7chr568531280+SH3BGRchr2140871748+0.0024056360.9975943

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>15308_15308_1_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000256443_SH3BGR_chr21_40871748_ENST00000380634_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_2_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000256443_SH3BGR_chr21_40871748_ENST00000380637_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_3_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000256443_SH3BGR_chr21_40871749_ENST00000380634_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_4_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000256443_SH3BGR_chr21_40871749_ENST00000380637_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_5_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000514676_SH3BGR_chr21_40871748_ENST00000380634_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_6_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000514676_SH3BGR_chr21_40871748_ENST00000380637_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_7_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000514676_SH3BGR_chr21_40871749_ENST00000380634_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

>15308_15308_8_CDK7-SH3BGR_CDK7_chr5_68531280_ENST00000514676_SH3BGR_chr21_40871749_ENST00000380637_length(amino acids)=131AA_BP=59
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN

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

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Fusion Protein Functional Features


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/chr5:68531280/chr21:40871749)
- 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
CDK7

P50613

.
FUNCTION: Serine/threonine kinase involved in cell cycle control and in RNA polymerase II-mediated RNA transcription. Cyclin-dependent kinases (CDKs) are activated by the binding to a cyclin and mediate the progression through the cell cycle. Each different complex controls a specific transition between 2 subsequent phases in the cell cycle. Required for both activation and complex formation of CDK1/cyclin-B during G2-M transition, and for activation of CDK2/cyclins during G1-S transition (but not complex formation). CDK7 is the catalytic subunit of the CDK-activating kinase (CAK) complex. Phosphorylates SPT5/SUPT5H, SF1/NR5A1, POLR2A, p53/TP53, CDK1, CDK2, CDK4, CDK6 and CDK11B/CDK11. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation, thus regulating cell cycle progression. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Phosphorylation of POLR2A in complex with DNA promotes transcription initiation by triggering dissociation from DNA. Its expression and activity are constant throughout the cell cycle. Upon DNA damage, triggers p53/TP53 activation by phosphorylation, but is inactivated in turn by p53/TP53; this feedback loop may lead to an arrest of the cell cycle and of the transcription, helping in cell recovery, or to apoptosis. Required for DNA-bound peptides-mediated transcription and cellular growth inhibition. {ECO:0000269|PubMed:10024882, ECO:0000269|PubMed:11113184, ECO:0000269|PubMed:16327805, ECO:0000269|PubMed:17373709, ECO:0000269|PubMed:17386261, ECO:0000269|PubMed:17901130, ECO:0000269|PubMed:19015234, ECO:0000269|PubMed:19071173, ECO:0000269|PubMed:19136461, ECO:0000269|PubMed:19450536, ECO:0000269|PubMed:19667075, ECO:0000269|PubMed:20360007, ECO:0000269|PubMed:9372954, ECO:0000269|PubMed:9840937}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDK7chr5:68531280chr21:40871748ENST00000256443+21218_2642.0347.0Nucleotide bindingATP
HgeneCDK7chr5:68531280chr21:40871749ENST00000256443+21218_2642.0347.0Nucleotide bindingATP
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000033363427170_239167.0275.6666666666667Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000038063127170_23956.0122.33333333333333Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000038063427170_23956.0209.0Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000038063727170_23956.0243.66666666666666Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000033363427170_239167.0275.6666666666667Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000038063127170_23956.0122.33333333333333Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000038063427170_23956.0209.0Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000038063727170_23956.0243.66666666666666Compositional biasNote=Glu-rich (acidic)
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000038063127124_13056.0122.33333333333333MotifSH3-binding
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000038063427124_13056.0209.0MotifSH3-binding
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000038063727124_13056.0243.66666666666666MotifSH3-binding
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000038063127124_13056.0122.33333333333333MotifSH3-binding
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000038063427124_13056.0209.0MotifSH3-binding
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000038063727124_13056.0243.66666666666666MotifSH3-binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDK7chr5:68531280chr21:40871748ENST00000256443+21212_29542.0347.0DomainProtein kinase
HgeneCDK7chr5:68531280chr21:40871749ENST00000256443+21212_29542.0347.0DomainProtein kinase
TgeneSH3BGRchr5:68531280chr21:40871748ENST0000033363427124_130167.0275.6666666666667MotifSH3-binding
TgeneSH3BGRchr5:68531280chr21:40871749ENST0000033363427124_130167.0275.6666666666667MotifSH3-binding


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>69_CDK7_68531280_SH3BGR_40871749_ranked_0.pdbCDK76853128068531280ENST00000380634SH3BGRchr2140871749+
MSWELALFGWSRALRRRMALDVKSRAKRYEKLDFLGEGQFATVYKARDKNTNQIVAIKKGSEKAEEGGETEAQKEGSEDVGNLPEAQEKN
131


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
CDK7_pLDDT.png
all structure
all structure
SH3BGR_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CDK7
SH3BGR


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CDK7-SH3BGR


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CDK7-SH3BGR


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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