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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:CAPZA2-CMSS1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CAPZA2-CMSS1
FusionPDB ID: 12978
FusionGDB2.0 ID: 12978
HgeneTgene
Gene symbol

CAPZA2

CMSS1

Gene ID

830

84319

Gene namecapping actin protein of muscle Z-line subunit alpha 2cms1 ribosomal small subunit homolog
SynonymsCAPPA2|CAPZC3orf26
Cytomap

7q31.2

3q12.1

Type of geneprotein-codingprotein-coding
DescriptionF-actin-capping protein subunit alpha-2F-actin capping protein alpha-2 subunitcapZ alpha-2capping actin protein of muscle Z-line alpha subunit 2capping protein (actin filament) muscle Z-line, alpha 2epididymis secretory sperm binding proteinprotein CMSS1
Modification date2020031320200313
UniProtAcc

P47755

Q9BQ75

Ensembl transtripts involved in fusion geneENST idsENST00000361183, ENST00000458284, 
ENST00000490693, ENST00000466023, 
ENST00000489081, ENST00000496116, 
ENST00000421999, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 6 X 9=91811 X 9 X 9=891
# samples 2013
** MAII scorelog2(20/918*10)=-2.19849415363908
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/891*10)=-2.77691380849347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CAPZA2 [Title/Abstract] AND CMSS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CAPZA2(116528244)-CMSS1(99865817), # samples:2
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

check buttonFusion gene breakpoints across CAPZA2 (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 CMSS1 (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-FC-A4JI-01ACAPZA2chr7

116528244

+CMSS1chr3

99865817

+
ChimerDB4PRADTCGA-FC-A4JICAPZA2chr7

116528244

+CMSS1chr3

99865817

+


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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)
ENST00000361183CAPZA2chr7116528244+ENST00000421999CMSS1chr399865817+12332421001017305
ENST00000458284CAPZA2chr7116528244+ENST00000421999CMSS1chr399865817+114715614931305
ENST00000490693CAPZA2chr7116528244+ENST00000421999CMSS1chr399865817+110611512890292

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
ENST00000361183ENST00000421999CAPZA2chr7116528244+CMSS1chr399865817+0.0035148920.9964851
ENST00000458284ENST00000421999CAPZA2chr7116528244+CMSS1chr399865817+0.0039290910.99607086
ENST00000490693ENST00000421999CAPZA2chr7116528244+CMSS1chr399865817+0.0045948360.9954052

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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

>12978_12978_1_CAPZA2-CMSS1_CAPZA2_chr7_116528244_ENST00000361183_CMSS1_chr3_99865817_ENST00000421999_length(amino acids)=305AA_BP=45
MPPPPPRFVARRKMADLEEQLSDEEKVRIAAKFIIHAPPGEFNEVFNEASDGEGEGDTEVMQQETVPVPVPSEKTKQPKECFLIQPKERK
ENTTKTRKRRKKKITDVLAKSEPKPGLPEDLQKLMKDYYSSRRLVIELEELNLPDSCFLKANDLTHSLSSYLKEICPKWVKLRKNHSEKK
SVLMLIICSSAVRALELIRSMTAFRGDGKVIKLFAKHIKVQAQVKLLEKRVVHLGVGTPGRIKELVKQGGLNLSPLKFLVFDWNWRDQKL

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

>12978_12978_2_CAPZA2-CMSS1_CAPZA2_chr7_116528244_ENST00000458284_CMSS1_chr3_99865817_ENST00000421999_length(amino acids)=305AA_BP=45
MPPPPPRFVARRKMADLEEQLSDEEKVRIAAKFIIHAPPGEFNEVFNEASDGEGEGDTEVMQQETVPVPVPSEKTKQPKECFLIQPKERK
ENTTKTRKRRKKKITDVLAKSEPKPGLPEDLQKLMKDYYSSRRLVIELEELNLPDSCFLKANDLTHSLSSYLKEICPKWVKLRKNHSEKK
SVLMLIICSSAVRALELIRSMTAFRGDGKVIKLFAKHIKVQAQVKLLEKRVVHLGVGTPGRIKELVKQGGLNLSPLKFLVFDWNWRDQKL

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

>12978_12978_3_CAPZA2-CMSS1_CAPZA2_chr7_116528244_ENST00000490693_CMSS1_chr3_99865817_ENST00000421999_length(amino acids)=292AA_BP=32
MADLEEQLSDEEKVRIAAKFIIHAPPGEFNEVFNEASDGEGEGDTEVMQQETVPVPVPSEKTKQPKECFLIQPKERKENTTKTRKRRKKK
ITDVLAKSEPKPGLPEDLQKLMKDYYSSRRLVIELEELNLPDSCFLKANDLTHSLSSYLKEICPKWVKLRKNHSEKKSVLMLIICSSAVR
ALELIRSMTAFRGDGKVIKLFAKHIKVQAQVKLLEKRVVHLGVGTPGRIKELVKQGGLNLSPLKFLVFDWNWRDQKLRRMMDIPEIRKEV

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

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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/chr7:116528244/chr3:99865817)
- 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
CAPZA2

P47755

CMSS1

Q9BQ75

FUNCTION: F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments.

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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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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 >>>550_CAPZA2_116528244_CMSS1_99865817_ranked_0.pdbCAPZA2116528244116528244ENST00000421999CMSS1chr399865817+
MPPPPPRFVARRKMADLEEQLSDEEKVRIAAKFIIHAPPGEFNEVFNEASDGEGEGDTEVMQQETVPVPVPSEKTKQPKECFLIQPKERK
ENTTKTRKRRKKKITDVLAKSEPKPGLPEDLQKLMKDYYSSRRLVIELEELNLPDSCFLKANDLTHSLSSYLKEICPKWVKLRKNHSEKK
SVLMLIICSSAVRALELIRSMTAFRGDGKVIKLFAKHIKVQAQVKLLEKRVVHLGVGTPGRIKELVKQGGLNLSPLKFLVFDWNWRDQKL
305


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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.
CAPZA2_pLDDT.png
all structure
all structure
CMSS1_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
CAPZA2
CMSS1


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 CAPZA2-CMSS1


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 CAPZA2-CMSS1


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