UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level2
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein Structure

leaf

pLDDT scores

leaf

Ramachandran Plot of Fusion Protein Structure

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:ZNF493-RPL13A

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ZNF493-RPL13A
FusionPDB ID: 102199
FusionGDB2.0 ID: 102199
HgeneTgene
Gene symbol

ZNF493

RPL13A

Gene ID

284443

23521

Gene namezinc finger protein 493ribosomal protein L13a
Synonyms-L13A|TSTA1
Cytomap

19p12

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 49360S ribosomal protein L13a23 kDa highly basic proteinepididymis secretory sperm binding proteinlarge ribosomal subunit protein uL13tissue specific transplantation antigen 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000339914, ENST00000392288, 
ENST00000594390, ENST00000596302, 
ENST00000599461, ENST00000355504, 
ENST00000477613, ENST00000391857, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 3 X 4=4815 X 16 X 9=2160
# samples 415
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/2160*10)=-3.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ZNF493 [Title/Abstract] AND RPL13A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ZNF493(21580069)-RPL13A(49993107), # samples:2
Anticipated loss of major functional domain due to fusion event.ZNF493-RPL13A 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.
ZNF493-RPL13A 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.
ZNF493-RPL13A seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
ZNF493-RPL13A seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ZNF493-RPL13A seems lost the major protein functional domain in Tgene partner, which is a essential 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
TgeneRPL13A

GO:0017148

negative regulation of translation

14567916|23071094

TgeneRPL13A

GO:0071346

cellular response to interferon-gamma

15479637

TgeneRPL13A

GO:1901194

negative regulation of formation of translation preinitiation complex

17218275


check buttonFusion gene breakpoints across ZNF493 (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 RPL13A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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
ChimerDB4PAADTCGA-US-A776-01AZNF493chr19

21580069

+RPL13Achr19

49993107

+
ChimerDB4PAADTCGA-US-A776ZNF493chr19

21580069

+RPL13Achr19

49993107

+


Top

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)
ENST00000596302ZNF493chr1921580069+ENST00000391857RPL13Achr1949993107+1239149119745208
ENST00000392288ZNF493chr1921580069+ENST00000391857RPL13Achr1949993107+1229139109735208
ENST00000594390ZNF493chr1921580069+ENST00000391857RPL13Achr1949993107+1225135105731208
ENST00000339914ZNF493chr1921580069+ENST00000391857RPL13Achr1949993107+120211282708208

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
ENST00000596302ENST00000391857ZNF493chr1921580069+RPL13Achr1949993107+0.0052018590.99479806
ENST00000392288ENST00000391857ZNF493chr1921580069+RPL13Achr1949993107+0.0058249060.99417514
ENST00000594390ENST00000391857ZNF493chr1921580069+RPL13Achr1949993107+0.0055767820.9944232
ENST00000339914ENST00000391857ZNF493chr1921580069+RPL13Achr1949993107+0.0057190970.99428093

Top

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

>102199_102199_1_ZNF493-RPL13A_ZNF493_chr19_21580069_ENST00000339914_RPL13A_chr19_49993107_ENST00000391857_length(amino acids)=208AA_BP=10
MPGPPESLDMVLVLDGRGHLLGRLAAIVAKQVLLGRKVVVVRCEGINISGNFYRNKLKYLAFLRKRMNTNPSRGPYHFRAPSRIFWRTVR
GMLPHKTKRGQAALDRLKVFDGIPPPYDKKKRMVVPAALKVVRLKPTRKFAYLGRLAHEVGWKYQAVTATLEEKRKEKAKIHYRKKKQLM

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

>102199_102199_2_ZNF493-RPL13A_ZNF493_chr19_21580069_ENST00000392288_RPL13A_chr19_49993107_ENST00000391857_length(amino acids)=208AA_BP=10
MPGPPESLDMVLVLDGRGHLLGRLAAIVAKQVLLGRKVVVVRCEGINISGNFYRNKLKYLAFLRKRMNTNPSRGPYHFRAPSRIFWRTVR
GMLPHKTKRGQAALDRLKVFDGIPPPYDKKKRMVVPAALKVVRLKPTRKFAYLGRLAHEVGWKYQAVTATLEEKRKEKAKIHYRKKKQLM

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

>102199_102199_3_ZNF493-RPL13A_ZNF493_chr19_21580069_ENST00000594390_RPL13A_chr19_49993107_ENST00000391857_length(amino acids)=208AA_BP=10
MPGPPESLDMVLVLDGRGHLLGRLAAIVAKQVLLGRKVVVVRCEGINISGNFYRNKLKYLAFLRKRMNTNPSRGPYHFRAPSRIFWRTVR
GMLPHKTKRGQAALDRLKVFDGIPPPYDKKKRMVVPAALKVVRLKPTRKFAYLGRLAHEVGWKYQAVTATLEEKRKEKAKIHYRKKKQLM

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

>102199_102199_4_ZNF493-RPL13A_ZNF493_chr19_21580069_ENST00000596302_RPL13A_chr19_49993107_ENST00000391857_length(amino acids)=208AA_BP=10
MPGPPESLDMVLVLDGRGHLLGRLAAIVAKQVLLGRKVVVVRCEGINISGNFYRNKLKYLAFLRKRMNTNPSRGPYHFRAPSRIFWRTVR
GMLPHKTKRGQAALDRLKVFDGIPPPYDKKKRMVVPAALKVVRLKPTRKFAYLGRLAHEVGWKYQAVTATLEEKRKEKAKIHYRKKKQLM

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

Top

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/chr19:21580069/chr19:49993107)
- 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
..
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.
- 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
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14109_13110.0104.0Zinc fingerC2H2-type 4%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14137_15910.0104.0Zinc fingerC2H2-type 5
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14165_18710.0104.0Zinc fingerC2H2-type 6%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14193_21510.0104.0Zinc fingerC2H2-type 7%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14221_24310.0104.0Zinc fingerC2H2-type 8%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14249_27110.0104.0Zinc fingerC2H2-type 9
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+1426_4810.0104.0Zinc fingerC2H2-type 1%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14277_29910.0104.0Zinc fingerC2H2-type 10
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14305_32710.0104.0Zinc fingerC2H2-type 11
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14333_35510.0104.0Zinc fingerC2H2-type 12
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14361_38310.0104.0Zinc fingerC2H2-type 13
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14389_41110.0104.0Zinc fingerC2H2-type 14
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14417_43910.0104.0Zinc fingerC2H2-type 15
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14445_46710.0104.0Zinc fingerC2H2-type 16
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14473_49510.0104.0Zinc fingerC2H2-type 17
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14501_52310.0104.0Zinc fingerC2H2-type 18
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14529_55110.0104.0Zinc fingerC2H2-type 19
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+1454_7610.0104.0Zinc fingerC2H2-type 2
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14557_57910.0104.0Zinc fingerC2H2-type 20
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14585_60710.0104.0Zinc fingerC2H2-type 21
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+14613_63510.0104.0Zinc fingerC2H2-type 22
HgeneZNF493chr19:21580069chr19:49993107ENST00000339914+1482_10410.0104.0Zinc fingerC2H2-type 3
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12109_1310647.0Zinc fingerC2H2-type 4%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12137_1590647.0Zinc fingerC2H2-type 5
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12165_1870647.0Zinc fingerC2H2-type 6%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12193_2150647.0Zinc fingerC2H2-type 7%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12221_2430647.0Zinc fingerC2H2-type 8%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12249_2710647.0Zinc fingerC2H2-type 9
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+1226_480647.0Zinc fingerC2H2-type 1%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12277_2990647.0Zinc fingerC2H2-type 10
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12305_3270647.0Zinc fingerC2H2-type 11
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12333_3550647.0Zinc fingerC2H2-type 12
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12361_3830647.0Zinc fingerC2H2-type 13
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12389_4110647.0Zinc fingerC2H2-type 14
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12417_4390647.0Zinc fingerC2H2-type 15
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12445_4670647.0Zinc fingerC2H2-type 16
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12473_4950647.0Zinc fingerC2H2-type 17
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12501_5230647.0Zinc fingerC2H2-type 18
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12529_5510647.0Zinc fingerC2H2-type 19
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+1254_760647.0Zinc fingerC2H2-type 2
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12557_5790647.0Zinc fingerC2H2-type 20
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12585_6070647.0Zinc fingerC2H2-type 21
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+12613_6350647.0Zinc fingerC2H2-type 22
HgeneZNF493chr19:21580069chr19:49993107ENST00000355504+1282_1040647.0Zinc fingerC2H2-type 3
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14109_13110.0775.0Zinc fingerC2H2-type 4%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14137_15910.0775.0Zinc fingerC2H2-type 5
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14165_18710.0775.0Zinc fingerC2H2-type 6%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14193_21510.0775.0Zinc fingerC2H2-type 7%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14221_24310.0775.0Zinc fingerC2H2-type 8%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14249_27110.0775.0Zinc fingerC2H2-type 9
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+1426_4810.0775.0Zinc fingerC2H2-type 1%3B degenerate
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14277_29910.0775.0Zinc fingerC2H2-type 10
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14305_32710.0775.0Zinc fingerC2H2-type 11
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14333_35510.0775.0Zinc fingerC2H2-type 12
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14361_38310.0775.0Zinc fingerC2H2-type 13
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14389_41110.0775.0Zinc fingerC2H2-type 14
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14417_43910.0775.0Zinc fingerC2H2-type 15
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14445_46710.0775.0Zinc fingerC2H2-type 16
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14473_49510.0775.0Zinc fingerC2H2-type 17
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14501_52310.0775.0Zinc fingerC2H2-type 18
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14529_55110.0775.0Zinc fingerC2H2-type 19
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+1454_7610.0775.0Zinc fingerC2H2-type 2
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14557_57910.0775.0Zinc fingerC2H2-type 20
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14585_60710.0775.0Zinc fingerC2H2-type 21
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+14613_63510.0775.0Zinc fingerC2H2-type 22
HgeneZNF493chr19:21580069chr19:49993107ENST00000392288+1482_10410.0775.0Zinc fingerC2H2-type 3


Top

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 >>>302_ZNF493_21580069_RPL13A_49993107_ranked_0.pdbZNF4932158006921580069ENST00000391857RPL13Achr1949993107+
MPGPPESLDMVLVLDGRGHLLGRLAAIVAKQVLLGRKVVVVRCEGINISGNFYRNKLKYLAFLRKRMNTNPSRGPYHFRAPSRIFWRTVR
GMLPHKTKRGQAALDRLKVFDGIPPPYDKKKRMVVPAALKVVRLKPTRKFAYLGRLAHEVGWKYQAVTATLEEKRKEKAKIHYRKKKQLM
208


Top

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.
ZNF493_pLDDT.png
all structure
all structure
RPL13A_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


Top

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

Top

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
ZNF493
RPL13A


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


Top

Related Drugs to ZNF493-RPL13A


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

Top

Related Diseases to ZNF493-RPL13A


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