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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:BCL2L13-DGCR14

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BCL2L13-DGCR14
FusionPDB ID: 9353
FusionGDB2.0 ID: 9353
HgeneTgene
Gene symbol

BCL2L13

DGCR14

Gene ID

23786

8220

Gene nameBCL2 like 13ess-2 splicing factor homolog
SynonymsBCL-RAMBO|Bcl2-L-13|MIL1DGCR13|DGCR14|DGS-H|DGS-I|DGSH|DGSI|ES2|ESS-2|Es2el|bis1
Cytomap

22q11.21

22q11.21|22q11.2

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-like protein 13BCL2-like 13 (apoptosis facilitator)splicing factor ESS-2 homologDiGeorge syndrome critical region gene 13DiGeorge syndrome critical region gene 14DiGeorge syndrome critical region gene DGSIDiGeorge syndrome gene HDiGeorge syndrome gene IProtein DGCR13diGeorge syndrome protein Hprot
Modification date2020031320200320
UniProtAcc

Q9BXK5

.
Ensembl transtripts involved in fusion geneENST idsENST00000337612, ENST00000543133, 
ENST00000317582, ENST00000355028, 
ENST00000399782, ENST00000418951, 
ENST00000493680, ENST00000485631, 
ENST00000538149, 
ENST00000252137, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 18 X 10=30603 X 3 X 3=27
# samples 233
** MAII scorelog2(23/3060*10)=-3.73382588663564
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BCL2L13 [Title/Abstract] AND DGCR14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BCL2L13(18166087)-DGCR14(19124945), # samples:4
Anticipated loss of major functional domain due to fusion event.BCL2L13-DGCR14 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.
BCL2L13-DGCR14 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.
BCL2L13-DGCR14 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.
BCL2L13-DGCR14 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

check buttonFusion gene breakpoints across BCL2L13 (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 DGCR14 (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
ChimerDB4UCSTCGA-N6-A4VE-01ABCL2L13chr22

18166087

-DGCR14chr22

19124945

-
ChimerDB4UCSTCGA-N6-A4VE-01ABCL2L13chr22

18166087

+DGCR14chr22

19124945

-
ChimerDB4UCSTCGA-N6-A4VEBCL2L13chr22

18166087

+DGCR14chr22

19124945

-


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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)
ENST00000399782BCL2L13chr2218166087+ENST00000252137DGCR14chr2219124945-539196842693193358
ENST00000317582BCL2L13chr2218166087+ENST00000252137DGCR14chr2219124945-499957638772801358
ENST00000493680BCL2L13chr2218166087+ENST00000252137DGCR14chr2219124945-481739436952619358
ENST00000355028BCL2L13chr2218166087+ENST00000252137DGCR14chr2219124945-477835536562580358
ENST00000418951BCL2L13chr2218166087+ENST00000252137DGCR14chr2219124945-465222935302454358

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
ENST00000399782ENST00000252137BCL2L13chr2218166087+DGCR14chr2219124945-0.0045311880.99546885
ENST00000317582ENST00000252137BCL2L13chr2218166087+DGCR14chr2219124945-0.0052412110.9947588
ENST00000493680ENST00000252137BCL2L13chr2218166087+DGCR14chr2219124945-0.0059313930.9940686
ENST00000355028ENST00000252137BCL2L13chr2218166087+DGCR14chr2219124945-0.0059949030.99400514
ENST00000418951ENST00000252137BCL2L13chr2218166087+DGCR14chr2219124945-0.0058369790.994163

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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

>9353_9353_1_BCL2L13-DGCR14_BCL2L13_chr22_18166087_ENST00000317582_DGCR14_chr22_19124945_ENST00000252137_length(amino acids)=358AA_BP=
MDDATVLRKKGYIVGINLGKGSYAKVKSAYSERLKFNVAVKIIDRKKTPTDFVERFLPREMDILATVNHGSIIKTYEIFETSDGRIYIIM
ELGVQGDLLEFIKCQGALHEDVARKMFRQLSSAVKYCHDLDIVHRDLKCENLLLDKDFNIKLSDFGFSKRCLRDSNGRIILSKTFCGSAA
YAAPEVLQSIPYQPKVYDIWSLGVILYIMVCGSMPYDDSDIRKMLRIQKEHRVDFPRSKNLTCECKDLIYRMLQPDVSQRLHIDEILSHS

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

>9353_9353_2_BCL2L13-DGCR14_BCL2L13_chr22_18166087_ENST00000355028_DGCR14_chr22_19124945_ENST00000252137_length(amino acids)=358AA_BP=
MDDATVLRKKGYIVGINLGKGSYAKVKSAYSERLKFNVAVKIIDRKKTPTDFVERFLPREMDILATVNHGSIIKTYEIFETSDGRIYIIM
ELGVQGDLLEFIKCQGALHEDVARKMFRQLSSAVKYCHDLDIVHRDLKCENLLLDKDFNIKLSDFGFSKRCLRDSNGRIILSKTFCGSAA
YAAPEVLQSIPYQPKVYDIWSLGVILYIMVCGSMPYDDSDIRKMLRIQKEHRVDFPRSKNLTCECKDLIYRMLQPDVSQRLHIDEILSHS

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

>9353_9353_3_BCL2L13-DGCR14_BCL2L13_chr22_18166087_ENST00000399782_DGCR14_chr22_19124945_ENST00000252137_length(amino acids)=358AA_BP=
MDDATVLRKKGYIVGINLGKGSYAKVKSAYSERLKFNVAVKIIDRKKTPTDFVERFLPREMDILATVNHGSIIKTYEIFETSDGRIYIIM
ELGVQGDLLEFIKCQGALHEDVARKMFRQLSSAVKYCHDLDIVHRDLKCENLLLDKDFNIKLSDFGFSKRCLRDSNGRIILSKTFCGSAA
YAAPEVLQSIPYQPKVYDIWSLGVILYIMVCGSMPYDDSDIRKMLRIQKEHRVDFPRSKNLTCECKDLIYRMLQPDVSQRLHIDEILSHS

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

>9353_9353_4_BCL2L13-DGCR14_BCL2L13_chr22_18166087_ENST00000418951_DGCR14_chr22_19124945_ENST00000252137_length(amino acids)=358AA_BP=
MDDATVLRKKGYIVGINLGKGSYAKVKSAYSERLKFNVAVKIIDRKKTPTDFVERFLPREMDILATVNHGSIIKTYEIFETSDGRIYIIM
ELGVQGDLLEFIKCQGALHEDVARKMFRQLSSAVKYCHDLDIVHRDLKCENLLLDKDFNIKLSDFGFSKRCLRDSNGRIILSKTFCGSAA
YAAPEVLQSIPYQPKVYDIWSLGVILYIMVCGSMPYDDSDIRKMLRIQKEHRVDFPRSKNLTCECKDLIYRMLQPDVSQRLHIDEILSHS

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

>9353_9353_5_BCL2L13-DGCR14_BCL2L13_chr22_18166087_ENST00000493680_DGCR14_chr22_19124945_ENST00000252137_length(amino acids)=358AA_BP=
MDDATVLRKKGYIVGINLGKGSYAKVKSAYSERLKFNVAVKIIDRKKTPTDFVERFLPREMDILATVNHGSIIKTYEIFETSDGRIYIIM
ELGVQGDLLEFIKCQGALHEDVARKMFRQLSSAVKYCHDLDIVHRDLKCENLLLDKDFNIKLSDFGFSKRCLRDSNGRIILSKTFCGSAA
YAAPEVLQSIPYQPKVYDIWSLGVILYIMVCGSMPYDDSDIRKMLRIQKEHRVDFPRSKNLTCECKDLIYRMLQPDVSQRLHIDEILSHS

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

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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/chr22:18166087/chr22:19124945)
- 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
BCL2L13

Q9BXK5

.
FUNCTION: May promote the activation of caspase-3 and apoptosis.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
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+3714_3076.33333333333333486.0MotifNote=BH4
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+4714_3076.33333333333333202.0MotifNote=BH4
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+3614_3076.33333333333333202.0MotifNote=BH4

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37207_21276.33333333333333486.0Compositional biasNote=Poly-Glu
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37311_42476.33333333333333486.0Compositional biasNote=Glu-rich
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35207_2120324.0Compositional biasNote=Poly-Glu
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35311_4240324.0Compositional biasNote=Glu-rich
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47207_21276.33333333333333202.0Compositional biasNote=Poly-Glu
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47311_42476.33333333333333202.0Compositional biasNote=Glu-rich
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36207_21276.33333333333333202.0Compositional biasNote=Poly-Glu
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36311_42476.33333333333333202.0Compositional biasNote=Glu-rich
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36207_2120324.0Compositional biasNote=Poly-Glu
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36311_4240324.0Compositional biasNote=Glu-rich
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37100_11676.33333333333333486.0MotifNote=BH3
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37147_15776.33333333333333486.0MotifNote=BH1
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37193_20676.33333333333333486.0MotifNote=BH2
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35100_1160324.0MotifNote=BH3
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35147_1570324.0MotifNote=BH1
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+3514_300324.0MotifNote=BH4
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35193_2060324.0MotifNote=BH2
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47100_11676.33333333333333202.0MotifNote=BH3
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47147_15776.33333333333333202.0MotifNote=BH1
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47193_20676.33333333333333202.0MotifNote=BH2
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36100_11676.33333333333333202.0MotifNote=BH3
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36147_15776.33333333333333202.0MotifNote=BH1
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36193_20676.33333333333333202.0MotifNote=BH2
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36100_1160324.0MotifNote=BH3
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36147_1570324.0MotifNote=BH1
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+3614_300324.0MotifNote=BH4
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36193_2060324.0MotifNote=BH2
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37246_25676.33333333333333486.0RepeatNote=A
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37261_27176.33333333333333486.0RepeatNote=A%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37425_44176.33333333333333486.0RepeatNote=B
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37443_45976.33333333333333486.0RepeatNote=B%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35246_2560324.0RepeatNote=A
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35261_2710324.0RepeatNote=A%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35425_4410324.0RepeatNote=B
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35443_4590324.0RepeatNote=B%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47246_25676.33333333333333202.0RepeatNote=A
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47261_27176.33333333333333202.0RepeatNote=A%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47425_44176.33333333333333202.0RepeatNote=B
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47443_45976.33333333333333202.0RepeatNote=B%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36246_25676.33333333333333202.0RepeatNote=A
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36261_27176.33333333333333202.0RepeatNote=A%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36425_44176.33333333333333202.0RepeatNote=B
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36443_45976.33333333333333202.0RepeatNote=B%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36246_2560324.0RepeatNote=A
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36261_2710324.0RepeatNote=A%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36425_4410324.0RepeatNote=B
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36443_4590324.0RepeatNote=B%3B approximate
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000317582+37460_48076.33333333333333486.0TransmembraneHelical
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000337612+35460_4800324.0TransmembraneHelical
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000399782+47460_48076.33333333333333202.0TransmembraneHelical
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000493680+36460_48076.33333333333333202.0TransmembraneHelical
HgeneBCL2L13chr22:18166087chr22:19124945ENST00000543133+36460_4800324.0TransmembraneHelical


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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 >>>698_BCL2L13_18166087_DGCR14_19124945_ranked_0.pdbBCL2L131816608718166087ENST00000252137DGCR14chr2219124945-
MDDATVLRKKGYIVGINLGKGSYAKVKSAYSERLKFNVAVKIIDRKKTPTDFVERFLPREMDILATVNHGSIIKTYEIFETSDGRIYIIM
ELGVQGDLLEFIKCQGALHEDVARKMFRQLSSAVKYCHDLDIVHRDLKCENLLLDKDFNIKLSDFGFSKRCLRDSNGRIILSKTFCGSAA
YAAPEVLQSIPYQPKVYDIWSLGVILYIMVCGSMPYDDSDIRKMLRIQKEHRVDFPRSKNLTCECKDLIYRMLQPDVSQRLHIDEILSHS
358


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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.
BCL2L13_pLDDT.png
all structure
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
BCL2L13
DGCR14


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 BCL2L13-DGCR14


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 BCL2L13-DGCR14


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