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Center for Computational Systems Medicine level1
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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-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:BCL2L1-RHAG

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BCL2L1-RHAG
FusionPDB ID: 9377
FusionGDB2.0 ID: 9377
HgeneTgene
Gene symbol

BCL2L1

RHAG

Gene ID

598

6005

Gene nameBCL2 like 1Rh associated glycoprotein
SynonymsBCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52CD241|OHS|OHST|RH2|RH50A|RHNR|Rh50|Rh50GP|SLC42A1
Cytomap

20q11.21

6p12.3

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52ammonium transporter Rh type ARh 50 glycoproteinRhesus associated polypeptide, 50-KDRhesus blood group-associated glycoproteinerythrocyte membrane glycoprotein Rh50erythrocyte plasma membrane 50 kDa glycoproteinmutant Rh associated glycoproteinrh f
Modification date2020032720200313
UniProtAcc

Q9BZR8

.
Ensembl transtripts involved in fusion geneENST idsENST00000307677, ENST00000420653, 
ENST00000376062, ENST00000376055, 
ENST00000229810, ENST00000371175, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 6 X 5=2404 X 3 X 4=48
# samples 84
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BCL2L1 [Title/Abstract] AND RHAG [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BCL2L1(30309458)-RHAG(49583484), # samples:2
Anticipated loss of major functional domain due to fusion event.BCL2L1-RHAG 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.
BCL2L1-RHAG 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.
BCL2L1-RHAG 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.
BCL2L1-RHAG 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.
BCL2L1-RHAG seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BCL2L1-RHAG seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneBCL2L1

GO:0001836

release of cytochrome c from mitochondria

9843949

HgeneBCL2L1

GO:0019050

suppression by virus of host apoptotic process

15231831

HgeneBCL2L1

GO:0034097

response to cytokine

9184696

HgeneBCL2L1

GO:0043066

negative regulation of apoptotic process

7650367|9388232

HgeneBCL2L1

GO:0046902

regulation of mitochondrial membrane permeability

9843949

HgeneBCL2L1

GO:0051881

regulation of mitochondrial membrane potential

9843949

HgeneBCL2L1

GO:1900118

negative regulation of execution phase of apoptosis

20673843

HgeneBCL2L1

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

26582200

HgeneBCL2L1

GO:1902230

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage

16608847

HgeneBCL2L1

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

29507230

HgeneBCL2L1

GO:1903077

negative regulation of protein localization to plasma membrane

21041309

HgeneBCL2L1

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

12011449

TgeneRHAG

GO:0006873

cellular ion homeostasis

15856280

TgeneRHAG

GO:0015670

carbon dioxide transport

16574458|17712059|19273840

TgeneRHAG

GO:0015672

monovalent inorganic cation transport

18931342

TgeneRHAG

GO:0015696

ammonium transport

15856280|15929723|16574458|16866382|17712059|19273840


check buttonFusion gene breakpoints across BCL2L1 (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 RHAG (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
ChimerDB4OVTCGA-13-0924-01ABCL2L1chr20

30309458

-RHAGchr6

49583484

-


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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)
ENST00000376062BCL2L1chr2030309458-ENST00000371175RHAGchr649583484-23369433401680446
ENST00000376062BCL2L1chr2030309458-ENST00000229810RHAGchr649583484-16499433401506388

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
ENST00000376062ENST00000371175BCL2L1chr2030309458-RHAGchr649583484-0.000779220.9992207
ENST00000376062ENST00000229810BCL2L1chr2030309458-RHAGchr649583484-0.0040679890.99593204

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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

>9377_9377_1_BCL2L1-RHAG_BCL2L1_chr20_30309458_ENST00000376062_RHAG_chr6_49583484_ENST00000229810_length(amino acids)=388AA_BP=201
MDNGLVEPIPIIKMSQSNRELVVDFLSYKLSQKGYSWSQFSDVEENRTEAPEGTESEMETPSAINGNPSWHLADSPAVNGATGHSSSLDA
REVIPMAAVKQALREAGDEFELRYRRAFSDLTSQLHITPGTAYQSFEQVVNELFRDGVNWGRIVAFFSFGGALCVESVDKEMQVLVSRIA
AWMATYLNDHLEPWIQENGGWASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPG
DKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTVYGHAGSC

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

>9377_9377_2_BCL2L1-RHAG_BCL2L1_chr20_30309458_ENST00000376062_RHAG_chr6_49583484_ENST00000371175_length(amino acids)=446AA_BP=201
MDNGLVEPIPIIKMSQSNRELVVDFLSYKLSQKGYSWSQFSDVEENRTEAPEGTESEMETPSAINGNPSWHLADSPAVNGATGHSSSLDA
REVIPMAAVKQALREAGDEFELRYRRAFSDLTSQLHITPGTAYQSFEQVVNELFRDGVNWGRIVAFFSFGGALCVESVDKEMQVLVSRIA
AWMATYLNDHLEPWIQENGGWASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPG
DKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLR

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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/chr20:30309458/chr6:49583484)
- 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
BCL2L1

Q9BZR8

.
FUNCTION: Plays a role in 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
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000307677-23129_148188.0234.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000307677-234_24188.0234.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000307677-2386_100188.0234.0MotifNote=BH3
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376062-12129_148188.0234.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376062-124_24188.0234.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376062-1286_100188.0234.0MotifNote=BH3
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000420653-23129_148188.0234.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000420653-234_24188.0234.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000420653-2386_100188.0234.0MotifNote=BH3
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029164_167164.0290.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029189_208164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029230_239164.0290.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029261_268164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029292_295164.0290.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029319_332164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029354_362164.0290.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029384_409164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210164_167164.0410.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210189_208164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210230_239164.0410.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210261_268164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210292_295164.0410.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210319_332164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210354_362164.0410.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210384_409164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029168_188164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029209_229164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029240_260164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029269_291164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029296_318164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029333_353164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029363_383164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210168_188164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210209_229164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210240_260164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210269_291164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210296_318164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210333_353164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210363_383164.0410.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000307677-23180_195188.0234.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376055-13129_1480171.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376055-13180_1950171.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376055-134_240171.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376055-1386_1000171.0MotifNote=BH3
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376062-12180_195188.0234.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000420653-23180_195188.0234.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000307677-23210_226188.0234.0TransmembraneHelical
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376055-13210_2260171.0TransmembraneHelical
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000376062-12210_226188.0234.0TransmembraneHelical
HgeneBCL2L1chr20:30309458chr6:49583484ENST00000420653-23210_226188.0234.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029101_113164.0290.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029135_142164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST00000229810291_2164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST000002298102924_51164.0290.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST000002298102973_79164.0290.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210101_113164.0410.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210135_142164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST000003711752101_2164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST0000037117521024_51164.0410.0Topological domainExtracellular
TgeneRHAGchr20:30309458chr6:49583484ENST0000037117521073_79164.0410.0Topological domainCytoplasmic
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029114_134164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000022981029143_163164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000229810293_23164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST000002298102952_72164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST000002298102980_100164.0290.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210114_134164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST00000371175210143_163164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST000003711752103_23164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000037117521052_72164.0410.0TransmembraneHelical
TgeneRHAGchr20:30309458chr6:49583484ENST0000037117521080_100164.0410.0TransmembraneHelical


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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
BCL2L1
RHAG


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 BCL2L1-RHAG


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 BCL2L1-RHAG


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