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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:BCOR-L3MBTL2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BCOR-L3MBTL2
FusionPDB ID: 9494
FusionGDB2.0 ID: 9494
HgeneTgene
Gene symbol

BCOR

L3MBTL2

Gene ID

54880

83746

Gene nameBCL6 corepressorL3MBTL histone methyl-lysine binding protein 2
SynonymsANOP2|MAA2|MCOPS2H-l(3)mbt-l|L3MBT
Cytomap

Xp11.4

22q13.2

Type of geneprotein-codingprotein-coding
DescriptionBCL-6 corepressorBCL-6 coreceptorBCL-6 interacting corepressorBCL6 interacting corepressorlethal(3)malignant brain tumor-like protein 2H-l(3)mbt-like protein 2L(3)mbt-like protein 2L3MBTL2, polycomb repressive complex 1 subunitl(3)mbt-like 2
Modification date2020032820200313
UniProtAcc

Q5H9F3

Q969R5

Ensembl transtripts involved in fusion geneENST idsENST00000342274, ENST00000378444, 
ENST00000378455, ENST00000397354, 
ENST00000378463, 
ENST00000489136, 
ENST00000216237, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 15 X 7=11553 X 8 X 4=96
# samples 127
** MAII scorelog2(12/1155*10)=-3.2667865406949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/96*10)=-0.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BCOR [Title/Abstract] AND L3MBTL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BCOR(39931602)-L3MBTL2(41605700), # samples:3
Anticipated loss of major functional domain due to fusion event.BCOR-L3MBTL2 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.
BCOR-L3MBTL2 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.
BCOR-L3MBTL2 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.
BCOR-L3MBTL2 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.
BCOR-L3MBTL2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
BCOR-L3MBTL2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BCOR-L3MBTL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BCOR-L3MBTL2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BCOR-L3MBTL2 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
HgeneBCOR

GO:0035518

histone H2A monoubiquitination

16943429

HgeneBCOR

GO:0045892

negative regulation of transcription, DNA-templated

10898795


check buttonFusion gene breakpoints across BCOR (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 L3MBTL2 (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
ChimerDB4LGGTCGA-DU-6404-01ABCORchrX

39931601

-L3MBTL2chr22

41605699

+
ChimerDB4LGGTCGA-DU-6404-01ABCORchrX

39931602

-L3MBTL2chr22

41601255

+
ChimerDB4LGGTCGA-DU-6404-01ABCORchrX

39931602

-L3MBTL2chr22

41605700

+
ChimerDB4LGGTCGA-DU-6404-02BBCORchrX

39931602

-L3MBTL2chr22

41605700

+
ChimerDB4LGGTCGA-DU-6404BCORchrX

39931602

-L3MBTL2chr22

41601255

+
ChimerDB4LGGTCGA-DU-6404BCORchrX

39931602

-L3MBTL2chr22

41605700

+


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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)
ENST00000397354BCORchrX39931602-ENST00000216237L3MBTL2chr2241605700+6340322622953191696
ENST00000378444BCORchrX39931602-ENST00000216237L3MBTL2chr2241605700+6340322622953191696
ENST00000397354BCORchrX39931601-ENST00000216237L3MBTL2chr2241605699+6340322622953191696
ENST00000378444BCORchrX39931601-ENST00000216237L3MBTL2chr2241605699+6340322622953191696

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
ENST00000397354ENST00000216237BCORchrX39931602-L3MBTL2chr2241605700+0.0008087880.9991912
ENST00000378444ENST00000216237BCORchrX39931602-L3MBTL2chr2241605700+0.0008087880.9991912
ENST00000397354ENST00000216237BCORchrX39931601-L3MBTL2chr2241605699+0.0008087880.9991912
ENST00000378444ENST00000216237BCORchrX39931601-L3MBTL2chr2241605699+0.0008087880.9991912

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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

>9494_9494_1_BCOR-L3MBTL2_BCOR_chrX_39931601_ENST00000378444_L3MBTL2_chr22_41605699_ENST00000216237_length(amino acids)=1696AA_BP=999
MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAALSMDRTGLIREGLRVPGNIVY
SSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLN
INGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTNGERFLYLPPPHYVGPHIPSSLASPMRLSTP
SASPAIPPLVHCADKSLPWKMGVSPGNPVDSHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKH
YARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKDGSSPPLLEKQTVTKDVTDKPLDLSSKVVDV
DASKADHMKKMAPTVLVHSRAGSGLVLSGSEIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQR
SSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQPPATPAKHSSSTSSKGAKASNPEPSFKANE
NGLPPSSIFLSPNEAFRSPPIPYPRSYLPYPAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDAL
GLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVPTDKNLKPNPNWNQGKTVVKSDKLVYVDLLR
EEPDAKTDTNVSKPSFAAESVGQSAEPPKPSVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPF
LEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPSKLAKRIANSAGYVGDRFKCVTTELYADSSQ
LSREQRALQETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDREAGELPTSPLHLLSPGTPRSLDGSGSEPAV
CEMCGIVGTREAFFSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGF
DWGKFLKDHSYKAAPVSCFKHVPLYDQWEDVMKGMKVEVLNSDAVLPSRVYWIASVIQTAGYRVLLRYEGFENDASHDFWCNLGTVDVHP
IGWCAINSKILVPPRTIHAKFTDWKGYLMKRLVGSRTLPVDFHIKMVESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYED
GDSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRAVYTEGGWFEEGMKLEAIDPLNLGNICVAT
VCKVLLDGYLMICVDGGPSTDGLDWFCYHASSHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSRLFNMDCPNHGFKVG
MKLEAVDLMEPRLICVATVKRVVHRLLSIHFDGWDSEYDQWVDCESPDIYPVGWCELTGYQLQPPVAAEPATPLKAKEATKKKKKQFGKK

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

>9494_9494_2_BCOR-L3MBTL2_BCOR_chrX_39931601_ENST00000397354_L3MBTL2_chr22_41605699_ENST00000216237_length(amino acids)=1696AA_BP=999
MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAALSMDRTGLIREGLRVPGNIVY
SSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLN
INGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTNGERFLYLPPPHYVGPHIPSSLASPMRLSTP
SASPAIPPLVHCADKSLPWKMGVSPGNPVDSHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKH
YARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKDGSSPPLLEKQTVTKDVTDKPLDLSSKVVDV
DASKADHMKKMAPTVLVHSRAGSGLVLSGSEIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQR
SSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQPPATPAKHSSSTSSKGAKASNPEPSFKANE
NGLPPSSIFLSPNEAFRSPPIPYPRSYLPYPAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDAL
GLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVPTDKNLKPNPNWNQGKTVVKSDKLVYVDLLR
EEPDAKTDTNVSKPSFAAESVGQSAEPPKPSVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPF
LEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPSKLAKRIANSAGYVGDRFKCVTTELYADSSQ
LSREQRALQETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDREAGELPTSPLHLLSPGTPRSLDGSGSEPAV
CEMCGIVGTREAFFSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGF
DWGKFLKDHSYKAAPVSCFKHVPLYDQWEDVMKGMKVEVLNSDAVLPSRVYWIASVIQTAGYRVLLRYEGFENDASHDFWCNLGTVDVHP
IGWCAINSKILVPPRTIHAKFTDWKGYLMKRLVGSRTLPVDFHIKMVESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYED
GDSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRAVYTEGGWFEEGMKLEAIDPLNLGNICVAT
VCKVLLDGYLMICVDGGPSTDGLDWFCYHASSHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSRLFNMDCPNHGFKVG
MKLEAVDLMEPRLICVATVKRVVHRLLSIHFDGWDSEYDQWVDCESPDIYPVGWCELTGYQLQPPVAAEPATPLKAKEATKKKKKQFGKK

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

>9494_9494_3_BCOR-L3MBTL2_BCOR_chrX_39931602_ENST00000378444_L3MBTL2_chr22_41605700_ENST00000216237_length(amino acids)=1696AA_BP=999
MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAALSMDRTGLIREGLRVPGNIVY
SSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLN
INGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTNGERFLYLPPPHYVGPHIPSSLASPMRLSTP
SASPAIPPLVHCADKSLPWKMGVSPGNPVDSHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKH
YARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKDGSSPPLLEKQTVTKDVTDKPLDLSSKVVDV
DASKADHMKKMAPTVLVHSRAGSGLVLSGSEIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQR
SSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQPPATPAKHSSSTSSKGAKASNPEPSFKANE
NGLPPSSIFLSPNEAFRSPPIPYPRSYLPYPAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDAL
GLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVPTDKNLKPNPNWNQGKTVVKSDKLVYVDLLR
EEPDAKTDTNVSKPSFAAESVGQSAEPPKPSVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPF
LEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPSKLAKRIANSAGYVGDRFKCVTTELYADSSQ
LSREQRALQETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDREAGELPTSPLHLLSPGTPRSLDGSGSEPAV
CEMCGIVGTREAFFSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGF
DWGKFLKDHSYKAAPVSCFKHVPLYDQWEDVMKGMKVEVLNSDAVLPSRVYWIASVIQTAGYRVLLRYEGFENDASHDFWCNLGTVDVHP
IGWCAINSKILVPPRTIHAKFTDWKGYLMKRLVGSRTLPVDFHIKMVESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYED
GDSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRAVYTEGGWFEEGMKLEAIDPLNLGNICVAT
VCKVLLDGYLMICVDGGPSTDGLDWFCYHASSHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSRLFNMDCPNHGFKVG
MKLEAVDLMEPRLICVATVKRVVHRLLSIHFDGWDSEYDQWVDCESPDIYPVGWCELTGYQLQPPVAAEPATPLKAKEATKKKKKQFGKK

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

>9494_9494_4_BCOR-L3MBTL2_BCOR_chrX_39931602_ENST00000397354_L3MBTL2_chr22_41605700_ENST00000216237_length(amino acids)=1696AA_BP=999
MLSATPLYGNVHSWMNSERVRMCGASEDRKILVNDGDASKARLELREENPLNHNVVDASTAHRIDGLAALSMDRTGLIREGLRVPGNIVY
SSLCGLGSEKGREAATSTLGGLGFSSERNPEMQFKPNTPETVEASAVSGKPPNGFSAIYKTPPGIQKSAVATAEALGLDRPASDKQSPLN
INGASYLRLPWVNPYMEGATPAIYPFLDSPNKYSLNMYKALLPQQSYSLAQPLYSPVCTNGERFLYLPPPHYVGPHIPSSLASPMRLSTP
SASPAIPPLVHCADKSLPWKMGVSPGNPVDSHAYPHIQNSKQPRVPSAKAVTSGLPGDTALLLPPSPRPSPRVHLPTQPAADTYSEFHKH
YARISTSPSVALSKPYMTVSSEFPAARLSNGKYPKAPEGGEGAQPVPGHARKTAVQDRKDGSSPPLLEKQTVTKDVTDKPLDLSSKVVDV
DASKADHMKKMAPTVLVHSRAGSGLVLSGSEIPKETLSPPGNGCAIYRSEIISTAPSSWVVPGPSPNEENNGKSMSLKNKALDWAIPQQR
SSSCPRMGGTDAVITNVSGSVSSAGRPASASPAPNANADGTKTSRSSVETTPSVIQHVGQPPATPAKHSSSTSSKGAKASNPEPSFKANE
NGLPPSSIFLSPNEAFRSPPIPYPRSYLPYPAPEGIAVSPLSLHGKGPVYPHPVLLPNGSLFPGHLAPKPGLPYGLPTGRPEFVTYQDAL
GLGMVHPMLIPHTPIEITKEEKPERRSRSHERARYEDPTLRNRFSEILETSSTKLHPDVPTDKNLKPNPNWNQGKTVVKSDKLVYVDLLR
EEPDAKTDTNVSKPSFAAESVGQSAEPPKPSVEPALQQHRDFIALREELGRISDFHETYTFKQPVFTVSKDSVLAGTNKENLGLPVSTPF
LEPPLGSDGPAVTFGKTQEDPKPFCVGSAPPSVDVTPTYTKDGADEAESNDGKVLKPKPSKLAKRIANSAGYVGDRFKCVTTELYADSSQ
LSREQRALQETPSSEPMEEEEDDDLELFGGYDSFRSYNSSVGSESSSYLEESSEAENEDREAGELPTSPLHLLSPGTPRSLDGSGSEPAV
CEMCGIVGTREAFFSKTKRFCSVSCSRSYSSNSKKASILARLQGKPPTKKAKVLHKAAWSAKIGAFLHSQGTGQLADGTPTGQDALVLGF
DWGKFLKDHSYKAAPVSCFKHVPLYDQWEDVMKGMKVEVLNSDAVLPSRVYWIASVIQTAGYRVLLRYEGFENDASHDFWCNLGTVDVHP
IGWCAINSKILVPPRTIHAKFTDWKGYLMKRLVGSRTLPVDFHIKMVESMKYPFRQGMRLEVVDKSQVSRTRMAVVDTVIGGRLRLLYED
GDSDDDFWCHMWSPLIHPVGWSRRVGHGIKMSERRSDMAHHPTFRKIYCDAVPYLFKKVRAVYTEGGWFEEGMKLEAIDPLNLGNICVAT
VCKVLLDGYLMICVDGGPSTDGLDWFCYHASSHAIFPATFCQKNDIELTPPKGYEAQTFNWENYLEKTKSKAAPSRLFNMDCPNHGFKVG
MKLEAVDLMEPRLICVATVKRVVHRLLSIHFDGWDSEYDQWVDCESPDIYPVGWCELTGYQLQPPVAAEPATPLKAKEATKKKKKQFGKK

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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/chrX:39931602/chr22:41605700)
- 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
BCOR

Q5H9F3

L3MBTL2

Q969R5

FUNCTION: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. {ECO:0000269|PubMed:17379597}.FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27'. {ECO:0000269|PubMed:19233876}.

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
HgeneBCORchrX:39931601chr22:41605699ENST00000342274-415634_711999.01722.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931601chr22:41605699ENST00000378444-415634_711999.01756.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931601chr22:41605699ENST00000378455-414634_711999.01704.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931601chr22:41605699ENST00000397354-415634_711999.01722.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931602chr22:41605700ENST00000342274-415634_711999.01722.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931602chr22:41605700ENST00000378444-415634_711999.01756.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931602chr22:41605700ENST00000378455-414634_711999.01704.0Compositional biasNote=Pro-rich
HgeneBCORchrX:39931602chr22:41605700ENST00000397354-415634_711999.01722.0Compositional biasNote=Pro-rich
TgeneL3MBTL2chrX:39931601chr22:41605699ENST0000021623701717_208.0706.0Compositional biasNote=Poly-Glu
TgeneL3MBTL2chrX:39931601chr22:41605699ENST00000216237017620_6248.0706.0Compositional biasNote=Poly-Lys
TgeneL3MBTL2chrX:39931602chr22:41605700ENST0000021623701717_208.0706.0Compositional biasNote=Poly-Glu
TgeneL3MBTL2chrX:39931602chr22:41605700ENST00000216237017620_6248.0706.0Compositional biasNote=Poly-Lys
TgeneL3MBTL2chrX:39931601chr22:41605699ENST00000216237017179_2838.0706.0RepeatNote=MBT 1
TgeneL3MBTL2chrX:39931601chr22:41605699ENST00000216237017291_3918.0706.0RepeatNote=MBT 2
TgeneL3MBTL2chrX:39931601chr22:41605699ENST00000216237017397_5008.0706.0RepeatNote=MBT 3
TgeneL3MBTL2chrX:39931601chr22:41605699ENST00000216237017508_6048.0706.0RepeatNote=MBT 4
TgeneL3MBTL2chrX:39931602chr22:41605700ENST00000216237017179_2838.0706.0RepeatNote=MBT 1
TgeneL3MBTL2chrX:39931602chr22:41605700ENST00000216237017291_3918.0706.0RepeatNote=MBT 2
TgeneL3MBTL2chrX:39931602chr22:41605700ENST00000216237017397_5008.0706.0RepeatNote=MBT 3
TgeneL3MBTL2chrX:39931602chr22:41605700ENST00000216237017508_6048.0706.0RepeatNote=MBT 4
TgeneL3MBTL2chrX:39931601chr22:41605699ENST0000021623701781_1168.0706.0Zinc fingerFCS-type
TgeneL3MBTL2chrX:39931602chr22:41605700ENST0000021623701781_1168.0706.0Zinc fingerFCS-type

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBCORchrX:39931601chr22:41605699ENST00000342274-4151625_1631999.01722.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931601chr22:41605699ENST00000378444-4151625_1631999.01756.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931601chr22:41605699ENST00000378455-4141625_1631999.01704.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931601chr22:41605699ENST00000397354-4151625_1631999.01722.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931602chr22:41605700ENST00000342274-4151625_1631999.01722.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931602chr22:41605700ENST00000378444-4151625_1631999.01756.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931602chr22:41605700ENST00000378455-4141625_1631999.01704.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931602chr22:41605700ENST00000397354-4151625_1631999.01722.0Compositional biasNote=Poly-Asp
HgeneBCORchrX:39931601chr22:41605699ENST00000342274-4151462_1495999.01722.0RepeatNote=ANK 1
HgeneBCORchrX:39931601chr22:41605699ENST00000342274-4151496_1525999.01722.0RepeatNote=ANK 2
HgeneBCORchrX:39931601chr22:41605699ENST00000342274-4151529_1558999.01722.0RepeatNote=ANK 3
HgeneBCORchrX:39931601chr22:41605699ENST00000378444-4151462_1495999.01756.0RepeatNote=ANK 1
HgeneBCORchrX:39931601chr22:41605699ENST00000378444-4151496_1525999.01756.0RepeatNote=ANK 2
HgeneBCORchrX:39931601chr22:41605699ENST00000378444-4151529_1558999.01756.0RepeatNote=ANK 3
HgeneBCORchrX:39931601chr22:41605699ENST00000378455-4141462_1495999.01704.0RepeatNote=ANK 1
HgeneBCORchrX:39931601chr22:41605699ENST00000378455-4141496_1525999.01704.0RepeatNote=ANK 2
HgeneBCORchrX:39931601chr22:41605699ENST00000378455-4141529_1558999.01704.0RepeatNote=ANK 3
HgeneBCORchrX:39931601chr22:41605699ENST00000397354-4151462_1495999.01722.0RepeatNote=ANK 1
HgeneBCORchrX:39931601chr22:41605699ENST00000397354-4151496_1525999.01722.0RepeatNote=ANK 2
HgeneBCORchrX:39931601chr22:41605699ENST00000397354-4151529_1558999.01722.0RepeatNote=ANK 3
HgeneBCORchrX:39931602chr22:41605700ENST00000342274-4151462_1495999.01722.0RepeatNote=ANK 1
HgeneBCORchrX:39931602chr22:41605700ENST00000342274-4151496_1525999.01722.0RepeatNote=ANK 2
HgeneBCORchrX:39931602chr22:41605700ENST00000342274-4151529_1558999.01722.0RepeatNote=ANK 3
HgeneBCORchrX:39931602chr22:41605700ENST00000378444-4151462_1495999.01756.0RepeatNote=ANK 1
HgeneBCORchrX:39931602chr22:41605700ENST00000378444-4151496_1525999.01756.0RepeatNote=ANK 2
HgeneBCORchrX:39931602chr22:41605700ENST00000378444-4151529_1558999.01756.0RepeatNote=ANK 3
HgeneBCORchrX:39931602chr22:41605700ENST00000378455-4141462_1495999.01704.0RepeatNote=ANK 1
HgeneBCORchrX:39931602chr22:41605700ENST00000378455-4141496_1525999.01704.0RepeatNote=ANK 2
HgeneBCORchrX:39931602chr22:41605700ENST00000378455-4141529_1558999.01704.0RepeatNote=ANK 3
HgeneBCORchrX:39931602chr22:41605700ENST00000397354-4151462_1495999.01722.0RepeatNote=ANK 1
HgeneBCORchrX:39931602chr22:41605700ENST00000397354-4151496_1525999.01722.0RepeatNote=ANK 2
HgeneBCORchrX:39931602chr22:41605700ENST00000397354-4151529_1558999.01722.0RepeatNote=ANK 3


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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)


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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.
BCOR_pLDDT.png
all structure
all structure
L3MBTL2_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.


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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
BCORall structure
L3MBTL2


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 BCOR-L3MBTL2


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 BCOR-L3MBTL2


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
HgeneBCORC1846265Microphthalmia, syndromic 24CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneBCORC0023487Acute Promyelocytic Leukemia2ORPHANET
HgeneBCORC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneBCORC0022665Kidney Neoplasm1CTD_human
HgeneBCORC0027708Nephroblastoma1CTD_human
HgeneBCORC0029463Osteosarcoma1CTD_human
HgeneBCORC0206651Clear Cell Sarcoma of Soft Tissue1CTD_human
HgeneBCORC0206656Embryonal Rhabdomyosarcoma1CTD_human
HgeneBCORC0334488Clear cell sarcoma of kidney1ORPHANET
HgeneBCORC0740457Malignant neoplasm of kidney1CTD_human
HgeneBCORC0796016Microphthalmia, syndromic 11CTD_human;ORPHANET
HgeneBCORC2930471Bilateral Wilms Tumor1CTD_human