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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:HM13-BCL2L1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HM13-BCL2L1
FusionPDB ID: 36744
FusionGDB2.0 ID: 36744
HgeneTgene
Gene symbol

HM13

BCL2L1

Gene ID

81502

598

Gene namehistocompatibility minor 13BCL2 like 1
SynonymsH13|IMP1|IMPAS|IMPAS-1|MSTP086|PSENL3|PSL3|SPP|SPPL1BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52
Cytomap

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionminor histocompatibility antigen H13intramembrane protease 1minor histocompatibility antigen 13presenilin-like protein 3signal peptide peptidase betasignal peptide peptidase like 1bcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52
Modification date2020031320200327
UniProtAcc

Q8TCT9

Q9BZR8

Ensembl transtripts involved in fusion geneENST idsENST00000492709, ENST00000335574, 
ENST00000340852, ENST00000376127, 
ENST00000398174, 		ENST00000307677, 
ENST00000376055, ENST00000376062, 
ENST00000420653, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 11 X 7=92410 X 5 X 10=500
# samples 1311
** MAII scorelog2(13/924*10)=-2.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/500*10)=-2.18442457113743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: HM13 [Title/Abstract] AND BCL2L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HM13(30126064)-BCL2L1(30253889), # samples:2
Anticipated loss of major functional domain due to fusion event.HM13-BCL2L1 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.
HM13-BCL2L1 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.
HM13-BCL2L1 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.
HM13-BCL2L1 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.
HM13-BCL2L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HM13-BCL2L1 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
HgeneHM13

GO:0033619

membrane protein proteolysis

14741365

TgeneBCL2L1

GO:0001836

release of cytochrome c from mitochondria

9843949

TgeneBCL2L1

GO:0019050

suppression by virus of host apoptotic process

15231831

TgeneBCL2L1

GO:0034097

response to cytokine

9184696

TgeneBCL2L1

GO:0043066

negative regulation of apoptotic process

7650367|9388232

TgeneBCL2L1

GO:0046902

regulation of mitochondrial membrane permeability

9843949

TgeneBCL2L1

GO:0051881

regulation of mitochondrial membrane potential

9843949

TgeneBCL2L1

GO:1900118

negative regulation of execution phase of apoptosis

20673843

TgeneBCL2L1

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

26582200

TgeneBCL2L1

GO:1902230

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

16608847

TgeneBCL2L1

GO:1902236

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

29507230

TgeneBCL2L1

GO:1903077

negative regulation of protein localization to plasma membrane

21041309

TgeneBCL2L1

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

12011449


check buttonFusion gene breakpoints across HM13 (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 BCL2L1 (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
ChimerDB4BLCATCGA-GC-A3I6-01AHM13chr20

30115385

+BCL2L1chr20

30253889

-
ChimerDB4BLCATCGA-GC-A3I6-01AHM13chr20

30126064

+BCL2L1chr20

30253889

-
ChimerDB4BLCATCGA-GC-A3I6HM13chr20

30126064

+BCL2L1chr20

30253889

-


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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)
ENST00000398174HM13chr2030126064+ENST00000307677BCL2L1chr2030253889-212448947637196
ENST00000340852HM13chr2030126064+ENST00000307677BCL2L1chr2030253889-212448947637196
ENST00000335574HM13chr2030126064+ENST00000307677BCL2L1chr2030253889-212448947637196
ENST00000376127HM13chr2030126064+ENST00000307677BCL2L1chr2030253889-209345816606196
ENST00000398174HM13chr2030115385+ENST00000376062BCL2L1chr2030253889-204140612851869194
ENST00000340852HM13chr2030115385+ENST00000376062BCL2L1chr2030253889-204140612851869194
ENST00000335574HM13chr2030115385+ENST00000376062BCL2L1chr2030253889-204140612851869194
ENST00000376127HM13chr2030115385+ENST00000376062BCL2L1chr2030253889-201037512541838194

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
ENST00000398174ENST00000307677HM13chr2030126064+BCL2L1chr2030253889-0.41507670.58492327
ENST00000340852ENST00000307677HM13chr2030126064+BCL2L1chr2030253889-0.41507670.58492327
ENST00000335574ENST00000307677HM13chr2030126064+BCL2L1chr2030253889-0.41507670.58492327
ENST00000376127ENST00000307677HM13chr2030126064+BCL2L1chr2030253889-0.360830040.63916993
ENST00000398174ENST00000376062HM13chr2030115385+BCL2L1chr2030253889-0.43325880.56674117
ENST00000340852ENST00000376062HM13chr2030115385+BCL2L1chr2030253889-0.43325880.56674117
ENST00000335574ENST00000376062HM13chr2030115385+BCL2L1chr2030253889-0.43325880.56674117
ENST00000376127ENST00000376062HM13chr2030115385+BCL2L1chr2030253889-0.363059730.6369403

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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

>36744_36744_1_HM13-BCL2L1_HM13_chr20_30115385_ENST00000335574_BCL2L1_chr20_30253889_ENST00000376062_length(amino acids)=194AA_BP=
MAPMTILRDQLGPRQMPQSCLWPQLPHFLQEQPVASLPWAAPHGGFRGLSPEVKGSYQEQLWEPQGLPYLRQEGQEGEPAAWGGVGLTRR
ASPAWPGRSVPHACPAWAARLPRPEWPGQELFRPPSLFCSTLGLSHPQGSQPPRALCCTYLRLVFIPCEDDILFLLSVSVFMCEELLACS

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

>36744_36744_2_HM13-BCL2L1_HM13_chr20_30115385_ENST00000340852_BCL2L1_chr20_30253889_ENST00000376062_length(amino acids)=194AA_BP=
MAPMTILRDQLGPRQMPQSCLWPQLPHFLQEQPVASLPWAAPHGGFRGLSPEVKGSYQEQLWEPQGLPYLRQEGQEGEPAAWGGVGLTRR
ASPAWPGRSVPHACPAWAARLPRPEWPGQELFRPPSLFCSTLGLSHPQGSQPPRALCCTYLRLVFIPCEDDILFLLSVSVFMCEELLACS

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

>36744_36744_3_HM13-BCL2L1_HM13_chr20_30115385_ENST00000376127_BCL2L1_chr20_30253889_ENST00000376062_length(amino acids)=194AA_BP=
MAPMTILRDQLGPRQMPQSCLWPQLPHFLQEQPVASLPWAAPHGGFRGLSPEVKGSYQEQLWEPQGLPYLRQEGQEGEPAAWGGVGLTRR
ASPAWPGRSVPHACPAWAARLPRPEWPGQELFRPPSLFCSTLGLSHPQGSQPPRALCCTYLRLVFIPCEDDILFLLSVSVFMCEELLACS

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

>36744_36744_4_HM13-BCL2L1_HM13_chr20_30115385_ENST00000398174_BCL2L1_chr20_30253889_ENST00000376062_length(amino acids)=194AA_BP=
MAPMTILRDQLGPRQMPQSCLWPQLPHFLQEQPVASLPWAAPHGGFRGLSPEVKGSYQEQLWEPQGLPYLRQEGQEGEPAAWGGVGLTRR
ASPAWPGRSVPHACPAWAARLPRPEWPGQELFRPPSLFCSTLGLSHPQGSQPPRALCCTYLRLVFIPCEDDILFLLSVSVFMCEELLACS

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

>36744_36744_5_HM13-BCL2L1_HM13_chr20_30126064_ENST00000335574_BCL2L1_chr20_30253889_ENST00000307677_length(amino acids)=196AA_BP=141
MQSRCLRLRPCCSNRSWSRIPNAPSPWTRPSAIRITAVPRQAAPPTALRGRLPRPRASRWPTAASCSWRCCPSSSAPCAPYAAPAARMLQ
TCLKQSPAGMPPASPSSPAAHSWGSTSFSKYSPRSTSTSCCPCISSCWESWPCPTPSGYFCGTLWEQCSSREPKGPGTLQPLVPDGHDCG

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

>36744_36744_6_HM13-BCL2L1_HM13_chr20_30126064_ENST00000340852_BCL2L1_chr20_30253889_ENST00000307677_length(amino acids)=196AA_BP=141
MQSRCLRLRPCCSNRSWSRIPNAPSPWTRPSAIRITAVPRQAAPPTALRGRLPRPRASRWPTAASCSWRCCPSSSAPCAPYAAPAARMLQ
TCLKQSPAGMPPASPSSPAAHSWGSTSFSKYSPRSTSTSCCPCISSCWESWPCPTPSGYFCGTLWEQCSSREPKGPGTLQPLVPDGHDCG

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

>36744_36744_7_HM13-BCL2L1_HM13_chr20_30126064_ENST00000376127_BCL2L1_chr20_30253889_ENST00000307677_length(amino acids)=196AA_BP=141
MQSRCLRLRPCCSNRSWSRIPNAPSPWTRPSAIRITAVPRQAAPPTALRGRLPRPRASRWPTAASCSWRCCPSSSAPCAPYAAPAARMLQ
TCLKQSPAGMPPASPSSPAAHSWGSTSFSKYSPRSTSTSCCPCISSCWESWPCPTPSGYFCGTLWEQCSSREPKGPGTLQPLVPDGHDCG

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

>36744_36744_8_HM13-BCL2L1_HM13_chr20_30126064_ENST00000398174_BCL2L1_chr20_30253889_ENST00000307677_length(amino acids)=196AA_BP=141
MQSRCLRLRPCCSNRSWSRIPNAPSPWTRPSAIRITAVPRQAAPPTALRGRLPRPRASRWPTAASCSWRCCPSSSAPCAPYAAPAARMLQ
TCLKQSPAGMPPASPSSPAAHSWGSTSFSKYSPRSTSTSCCPCISSCWESWPCPTPSGYFCGTLWEQCSSREPKGPGTLQPLVPDGHDCG

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

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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/chr20:30126064/chr20:30253889)
- 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
HM13

Q8TCT9

BCL2L1

Q9BZR8

FUNCTION: Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity). {ECO:0000250|UniProtKB:Q9D8V0, ECO:0000269|PubMed:11714810, ECO:0000269|PubMed:12077416, ECO:0000269|PubMed:12145199, ECO:0000269|PubMed:14741365, ECO:0000269|PubMed:25239945}.FUNCTION: Plays a role in apoptosis.

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
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+2131_3194.0442.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+21353_7794.0442.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+2121_3194.0378.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+21253_7794.0378.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+2111_3194.0336.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+21153_7794.0336.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+2131_3194.0427.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+21353_7794.0427.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+3131_31121.66666666666667442.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+31353_77121.66666666666667442.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+31399_100121.66666666666667442.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+3121_31121.66666666666667378.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+31253_77121.66666666666667378.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+31299_100121.66666666666667378.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+3111_31121.66666666666667336.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+31153_77121.66666666666667336.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+31199_100121.66666666666667336.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+3131_31121.66666666666667427.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+31353_77121.66666666666667427.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+31399_100121.66666666666667427.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+21332_5294.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+21232_5294.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+21132_5294.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+21332_5294.0427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313101_121121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+31332_52121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+31378_98121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312101_121121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+31232_52121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+31278_98121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311101_121121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+31132_52121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+31178_98121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313101_121121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+31332_52121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+31378_98121.66666666666667427.0TransmembraneHelical
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000037605513129_148125.0171.0MotifNote=BH1
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000037605513180_195125.0171.0MotifNote=BH2
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000037605513129_148125.0171.0MotifNote=BH1
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000037605513180_195125.0171.0MotifNote=BH2
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000030767713210_226188.0234.0TransmembraneHelical
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000037605513210_226125.0171.0TransmembraneHelical
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000037606202210_226188.0234.0TransmembraneHelical
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000042065313210_226188.0234.0TransmembraneHelical
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000030767713210_226188.0234.0TransmembraneHelical
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000037605513210_226125.0171.0TransmembraneHelical
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000037606202210_226188.0234.0TransmembraneHelical
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000042065313210_226188.0234.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213317_31994.0442.0MotifNote=PAL
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212317_31994.0378.0MotifNote=PAL
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211317_31994.0336.0MotifNote=PAL
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213317_31994.0427.0MotifNote=PAL
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313317_319121.66666666666667442.0MotifNote=PAL
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312317_319121.66666666666667378.0MotifNote=PAL
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311317_319121.66666666666667336.0MotifNote=PAL
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313317_319121.66666666666667427.0MotifNote=PAL
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213122_15794.0442.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213179_18194.0442.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213203_20994.0442.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213231_25694.0442.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213278_29094.0442.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213312_31494.0442.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213336_37794.0442.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+21399_10094.0442.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212122_15794.0378.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212179_18194.0378.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212203_20994.0378.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212231_25694.0378.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212278_29094.0378.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212312_31494.0378.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212336_37794.0378.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+21299_10094.0378.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211122_15794.0336.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211179_18194.0336.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211203_20994.0336.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211231_25694.0336.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211278_29094.0336.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211312_31494.0336.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211336_37794.0336.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+21199_10094.0336.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213122_15794.0427.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213179_18194.0427.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213203_20994.0427.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213231_25694.0427.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213278_29094.0427.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213312_31494.0427.0Topological domainLumenal
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213336_37794.0427.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+21399_10094.0427.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313122_157121.66666666666667442.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313179_181121.66666666666667442.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313203_209121.66666666666667442.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313231_256121.66666666666667442.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313278_290121.66666666666667442.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313312_314121.66666666666667442.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313336_377121.66666666666667442.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312122_157121.66666666666667378.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312179_181121.66666666666667378.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312203_209121.66666666666667378.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312231_256121.66666666666667378.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312278_290121.66666666666667378.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312312_314121.66666666666667378.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312336_377121.66666666666667378.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311122_157121.66666666666667336.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311179_181121.66666666666667336.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311203_209121.66666666666667336.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311231_256121.66666666666667336.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311278_290121.66666666666667336.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311312_314121.66666666666667336.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311336_377121.66666666666667336.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313122_157121.66666666666667427.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313179_181121.66666666666667427.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313203_209121.66666666666667427.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313231_256121.66666666666667427.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313278_290121.66666666666667427.0Topological domainCytoplasmic
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313312_314121.66666666666667427.0Topological domainLumenal
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313336_377121.66666666666667427.0Topological domainCytoplasmic
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213101_12194.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213158_17894.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213182_20294.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213210_23094.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213257_27794.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213291_31194.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+213315_33594.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000335574+21378_9894.0442.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212101_12194.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212158_17894.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212182_20294.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212210_23094.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212257_27794.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212291_31194.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+212315_33594.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000340852+21278_9894.0378.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211101_12194.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211158_17894.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211182_20294.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211210_23094.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211257_27794.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211291_31194.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+211315_33594.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000376127+21178_9894.0336.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213101_12194.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213158_17894.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213182_20294.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213210_23094.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213257_27794.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213291_31194.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+213315_33594.0427.0TransmembraneHelical
HgeneHM13chr20:30115385chr20:30253889ENST00000398174+21378_9894.0427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313158_178121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313182_202121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313210_230121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313257_277121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313291_311121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000335574+313315_335121.66666666666667442.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312158_178121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312182_202121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312210_230121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312257_277121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312291_311121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000340852+312315_335121.66666666666667378.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311158_178121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311182_202121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311210_230121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311257_277121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311291_311121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000376127+311315_335121.66666666666667336.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313158_178121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313182_202121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313210_230121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313257_277121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313291_311121.66666666666667427.0TransmembraneHelical
HgeneHM13chr20:30126064chr20:30253889ENST00000398174+313315_335121.66666666666667427.0TransmembraneHelical
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000030767713129_148188.0234.0MotifNote=BH1
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000030767713180_195188.0234.0MotifNote=BH2
TgeneBCL2L1chr20:30115385chr20:30253889ENST00000307677134_24188.0234.0MotifNote=BH4
TgeneBCL2L1chr20:30115385chr20:30253889ENST000003076771386_100188.0234.0MotifNote=BH3
TgeneBCL2L1chr20:30115385chr20:30253889ENST00000376055134_24125.0171.0MotifNote=BH4
TgeneBCL2L1chr20:30115385chr20:30253889ENST000003760551386_100125.0171.0MotifNote=BH3
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000037606202129_148188.0234.0MotifNote=BH1
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000037606202180_195188.0234.0MotifNote=BH2
TgeneBCL2L1chr20:30115385chr20:30253889ENST00000376062024_24188.0234.0MotifNote=BH4
TgeneBCL2L1chr20:30115385chr20:30253889ENST000003760620286_100188.0234.0MotifNote=BH3
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000042065313129_148188.0234.0MotifNote=BH1
TgeneBCL2L1chr20:30115385chr20:30253889ENST0000042065313180_195188.0234.0MotifNote=BH2
TgeneBCL2L1chr20:30115385chr20:30253889ENST00000420653134_24188.0234.0MotifNote=BH4
TgeneBCL2L1chr20:30115385chr20:30253889ENST000004206531386_100188.0234.0MotifNote=BH3
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000030767713129_148188.0234.0MotifNote=BH1
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000030767713180_195188.0234.0MotifNote=BH2
TgeneBCL2L1chr20:30126064chr20:30253889ENST00000307677134_24188.0234.0MotifNote=BH4
TgeneBCL2L1chr20:30126064chr20:30253889ENST000003076771386_100188.0234.0MotifNote=BH3
TgeneBCL2L1chr20:30126064chr20:30253889ENST00000376055134_24125.0171.0MotifNote=BH4
TgeneBCL2L1chr20:30126064chr20:30253889ENST000003760551386_100125.0171.0MotifNote=BH3
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000037606202129_148188.0234.0MotifNote=BH1
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000037606202180_195188.0234.0MotifNote=BH2
TgeneBCL2L1chr20:30126064chr20:30253889ENST00000376062024_24188.0234.0MotifNote=BH4
TgeneBCL2L1chr20:30126064chr20:30253889ENST000003760620286_100188.0234.0MotifNote=BH3
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000042065313129_148188.0234.0MotifNote=BH1
TgeneBCL2L1chr20:30126064chr20:30253889ENST0000042065313180_195188.0234.0MotifNote=BH2
TgeneBCL2L1chr20:30126064chr20:30253889ENST00000420653134_24188.0234.0MotifNote=BH4
TgeneBCL2L1chr20:30126064chr20:30253889ENST000004206531386_100188.0234.0MotifNote=BH3


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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 >>>253_HM13_30126064_BCL2L1_30253889_ranked_0.pdbHM133011538530126064ENST00000376062BCL2L1chr2030253889-
MQSRCLRLRPCCSNRSWSRIPNAPSPWTRPSAIRITAVPRQAAPPTALRGRLPRPRASRWPTAASCSWRCCPSSSAPCAPYAAPAARMLQ
TCLKQSPAGMPPASPSSPAAHSWGSTSFSKYSPRSTSTSCCPCISSCWESWPCPTPSGYFCGTLWEQCSSREPKGPGTLQPLVPDGHDCG
196


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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.
HM13_pLDDT.png
all structure
all structure
BCL2L1_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
HM13
BCL2L1


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 HM13-BCL2L1


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 HM13-BCL2L1


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