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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:HIRA-BCL2L13 (FusionGDB2 ID:36429)

Fusion Gene Summary for HIRA-BCL2L13

check button Fusion gene summary
Fusion gene informationFusion gene name: HIRA-BCL2L13
Fusion gene ID: 36429
HgeneTgene
Gene symbol

HIRA

BCL2L13

Gene ID

7290

23786

Gene namehistone cell cycle regulatorBCL2 like 13
SynonymsDGCR1|TUP1|TUPLE1BCL-RAMBO|Bcl2-L-13|MIL1
Cytomap

22q11.21

22q11.21

Type of geneprotein-codingprotein-coding
Descriptionprotein HIRADiGeorge critical region gene 1HIR histone cell cycle regulation defective homolog ATUP1-like enhancer of split protein 1histone regulator Abcl-2-like protein 13BCL2-like 13 (apoptosis facilitator)
Modification date2020031320200313
UniProtAcc

P54198

Q9BXK5

Ensembl transtripts involved in fusion geneENST00000263208, ENST00000340170, 
ENST00000464189, ENST00000541063, 
ENST00000546308, 		ENST00000418951, 
ENST00000485631, ENST00000317582, 
ENST00000337612, ENST00000355028, 
ENST00000399782, ENST00000493680, 
ENST00000538149, ENST00000543133, 
Fusion gene scores* DoF score18 X 15 X 9=243016 X 18 X 8=2304
# samples 2320
** MAII scorelog2(23/2430*10)=-3.40125054754877
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/2304*10)=-3.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointHIRA(19418963)-BCL2L13(18209443), # samples:2
HIRA(19418962)-BCL2L13(18209442), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneHIRA

GO:0006336

DNA replication-independent nucleosome assembly

14718166


check buttonFusion gene breakpoints across HIRA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BCL2L13 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4HNSCTCGA-CV-7255-01AHIRAchr22

19418963

-BCL2L13chr22

18209443

+
ChimerDB4HNSCTCGA-CV-7255HIRAchr22

19418962

-BCL2L13chr22

18209442

+


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Fusion Gene ORF analysis for HIRA-BCL2L13

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000263208ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000263208ENST00000418951HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-3UTRENST00000263208ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000263208ENST00000485631HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-3UTRENST00000340170ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000340170ENST00000418951HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-3UTRENST00000340170ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000340170ENST00000485631HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000317582HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000337612HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000355028HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000399782HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000493680HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000538149HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000263208ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000543133HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000317582HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000337612HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000355028HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000399782HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000493680HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000538149HIRAchr22

19418962

-BCL2L13chr22

18209442

+
5CDS-intronENST00000340170ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000543133HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-3UTRENST00000464189ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000464189ENST00000418951HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-3UTRENST00000464189ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000464189ENST00000485631HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-3UTRENST00000541063ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000541063ENST00000418951HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-3UTRENST00000541063ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000541063ENST00000485631HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-3UTRENST00000546308ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000546308ENST00000418951HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-3UTRENST00000546308ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000546308ENST00000485631HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000317582HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000337612HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000355028HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000399782HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000493680HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000538149HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000464189ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000543133HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000317582HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000337612HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000355028HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000399782HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000493680HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000538149HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000541063ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000543133HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000317582HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000337612HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000355028HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000399782HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000493680HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000538149HIRAchr22

19418962

-BCL2L13chr22

18209442

+
intron-intronENST00000546308ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000543133HIRAchr22

19418962

-BCL2L13chr22

18209442

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for HIRA-BCL2L13


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
HIRAchr2219418962-BCL2L13chr2218209442+1.47E-060.99999857
HIRAchr2219418962-BCL2L13chr2218209442+1.47E-060.99999857
HIRAchr2219418962-BCL2L13chr2218209442+1.47E-060.99999857
HIRAchr2219418962-BCL2L13chr2218209442+1.47E-060.99999857

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for HIRA-BCL2L13


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/:19418963/:18209443)
- 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
HIRA

P54198

BCL2L13

Q9BXK5

FUNCTION: Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the periodic repression of histone gene transcription during the cell cycle. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. {ECO:0000269|PubMed:12370293, ECO:0000269|PubMed:14718166, ECO:0000269|PubMed:15621527}.FUNCTION: May promote the activation of caspase-3 and 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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for HIRA-BCL2L13


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for HIRA-BCL2L13


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for HIRA-BCL2L13


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HIRA-BCL2L13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource