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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 16218

FusionGeneSummary for HIRA_BCL2L13

check button Fusion gene summary
Fusion gene informationFusion gene name: HIRA_BCL2L13
Fusion gene ID: 16218
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 1bcl-2-like protein 13BCL2-like 13 (apoptosis facilitator)
Modification date2018052320180523
UniProtAcc

P54198

Q9BXK5

Ensembl transtripts involved in fusion geneENST00000340170, ENST00000263208, 
ENST00000541063, ENST00000546308, 
ENST00000464189, 		ENST00000399782, 
ENST00000317582, ENST00000543133, 
ENST00000538149, ENST00000337612, 
ENST00000493680, ENST00000355028, 
ENST00000418951, ENST00000485631, 
Fusion gene scores* DoF score11 X 11 X 6=7267 X 7 X 5=245
# samples 138
** MAII scorelog2(13/726*10)=-2.4814579249673
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/245*10)=-1.61470984411521
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-CV-7255-01AHIRAchr22

19418963

-BCL2L13chr22

18209443

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-intronENST00000340170ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000340170ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000340170ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000340170ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-intronENST00000263208ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000263208ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
5CDS-3UTRENST00000263208ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000541063ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000541063ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000541063ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000546308ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000546308ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000546308ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000399782HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000317582HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000543133HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000538149HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000337612HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000493680HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-intronENST00000464189ENST00000355028HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000464189ENST00000418951HIRAchr22

19418963

-BCL2L13chr22

18209443

+
intron-3UTRENST00000464189ENST00000485631HIRAchr22

19418963

-BCL2L13chr22

18209443

+

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FusionProtFeatures for HIRA_BCL2L13


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIRA

P54198

BCL2L13

Q9BXK5

Cooperates with ASF1A to promote replication-independentchromatin assembly. Required for the periodic repression ofhistone gene transcription during the cell cycle. Required for theformation of senescence-associated heterochromatin foci (SAHF) andefficient senescence-associated cell cycle exit.{ECO:0000269|PubMed:12370293, ECO:0000269|PubMed:14718166,ECO:0000269|PubMed:15621527}. 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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FusionGeneSequence for HIRA_BCL2L13


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
HIRAUPF1, NFU1, HIRIP3, HIST1H2BK, HIST1H2BD, H3F3A, ASF1A, ASF1B, MEF2D, CABIN1, DNAJA2, UBN1, POLR2A, ELAVL1, HIST1H4F, HIST2H3C, HNRNPD, PML, CUL3, MOV10, NXF1, UBE2I, HIST1H3A, MEF2A, FOXK2, NFATC2, TFAP4, CDX1, XAGE1B, TEAD2, SP4, ZBTB48, MECP2, TRIM25BCL2L13GABARAPL2, APP, NINJ2, UPK1B, VAMP4, VAMP3, BET1, PLLP, TMUB2, TMEM128, TMEM86B, SOD1, SLC7A1, MTNR1B


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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RelatedDrugs for HIRA_BCL2L13


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for HIRA_BCL2L13


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