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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:BIRC2-TMEM123 (FusionGDB2 ID:9739)

Fusion Gene Summary for BIRC2-TMEM123

check button Fusion gene summary
Fusion gene informationFusion gene name: BIRC2-TMEM123
Fusion gene ID: 9739
HgeneTgene
Gene symbol

BIRC2

TMEM123

Gene ID

329

114908

Gene namebaculoviral IAP repeat containing 2transmembrane protein 123
SynonymsAPI1|HIAP2|Hiap-2|MIHB|RNF48|c-IAP1|cIAP1KCT3|PORIMIN|PORMIN
Cytomap

11q22.2

11q22.2

Type of geneprotein-codingprotein-coding
Descriptionbaculoviral IAP repeat-containing protein 2IAP homolog BIAP-2NFR2-TRAF signalling complex proteinRING finger protein 48RING-type E3 ubiquitin transferase BIRC2TNFR2-TRAF-signaling complex protein 2apoptosis inhibitor 1cellular inhibitor of apoptosporiminKCT-3keratinocytes associated transmembrane protein 3pro-oncosis receptor inducing membrane injuryserine/threonine-rich receptor
Modification date2020032020200313
UniProtAcc

Q13490

.
Ensembl transtripts involved in fusion geneENST00000527910, ENST00000227758, 
ENST00000530675, ENST00000532672, 
ENST00000361236, ENST00000398136, 
ENST00000525577, ENST00000532161, 
Fusion gene scores* DoF score4 X 5 X 3=6011 X 8 X 5=440
# samples 411
** MAII scorelog2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BIRC2 [Title/Abstract] AND TMEM123 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBIRC2(102239279)-TMEM123(102272937), # samples:4
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
HgeneBIRC2

GO:0000209

protein polyubiquitination

11907583

HgeneBIRC2

GO:0043066

negative regulation of apoptotic process

21525013

HgeneBIRC2

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

11907583

HgeneBIRC2

GO:0051726

regulation of cell cycle

15665297

HgeneBIRC2

GO:1902523

positive regulation of protein K63-linked ubiquitination

21931591

HgeneBIRC2

GO:1902524

positive regulation of protein K48-linked ubiquitination

21931591

HgeneBIRC2

GO:1902527

positive regulation of protein monoubiquitination

21931591

TgeneTMEM123

GO:0070267

oncosis

9600958|11481458


check buttonFusion gene breakpoints across BIRC2 (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 TMEM123 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4CESCTCGA-DS-A0VL-01ABIRC2chr11

102239278

+TMEM123chr11

102272936

-
ChimerDB4CESCTCGA-DS-A0VL-01ABIRC2chr11

102239279

-TMEM123chr11

102272937

-
ChimerDB4CESCTCGA-DS-A0VL-01ABIRC2chr11

102239279

+TMEM123chr11

102272937

-
ChimerDB4CESCTCGA-DS-A0VLBIRC2chr11

102239279

+TMEM123chr11

102272937

-


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Fusion Gene ORF analysis for BIRC2-TMEM123

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
3UTR-3CDSENST00000527910ENST00000361236BIRC2chr11

102239278

+TMEM123chr11

102272936

-
3UTR-3CDSENST00000527910ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-3CDSENST00000527910ENST00000398136BIRC2chr11

102239278

+TMEM123chr11

102272936

-
3UTR-3CDSENST00000527910ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-5UTRENST00000527910ENST00000525577BIRC2chr11

102239278

+TMEM123chr11

102272936

-
3UTR-5UTRENST00000527910ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-5UTRENST00000527910ENST00000532161BIRC2chr11

102239278

+TMEM123chr11

102272936

-
3UTR-5UTRENST00000527910ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000227758ENST00000525577BIRC2chr11

102239278

+TMEM123chr11

102272936

-
5CDS-5UTRENST00000227758ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000227758ENST00000532161BIRC2chr11

102239278

+TMEM123chr11

102272936

-
5CDS-5UTRENST00000227758ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000530675ENST00000525577BIRC2chr11

102239278

+TMEM123chr11

102272936

-
5CDS-5UTRENST00000530675ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000530675ENST00000532161BIRC2chr11

102239278

+TMEM123chr11

102272936

-
5CDS-5UTRENST00000530675ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000532672ENST00000525577BIRC2chr11

102239278

+TMEM123chr11

102272936

-
5CDS-5UTRENST00000532672ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000532672ENST00000532161BIRC2chr11

102239278

+TMEM123chr11

102272936

-
5CDS-5UTRENST00000532672ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000227758ENST00000361236BIRC2chr11

102239278

+TMEM123chr11

102272936

-
In-frameENST00000227758ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000227758ENST00000398136BIRC2chr11

102239278

+TMEM123chr11

102272936

-
In-frameENST00000227758ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000530675ENST00000361236BIRC2chr11

102239278

+TMEM123chr11

102272936

-
In-frameENST00000530675ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000530675ENST00000398136BIRC2chr11

102239278

+TMEM123chr11

102272936

-
In-frameENST00000530675ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000532672ENST00000361236BIRC2chr11

102239278

+TMEM123chr11

102272936

-
In-frameENST00000532672ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000532672ENST00000398136BIRC2chr11

102239278

+TMEM123chr11

102272936

-
In-frameENST00000532672ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-

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 BIRC2-TMEM123


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)

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.
genomic feature

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.

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Fusion Protein Features for BIRC2-TMEM123


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/chr11:102239279/chr11:102272937)
- 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
BIRC2

Q13490

.
FUNCTION: Multi-functional protein which regulates not only caspases and apoptosis, but also modulates inflammatory signaling and immunity, mitogenic kinase signaling, and cell proliferation, as well as cell invasion and metastasis. Acts as an E3 ubiquitin-protein ligase regulating NF-kappa-B signaling and regulates both canonical and non-canonical NF-kappa-B signaling by acting in opposite directions: acts as a positive regulator of the canonical pathway and suppresses constitutive activation of non-canonical NF-kappa-B signaling. The target proteins for its E3 ubiquitin-protein ligase activity include: RIPK1, RIPK2, RIPK3, RIPK4, CASP3, CASP7, CASP8, TRAF2, DIABLO/SMAC, MAP3K14/NIK, MAP3K5/ASK1, IKBKG/NEMO, IKBKE and MXD1/MAD1. Can also function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway, targeting effector caspases for neddylation and inactivation. Acts as an important regulator of innate immune signaling via regulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs) and RIG-I like receptors (RLRs), collectively referred to as pattern recognition receptors (PRRs). Protects cells from spontaneous formation of the ripoptosome, a large multi-protein complex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosome formation by ubiquitinating RIPK1 and CASP8. Can stimulate the transcriptional activity of E2F1. Plays a role in the modulation of the cell cycle. {ECO:0000269|PubMed:15665297, ECO:0000269|PubMed:18082613, ECO:0000269|PubMed:21145488, ECO:0000269|PubMed:21653699, ECO:0000269|PubMed:21931591, ECO:0000269|PubMed:23453969}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneBIRC2chr11:102239278chr11:102272936ENST00000227758+69184_250455619.0RepeatNote=BIR 2
HgeneBIRC2chr11:102239278chr11:102272936ENST00000227758+69269_336455619.0RepeatNote=BIR 3
HgeneBIRC2chr11:102239278chr11:102272936ENST00000227758+6946_113455619.0RepeatNote=BIR 1
HgeneBIRC2chr11:102239278chr11:102272936ENST00000530675+69184_250406570.0RepeatNote=BIR 2
HgeneBIRC2chr11:102239278chr11:102272936ENST00000530675+69269_336406570.0RepeatNote=BIR 3
HgeneBIRC2chr11:102239278chr11:102272936ENST00000530675+6946_113406570.0RepeatNote=BIR 1
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69184_250455619.0RepeatNote=BIR 2
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69269_336455619.0RepeatNote=BIR 3
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+6946_113455619.0RepeatNote=BIR 1
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69184_250406570.0RepeatNote=BIR 2
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69269_336406570.0RepeatNote=BIR 3
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+6946_113406570.0RepeatNote=BIR 1
TgeneTMEM123chr11:102239278chr11:102272936ENST000003612360452_15333190.0Compositional biasNote=Thr-rich
TgeneTMEM123chr11:102239278chr11:102272936ENST000003981361552_15352209.0Compositional biasNote=Thr-rich
TgeneTMEM123chr11:102239279chr11:102272937ENST000003612360452_15333190.0Compositional biasNote=Thr-rich
TgeneTMEM123chr11:102239279chr11:102272937ENST000003981361552_15352209.0Compositional biasNote=Thr-rich
TgeneTMEM123chr11:102239278chr11:102272936ENST0000036123604188_20833190.0Topological domainCytoplasmic
TgeneTMEM123chr11:102239278chr11:102272936ENST0000039813615188_20852209.0Topological domainCytoplasmic
TgeneTMEM123chr11:102239279chr11:102272937ENST0000036123604188_20833190.0Topological domainCytoplasmic
TgeneTMEM123chr11:102239279chr11:102272937ENST0000039813615188_20852209.0Topological domainCytoplasmic
TgeneTMEM123chr11:102239278chr11:102272936ENST0000036123604167_18733190.0TransmembraneHelical
TgeneTMEM123chr11:102239278chr11:102272936ENST0000039813615167_18752209.0TransmembraneHelical
TgeneTMEM123chr11:102239279chr11:102272937ENST0000036123604167_18733190.0TransmembraneHelical
TgeneTMEM123chr11:102239279chr11:102272937ENST0000039813615167_18752209.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBIRC2chr11:102239278chr11:102272936ENST00000227758+69453_543455619.0DomainCARD
HgeneBIRC2chr11:102239278chr11:102272936ENST00000530675+69453_543406570.0DomainCARD
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69453_543455619.0DomainCARD
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69453_543406570.0DomainCARD
HgeneBIRC2chr11:102239278chr11:102272936ENST00000227758+69571_606455619.0Zinc fingerRING-type
HgeneBIRC2chr11:102239278chr11:102272936ENST00000530675+69571_606406570.0Zinc fingerRING-type
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69571_606455619.0Zinc fingerRING-type
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69571_606406570.0Zinc fingerRING-type
TgeneTMEM123chr11:102239278chr11:102272936ENST000003612360427_16633190.0Topological domainExtracellular
TgeneTMEM123chr11:102239278chr11:102272936ENST000003981361527_16652209.0Topological domainExtracellular
TgeneTMEM123chr11:102239279chr11:102272937ENST000003612360427_16633190.0Topological domainExtracellular
TgeneTMEM123chr11:102239279chr11:102272937ENST000003981361527_16652209.0Topological domainExtracellular


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Fusion Gene Sequence for BIRC2-TMEM123


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 BIRC2-TMEM123


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 BIRC2-TMEM123


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 BIRC2-TMEM123


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