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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: 4178

FusionGeneSummary for BIRC2_TMEM123

check button Fusion gene summary
Fusion gene informationFusion gene name: BIRC2_TMEM123
Fusion gene ID: 4178
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 date2018052320180523
UniProtAcc

Q13490

Q8N131

Ensembl transtripts involved in fusion geneENST00000530675, ENST00000227758, 
ENST00000532672, ENST00000527910, 
ENST00000361236, ENST00000398136, 
ENST00000532161, ENST00000525577, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 4 X 2=40
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BIRC2 [Title/Abstract] AND TMEM123 [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
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 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
TCGARVCESCTCGA-DS-A0VL-01ABIRC2chr11

102239279

+TMEM123chr11

102272937

-
* 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
In-frameENST00000530675ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000530675ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000530675ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000530675ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000227758ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000227758ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000227758ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000227758ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000532672ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
In-frameENST00000532672ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000532672ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
5CDS-5UTRENST00000532672ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-3CDSENST00000527910ENST00000361236BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-3CDSENST00000527910ENST00000398136BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-5UTRENST00000527910ENST00000532161BIRC2chr11

102239279

+TMEM123chr11

102272937

-
3UTR-5UTRENST00000527910ENST00000525577BIRC2chr11

102239279

+TMEM123chr11

102272937

-

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FusionProtFeatures for BIRC2_TMEM123


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BIRC2

Q13490

TMEM123

Q8N131

Multi-functional protein which regulates not onlycaspases and apoptosis, but also modulates inflammatory signalingand 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 bothcanonical and non-canonical NF-kappa-B signaling by acting inopposite directions: acts as a positive regulator of the canonicalpathway and suppresses constitutive activation of non-canonicalNF-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 E3ubiquitin-protein ligase of the NEDD8 conjugation pathway,targeting effector caspases for neddylation and inactivation. Actsas an important regulator of innate immune signaling viaregulation of Toll-like receptors (TLRs), Nodlike receptors (NLRs)and RIG-I like receptors (RLRs), collectively referred to aspattern recognition receptors (PRRs). Protects cells fromspontaneous formation of the ripoptosome, a large multi-proteincomplex that has the capability to kill cancer cells in a caspase-dependent and caspase-independent manner. Suppresses ripoptosomeformation by ubiquitinating RIPK1 and CASP8. Can stimulate thetranscriptional activity of E2F1. Plays a role in the modulationof 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}. Implicated in oncotic cell death, characterized by cellswelling, organelle swelling, vacuolization and increased membranepermeability. {ECO:0000269|PubMed:11481458}.

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
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69184_250455619RepeatNote=BIR 2
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69269_336455619RepeatNote=BIR 3
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+6946_113455619RepeatNote=BIR 1
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69184_250406570RepeatNote=BIR 2
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69269_336406570RepeatNote=BIR 3
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+6946_113406570RepeatNote=BIR 1
TgeneTMEM123chr11:102239279chr11:102272937ENST00000361236-0452_15333190Compositional biasNote=Thr-rich
TgeneTMEM123chr11:102239279chr11:102272937ENST00000398136-1552_15352209Compositional biasNote=Thr-rich
TgeneTMEM123chr11:102239279chr11:102272937ENST00000361236-04188_20833190Topological domainCytoplasmic
TgeneTMEM123chr11:102239279chr11:102272937ENST00000398136-15188_20852209Topological domainCytoplasmic
TgeneTMEM123chr11:102239279chr11:102272937ENST00000361236-04167_18733190TransmembraneHelical
TgeneTMEM123chr11:102239279chr11:102272937ENST00000398136-15167_18752209TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69453_543455619DomainCARD
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69453_543406570DomainCARD
HgeneBIRC2chr11:102239279chr11:102272937ENST00000227758+69571_606455619Zinc fingerRING-type
HgeneBIRC2chr11:102239279chr11:102272937ENST00000530675+69571_606406570Zinc fingerRING-type
TgeneTMEM123chr11:102239279chr11:102272937ENST00000361236-0427_16633190Topological domainExtracellular
TgeneTMEM123chr11:102239279chr11:102272937ENST00000398136-1527_16652209Topological domainExtracellular


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FusionGeneSequence for BIRC2_TMEM123


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 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
BIRC2MAGEA11, JUP, TRAF2, CASP8, DIABLO, HTRA2, GSPT1, RIPK2, CASP9, TNFSF14, TRAF1, CASP3, CASP7, TNFRSF1A, BCL10, BIRC2, RAF1, ADRM1, RIPK1, HSP90B1, XAF1, UBE2J1, UBE2W, FBXO7, XIAP, BIRC5, IKBKG, UBE2L3, UBE2D3, UBE2D1, TNF, TNFRSF12A, TSG101, UBE2B, UBE2D2, UBE2Q2, UBE2S, BIRC7, UBC, TRAF3, TRAF6, MAVS, RIPK3, RIPK4, UBXN7, USP19, MAP3K14, TANK, TOLLIP, TRIM32, NOD2, SH3KBP1, AIMP2, RAC1, BIRC3, CASP2, CD40, DHX9, ILF3, ILF2, IGF2BP1, E2F1, GSK3B, UBE2V1, MXD1, PGAM5, IKBKE, NFKB2, RNF31, UBA1, UBR4, UBR5, WDR1, DCAF7, WDR82, USP15, USP7, USP9X, OTUB1, TNFSF12, CBLC, TRIM34, RNF181, DZIP3, CD40LG, TNFAIP3, EGFR, RHOA, CDC42, PACS2, MAP3K2, MAP3K3, PCSK9, ENDOG, GFAP, NMB, BOLA1, WDYHV1, EAF2, EXOSC5, GCC1, TSGA10, PPM1K, CASP10, UBE2L6, PRDX3, CD27, TAS2R7, FSD1, NFKBIA, DNAJB2, DNASE2B, CLEC11A, LTBR, VPS4B, UBXN1, TUFT1, ABHD17A, EGLN3, CSE1L, TLR3, ULK1, TOMM20, LRRN2, LPIN3, ADAMTS4, RABGEF1, TMEM9B, SPINK7, LYG2, CSTF2T, C19orf44, CCNYL1, ZFAND6, GNAZ, DCAF12, C1R, FAM19A3, GPR107, GAP43, CYLD, GLMN, UBE2N, TRIM25TMEM123MAGEA11, ELAVL1, WDFY1


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 BIRC2_TMEM123


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 BIRC2_TMEM123


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBIRC2C0019693HIV Infections1CTD_human
HgeneBIRC2C0023418leukemia1CTD_human
HgeneBIRC2C0038356Stomach Neoplasms1CTD_human
HgeneBIRC2C1458155Mammary Neoplasms1CTD_human