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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:ESRRB-CIRBP (FusionGDB2 ID:27585)

Fusion Gene Summary for ESRRB-CIRBP

Fusion gene summary

Fusion gene information	Fusion gene name: ESRRB-CIRBP
	Fusion gene ID: 27585
		Hgene	Tgene
	Gene symbol	ESRRB	CIRBP
	Gene ID	2103	1153
	Gene name	estrogen related receptor beta	cold inducible RNA binding protein
	Synonyms	DFNB35\|ERR beta-2\|ERR2\|ERRb\|ERRbeta2\|ESRL2\|NR3B2	CIRP
	Cytomap	14q24.3	19p13.3
	Type of gene	protein-coding	protein-coding
	Description	steroid hormone receptor ERR2estrogen receptor-like 2estrogen-related nuclear receptor betanuclear receptor ERRB2nuclear receptor subfamily 3 group B member 2orphan nuclear receptor	cold-inducible RNA-binding proteinA18 hnRNPglycine-rich RNA binding proteintesticular tissue protein Li 39
	Modification date	20200326	20200327
	UniProtAcc	O95718	Q14011
	Ensembl transtripts involved in fusion gene	ENST00000261532, ENST00000380887, ENST00000507951, ENST00000509242, ENST00000556177,	ENST00000444172, ENST00000320936, ENST00000413636, ENST00000585630, ENST00000586472, ENST00000586773, ENST00000587323, ENST00000587896, ENST00000588030, ENST00000588090, ENST00000588230, ENST00000589235, ENST00000589660, ENST00000589686, ENST00000589710, ENST00000590188, ENST00000591935,
Fusion gene scores	* DoF score	4 X 4 X 1=16	7 X 7 X 5=245
	# samples	4	8
	** MAII score	log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: ESRRB [Title/Abstract] AND CIRBP [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ESRRB(76778316)-CIRBP(1273171), # samples:1
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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ESRRB	GO:0006355	regulation of transcription, DNA-templated	23836911
Hgene	ESRRB	GO:0019827	stem cell population maintenance	25522312
Tgene	CIRBP	GO:0009411	response to UV	11574538
Tgene	CIRBP	GO:0045727	positive regulation of translation	11574538
Tgene	CIRBP	GO:0048255	mRNA stabilization	11574538

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

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

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	AA570603	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-

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Fusion Gene ORF analysis for ESRRB-CIRBP

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3UTR	ENST00000261532	ENST00000444172	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-3UTR	ENST00000380887	ENST00000444172	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-3UTR	ENST00000507951	ENST00000444172	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-3UTR	ENST00000509242	ENST00000444172	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-3UTR	ENST00000556177	ENST00000444172	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000320936	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000413636	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000585630	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000586472	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000586773	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000587323	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000587896	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000588030	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000588090	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000588230	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000589235	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000589660	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000589686	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000589710	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000590188	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000261532	ENST00000591935	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000320936	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000413636	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000585630	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000586472	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000586773	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000587323	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000587896	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000588030	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000588090	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000588230	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000589235	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000589660	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000589686	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000589710	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000590188	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000380887	ENST00000591935	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000320936	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000413636	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000585630	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000586472	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000586773	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000587323	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000587896	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000588030	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000588090	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000588230	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000589235	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000589660	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000589686	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000589710	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000590188	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000507951	ENST00000591935	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000320936	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000413636	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000585630	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000586472	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000586773	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000587323	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000587896	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000588030	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000588090	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000588230	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000589235	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000589660	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000589686	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000589710	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000590188	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000509242	ENST00000591935	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000320936	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000413636	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000585630	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000586472	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000586773	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000587323	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000587896	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000588030	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000588090	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000588230	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000589235	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000589660	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000589686	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000589710	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000590188	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-
intron-intron	ENST00000556177	ENST00000591935	ESRRB	chr14	76778316	-	CIRBP	chr19	1273171	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for ESRRB-CIRBP

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 ESRRB-CIRBP

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:76778316/:1273171)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ESRRB O95718	CIRBP Q14011
FUNCTION: [Isoform 3]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity (PubMed:17920186, PubMed:19755138). Plays a role, in a LIF-independent manner, in maintainance of self-renewal and pluripotency of embryonic and trophoblast stem cells through different signaling pathways including FGF signaling pathway and Wnt signaling pathways. Upon FGF signaling pathway activation, interacts with KDM1A by directly binding to enhancer site of ELF5 and EOMES and activating their transcription leading to self-renewal of trophoblast stem cells. Also regulates expression of multiple rod-specific genes and is required for survival of this cell type (By similarity). Plays a role as transcription factor activator of GATA6, NR0B1, POU5F1 and PERM1 (PubMed:23836911). Plays a role as transcription factor repressor of NFE2L2 transcriptional activity and ESR1 transcriptional activity (PubMed:17920186, PubMed:19755138). During mitosis remains bound to a subset of interphase target genes, including pluripotency regulators, through the canonical ESRRB recognition (ERRE) sequence, leading to their transcriptional activation in early G1 phase. Can coassemble on structured DNA elements with other transcription factors like SOX2, POU5F1, KDM1A and NCOA3 to trigger ESRRB-dependent gene activation. This mechanism, in the case of SOX2 corecruitment prevents the embryonic stem cells (ESCs) to epiblast stem cells (EpiSC) transition through positive regulation of NR0B1 that inhibits the EpiSC transcriptional program. Also plays a role inner ear development by controlling expression of ion channels and transporters and in early placentation (By similarity). {ECO:0000250\|UniProtKB:Q61539, ECO:0000269\|PubMed:17920186, ECO:0000269\|PubMed:19755138, ECO:0000269\|PubMed:23836911}.; FUNCTION: [Isoform 1]: Transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of targets genes regulating their expression or their transcription activity. Positively regulates ESR1 transcriptional activity upon E2 stimulation. {ECO:0000269\|PubMed:19755138}.	FUNCTION: Cold-inducible mRNA binding protein that plays a protective role in the genotoxic stress response by stabilizing transcripts of genes involved in cell survival. Acts as a translational activator. Seems to play an essential role in cold-induced suppression of cell proliferation. Binds specifically to the 3'-untranslated regions (3'-UTRs) of stress-responsive transcripts RPA2 and TXN. Acts as a translational repressor (By similarity). Promotes assembly of stress granules (SGs), when overexpressed. {ECO:0000250, ECO:0000269\|PubMed:11574538, ECO:0000269\|PubMed:16513844}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for ESRRB-CIRBP

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 ESRRB-CIRBP

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for ESRRB-CIRBP

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for ESRRB-CIRBP

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source