	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 12112

FusionGeneSummary for ESRRG_UBA1

Fusion gene summary

Fusion gene information	Fusion gene name: ESRRG_UBA1
	Fusion gene ID: 12112
		Hgene	Tgene
	Gene symbol	ESRRG	UBA1
	Gene ID	2104	7317
	Gene name	estrogen related receptor gamma	ubiquitin like modifier activating enzyme 1
	Synonyms	ERR-gamma\|ERR3\|ERRg\|ERRgamma\|NR3B3	A1S9\|A1S9T\|A1ST\|AMCX1\|CFAP124\|GXP1\|POC20\|SMAX2\|UBA1A\|UBE1\|UBE1X
	Cytomap	1q41	Xp11.3
	Type of gene	protein-coding	protein-coding
	Description	estrogen-related receptor gammaERR gamma-2estrogen receptor-related protein 3nuclear receptor subfamily 3 group B member 3	ubiquitin-like modifier-activating enzyme 1A1S9T and BN75 temperature sensitivity complementingPOC20 centriolar protein homologUBA1, ubiquitin-activating enzyme E1 homolog Atesticular secretory protein Li 63
	Modification date	20180519	20180523
	UniProtAcc	P62508	P22314
	Ensembl transtripts involved in fusion gene	ENST00000361525, ENST00000366940, ENST00000361395, ENST00000366938, ENST00000359162, ENST00000493603, ENST00000463665, ENST00000487276, ENST00000493748, ENST00000471371, ENST00000391890, ENST00000366937, ENST00000408911, ENST00000360012,	ENST00000377351, ENST00000335972, ENST00000490869, ENST00000377269,
Fusion gene scores	* DoF score	4 X 4 X 2=32	5 X 5 X 2=50
	# samples	4	6
	** MAII score	log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(6/50*10)=0.263034405833794 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: ESRRG [Title/Abstract] AND UBA1 [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)

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	ESRRG	GO:0006355	regulation of transcription, DNA-templated	23836911
Tgene	UBA1	GO:0006974	cellular response to DNA damage stimulus	22456334

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BE327527	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+

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

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-intron	ENST00000361525	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361525	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361525	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361525	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366940	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366940	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366940	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366940	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361395	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361395	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361395	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000361395	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366938	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366938	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366938	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366938	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000359162	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000359162	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000359162	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000359162	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493603	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493603	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493603	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493603	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000463665	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000463665	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000463665	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000463665	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000487276	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000487276	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000487276	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000487276	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493748	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493748	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493748	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000493748	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000471371	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000471371	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000471371	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000471371	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000391890	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000391890	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000391890	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000391890	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366937	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366937	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366937	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000366937	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000408911	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000408911	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000408911	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000408911	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000360012	ENST00000377351	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000360012	ENST00000335972	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000360012	ENST00000490869	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+
intron-intron	ENST00000360012	ENST00000377269	ESRRG	chr1	217240030	+	UBA1	chrX	47066286	+

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FusionProtFeatures for ESRRG_UBA1

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

Hgene	Tgene
ESRRG P62508	UBA1 P22314
	Catalyzes the first step in ubiquitin conjugation tomark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1606621, PubMed:1447181). Activatesubiquitin by first adenylating its C-terminal glycine residue withATP, and thereafter linking this residue to the side chain of acysteine residue in E1, yielding a ubiquitin-E1 thioester and freeAMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replicationstress. Promotes the recruitment of TP53BP1 and BRCA1 at DNAdamage sites (PubMed:22456334). {ECO:0000269\|PubMed:1447181,ECO:0000269\|PubMed:1606621, ECO:0000269\|PubMed:22456334}.

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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FusionGeneSequence for ESRRG_UBA1

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 ESRRG_UBA1

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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RelatedDrugs for ESRRG_UBA1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Hgene	ESRRG	P62508	DB00675	Tamoxifen	Estrogen-related receptor gamma	small molecule	approved
Hgene	ESRRG	P62508	DB02659	Cholic Acid	Estrogen-related receptor gamma	small molecule	approved
Hgene	ESRRG	P62508	DB00255	Diethylstilbestrol	Estrogen-related receptor gamma	small molecule	approved\|investigational
Hgene	ESRRG	P62508	DB00783	Estradiol	Estrogen-related receptor gamma	small molecule	approved\|investigational\|vet_approved

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RelatedDiseases for ESRRG_UBA1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	UBA1	C1844934	Arthrogryposis multiplex congenita, distal, X-linked	2	CTD_human;ORPHANET;UNIPROT
Tgene	UBA1	C0007137	Squamous cell carcinoma	1	CTD_human

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Fusion gene ID: 12112

FusionGeneSummary for ESRRG_UBA1

FusionProtFeatures for ESRRG_UBA1

FusionGeneSequence for ESRRG_UBA1

FusionGenePPI for ESRRG_UBA1

RelatedDrugs for ESRRG_UBA1

RelatedDiseases for ESRRG_UBA1