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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:BRCA1-SYNE1 (FusionGDB2 ID:10156)

Fusion Gene Summary for BRCA1-SYNE1

Fusion gene summary

Fusion gene information	Fusion gene name: BRCA1-SYNE1
	Fusion gene ID: 10156
		Hgene	Tgene
	Gene symbol	BRCA1	SYNE1
	Gene ID	672	23345
	Gene name	BRCA1 DNA repair associated	spectrin repeat containing nuclear envelope protein 1
	Synonyms	BRCAI\|BRCC1\|BROVCA1\|FANCS\|IRIS\|PNCA4\|PPP1R53\|PSCP\|RNF53	8B\|AMCM\|ARCA1\|C6orf98\|CPG2\|EDMD4\|KASH1\|MYNE1\|Nesp1\|SCAR8\|dJ45H2.2
	Cytomap	17q21.31	6q25.2
	Type of gene	protein-coding	protein-coding
	Description	breast cancer type 1 susceptibility proteinBRCA1/BRCA2-containing complex, subunit 1Fanconi anemia, complementation group SRING finger protein 53breast and ovarian cancer susceptibility protein 1breast cancer 1, early onsetearly onset breast cancer	nesprin-1CPG2 full lengthKASH domain-containing protein 1enaptinmyocyte nuclear envelope protein 1nesprin 1spectrin repeat containing, nuclear envelope 1synaptic nuclear envelope protein 1synaptic nuclei expressed gene 1
	Modification date	20200329	20200320
	UniProtAcc	P38398	.
	Ensembl transtripts involved in fusion gene	ENST00000309486, ENST00000346315, ENST00000351666, ENST00000352993, ENST00000354071, ENST00000357654, ENST00000468300, ENST00000471181, ENST00000491747, ENST00000493795, ENST00000586385, ENST00000591534, ENST00000591849,	ENST00000265368, ENST00000341594, ENST00000347037, ENST00000354674, ENST00000356820, ENST00000367248, ENST00000367253, ENST00000367255, ENST00000413186, ENST00000423061, ENST00000448038, ENST00000466159, ENST00000495090, ENST00000539504,
Fusion gene scores	* DoF score	9 X 8 X 7=504	16 X 18 X 9=2592
	# samples	9	18
	** MAII score	log2(9/504*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(18/2592*10)=-3.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: BRCA1 [Title/Abstract] AND SYNE1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	BRCA1(41245300)-SYNE1(152842955), # 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	BRCA1	GO:0000724	double-strand break repair via homologous recombination	17349954
Hgene	BRCA1	GO:0006301	postreplication repair	17349954
Hgene	BRCA1	GO:0006302	double-strand break repair	22186889
Hgene	BRCA1	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	14654789
Hgene	BRCA1	GO:0016567	protein ubiquitination	17349954
Hgene	BRCA1	GO:0031398	positive regulation of protein ubiquitination	15965487
Hgene	BRCA1	GO:0035066	positive regulation of histone acetylation	20820192
Hgene	BRCA1	GO:0043627	response to estrogen	8895509
Hgene	BRCA1	GO:0045892	negative regulation of transcription, DNA-templated	16288014
Hgene	BRCA1	GO:0045893	positive regulation of transcription, DNA-templated	20160719
Hgene	BRCA1	GO:0045944	positive regulation of transcription by RNA polymerase II	16331276
Hgene	BRCA1	GO:0051571	positive regulation of histone H3-K4 methylation	20820192
Hgene	BRCA1	GO:0051573	negative regulation of histone H3-K9 methylation	20820192
Hgene	BRCA1	GO:0051865	protein autoubiquitination	12890688\|20351172
Hgene	BRCA1	GO:0070512	positive regulation of histone H4-K20 methylation	20820192
Hgene	BRCA1	GO:0071158	positive regulation of cell cycle arrest	21102443
Hgene	BRCA1	GO:0071681	cellular response to indole-3-methanol	10868478
Hgene	BRCA1	GO:0085020	protein K6-linked ubiquitination	12890688\|20351172
Hgene	BRCA1	GO:2000617	positive regulation of histone H3-K9 acetylation	20820192
Hgene	BRCA1	GO:2000620	positive regulation of histone H4-K16 acetylation	20820192
Tgene	SYNE1	GO:0007030	Golgi organization	12808039
Tgene	SYNE1	GO:0042692	muscle cell differentiation	11792814
Tgene	SYNE1	GO:0090286	cytoskeletal anchoring at nuclear membrane	18396275
Tgene	SYNE1	GO:0090292	nuclear matrix anchoring at nuclear membrane	11801724

Fusion gene breakpoints across BRCA1 (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 SYNE1 (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	GU129208	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+

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Fusion Gene ORF analysis for BRCA1-SYNE1

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	ENST00000309486	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000309486	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000346315	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000351666	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000352993	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000354071	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000357654	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000468300	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000471181	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000491747	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000493795	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000586385	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591534	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000265368	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000341594	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000347037	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000354674	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000356820	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000367248	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000367253	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000367255	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000413186	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000423061	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000448038	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000466159	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000495090	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+
intron-intron	ENST00000591849	ENST00000539504	BRCA1	chr17	41245300	-	SYNE1	chr6	152842955	+

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 BRCA1-SYNE1

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 BRCA1-SYNE1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:41245300/:152842955)
- 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
BRCA1 P38398	.
FUNCTION: E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage (PubMed:12890688, PubMed:14976165, PubMed:16818604, PubMed:17525340, PubMed:12887909, PubMed:10500182, PubMed:19261748). It is unclear whether it also mediates the formation of other types of polyubiquitin chains (PubMed:12890688). The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability (PubMed:12890688, PubMed:14976165, PubMed:20351172). Regulates centrosomal microtubule nucleation (PubMed:18056443). Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle (PubMed:10724175, PubMed:12183412, PubMed:11836499, PubMed:19261748). Required for FANCD2 targeting to sites of DNA damage (PubMed:12887909). Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation (PubMed:16326698). Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine-tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks (PubMed:19369211). Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1-mediated ubiquitination of RBBP8 (PubMed:16818604). Acts as a transcriptional activator (PubMed:20160719). {ECO:0000269\|PubMed:10500182, ECO:0000269\|PubMed:10724175, ECO:0000269\|PubMed:11836499, ECO:0000269\|PubMed:12183412, ECO:0000269\|PubMed:12887909, ECO:0000269\|PubMed:12890688, ECO:0000269\|PubMed:14976165, ECO:0000269\|PubMed:16326698, ECO:0000269\|PubMed:16818604, ECO:0000269\|PubMed:17525340, ECO:0000269\|PubMed:18056443, ECO:0000269\|PubMed:19261748, ECO:0000269\|PubMed:19369211, ECO:0000269\|PubMed:20160719, ECO:0000269\|PubMed:20351172}.	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}.

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 BRCA1-SYNE1

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 BRCA1-SYNE1

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 BRCA1-SYNE1

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 BRCA1-SYNE1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source