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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:SMC5-COL11A2 (FusionGDB2 ID:84017)

Fusion Gene Summary for SMC5-COL11A2

Fusion gene summary

Fusion gene information	Fusion gene name: SMC5-COL11A2
	Fusion gene ID: 84017
		Hgene	Tgene
	Gene symbol	SMC5	COL11A2
	Gene ID	23137	1302
	Gene name	structural maintenance of chromosomes 5	collagen type XI alpha 2 chain
	Synonyms	SMC5L1	DFNA13\|DFNB53\|FBCG2\|HKE5\|OSMEDA\|OSMEDB\|PARP\|STL3
	Cytomap	9q21.12	6p21.32
	Type of gene	protein-coding	protein-coding
	Description	structural maintenance of chromosomes protein 5SMC protein 5SMC-5SMC5 structural maintenance of chromosomes 5-like 1hSMC5	collagen alpha-2(XI) chaincollagen, type XI, alpha 2pro-a2 chain of collagen type XI
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000361138, ENST00000471372,	ENST00000341947, ENST00000357486, ENST00000361917, ENST00000374708, ENST00000374712, ENST00000374713, ENST00000374714, ENST00000383087, ENST00000383088, ENST00000383219, ENST00000395194, ENST00000395197, ENST00000425729, ENST00000435763, ENST00000439039, ENST00000447349, ENST00000447741, ENST00000448717, ENST00000452937, ENST00000477772, ENST00000486982, ENST00000494246, ENST00000496392, ENST00000496849, ENST00000546402, ENST00000546998, ENST00000547261, ENST00000547561, ENST00000547597, ENST00000547846, ENST00000547883, ENST00000547999, ENST00000548137, ENST00000548637, ENST00000548739, ENST00000549088, ENST00000549289, ENST00000549290, ENST00000549381, ENST00000549491, ENST00000549811, ENST00000549836, ENST00000549885, ENST00000550101, ENST00000550517, ENST00000550561, ENST00000550955, ENST00000550998, ENST00000551234, ENST00000551262, ENST00000551413, ENST00000551536, ENST00000551542, ENST00000551559, ENST00000551572, ENST00000551637, ENST00000551758, ENST00000551786, ENST00000552134, ENST00000552473, ENST00000552556, ENST00000552765, ENST00000552796, ENST00000552971, ENST00000553210, ENST00000553240,
Fusion gene scores	* DoF score	8 X 10 X 4=320	3 X 3 X 2=18
	# samples	9	3
	** MAII score	log2(9/320*10)=-1.83007499855769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: SMC5 [Title/Abstract] AND COL11A2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	SMC5(72875454)-COL11A2(33154222), # 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	SMC5	GO:0006974	cellular response to DNA damage stimulus	11408570\|25931565
Tgene	COL11A2	GO:0030199	collagen fibril organization	9188673

Fusion gene breakpoints across SMC5 (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 COL11A2 (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	N66396	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+

Top

Fusion Gene ORF analysis for SMC5-COL11A2

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	ENST00000361138	ENST00000341947	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000357486	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000361917	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000374708	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000374712	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000374713	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000374714	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000383087	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000383088	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000383219	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000395194	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000395197	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000425729	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000435763	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000439039	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000447349	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000447741	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000448717	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000452937	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000477772	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000486982	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000494246	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000496392	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000496849	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000546402	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000546998	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000547261	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000547561	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000547597	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000547846	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000547883	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000547999	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000548137	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000548637	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000548739	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549088	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549289	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549290	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549381	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549491	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549811	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549836	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000549885	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000550101	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000550517	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000550561	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000550955	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000550998	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551234	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551262	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551413	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551536	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551542	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551559	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551572	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551637	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551758	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000551786	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000552134	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000552473	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000552556	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000552765	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000552796	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000552971	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000553210	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000361138	ENST00000553240	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000341947	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000357486	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000361917	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000374708	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000374712	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000374713	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000374714	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000383087	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000383088	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000383219	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000395194	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000395197	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000425729	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000435763	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000439039	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000447349	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000447741	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000448717	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000452937	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000477772	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000486982	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000494246	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000496392	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000496849	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000546402	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000546998	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000547261	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000547561	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000547597	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000547846	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000547883	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000547999	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000548137	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000548637	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000548739	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549088	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549289	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549290	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549381	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549491	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549811	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549836	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000549885	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000550101	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000550517	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000550561	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000550955	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000550998	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551234	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551262	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551413	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551536	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551542	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551559	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551572	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551637	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551758	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000551786	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000552134	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000552473	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000552556	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000552765	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000552796	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000552971	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000553210	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+
intron-intron	ENST00000471372	ENST00000553240	SMC5	chr9	72875454	+	COL11A2	chr6	33154222	+

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

Top

Fusion Genomic Features for SMC5-COL11A2

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 SMC5-COL11A2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:72875454/:33154222)
- 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
.	.
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}.	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 SMC5-COL11A2

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 SMC5-COL11A2

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 SMC5-COL11A2

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 SMC5-COL11A2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source