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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:MDC1-AHCYL1 (FusionGDB2 ID:52335)

Fusion Gene Summary for MDC1-AHCYL1

Fusion gene summary

Fusion gene information	Fusion gene name: MDC1-AHCYL1
	Fusion gene ID: 52335
		Hgene	Tgene
	Gene symbol	MDC1	AHCYL1
	Gene ID	9656	10768
	Gene name	mediator of DNA damage checkpoint 1	adenosylhomocysteinase like 1
	Synonyms	NFBD1	DCAL\|IRBIT\|PPP1R78\|PRO0233\|XPVKONA
	Cytomap	6p21.33	1p13.3
	Type of gene	protein-coding	protein-coding
	Description	mediator of DNA damage checkpoint protein 1homologue to Drosophila photoreceptor protein calphotinnuclear factor with BRCT domains 1	S-adenosylhomocysteine hydrolase-like protein 1DC-expressed AHCY-like moleculeIP(3)Rs binding protein released with IP(3)S-adenosyl homocysteine hydrolase homologS-adenosyl-L-homocysteine hydrolase 2adenosylhomocysteinase 2adoHcyase 2dendritic cell
	Modification date	20200315	20200313
	UniProtAcc	Q14676	O43865
	Ensembl transtripts involved in fusion gene	ENST00000376405, ENST00000376406, ENST00000383566, ENST00000420019, ENST00000420320, ENST00000427406, ENST00000435664, ENST00000440369, ENST00000449153, ENST00000467476, ENST00000473187, ENST00000481026, ENST00000481547, ENST00000482029, ENST00000494654, ENST00000494715, ENST00000495325, ENST00000546487, ENST00000546539, ENST00000547047, ENST00000547353, ENST00000547681, ENST00000547700, ENST00000547874, ENST00000548103, ENST00000548112, ENST00000548248, ENST00000548433, ENST00000548542, ENST00000548827, ENST00000549428, ENST00000550004, ENST00000550408, ENST00000550500, ENST00000550688, ENST00000551204, ENST00000551460, ENST00000551740, ENST00000552263, ENST00000552349, ENST00000552474, ENST00000552522, ENST00000553048, ENST00000553196,	ENST00000359172, ENST00000369799, ENST00000393614, ENST00000475081,
Fusion gene scores	* DoF score	3 X 3 X 1=9	11 X 13 X 4=572
	# samples	3	12
	** MAII score	log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(12/572*10)=-2.25298074116987 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MDC1 [Title/Abstract] AND AHCYL1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MDC1(30672813)-AHCYL1(110563832), # 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
Tgene	AHCYL1	GO:0006378	mRNA polyadenylation	19224921
Tgene	AHCYL1	GO:0031440	regulation of mRNA 3'-end processing	19224921
Tgene	AHCYL1	GO:0038166	angiotensin-activated signaling pathway	20584908
Tgene	AHCYL1	GO:0051592	response to calcium ion	18829453

Fusion gene breakpoints across MDC1 (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 AHCYL1 (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	CA841960	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+

Top

Fusion Gene ORF analysis for MDC1-AHCYL1

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	ENST00000376405	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376405	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376405	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376405	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376406	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376406	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376406	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000376406	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000383566	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000383566	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000383566	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000383566	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420019	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420019	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420019	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420019	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420320	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420320	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420320	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000420320	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000427406	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000427406	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000427406	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000427406	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000435664	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000435664	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000435664	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000435664	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000440369	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000440369	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000440369	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000440369	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000449153	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000449153	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000449153	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000449153	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000467476	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000467476	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000467476	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000467476	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000473187	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000473187	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000473187	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000473187	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481026	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481026	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481026	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481026	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481547	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481547	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481547	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000481547	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000482029	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000482029	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000482029	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000482029	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494654	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494654	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494654	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494654	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494715	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494715	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494715	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000494715	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000495325	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000495325	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000495325	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000495325	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546487	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546487	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546487	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546487	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546539	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546539	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546539	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000546539	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547047	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547047	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547047	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547047	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547353	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547353	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547353	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547353	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547681	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547681	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547681	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547681	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547700	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547700	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547700	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547700	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547874	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547874	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547874	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000547874	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548103	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548103	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548103	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548103	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548112	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548112	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548112	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548112	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548248	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548248	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548248	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548248	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548433	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548433	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548433	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548433	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548542	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548542	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548542	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548542	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548827	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548827	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548827	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000548827	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000549428	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000549428	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000549428	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000549428	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550004	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550004	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550004	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550004	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550408	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550408	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550408	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550408	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550500	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550500	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550500	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550500	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550688	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550688	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550688	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000550688	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551204	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551204	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551204	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551204	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551460	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551460	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551460	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551460	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551740	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551740	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551740	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000551740	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552263	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552263	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552263	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552263	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552349	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552349	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552349	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552349	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552474	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552474	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552474	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552474	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552522	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552522	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552522	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000552522	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553048	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553048	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553048	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553048	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553196	ENST00000359172	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553196	ENST00000369799	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553196	ENST00000393614	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+
intron-intron	ENST00000553196	ENST00000475081	MDC1	chr6	30672813	-	AHCYL1	chr1	110563832	+

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 MDC1-AHCYL1

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 MDC1-AHCYL1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:30672813/:110563832)
- 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
MDC1 Q14676	AHCYL1 O43865
FUNCTION: Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1. {ECO:0000269\|PubMed:12475977, ECO:0000269\|PubMed:12499369, ECO:0000269\|PubMed:12551934, ECO:0000269\|PubMed:12607003, ECO:0000269\|PubMed:12607004, ECO:0000269\|PubMed:12607005, ECO:0000269\|PubMed:12611903, ECO:0000269\|PubMed:14695167, ECO:0000269\|PubMed:15201865, ECO:0000269\|PubMed:15377652}.	FUNCTION: Multifaceted cellular regulator which coordinates several essential cellular functions including regulation of epithelial HCO3(-) and fluid secretion, mRNA processing and DNA replication. Regulates ITPR1 sensitivity to inositol 1,4,5-trisphosphate, competing for the common binding site and acting as endogenous 'pseudoligand' whose inhibitory activity can be modulated by its phosphorylation status. Promotes the formation of contact points between the endoplasmic reticulum (ER) and mitochondria, facilitating transfer of Ca(2+) from the ER to mitochondria (PubMed:27995898). Under normal cellular conditions, functions cooperatively with BCL2L10 to limit ITPR1-mediated Ca(2+) release but, under apoptotic stress conditions, dephosphorylated which promotes dissociation of both AHCYL1 and BCL2L10 from mitochondria-associated endoplasmic reticulum membranes, inhibits BCL2L10 interaction with ITPR1 and leads to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898). In the pancreatic and salivary ducts, at resting state, attenuates inositol 1,4,5-trisphosphate-induced calcium release by interacting with ITPR1 (PubMed:16793548). When extracellular stimuli induce ITPR1 phosphorylation or inositol 1,4,5-trisphosphate production, dissociates from ITPR1 to interact with CFTR and SLC26A6, mediating their synergistic activation by calcium and cAMP that stimulates the epithelial secretion of electrolytes and fluid (By similarity). Also activates basolateral SLC4A4 isoform 1 to coordinate fluid and HCO3(-) secretion (PubMed:16769890). Inhibits the effect of STK39 on SLC4A4 and CFTR by recruiting PP1 phosphatase which activates SLC4A4, SLC26A6 and CFTR through dephosphorylation (By similarity). Mediates the induction of SLC9A3 surface expression produced by Angiotensin-2 (PubMed:20584908). Depending on the cell type, activates SLC9A3 in response to calcium or reverses SLC9A3R2-dependent calcium inhibition (PubMed:18829453). May modulate the polyadenylation state of specific mRNAs, both by controlling the subcellular location of FIP1L1 and by inhibiting PAPOLA activity, in response to a stimulus that alters its phosphorylation state (PubMed:19224921). Acts as a (dATP)-dependent inhibitor of ribonucleotide reductase large subunit RRM1, controlling the endogenous dNTP pool and ensuring normal cell cycle progression (PubMed:25237103). In vitro does not exhibit any S-adenosyl-L-homocysteine hydrolase activity (By similarity). {ECO:0000250\|UniProtKB:B5DFN2, ECO:0000250\|UniProtKB:Q80SW1, ECO:0000269\|PubMed:16769890, ECO:0000269\|PubMed:16793548, ECO:0000269\|PubMed:18829453, ECO:0000269\|PubMed:19224921, ECO:0000269\|PubMed:20584908, ECO:0000269\|PubMed:25237103, ECO:0000269\|PubMed:27995898}.

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 MDC1-AHCYL1

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 MDC1-AHCYL1

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 MDC1-AHCYL1

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 MDC1-AHCYL1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source