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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term MYBPC3:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000134571	MYBPC3	1	5	927	ENSG00000134571	ENST00000545968	ENSP00000442795	myosin binding protein C, cardiac [Source:HGNC Symbol;Acc:7551]	11	47352957	47374253	-1	p11.2	47352957	47374253	MYBPC3	MYBPC3-001	HGNC Symbol	HGNC transcript name	4	57.91	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	4607	7551	MYBPC3	NM_000256	27504

MSeqDR Master Exome Data Set M1: 273 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	11	47353382	C	T	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	-	-	+14bp 5'_splice_site	NA	-	T=0/C=8384;T=2/C=4078;T=2/C=12462	-	-	-	-	het	1
2	11	47353382	C	T	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	-	-	+14bp 5'_splice_site	NA	-	T=0/C=8384;T=2/C=4078;T=2/C=12462	-	-	-	-	het	1
3	11	47353382	C	T	ENST00000545968	ENSG00000134571	47352957	47374253	ENSP00000442795	MYBPC3	-1	MYPC3_HUMAN	-	-	+14bp 5'_splice_site	NA	-	T=0/C=8384;T=2/C=4078;T=2/C=12462	-	-	-	-	het	1
4	11	47353738	C	T	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	c.3696G>A	p.Q1232Q	syn	rs200162906	-	T=1/C=8299;T=0/C=3918;T=1/C=12217	lod=192:531	-	-	-	het	2
5	11	47353738	C	T	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	c.3699G>A	p.Q1233Q	syn	rs200162906	-	T=1/C=8299;T=0/C=3918;T=1/C=12217	lod=192:531	-	-	-	het	2
6	11	47353738	C	T	ENST00000545968	ENSG00000134571	47352957	47374253	ENSP00000442795	MYBPC3	-1	MYPC3_HUMAN	c.3699G>A	p.Q1233Q	syn	rs200162906	-	T=1/C=8299;T=0/C=3918;T=1/C=12217	lod=192:531	-	-	-	het	2
7	11	47354171	C	T	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	c.3570G>A	p.S1190S	syn	NA	-	T=2/C=8278;T=0/C=3946;T=2/C=12224	lod=169:517	-	-	-	het	1
8	11	47354171	C	T	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	c.3573G>A	p.S1191S	syn	NA	-	T=2/C=8278;T=0/C=3946;T=2/C=12224	lod=169:517	-	-	-	het	1
9	11	47354171	C	T	ENST00000545968	ENSG00000134571	47352957	47374253	ENSP00000442795	MYBPC3	-1	MYPC3_HUMAN	c.3573G>A	p.S1191S	syn	NA	-	T=2/C=8278;T=0/C=3946;T=2/C=12224	lod=169:517	-	-	-	het	1
10	11	47354175	C	T	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	c.3566G>A	p.R1189H	non-syn	rs117354682	0.0013	T=0/C=8272;T=1/C=3935;T=1/C=12207	lod=169:517	DAMAGING	-	-	het	3
11	11	47354175	C	T	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	c.3569G>A	p.R1190H	non-syn	rs117354682	0.0013	T=0/C=8272;T=1/C=3935;T=1/C=12207	lod=169:517	DAMAGING	-	-	het	3
12	11	47354175	C	T	ENST00000545968	ENSG00000134571	47352957	47374253	ENSP00000442795	MYBPC3	-1	MYPC3_HUMAN	c.3569G>A	p.R1190H	non-syn	rs117354682	0.0013	T=0/C=8272;T=1/C=3935;T=1/C=12207	lod=169:517	DAMAGING	-	-	het	3
13	11	47354209	C	T	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	c.3532G>A	p.E1178K	non-syn	rs199669878	-	T=6/C=8248;T=0/C=3908;T=6/C=12156	lod=169:517	DAMAGING	-	-	het	1
14	11	47354209	C	T	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	c.3535G>A	p.E1179K	non-syn	rs199669878	-	T=6/C=8248;T=0/C=3908;T=6/C=12156	lod=169:517	DAMAGING	-	-	het	1
15	11	47354209	C	T	ENST00000545968	ENSG00000134571	47352957	47374253	ENSP00000442795	MYBPC3	-1	MYPC3_HUMAN	c.3535G>A	p.E1179K	non-syn	rs199669878	-	T=6/C=8248;T=0/C=3908;T=6/C=12156	lod=169:517	DAMAGING	-	-	het	1
16	11	47354497	G	A	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	c.3355C>T	p.R1119C	non-syn	NA	-	A=1/G=8295;A=0/G=3982;A=1/G=12277	lod=142:499	DAMAGING	-	-	het	3
17	11	47354497	G	A	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	c.3358C>T	p.R1120C	non-syn	NA	-	A=1/G=8295;A=0/G=3982;A=1/G=12277	lod=142:499	DAMAGING	-	-	het	3
18	11	47354497	G	A	ENST00000545968	ENSG00000134571	47352957	47374253	ENSP00000442795	MYBPC3	-1	MYPC3_HUMAN	c.3358C>T	p.R1120C	non-syn	NA	-	A=1/G=8295;A=0/G=3982;A=1/G=12277	lod=142:499	DAMAGING	-	-	het	3
19	11	47354760	G	T	ENST00000256993	ENSG00000134571	47352957	47374253	ENSP00000256993	MYBPC3	-1	MYPC3_HUMAN	c.3312C>A	p.A1104A	syn	rs200372325	-	T=2/G=8352;T=0/G=4038;T=2/G=12390	lod=57:401	-	-	-	het	2
20	11	47354760	G	T	ENST00000399249	ENSG00000134571	47352957	47374253	ENSP00000382193	MYBPC3	-1	-	c.3315C>A	p.A1105A	syn	rs200372325	-	T=2/G=8352;T=0/G=4038;T=2/G=12390	lod=57:401	-	-	-	het	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding MYBPC3 11:47352957..47374253 region Gbrowse