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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 MCM8:

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
ENSG00000125885	MCM8	0	0	3	ENSG00000125885	ENST00000378896	ENSP00000368174	minichromosome maintenance complex component 8 [Source:HGNC Symbol;Acc:16147]	20	5931298	5975852	1	p12.3	5931298	5975852	MCM8	MCM8-001	HGNC Symbol	HGNC transcript name	4	39.19	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	84515	16147	MCM8	NM_001281520	27522

MSeqDR Master Exome Data Set M1: 290 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	20	5931473	G	A	ENST00000378883	ENSG00000125885	5931298	5975852	ENSP00000368161	MCM8	1	MCM8_HUMAN	-	-	5'_UTR	rs236188	0.2787	-	-	-	-	-	het	2
2	20	5931473	G	A	ENST00000378896	ENSG00000125885	5931298	5975852	ENSP00000368174	MCM8	1	MCM8_HUMAN	-	-	5'_UTR	rs236188	0.2787	-	-	-	-	-	het	2
3	20	5932650	C	T	ENST00000265187	ENSG00000125885	5931298	5975852	ENSP00000265187	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	het	23
4	20	5932650	C	T	ENST00000265187	ENSG00000125885	5931298	5975852	ENSP00000265187	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	hom	2
5	20	5932650	C	T	ENST00000378883	ENSG00000125885	5931298	5975852	ENSP00000368161	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	het	23
6	20	5932650	C	T	ENST00000378883	ENSG00000125885	5931298	5975852	ENSP00000368161	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	hom	2
7	20	5932650	C	T	ENST00000378886	ENSG00000125885	5931298	5975852	ENSP00000368164	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	het	23
8	20	5932650	C	T	ENST00000378886	ENSG00000125885	5931298	5975852	ENSP00000368164	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	hom	2
9	20	5932650	C	T	ENST00000378896	ENSG00000125885	5931298	5975852	ENSP00000368174	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	het	23
10	20	5932650	C	T	ENST00000378896	ENSG00000125885	5931298	5975852	ENSP00000368174	MCM8	1	MCM8_HUMAN	-	-	-7bp 3'_splice_site	rs17220251	0.0298	T=152/C=8448;T=19/C=4387;T=171/C=12835	-	-	-	-	hom	2
11	20	5932755	A	T	ENST00000265187	ENSG00000125885	5931298	5975852	ENSP00000265187	MCM8	1	MCM8_HUMAN	c.94A>T	p.R32*	non-syn	NA	-	-	lod=31:336	DAMAGING	NA	-	het	1
12	20	5932755	A	T	ENST00000378883	ENSG00000125885	5931298	5975852	ENSP00000368161	MCM8	1	MCM8_HUMAN	c.94A>T	p.R32*	non-syn	NA	-	-	lod=31:336	DAMAGING	NA	-	het	1
13	20	5932755	A	T	ENST00000378886	ENSG00000125885	5931298	5975852	ENSP00000368164	MCM8	1	MCM8_HUMAN	c.94A>T	p.R32*	non-syn	NA	-	-	lod=31:336	DAMAGING	NA	-	het	1
14	20	5932755	A	T	ENST00000378896	ENSG00000125885	5931298	5975852	ENSP00000368174	MCM8	1	MCM8_HUMAN	c.94A>T	p.R32*	non-syn	NA	-	-	lod=31:336	DAMAGING	NA	-	het	1
15	20	5933108	C	A	ENST00000265187	ENSG00000125885	5931298	5975852	ENSP00000265187	MCM8	1	MCM8_HUMAN	c.187C>A	p.Q63K	non-syn	rs236110	0.3997	A=1014/C=7586;A=1955/C=2451;A=2969/C=10037	lod=17:272	TOLERATED	P	-	het	226
16	20	5933108	C	A	ENST00000265187	ENSG00000125885	5931298	5975852	ENSP00000265187	MCM8	1	MCM8_HUMAN	c.187C>A	p.Q63K	non-syn	rs236110	0.3997	A=1014/C=7586;A=1955/C=2451;A=2969/C=10037	lod=17:272	TOLERATED	P	-	hom	34
17	20	5933108	C	A	ENST00000378883	ENSG00000125885	5931298	5975852	ENSP00000368161	MCM8	1	MCM8_HUMAN	c.187C>A	p.Q63K	non-syn	rs236110	0.3997	A=1014/C=7586;A=1955/C=2451;A=2969/C=10037	lod=17:272	TOLERATED	P	-	het	226
18	20	5933108	C	A	ENST00000378883	ENSG00000125885	5931298	5975852	ENSP00000368161	MCM8	1	MCM8_HUMAN	c.187C>A	p.Q63K	non-syn	rs236110	0.3997	A=1014/C=7586;A=1955/C=2451;A=2969/C=10037	lod=17:272	TOLERATED	P	-	hom	34
19	20	5933108	C	A	ENST00000378886	ENSG00000125885	5931298	5975852	ENSP00000368164	MCM8	1	MCM8_HUMAN	c.187C>A	p.Q63K	non-syn	rs236110	0.3997	A=1014/C=7586;A=1955/C=2451;A=2969/C=10037	lod=17:272	TOLERATED	P	-	het	226
20	20	5933108	C	A	ENST00000378886	ENSG00000125885	5931298	5975852	ENSP00000368164	MCM8	1	MCM8_HUMAN	c.187C>A	p.Q63K	non-syn	rs236110	0.3997	A=1014/C=7586;A=1955/C=2451;A=2969/C=10037	lod=17:272	TOLERATED	P	-	hom	34

** 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 MCM8 20:5931298..5975852 region Gbrowse