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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 MKKS:

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
ENSG00000125863	MKKS	0	0	25	ENSG00000125863	ENST00000347364	ENSP00000246062	McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:7108]	20	10381657	10414870	-1	p12.2	10381657	10414870	MKKS	MKKS-001	HGNC Symbol	HGNC transcript name	3	38.19	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8195	7108	MKKS	NM_170784	27522

MSeqDR Master Exome Data Set M1: 58 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	10385849	C	A	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	-	-	3'_UTR	rs74703166	0.0324	A=3/C=8551;A=328/C=4072;A=331/C=12623	-	-	-	-	het	3
2	20	10385849	C	A	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	-	-	3'_UTR	rs74703166	0.0324	A=3/C=8551;A=328/C=4072;A=331/C=12623	-	-	-	-	het	3
3	20	10385857	T	C	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	-	-	3'_UTR	rs79940214	0.0384	C=3/T=8581;C=334/T=4070;C=337/T=12651	-	-	-	-	het	3
4	20	10385857	T	C	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	-	-	3'_UTR	rs79940214	0.0384	C=3/T=8581;C=334/T=4070;C=337/T=12651	-	-	-	-	het	3
5	20	10386013	C	A	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1595G>T	p.G532V	non-syn	rs1545	0.1763	A=962/C=7638;A=757/C=3649;A=1719/C=11287	-	DAMAGING	B	HGMD	het	228
6	20	10386013	C	A	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1595G>T	p.G532V	non-syn	rs1545	0.1763	A=962/C=7638;A=757/C=3649;A=1719/C=11287	-	DAMAGING	B	HGMD	hom	18
7	20	10386013	C	A	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1595G>T	p.G532V	non-syn	rs1545	0.1763	A=962/C=7638;A=757/C=3649;A=1719/C=11287	-	DAMAGING	B	HGMD	het	228
8	20	10386013	C	A	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1595G>T	p.G532V	non-syn	rs1545	0.1763	A=962/C=7638;A=757/C=3649;A=1719/C=11287	-	DAMAGING	B	HGMD	hom	18
9	20	10386055	C	T	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1553G>A	p.R518H	non-syn	rs149051148	0.0011	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	B	HGMD	het	2
10	20	10386055	C	T	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1553G>A	p.R518H	non-syn	rs149051148	0.0011	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	TOLERATED	B	HGMD	het	2
11	20	10386059	G	A	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1549C>T	p.R517C	non-syn	rs1547	0.1943	A=962/G=7638;A=757/G=3649;A=1719/G=11287	-	TOLERATED	B	Bardet-Biedl syndrome	het	235
12	20	10386059	G	A	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1549C>T	p.R517C	non-syn	rs1547	0.1943	A=962/G=7638;A=757/G=3649;A=1719/G=11287	-	TOLERATED	B	Bardet-Biedl syndrome	hom	21
13	20	10386059	G	A	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1549C>T	p.R517C	non-syn	rs1547	0.1943	A=962/G=7638;A=757/G=3649;A=1719/G=11287	-	TOLERATED	B	Bardet-Biedl syndrome	het	235
14	20	10386059	G	A	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1549C>T	p.R517C	non-syn	rs1547	0.1943	A=962/G=7638;A=757/G=3649;A=1719/G=11287	-	TOLERATED	B	Bardet-Biedl syndrome	hom	21
15	20	10386146	C	T	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1462G>A	p.A488T	non-syn	rs61734546	0.0358	T=1/C=8599;T=166/C=4240;T=167/C=12839	-	TOLERATED	B	-	het	4
16	20	10386146	C	T	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1462G>A	p.A488T	non-syn	rs61734546	0.0358	T=1/C=8599;T=166/C=4240;T=167/C=12839	-	TOLERATED	B	-	het	4
17	20	10388370	G	A	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1166C>T	p.T389M	non-syn	NA	-	-	lod=36:352	DAMAGING	P	-	het	1
18	20	10388370	G	A	ENST00000399054	ENSG00000125863	10381657	10414870	ENSP00000382008	MKKS	-1	MKKS_HUMAN	c.1166C>T	p.T389M	non-syn	NA	-	-	lod=36:352	DAMAGING	P	-	het	1
19	20	10389422	T	C	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1015A>G	p.I339V	non-syn	rs137853909	0.00281	C=39/T=8561;C=0/T=4406;C=39/T=12967	-	TOLERATED	B	HGMD	hom	1
20	20	10389422	T	C	ENST00000347364	ENSG00000125863	10381657	10414870	ENSP00000246062	MKKS	-1	MKKS_HUMAN	c.1015A>G	p.I339V	non-syn	rs137853909	0.00281	C=39/T=8561;C=0/T=4406;C=39/T=12967	-	TOLERATED	B	HGMD	het	19

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Transcripts and variants in the surrounding MKKS 20:10381657..10414870 region Gbrowse