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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 SIX6:

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
ENSG00000184302	SIX6	0	0	3	ENSG00000184302	ENST00000327720	ENSP00000328596	SIX homeobox 6 [Source:HGNC Symbol;Acc:10892]	14	60975669	60979568	1	q23.1	60975669	60979568	SIX6	SIX6-001	HGNC Symbol	HGNC transcript name	1	53.05	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4990	10892	SIX6	NM_007374	27520

MSeqDR Master Exome Data Set M1: 31 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	14	60975760	T	G	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	-	-	lod=104:466	-	-	-	het	1
2	14	60975822	A	+G	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	-	-	lod=297:578	-	-	-	het	5
3	14	60975943	C	G	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
4	14	60975956	T	C	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	rs1956558	0.8974	-	-	TOLERATED	-	-	het	150
5	14	60975956	T	C	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	rs1956558	0.8974	-	-	TOLERATED	-	-	hom	658
6	14	60975968	C	T	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
7	14	60975970	T	C	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	0.0148	-	-	-	-	-	het	2
8	14	60975971	T	C	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	2
9	14	60975990	G	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	14	60976137	G	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.21G>A	p.L7L	syn	rs61746410	0.0382	A=271/G=8323;A=28/G=4378;A=299/G=12701	lod=886:695	-	-	-	het	35
11	14	60976137	G	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.21G>A	p.L7L	syn	rs61746410	0.0382	A=271/G=8323;A=28/G=4378;A=299/G=12701	lod=886:695	-	-	-	hom	1
12	14	60976501	G	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.385G>A	p.E129K	non-syn	rs146737847	-	A=54/G=8546;A=5/G=4401;A=59/G=12947	lod=458:624	DAMAGING	B	-	het	15
13	14	60976537	C	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.421C>A	p.H141N	non-syn	rs33912345	0.6326	A=5151/C=3447;A=514/C=3892;A=5665/C=7339	lod=222:547	TOLERATED	B	-	het	432
14	14	60976537	C	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.421C>A	p.H141N	non-syn	rs33912345	0.6326	A=5151/C=3447;A=514/C=3892;A=5665/C=7339	lod=222:547	TOLERATED	B	-	hom	292
15	14	60976625	C	T	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.509C>T	p.T170M	non-syn	NA	-	-	lod=849:690	DAMAGING	P	-	het	1
16	14	60977796	C	T	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1
17	14	60977843	T	G	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.614T>G	p.L205R	non-syn	rs45549246	0.0026	G=22/T=8552;G=0/T=4380;G=22/T=12932	lod=325:587	TOLERATED	B	-	het	10
18	14	60977865	G	C	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.636G>C	p.T212T	syn	rs140601427	0.0068	C=5/G=8559;C=0/G=4384;C=5/G=12943	lod=325:587	-	-	-	het	2
19	14	60977866	C	T	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.637C>T	p.P213S	non-syn	rs201560655	-	-	lod=325:587	TOLERATED	B	-	het	1
20	14	60977966	T	A	ENST00000327720	ENSG00000184302	60975669	60979568	ENSP00000328596	SIX6	1	SIX6_HUMAN	c.737T>A	p.I246N	non-syn	rs114981075	0.0033	A=0/T=8596;A=17/T=4387;A=17/T=12983	lod=495:632	DAMAGING	B	-	het	4

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SIX6 14:60975669..60979568 region Gbrowse