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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 ATXN10:

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
ENSG00000130638	ATXN10	1	0	7	ENSG00000130638	ENST00000252934	ENSP00000252934	ataxin 10 [Source:HGNC Symbol;Acc:10549]	22	46067678	46241187	1	q13.31	46067679	46241187	ATXN10	ATXN10-001	HGNC Symbol	HGNC transcript name	11	40.57	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	25814	10549	ATXN10	NM_013236	27510

MSeqDR Master Exome Data Set M1: 121 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	22	46067693	C	T	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs144270457	0.0387	-	-	-	-	-	hom	2
2	22	46067693	C	T	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs144270457	0.0387	-	-	-	-	-	het	48
3	22	46067693	C	T	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs144270457	0.0387	-	-	-	-	-	hom	2
4	22	46067693	C	T	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs144270457	0.0387	-	-	-	-	-	het	48
5	22	46067707	C	T	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs181426280	0.0134	-	-	-	-	-	het	24
6	22	46067707	C	T	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs181426280	0.0134	-	-	-	-	-	het	24
7	22	46067840	C	T	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs114149373	0.0265	-	-	-	-	-	het	1
8	22	46067840	C	T	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	rs114149373	0.0265	-	-	-	-	-	het	1
9	22	46067841	C	T	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
10	22	46067841	C	T	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	22	46067852	G	A	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	22	46067852	G	A	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	22	46068019	C	T	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	c.76C>T	p.L26L	syn	rs186793141	0.0042	-	lod=65:415	-	-	-	het	1
14	22	46068019	C	T	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	c.76C>T	p.L26L	syn	rs186793141	0.0042	-	lod=65:415	-	-	-	het	1
15	22	46068039	C	G	ENST00000252934	ENSG00000130638	46067678	46241187	ENSP00000252934	ATXN10	1	ATX10_HUMAN	c.96C>G	p.L32L	syn	NA	-	-	lod=65:415	-	-	-	het	1
16	22	46068039	C	G	ENST00000381061	ENSG00000130638	46067678	46241187	ENSP00000370449	ATXN10	1	ATX10_HUMAN	c.96C>G	p.L32L	syn	NA	-	-	lod=65:415	-	-	-	het	1
17	22	46068144	G	A	ENST00000498009	ENSG00000130638	46067678	46241187	-	ATXN10	1	-	c.77G>A	p.R26H	non-syn	rs2071872	0.1939	-	-	-	-	-	hom	12
18	22	46068144	G	A	ENST00000498009	ENSG00000130638	46067678	46241187	-	ATXN10	1	-	c.77G>A	p.R26H	non-syn	rs2071872	0.1939	-	-	-	-	-	het	144
19	22	46068144	G	C	ENST00000498009	ENSG00000130638	46067678	46241187	-	ATXN10	1	-	c.77G>C	p.R26P	non-syn	NA	-	-	-	-	-	-	het	1
20	22	46068148	C	A	ENST00000498009	ENSG00000130638	46067678	46241187	-	ATXN10	1	-	c.81C>A	p.P27P	syn	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ATXN10 22:46067678..46241187 region Gbrowse