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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 ENSG00000146926:

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
ENSG00000146926	ASB10	0	0	52	ENSG00000146926	ENST00000275838	ENSP00000275838	ankyrin repeat and SOCS box containing 10 [Source:HGNC Symbol;Acc:17185]	7	150872785	150884919	-1	q36.1	150872785	150884478	ASB10	ASB10-002	HGNC Symbol	HGNC transcript name	6	53.7	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	136371	17185	ASB10		27506

MSeqDR Master Exome Data Set M1: 236 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	7	150873046	A	G	ENST00000275838	ENSG00000146926	150872785	150884919	ENSP00000275838	ASB10	-1	ASB10_HUMAN	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	het	109
2	7	150873046	A	G	ENST00000275838	ENSG00000146926	150872785	150884919	ENSP00000275838	ASB10	-1	ASB10_HUMAN	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	hom	52
3	7	150873046	A	G	ENST00000377867	ENSG00000146926	150872785	150884919	ENSP00000367098	ASB10	-1	ASB10_HUMAN	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	het	109
4	7	150873046	A	G	ENST00000377867	ENSG00000146926	150872785	150884919	ENSP00000367098	ASB10	-1	ASB10_HUMAN	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	hom	52
5	7	150873046	A	G	ENST00000420175	ENSG00000146926	150872785	150884919	ENSP00000391137	ASB10	-1	ASB10_HUMAN	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	het	109
6	7	150873046	A	G	ENST00000420175	ENSG00000146926	150872785	150884919	ENSP00000391137	ASB10	-1	ASB10_HUMAN	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	hom	52
7	7	150873046	A	G	ENST00000422024	ENSG00000146926	150872785	150884919	ENSP00000401369	ASB10	-1	-	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	het	109
8	7	150873046	A	G	ENST00000422024	ENSG00000146926	150872785	150884919	ENSP00000401369	ASB10	-1	-	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	hom	52
9	7	150873046	A	G	ENST00000434669	ENSG00000146926	150872785	150884919	ENSP00000398247	ASB10	-1	-	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	het	109
10	7	150873046	A	G	ENST00000434669	ENSG00000146926	150872785	150884919	ENSP00000398247	ASB10	-1	-	-	-	3'_UTR	rs310597	0.6477	-	-	-	-	-	hom	52
11	7	150873181	A	T	ENST00000275838	ENSG00000146926	150872785	150884919	ENSP00000275838	ASB10	-1	ASB10_HUMAN	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
12	7	150873181	A	T	ENST00000377867	ENSG00000146926	150872785	150884919	ENSP00000367098	ASB10	-1	ASB10_HUMAN	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
13	7	150873181	A	T	ENST00000420175	ENSG00000146926	150872785	150884919	ENSP00000391137	ASB10	-1	ASB10_HUMAN	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
14	7	150873181	A	T	ENST00000422024	ENSG00000146926	150872785	150884919	ENSP00000401369	ASB10	-1	-	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
15	7	150873181	A	T	ENST00000434669	ENSG00000146926	150872785	150884919	ENSP00000398247	ASB10	-1	-	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	7	150873246	G	A	ENST00000275838	ENSG00000146926	150872785	150884919	ENSP00000275838	ASB10	-1	ASB10_HUMAN	c.1243C>T	p.R415C	non-syn	rs3800791	0.1563	A=16/G=8550;A=102/G=4278;A=118/G=12828	-	TOLERATED	B	-	het	6
17	7	150873246	G	A	ENST00000377867	ENSG00000146926	150872785	150884919	ENSP00000367098	ASB10	-1	ASB10_HUMAN	c.1312C>T	p.R438C	non-syn	rs3800791	0.1563	A=16/G=8550;A=102/G=4278;A=118/G=12828	-	TOLERATED	B	-	het	6
18	7	150873246	G	A	ENST00000420175	ENSG00000146926	150872785	150884919	ENSP00000391137	ASB10	-1	ASB10_HUMAN	c.1357C>T	p.R453C	non-syn	rs3800791	0.1563	A=16/G=8550;A=102/G=4278;A=118/G=12828	-	TOLERATED	B	-	het	6
19	7	150873246	G	A	ENST00000422024	ENSG00000146926	150872785	150884919	ENSP00000401369	ASB10	-1	-	c.1492C>T	p.R498C	non-syn	rs3800791	0.1563	A=16/G=8550;A=102/G=4278;A=118/G=12828	-	TOLERATED	B	-	het	6
20	7	150873246	G	A	ENST00000434669	ENSG00000146926	150872785	150884919	ENSP00000398247	ASB10	-1	-	c.1378C>T	p.R460C	non-syn	rs3800791	0.1563	A=16/G=8550;A=102/G=4278;A=118/G=12828	-	TOLERATED	B	-	het	6

** 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 ASB10 7:150872785..150884919 region Gbrowse