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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 SMC1A:

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
ENSG00000269384	SMC1A	0	0	57	ENSG00000269384	ENST00000594240	ENSP00000471583	structural maintenance of chromosomes 1A [Source:HGNC Symbol;Acc:11111]	HG1433_PATCH	53117149	53165728	-1	p11.22	53117149	53165728	SMC1A	SMC1A-001	HGNC Symbol	HGNC transcript name	6	45.54	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8243	11111	SMC1A		0
ENSG00000072501	SMC1A	0	0	57	ENSG00000072501	ENST00000322213	ENSP00000323421	structural maintenance of chromosomes 1A [Source:HGNC Symbol;Acc:11111]	X	53401070	53449677	-1	p11.22	53401070	53449677	SMC1A	SMC1A-001	HGNC Symbol	HGNC transcript name	6	45.52	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8243	11111	SMC1A	NM_001281463	27516

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MSeqDR Master Exome Data Set M1: 79 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	X	53401078	G	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	X	53401078	G	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
3	X	53401535	C	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	X	53401543	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs147896900	0.0326	-	-	-	-	-	het	4
5	X	53401543	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs147896900	0.0326	-	-	-	-	-	hom	1
6	X	53401644	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs186354950	0.00585	-	lod=16:265	-	-	-	het	16
7	X	53401644	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs186354950	0.00585	-	lod=16:265	-	-	-	hom	7
8	X	53401656	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
9	X	53401669	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	X	53401811	C	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
11	X	53401983	T	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
12	X	53402070	G	-GT	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	X	53402379	A	G	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs150365487	0.00574	-	-	-	-	-	het	11
14	X	53402379	A	G	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs150365487	0.00574	-	-	-	-	-	hom	2
15	X	53402397	G	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	X	53402551	T	G	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	X	53403186	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs144702614	0.0127	-	-	-	-	-	hom	11
18	X	53403186	C	T	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs144702614	0.0127	-	-	-	-	-	het	6
19	X	53403247	G	C	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs41315082	-	-	-	-	-	-	hom	1
20	X	53403603	C	A	ENST00000322213	ENSG00000072501	53401070	53449677	ENSP00000323421	SMC1A	-1	SMC1A_HUMAN	-	-	3'_UTR	rs41304780	0.00285	-	-	-	-	-	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 SMC1A X:53401070..53449677 region Gbrowse