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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 ERCC6:

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
ENSG00000225830	ERCC6	0	0	43	ENSG00000225830	ENST00000355832	ENSP00000348089	excision repair cross-complementing rodent repair deficiency, complementation group 6 [Source:HGNC Symbol;Acc:3438]	10	50663414	50747584	-1	q11.23	50663414	50747072	ERCC6	ERCC6-001	HGNC Symbol	HGNC transcript name	6	40.54	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2074	3438	ERCC6	NM_000124	27525

MSeqDR Master Exome Data Set M1: 192 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	10	50663466	T	G	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs142122327	0.0084	-	-	-	-	-	het	2
2	10	50663581	T	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs146690522	0.00091	-	-	-	-	-	het	8
3	10	50663600	G	T	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	10	50663676	T	A	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs113444430	-	-	-	-	-	-	het	2
5	10	50663915	G	A	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs146529081	0.012	-	-	-	-	-	het	3
6	10	50663936	T	-GGCAAG	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	10	50664095	A	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs141121035	0.00739	-	-	-	-	-	het	16
8	10	50664132	C	T	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	10	50664181	T	G	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs35471849	0.00364	-	-	-	-	-	het	7
10	10	50664259	T	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs41281953	0.00362	-	-	-	-	-	het	6
11	10	50664706	A	G	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs114183603	0.0086	-	-	-	-	-	het	3
12	10	50664724	T	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs114723899	0.0156	-	-	-	-	-	het	5
13	10	50664742	G	A	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs149294198	0.0114	-	-	-	-	-	het	5
14	10	50664742	G	A	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs149294198	0.0114	-	-	-	-	-	hom	1
15	10	50664785	G	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	10	50664879	C	+A	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
17	10	50664894	C	-AAT	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs147228327	-	-	-	-	-	-	hom	1
18	10	50664894	C	-AAT	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs147228327	-	-	-	-	-	-	het	71
19	10	50664928	T	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	10	50665004	T	C	ENST00000355832	ENSG00000225830	50663414	50747584	ENSP00000348089	ERCC6	-1	ERCC6_HUMAN	-	-	3'_UTR	rs111604526	-	-	-	-	-	-	het	2

** 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 ERCC6 10:50663414..50747584 region Gbrowse