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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 ENSG00000121742:

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
ENSG00000121742	GJB6	1	7	21	ENSG00000121742	ENST00000241124	ENSP00000241124	gap junction protein, beta 6, 30kDa [Source:HGNC Symbol;Acc:4288]	13	20796110	20806534	-1	q12.11	20796110	20805117	GJB6	GJB6-001	HGNC Symbol	HGNC transcript name	4	46.33	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	10804	4288	GJB6	NM_006783	27513

MSeqDR Master Exome Data Set M1: 64 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	13	20796120	G	A	ENST00000241124	ENSG00000121742	20796110	20806534	ENSP00000241124	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs76179836	0.01277	-	-	-	-	-	het	12
2	13	20796120	G	A	ENST00000356192	ENSG00000121742	20796110	20806534	ENSP00000348521	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs76179836	0.01277	-	-	-	-	-	het	12
3	13	20796120	G	A	ENST00000400065	ENSG00000121742	20796110	20806534	ENSP00000382938	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs76179836	0.01277	-	-	-	-	-	het	12
4	13	20796120	G	A	ENST00000400066	ENSG00000121742	20796110	20806534	ENSP00000382939	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs76179836	0.01277	-	-	-	-	-	het	12
5	13	20796123	G	A	ENST00000241124	ENSG00000121742	20796110	20806534	ENSP00000241124	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	13	20796123	G	A	ENST00000356192	ENSG00000121742	20796110	20806534	ENSP00000348521	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	13	20796123	G	A	ENST00000400065	ENSG00000121742	20796110	20806534	ENSP00000382938	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	13	20796123	G	A	ENST00000400066	ENSG00000121742	20796110	20806534	ENSP00000382939	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	13	20796206	C	A	ENST00000241124	ENSG00000121742	20796110	20806534	ENSP00000241124	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	13	20796206	C	A	ENST00000356192	ENSG00000121742	20796110	20806534	ENSP00000348521	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	13	20796206	C	A	ENST00000400065	ENSG00000121742	20796110	20806534	ENSP00000382938	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	13	20796206	C	A	ENST00000400066	ENSG00000121742	20796110	20806534	ENSP00000382939	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	13	20796221	A	C	ENST00000241124	ENSG00000121742	20796110	20806534	ENSP00000241124	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs41292217	0.00277	-	-	-	-	-	het	2
14	13	20796221	A	C	ENST00000356192	ENSG00000121742	20796110	20806534	ENSP00000348521	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs41292217	0.00277	-	-	-	-	-	het	2
15	13	20796221	A	C	ENST00000400065	ENSG00000121742	20796110	20806534	ENSP00000382938	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs41292217	0.00277	-	-	-	-	-	het	2
16	13	20796221	A	C	ENST00000400066	ENSG00000121742	20796110	20806534	ENSP00000382939	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	rs41292217	0.00277	-	-	-	-	-	het	2
17	13	20796273	G	A	ENST00000241124	ENSG00000121742	20796110	20806534	ENSP00000241124	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	13	20796273	G	A	ENST00000356192	ENSG00000121742	20796110	20806534	ENSP00000348521	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	13	20796273	G	A	ENST00000400065	ENSG00000121742	20796110	20806534	ENSP00000382938	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	13	20796273	G	A	ENST00000400066	ENSG00000121742	20796110	20806534	ENSP00000382939	GJB6	-1	CXB6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3

** 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 GJB6 13:20796110..20806534 region Gbrowse