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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 GJC2:

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
ENSG00000198835	GJC2	1	5	13	ENSG00000198835	ENST00000366714	ENSP00000355675	gap junction protein, gamma 2, 47kDa [Source:HGNC Symbol;Acc:17494]	1	228337553	228347527	1	q42.13	228337553	228347527	GJC2	GJC2-001	HGNC Symbol	HGNC transcript name	1	62.41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	57165	17494	GJC2	NM_020435	27511

MSeqDR Master Exome Data Set M1: 38 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	1	228345606	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.147C>T	p.D49D	syn	rs139992251	-	T=4/C=8596;T=2/C=4404;T=6/C=13000	lod=604:654	-	-	-	het	1
2	1	228345744	G	A	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.285G>A	p.L95L	syn	rs148764840	-	A=2/G=8594;A=0/G=4406;A=2/G=13000	lod=98:459	-	-	-	het	3
3	1	228345921	G	A	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.462G>A	p.E154E	syn	NA	-	-	-	-	-	-	het	1
4	1	228345943	G	A	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.484G>A	p.A162T	non-syn	NA	-	-	lod=13:243	TOLERATED	B	-	het	1
5	1	228345987	G	A	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.528G>A	p.E176E	syn	rs201796910	-	-	-	-	-	-	het	1
6	1	228346034	C	G	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.575C>G	p.P192R	non-syn	NA	-	G=12/C=8254;G=0/C=4268;G=12/C=12522	-	TOLERATED	D	-	het	1
7	1	228346053	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.594C>T	p.H198H	syn	rs116557768	0.0313	T=341/C=8201;T=46/C=4328;T=387/C=12529	lod=413:613	-	-	-	hom	1
8	1	228346053	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.594C>T	p.H198H	syn	rs116557768	0.0313	T=341/C=8201;T=46/C=4328;T=387/C=12529	lod=413:613	-	-	-	het	59
9	1	228346372	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.913C>T	p.P305S	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
10	1	228346406	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.947C>T	p.P316L	non-syn	NA	-	-	-	TOLERATED	D	-	het	1
11	1	228346425	G	C	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.966G>C	p.A322A	syn	rs4653910	0.0657	-	-	-	-	-	het	8
12	1	228346425	G	C	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.966G>C	p.A322A	syn	rs4653910	0.0657	-	-	-	-	-	hom	1
13	1	228346467	G	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.1008G>T	p.V336V	syn	NA	-	-	lod=132:491	-	-	-	het	1
14	1	228346609	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.1150C>T	p.P384S	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
15	1	228346669	G	A	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.1210G>A	p.G404R	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
16	1	228346693	C	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.1234C>T	p.H412Y	non-syn	rs200334298	-	-	-	TOLERATED	B	-	het	3
17	1	228346712	A	-GCC	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	c.1254_1256del	p.K418NA	non-syn	NA	-	-	lod=28:325	-	-	-	het	1
18	1	228346784	G	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	-	-	3'_UTR	rs78587210	0.0165	T=0/G=5796;T=52/G=3104;T=52/G=8900	-	-	-	-	het	1
19	1	228346817	G	T	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	-	-	3'_UTR	rs144692877	0.0013	-	-	-	-	-	het	1
20	1	228346847	C	+CTT	ENST00000366714	ENSG00000198835	228337553	228347527	ENSP00000355675	GJC2	1	CXG2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding GJC2 1:228337553..228347527 region Gbrowse