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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 GJB3:

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
ENSG00000188910	GJB3	1	2	32	ENSG00000188910	ENST00000373366	ENSP00000362464	gap junction protein, beta 3, 31kDa [Source:HGNC Symbol;Acc:4285]	1	35246790	35251970	1	p34.3	35246790	35251965	GJB3	GJB3-002	HGNC Symbol	HGNC transcript name	2	56.92	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2707	4285	GJB3	NM_024009	27511

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	1	35250427	C	T	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.64C>T	p.R22C	non-syn	rs145247495	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=113:474	DAMAGING	D	-	het	2
2	1	35250427	C	T	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.64C>T	p.R22C	non-syn	rs145247495	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=113:474	DAMAGING	D	-	het	2
3	1	35250457	C	T	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.94C>T	p.R32W	non-syn	rs1805063	0.028	T=264/C=8336;T=36/C=4370;T=300/C=12706	lod=119:480	DAMAGING	D	Deafness, non-syndromic, autosomal recessive	het	64
4	1	35250457	C	T	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.94C>T	p.R32W	non-syn	rs1805063	0.028	T=264/C=8336;T=36/C=4370;T=300/C=12706	lod=119:480	DAMAGING	D	Deafness, non-syndromic, autosomal recessive	hom	1
5	1	35250457	C	T	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.94C>T	p.R32W	non-syn	rs1805063	0.028	T=264/C=8336;T=36/C=4370;T=300/C=12706	lod=119:480	DAMAGING	D	Deafness, non-syndromic, autosomal recessive	het	64
6	1	35250457	C	T	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.94C>T	p.R32W	non-syn	rs1805063	0.028	T=264/C=8336;T=36/C=4370;T=300/C=12706	lod=119:480	DAMAGING	D	Deafness, non-syndromic, autosomal recessive	hom	1
7	1	35250472	G	A	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.109G>A	p.V37M	non-syn	rs148388884	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=111:472	TOLERATED	B	-	het	2
8	1	35250472	G	A	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.109G>A	p.V37M	non-syn	rs148388884	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	lod=111:472	TOLERATED	B	-	het	2
9	1	35250524	A	C	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.161A>C	p.N54T	non-syn	NA	-	-	lod=195:533	DAMAGING	D	-	het	2
10	1	35250524	A	C	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.161A>C	p.N54T	non-syn	NA	-	-	lod=195:533	DAMAGING	D	-	het	2
11	1	35250703	G	A	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.340G>A	p.A114T	non-syn	rs199689484	-	-	lod=59:405	TOLERATED	B	-	het	1
12	1	35250703	G	A	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.340G>A	p.A114T	non-syn	rs199689484	-	-	lod=59:405	TOLERATED	B	-	het	1
13	1	35250720	C	T	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.357C>T	p.N119N	syn	rs41310442	0.0734	T=432/C=8168;T=439/C=3967;T=871/C=12135	-	-	-	-	hom	7
14	1	35250720	C	T	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.357C>T	p.N119N	syn	rs41310442	0.0734	T=432/C=8168;T=439/C=3967;T=871/C=12135	-	-	-	-	het	104
15	1	35250720	C	T	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.357C>T	p.N119N	syn	rs41310442	0.0734	T=432/C=8168;T=439/C=3967;T=871/C=12135	-	-	-	-	hom	7
16	1	35250720	C	T	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.357C>T	p.N119N	syn	rs41310442	0.0734	T=432/C=8168;T=439/C=3967;T=871/C=12135	-	-	-	-	het	104
17	1	35250840	G	A	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.477G>A	p.P159P	syn	rs61732640	0.0963	A=12/G=8588;A=380/G=4026;A=392/G=12614	lod=89:449	-	-	-	het	10
18	1	35250840	G	A	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.477G>A	p.P159P	syn	rs61732640	0.0963	A=12/G=8588;A=380/G=4026;A=392/G=12614	lod=89:449	-	-	-	het	10
19	1	35250842	G	A	ENST00000373362	ENSG00000188910	35246790	35251970	ENSP00000362460	GJB3	1	CXB3_HUMAN	c.479G>A	p.R160H	non-syn	rs200055020	-	A=4/G=8596;A=2/G=4404;A=6/G=13000	lod=89:449	TOLERATED	B	-	het	3
20	1	35250842	G	A	ENST00000373366	ENSG00000188910	35246790	35251970	ENSP00000362464	GJB3	1	CXB3_HUMAN	c.479G>A	p.R160H	non-syn	rs200055020	-	A=4/G=8596;A=2/G=4404;A=6/G=13000	lod=89:449	TOLERATED	B	-	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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Transcripts and variants in the surrounding GJB3 1:35246790..35251970 region Gbrowse