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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 CLCN5:

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
ENSG00000269240	CLCN5	0	0	30	ENSG00000269240	ENST00000594930	ENSP00000470026	chloride channel, voltage-sensitive 5 [Source:HGNC Symbol;Acc:2023]	HG1436_HG1432_PATCH	49732014	49908634	1	p11.23	49732014	49908634	CLCN5	CLCN5-001	HGNC Symbol	HGNC transcript name	5	39.57	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1184	2023	CLCN5	NM_001282163	0
ENSG00000171365	CLCN5	0	0	30	ENSG00000171365	ENST00000376088	ENSP00000365256	chloride channel, voltage-sensitive 5 [Source:HGNC Symbol;Acc:2023]	X	49687225	49863892	1	p11.23	49687225	49863892	CLCN5	CLCN5-001	HGNC Symbol	HGNC transcript name	5	39.55	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1184	2023	CLCN5	NM_001127899	27516

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MSeqDR Master Exome Data Set M1: 152 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	49689809	C	-AG	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	X	49689809	C	-AG	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
3	X	49689809	C	-AG	ENST00000376091	ENSG00000171365	49687225	49863892	ENSP00000365259	CLCN5	1	CLCN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	X	49689809	C	-AG	ENST00000376091	ENSG00000171365	49687225	49863892	ENSP00000365259	CLCN5	1	CLCN5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
5	X	49689809	C	-AG	ENST00000482218	ENSG00000171365	49687225	49863892	-	CLCN5	1	-	c.114_115del	p.T38NA	non-syn	NA	-	-	-	-	-	-	het	1
6	X	49689809	C	-AG	ENST00000482218	ENSG00000171365	49687225	49863892	-	CLCN5	1	-	c.114_115del	p.T38NA	non-syn	NA	-	-	-	-	-	-	hom	1
7	X	49806974	G	T	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	c.66G>T	p.Q22H	non-syn	NA	-	-	lod=227:549	TOLERATED	-	-	het	1
8	X	49806974	G	T	ENST00000376091	ENSG00000171365	49687225	49863892	ENSP00000365259	CLCN5	1	CLCN5_HUMAN	c.66G>T	p.Q22H	non-syn	NA	-	-	lod=227:549	TOLERATED	-	-	het	1
9	X	49806974	G	T	ENST00000482218	ENSG00000171365	49687225	49863892	-	CLCN5	1	-	c.279G>T	p.Q93H	non-syn	NA	-	-	lod=227:549	TOLERATED	-	-	het	1
10	X	49807016	C	T	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	c.108C>T	p.T36T	syn	rs111464924	0.1366	T=3/C=5479;T=536/C=2085;T=539/C=7564	lod=132:491	-	-	-	het	3
11	X	49807016	C	T	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	c.108C>T	p.T36T	syn	rs111464924	0.1366	T=3/C=5479;T=536/C=2085;T=539/C=7564	lod=132:491	-	-	-	hom	3
12	X	49807016	C	T	ENST00000376091	ENSG00000171365	49687225	49863892	ENSP00000365259	CLCN5	1	CLCN5_HUMAN	c.108C>T	p.T36T	syn	rs111464924	0.1366	T=3/C=5479;T=536/C=2085;T=539/C=7564	lod=132:491	-	-	-	het	3
13	X	49807016	C	T	ENST00000376091	ENSG00000171365	49687225	49863892	ENSP00000365259	CLCN5	1	CLCN5_HUMAN	c.108C>T	p.T36T	syn	rs111464924	0.1366	T=3/C=5479;T=536/C=2085;T=539/C=7564	lod=132:491	-	-	-	hom	3
14	X	49807016	C	T	ENST00000482218	ENSG00000171365	49687225	49863892	-	CLCN5	1	-	c.321C>T	p.T107T	syn	rs111464924	0.1366	T=3/C=5479;T=536/C=2085;T=539/C=7564	lod=132:491	-	-	-	het	3
15	X	49807016	C	T	ENST00000482218	ENSG00000171365	49687225	49863892	-	CLCN5	1	-	c.321C>T	p.T107T	syn	rs111464924	0.1366	T=3/C=5479;T=536/C=2085;T=539/C=7564	lod=132:491	-	-	-	hom	3
16	X	49837127	T	G	ENST00000307367	ENSG00000171365	49687225	49863892	ENSP00000304257	CLCN5	1	CLCN5_HUMAN	-	-	-17bp 3'_splice_site	rs56117808	0.0019	G=50/T=6678;G=2/T=3833;G=52/T=10511	-	-	-	HGMD	het	12
17	X	49837127	T	G	ENST00000307367	ENSG00000171365	49687225	49863892	ENSP00000304257	CLCN5	1	CLCN5_HUMAN	-	-	-17bp 3'_splice_site	rs56117808	0.0019	G=50/T=6678;G=2/T=3833;G=52/T=10511	-	-	-	HGMD	hom	6
18	X	49837127	T	G	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	-	-	-17bp 3'_splice_site	rs56117808	0.0019	G=50/T=6678;G=2/T=3833;G=52/T=10511	-	-	-	HGMD	het	12
19	X	49837127	T	G	ENST00000376088	ENSG00000171365	49687225	49863892	ENSP00000365256	CLCN5	1	CLCN5_HUMAN	-	-	-17bp 3'_splice_site	rs56117808	0.0019	G=50/T=6678;G=2/T=3833;G=52/T=10511	-	-	-	HGMD	hom	6
20	X	49837127	T	G	ENST00000376091	ENSG00000171365	49687225	49863892	ENSP00000365259	CLCN5	1	CLCN5_HUMAN	-	-	-17bp 3'_splice_site	rs56117808	0.0019	G=50/T=6678;G=2/T=3833;G=52/T=10511	-	-	-	HGMD	het	12

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Transcripts and variants in the surrounding CLCN5 X:49687225..49863892 region Gbrowse