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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 CLDN16:

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
ENSG00000113946	CLDN16	0	0	16	ENSG00000113946	ENST00000468220		claudin 16 [Source:HGNC Symbol;Acc:2037]	3	190040330	190129932	1	q28	190040330	190122719	CLDN16	CLDN16-003	HGNC Symbol	HGNC transcript name	3	37.26	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	10686	2037	CLDN16		27517

MSeqDR Master Exome Data Set M1: 61 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	3	190040397	C	T	ENST00000468220	ENSG00000113946	190040330	190129932	-	CLDN16	1	-	c.68C>T	p.P23L	non-syn	rs17501976	0.4722	-	-	-	-	-	hom	28
2	3	190040397	C	T	ENST00000468220	ENSG00000113946	190040330	190129932	-	CLDN16	1	-	c.68C>T	p.P23L	non-syn	rs17501976	0.4722	-	-	-	-	-	het	31
3	3	190040417	C	T	ENST00000468220	ENSG00000113946	190040330	190129932	-	CLDN16	1	-	c.88C>T	p.L30L	syn	rs34383070	0.0122	-	-	-	-	-	het	1
4	3	190040439	C	A	ENST00000468220	ENSG00000113946	190040330	190129932	-	CLDN16	1	-	c.110C>A	p.S37Y	non-syn	rs55641411	0.1867	-	-	-	-	-	het	1
5	3	190105773	T	C	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	3	190105868	C	T	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	-	-	5'_UTR	rs192579160	0.0043	T=0/C=8600;T=31/C=4375;T=31/C=12975	-	-	-	-	het	1
7	3	190105906	A	T	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	-	-	5'_UTR	rs200322099	-	T=0/A=8600;T=31/A=4375;T=31/A=12975	lod=37:355	-	-	-	het	2
8	3	190106071	A	-G	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	c.164_164del	p.R55NA	non-syn	rs56086318	-	-	-	-	-	-	het	369
9	3	190106071	A	-G	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	c.164_164del	p.R55NA	non-syn	rs56086318	-	-	-	-	-	-	hom	58
10	3	190106071	A	-G	ENST00000456423	ENSG00000113946	190040330	190129932	ENSP00000414136	CLDN16	1	-	c.164_164del	p.R55NA	non-syn	rs56086318	-	-	-	-	-	-	het	369
11	3	190106071	A	-G	ENST00000456423	ENSG00000113946	190040330	190129932	ENSP00000414136	CLDN16	1	-	c.164_164del	p.R55NA	non-syn	rs56086318	-	-	-	-	-	-	hom	58
12	3	190106109	G	T	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	c.201G>T	p.L67L	syn	NA	-	-	-	-	-	-	het	1
13	3	190106109	G	T	ENST00000456423	ENSG00000113946	190040330	190129932	ENSP00000414136	CLDN16	1	-	c.201G>T	p.L67L	syn	NA	-	-	-	-	-	-	het	1
14	3	190106163	C	G	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	c.255C>G	p.F85L	non-syn	rs149116671	0.0127	G=3/C=8597;G=6/C=4400;G=9/C=12997	lod=39:361	DAMAGING	D	-	het	1
15	3	190106163	C	G	ENST00000456423	ENSG00000113946	190040330	190129932	ENSP00000414136	CLDN16	1	-	c.255C>G	p.F85L	non-syn	rs149116671	0.0127	G=3/C=8597;G=6/C=4400;G=9/C=12997	lod=39:361	DAMAGING	D	-	het	1
16	3	190106206	A	G	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	c.298A>G	p.M100V	non-syn	NA	-	-	lod=256:562	DAMAGING	D	-	het	2
17	3	190106206	A	G	ENST00000456423	ENSG00000113946	190040330	190129932	ENSP00000414136	CLDN16	1	-	c.298A>G	p.M100V	non-syn	NA	-	-	lod=256:562	DAMAGING	D	-	het	2
18	3	190106219	A	G	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	c.311A>G	p.D104G	non-syn	NA	-	-	lod=256:562	DAMAGING	D	-	het	1
19	3	190106219	A	G	ENST00000456423	ENSG00000113946	190040330	190129932	ENSP00000414136	CLDN16	1	-	c.311A>G	p.D104G	non-syn	NA	-	-	lod=256:562	DAMAGING	D	-	het	1
20	3	190106242	T	C	ENST00000264734	ENSG00000113946	190040330	190129932	ENSP00000264734	CLDN16	1	CLD16_HUMAN	-	-	+10bp 5'_splice_site	rs1491994	0.21009	C=2133/T=6467;C=386/T=4020;C=2519/T=10487	-	-	-	-	hom	53

** 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 CLDN16 3:190040330..190129932 region Gbrowse