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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 CA2:

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
ENSG00000104267	CA2	0	0	7	ENSG00000104267	ENST00000285379	ENSP00000285379	carbonic anhydrase II [Source:HGNC Symbol;Acc:1373]	8	86376081	86393722	1	q21.2	86376081	86393722	CA2	CA2-001	HGNC Symbol	HGNC transcript name	5	38.7	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	760	1373	CA2	NM_000067	27523

MSeqDR Master Exome Data Set M1: 33 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	8	86376130	A	C	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	-	-	5'_UTR	NA	-	-	lod=13:243	-	-	-	het	1
2	8	86376130	A	T	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	-	-	5'_UTR	rs11261477	0.9919	-	lod=13:243	-	-	-	het	21
3	8	86376130	A	T	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	-	-	5'_UTR	rs11261477	0.9919	-	lod=13:243	-	-	-	hom	653
4	8	86376181	C	A	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	-	-	5'_UTR	NA	-	-	lod=30:333	-	-	-	het	8
5	8	86376181	C	A	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	-	-	5'_UTR	NA	-	-	lod=30:333	-	-	-	hom	1
6	8	86386124	A	C	ENST00000518231	ENSG00000104267	86376081	86393722	-	CA2	1	-	c.506A>C	p.K169T	non-syn	NA	-	-	-	-	-	-	het	3
7	8	86386697	C	T	ENST00000520996	ENSG00000104267	86376081	86393722	-	CA2	1	-	c.575C>T	p.P192L	non-syn	rs112597132	0.04731	T=226/C=4392;T=26/C=2628;T=252/C=7020	-	-	-	-	het	87
8	8	86386697	C	T	ENST00000520996	ENSG00000104267	86376081	86393722	-	CA2	1	-	c.575C>T	p.P192L	non-syn	rs112597132	0.04731	T=226/C=4392;T=26/C=2628;T=252/C=7020	-	-	-	-	hom	3
9	8	86386699	G	C	ENST00000520996	ENSG00000104267	86376081	86393722	-	CA2	1	-	c.577G>C	p.D193H	non-syn	NA	-	-	-	-	-	-	het	4
10	8	86388044	G	A	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	c.462G>A	p.P154P	syn	rs140623407	-	A=6/G=8594;A=0/G=4406;A=6/G=13000	-	-	-	-	het	2
11	8	86388044	G	A	ENST00000520127	ENSG00000104267	86376081	86393722	ENSP00000428443	CA2	1	-	-	-	3'_UTR	rs140623407	-	A=6/G=8594;A=0/G=4406;A=6/G=13000	-	-	-	-	het	2
12	8	86388044	G	A	ENST00000522742	ENSG00000104267	86376081	86393722	ENSP00000428947	CA2	1	-	-	-	3'_UTR	rs140623407	-	A=6/G=8594;A=0/G=4406;A=6/G=13000	-	-	-	-	het	2
13	8	86388085	C	G	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	c.503C>G	p.T168R	non-syn	NA	-	-	lod=81:439	DAMAGING	D	-	het	2
14	8	86388085	C	G	ENST00000520127	ENSG00000104267	86376081	86393722	ENSP00000428443	CA2	1	-	-	-	3'_UTR	NA	-	-	lod=81:439	DAMAGING	D	-	het	2
15	8	86388085	C	G	ENST00000522742	ENSG00000104267	86376081	86393722	ENSP00000428947	CA2	1	-	-	-	3'_UTR	NA	-	-	lod=81:439	DAMAGING	D	-	het	2
16	8	86389403	T	C	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	c.562T>C	p.L188L	syn	rs703	0.59963	C=5290/T=3310;C=3074/T=1332;C=8364/T=4642	lod=77:433	-	-	-	het	506
17	8	86389403	T	C	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	c.562T>C	p.L188L	syn	rs703	0.59963	C=5290/T=3310;C=3074/T=1332;C=8364/T=4642	lod=77:433	-	-	-	hom	385
18	8	86389403	T	C	ENST00000520127	ENSG00000104267	86376081	86393722	ENSP00000428443	CA2	1	-	-	-	3'_UTR	rs703	0.59963	C=5290/T=3310;C=3074/T=1332;C=8364/T=4642	lod=77:433	-	-	-	het	506
19	8	86389403	T	C	ENST00000520127	ENSG00000104267	86376081	86393722	ENSP00000428443	CA2	1	-	-	-	3'_UTR	rs703	0.59963	C=5290/T=3310;C=3074/T=1332;C=8364/T=4642	lod=77:433	-	-	-	hom	385
20	8	86389489	C	T	ENST00000285379	ENSG00000104267	86376081	86393722	ENSP00000285379	CA2	1	CAH2_HUMAN	c.648C>T	p.S216S	syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2

** 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 CA2 8:86376081..86393722 region Gbrowse