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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 ENSG00000165995:

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
ENSG00000165995	CACNB2	0	0	64	ENSG00000165995	ENST00000324631	ENSP00000320025	calcium channel, voltage-dependent, beta 2 subunit [Source:HGNC Symbol;Acc:1402]	10	18429606	18830798	1	p12.33	18429606	18830056	CACNB2	CACNB2-001	HGNC Symbol	HGNC transcript name	12	40.47	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	783	1402	CACNB2	NM_201593	27525

MSeqDR Master Exome Data Set M1: 663 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	10	18429608	G	A	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs182530836	0.0213	-	-	-	-	-	het	7
2	10	18429624	C	A	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs138094231	0.0392	A=241/C=7377;A=176/C=3484;A=417/C=10861	-	-	-	-	het	52
3	10	18429624	C	A	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs138094231	0.0392	A=241/C=7377;A=176/C=3484;A=417/C=10861	-	-	-	-	hom	6
4	10	18429630	G	A	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs189082354	0.021	A=1/G=7989;A=63/G=3891;A=64/G=11880	-	-	-	-	het	8
5	10	18429635	G	A	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	NA	-	A=3/G=8171;A=0/G=4094;A=3/G=12265	-	-	-	-	het	1
6	10	18429636	G	A	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	NA	-	A=3/G=8209;A=0/G=4142;A=3/G=12351	-	-	-	-	het	5
7	10	18429760	C	T	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	c.95C>T	p.A32V	non-syn	NA	-	-	lod=123:483	TOLERATED	B	-	het	1
8	10	18429760	C	T	ENST00000352115	ENSG00000165995	18429606	18830798	ENSP00000344474	CACNB2	1	CACB2_HUMAN	c.95C>T	p.A32V	non-syn	NA	-	-	lod=123:483	TOLERATED	B	-	het	1
9	10	18429760	C	T	ENST00000377328	ENSG00000165995	18429606	18830798	ENSP00000366545	CACNB2	1	-	c.95C>T	p.A32V	non-syn	NA	-	-	lod=123:483	TOLERATED	B	-	het	1
10	10	18429760	C	T	ENST00000467034	ENSG00000165995	18429606	18830798	-	CACNB2	1	-	c.40C>T	p.R14W	non-syn	NA	-	-	lod=123:483	TOLERATED	B	-	het	1
11	10	18429760	C	T	ENST00000468177	ENSG00000165995	18429606	18830798	-	CACNB2	1	-	c.85C>T	p.R29W	non-syn	NA	-	-	lod=123:483	TOLERATED	B	-	het	1
12	10	18429896	C	T	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	10	18429898	C	G	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
14	10	18429966	G	C	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs114546413	0.0342	-	-	-	-	-	het	8
15	10	18429981	C	G	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs117750299	0.0218	-	-	-	-	-	het	56
16	10	18429981	C	G	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs117750299	0.0218	-	-	-	-	-	hom	3
17	10	18430027	A	C	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	NA	-	-	lod=18:278	-	-	-	het	11
18	10	18430072	C	T	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	5'_UTR	rs115602110	0.0187	T=0/C=8088;T=45/C=4099;T=45/C=12187	-	-	-	-	het	3
19	10	18439802	T	+TTN	ENST00000282343	ENSG00000165995	18429606	18830798	ENSP00000282343	CACNB2	1	CACB2_HUMAN	-	-	-10bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1
20	10	18439802	T	+TTN	ENST00000324631	ENSG00000165995	18429606	18830798	ENSP00000320025	CACNB2	1	CACB2_HUMAN	-	-	-10bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1

** 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 CACNB2 10:18429606..18830798 region Gbrowse