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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 CACNA1F:

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
ENSG00000269057	CACNA1F	1	0	24	ENSG00000269057	ENST00000601604	ENSP00000469529	calcium channel, voltage-dependent, L type, alpha 1F subunit [Source:HGNC Symbol;Acc:1393]	HG1436_HG1432_PATCH	49064462	49092770	-1	p11.23	49064462	49092708	CACNA1F	CACNA1F-002	HGNC Symbol	HGNC transcript name	6	52.86	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	778	1393	CACNA1F		0
ENSG00000102001	CACNA1F	1	1	24	ENSG00000102001	ENST00000376251	ENSP00000365427	calcium channel, voltage-dependent, L type, alpha 1F subunit [Source:HGNC Symbol;Acc:1393]	X	49061523	49089833	-1	p11.23	49061523	49089771	CACNA1F	CACNA1F-002	HGNC Symbol	HGNC transcript name	6	52.87	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	778	1393	CACNA1F	NM_001256790	27516

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MSeqDR Master Exome Data Set M1: 196 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	49061669	G	A	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5829C>T	p.D1943D	syn	rs138189763	0.0033	A=35/G=6693;A=2/G=3833;A=37/G=10526	lod=21:295	-	-	-	het	7
2	X	49061669	G	A	ENST00000376251	ENSG00000102001	49061523	49089833	ENSP00000365427	CACNA1F	-1	CAC1F_HUMAN	c.5667C>T	p.D1889D	syn	rs138189763	0.0033	A=35/G=6693;A=2/G=3833;A=37/G=10526	lod=21:295	-	-	-	het	7
3	X	49061669	G	A	ENST00000376265	ENSG00000102001	49061523	49089833	ENSP00000365441	CACNA1F	-1	CAC1F_HUMAN	c.5862C>T	p.D1954D	syn	rs138189763	0.0033	A=35/G=6693;A=2/G=3833;A=37/G=10526	lod=21:295	-	-	-	het	7
4	X	49061718	T	C	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5780A>G	p.N1927S	non-syn	NA	-	-	lod=218:545	TOLERATED	B	-	het	1
5	X	49061718	T	C	ENST00000376251	ENSG00000102001	49061523	49089833	ENSP00000365427	CACNA1F	-1	CAC1F_HUMAN	c.5618A>G	p.N1873S	non-syn	NA	-	-	lod=218:545	TOLERATED	B	-	het	1
6	X	49061718	T	C	ENST00000376265	ENSG00000102001	49061523	49089833	ENSP00000365441	CACNA1F	-1	CAC1F_HUMAN	c.5813A>G	p.N1938S	non-syn	NA	-	-	lod=218:545	TOLERATED	B	-	het	1
7	X	49061742	C	T	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5756G>A	p.R1919H	non-syn	rs33910054	0.1164	T=569/C=6159;T=82/C=3753;T=651/C=9912	lod=80:437	TOLERATED	B	-	het	61
8	X	49061742	C	T	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5756G>A	p.R1919H	non-syn	rs33910054	0.1164	T=569/C=6159;T=82/C=3753;T=651/C=9912	lod=80:437	TOLERATED	B	-	hom	35
9	X	49061742	C	T	ENST00000376251	ENSG00000102001	49061523	49089833	ENSP00000365427	CACNA1F	-1	CAC1F_HUMAN	c.5594G>A	p.R1865H	non-syn	rs33910054	0.1164	T=569/C=6159;T=82/C=3753;T=651/C=9912	lod=80:437	TOLERATED	B	-	het	61
10	X	49061742	C	T	ENST00000376251	ENSG00000102001	49061523	49089833	ENSP00000365427	CACNA1F	-1	CAC1F_HUMAN	c.5594G>A	p.R1865H	non-syn	rs33910054	0.1164	T=569/C=6159;T=82/C=3753;T=651/C=9912	lod=80:437	TOLERATED	B	-	hom	35
11	X	49061742	C	T	ENST00000376265	ENSG00000102001	49061523	49089833	ENSP00000365441	CACNA1F	-1	CAC1F_HUMAN	c.5789G>A	p.R1930H	non-syn	rs33910054	0.1164	T=569/C=6159;T=82/C=3753;T=651/C=9912	lod=80:437	TOLERATED	B	-	het	61
12	X	49061742	C	T	ENST00000376265	ENSG00000102001	49061523	49089833	ENSP00000365441	CACNA1F	-1	CAC1F_HUMAN	c.5789G>A	p.R1930H	non-syn	rs33910054	0.1164	T=569/C=6159;T=82/C=3753;T=651/C=9912	lod=80:437	TOLERATED	B	-	hom	35
13	X	49061795	A	G	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5703T>C	p.A1901A	syn	NA	-	-	lod=132:491	-	-	-	het	1
14	X	49061795	A	G	ENST00000376251	ENSG00000102001	49061523	49089833	ENSP00000365427	CACNA1F	-1	CAC1F_HUMAN	c.5541T>C	p.A1847A	syn	NA	-	-	lod=132:491	-	-	-	het	1
15	X	49061795	A	G	ENST00000376265	ENSG00000102001	49061523	49089833	ENSP00000365441	CACNA1F	-1	CAC1F_HUMAN	c.5736T>C	p.A1912A	syn	NA	-	-	lod=132:491	-	-	-	het	1
16	X	49062170	C	T	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5576G>A	p.G1859D	non-syn	NA	-	-	-	TOLERATED	D	-	hom	1
17	X	49062170	C	T	ENST00000376251	ENSG00000102001	49061523	49089833	ENSP00000365427	CACNA1F	-1	CAC1F_HUMAN	c.5414G>A	p.G1805D	non-syn	NA	-	-	-	TOLERATED	D	-	hom	1
18	X	49062170	C	T	ENST00000376265	ENSG00000102001	49061523	49089833	ENSP00000365441	CACNA1F	-1	CAC1F_HUMAN	c.5609G>A	p.G1870D	non-syn	NA	-	-	-	TOLERATED	D	-	hom	1
19	X	49063300	C	T	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5248G>A	p.E1750K	non-syn	NA	-	-	lod=14:251	DAMAGING	P	-	het	1
20	X	49063300	C	T	ENST00000323022	ENSG00000102001	49061523	49089833	ENSP00000321618	CACNA1F	-1	CAC1F_HUMAN	c.5248G>A	p.E1750K	non-syn	NA	-	-	lod=14:251	DAMAGING	P	-	hom	1

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Transcripts and variants in the surrounding CACNA1F X:49061523..49089833 region Gbrowse