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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 EFHC1:

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
ENSG00000096093	EFHC1	0	0	78	ENSG00000096093	ENST00000480623	ENSP00000434498	EF-hand domain (C-terminal) containing 1 [Source:HGNC Symbol;Acc:16406]	6	52285106	52387892	1	p12.2	52285106	52357298	EFHC1	EFHC1-002	HGNC Symbol	HGNC transcript name	6	40.96	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	114327	16406	EFHC1		27515

MSeqDR Master Exome Data Set M1: 175 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	6	52285164	A	C	ENST00000371068	ENSG00000096093	52285106	52387892	ENSP00000360107	EFHC1	1	EFHC1_HUMAN	-	-	5'_UTR	NA	-	C=1/A=8599;C=1/A=4405;C=2/A=13004	-	-	-	-	het	1
2	6	52285164	A	C	ENST00000480623	ENSG00000096093	52285106	52387892	ENSP00000434498	EFHC1	1	EFHC1_HUMAN	-	-	5'_UTR	NA	-	C=1/A=8599;C=1/A=4405;C=2/A=13004	-	-	-	-	het	1
3	6	52285164	A	C	ENST00000491749	ENSG00000096093	52285106	52387892	-	EFHC1	1	-	c.5A>C	p.E2A	non-syn	NA	-	C=1/A=8599;C=1/A=4405;C=2/A=13004	-	-	-	-	het	1
4	6	52285233	T	C	ENST00000371068	ENSG00000096093	52285106	52387892	ENSP00000360107	EFHC1	1	EFHC1_HUMAN	c.25T>C	p.L9L	syn	rs149315015	0.0127	C=0/T=8600;C=36/T=4370;C=36/T=12970	lod=72:426	-	-	-	het	3
5	6	52285233	T	C	ENST00000433625	ENSG00000096093	52285106	52387892	ENSP00000416492	EFHC1	1	-	-	-	5'_UTR	rs149315015	0.0127	C=0/T=8600;C=36/T=4370;C=36/T=12970	lod=72:426	-	-	-	het	3
6	6	52285233	T	C	ENST00000480623	ENSG00000096093	52285106	52387892	ENSP00000434498	EFHC1	1	EFHC1_HUMAN	c.25T>C	p.L9L	syn	rs149315015	0.0127	C=0/T=8600;C=36/T=4370;C=36/T=12970	lod=72:426	-	-	-	het	3
7	6	52285233	T	C	ENST00000491749	ENSG00000096093	52285106	52387892	-	EFHC1	1	-	c.74T>C	p.L25P	non-syn	rs149315015	0.0127	C=0/T=8600;C=36/T=4370;C=36/T=12970	lod=72:426	-	-	-	het	3
8	6	52288585	C	T	ENST00000538167	ENSG00000096093	52285106	52387892	ENSP00000444521	EFHC1	1	EFHC1_HUMAN	-	-	5'_UTR	rs192503387	0.0047	-	-	-	-	-	het	9
9	6	52288586	G	C	ENST00000538167	ENSG00000096093	52285106	52387892	ENSP00000444521	EFHC1	1	EFHC1_HUMAN	-	-	5'_UTR	rs62407871	0.1263	-	-	-	-	-	het	90
10	6	52288586	G	C	ENST00000538167	ENSG00000096093	52285106	52387892	ENSP00000444521	EFHC1	1	EFHC1_HUMAN	-	-	5'_UTR	rs62407871	0.1263	-	-	-	-	-	hom	4
11	6	52288739	T	C	ENST00000371068	ENSG00000096093	52285106	52387892	ENSP00000360107	EFHC1	1	EFHC1_HUMAN	-	-	-5bp 3'_splice_site	rs201860746	-	C=6/T=8594;C=0/T=4406;C=6/T=13000	lod=148:503	-	-	-	het	1
12	6	52288739	T	C	ENST00000433625	ENSG00000096093	52285106	52387892	ENSP00000416492	EFHC1	1	-	-	-	-5bp 3'_splice_site	rs201860746	-	C=6/T=8594;C=0/T=4406;C=6/T=13000	lod=148:503	-	-	-	het	1
13	6	52288739	T	C	ENST00000480623	ENSG00000096093	52285106	52387892	ENSP00000434498	EFHC1	1	EFHC1_HUMAN	-	-	-5bp 3'_splice_site	rs201860746	-	C=6/T=8594;C=0/T=4406;C=6/T=13000	lod=148:503	-	-	-	het	1
14	6	52288739	T	C	ENST00000491749	ENSG00000096093	52285106	52387892	-	EFHC1	1	-	-	-	-5bp 3'_splice_site	rs201860746	-	C=6/T=8594;C=0/T=4406;C=6/T=13000	lod=148:503	-	-	-	het	1
15	6	52288739	T	C	ENST00000538167	ENSG00000096093	52285106	52387892	ENSP00000444521	EFHC1	1	EFHC1_HUMAN	-	-	-5bp 3'_splice_site	rs201860746	-	C=6/T=8594;C=0/T=4406;C=6/T=13000	lod=148:503	-	-	-	het	1
16	6	52288770	G	A	ENST00000371068	ENSG00000096093	52285106	52387892	ENSP00000360107	EFHC1	1	EFHC1_HUMAN	c.90G>A	p.T30T	syn	rs140429638	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	4
17	6	52288770	G	A	ENST00000433625	ENSG00000096093	52285106	52387892	ENSP00000416492	EFHC1	1	-	-	-	5'_UTR	rs140429638	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	4
18	6	52288770	G	A	ENST00000480623	ENSG00000096093	52285106	52387892	ENSP00000434498	EFHC1	1	EFHC1_HUMAN	c.90G>A	p.T30T	syn	rs140429638	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	4
19	6	52288770	G	A	ENST00000491749	ENSG00000096093	52285106	52387892	-	EFHC1	1	-	c.139G>A	p.A47T	non-syn	rs140429638	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	4
20	6	52288770	G	A	ENST00000538167	ENSG00000096093	52285106	52387892	ENSP00000444521	EFHC1	1	EFHC1_HUMAN	c.33G>A	p.T11T	syn	rs140429638	-	A=5/G=8595;A=0/G=4406;A=5/G=13001	-	-	-	-	het	4

** 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 EFHC1 6:52285106..52387892 region Gbrowse