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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 CYP4V2:

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
ENSG00000145476	CYP4V2	0	0	43	ENSG00000145476	ENST00000378802	ENSP00000368079	cytochrome P450, family 4, subfamily V, polypeptide 2 [Source:HGNC Symbol;Acc:23198]	4	187112674	187134610	1	q35.2	187112674	187131955	CYP4V2	CYP4V2-001	HGNC Symbol	HGNC transcript name	4	42.12	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	285440	23198	CYP4V2	NM_207352	27524

MSeqDR Master Exome Data Set M1: 141 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	4	187112682	A	C	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	rs7662717	0.9174	-	-	-	-	-	het	22
2	4	187112682	A	C	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	rs7662717	0.9174	-	-	-	-	-	hom	98
3	4	187112826	A	G	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	rs2241819	0.3519	-	-	-	-	-	hom	84
4	4	187112826	A	G	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	rs2241819	0.3519	-	-	-	-	-	het	113
5	4	187112832	C	T	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	rs1398007	0.5289	-	-	-	-	-	het	192
6	4	187112832	C	T	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	rs1398007	0.5289	-	-	-	-	-	hom	99
7	4	187112883	G	A	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	4	187112885	G	A	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	4	187113041	C	G	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	c.64C>G	p.L22V	non-syn	rs1055138	0.5017	G=4174/C=4354;G=1786/C=2542;G=5960/C=6896	-	TOLERATED	B	HGMD	het	370
10	4	187113041	C	G	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	c.64C>G	p.L22V	non-syn	rs1055138	0.5017	G=4174/C=4354;G=1786/C=2542;G=5960/C=6896	-	TOLERATED	B	HGMD	hom	169
11	4	187113076	G	A	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	c.99G>A	p.L33L	syn	rs145611966	-	A=22/G=8548;A=3/G=4355;A=25/G=12903	lod=23:304	-	-	-	het	6
12	4	187113124	C	G	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	c.147C>G	p.P49P	syn	NA	-	-	lod=30:333	-	-	-	het	4
13	4	187115777	G	C	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	+11bp 5'_splice_site	rs62350517	0.06865	C=683/G=7917;C=65/G=4341;C=748/G=12258	-	-	-	-	het	126
14	4	187115777	G	C	ENST00000378802	ENSG00000145476	187112674	187134610	ENSP00000368079	CYP4V2	1	CP4V2_HUMAN	-	-	+11bp 5'_splice_site	rs62350517	0.06865	C=683/G=7917;C=65/G=4341;C=748/G=12258	-	-	-	-	hom	6
15	4	187117467	G	A	ENST00000507209	ENSG00000145476	187112674	187134610	-	CYP4V2	1	-	c.226G>A	p.D76N	non-syn	rs145359522	0.009	-	-	-	-	-	het	1
16	4	187118001	A	G	ENST00000507209	ENSG00000145476	187112674	187134610	-	CYP4V2	1	-	c.760A>G	p.I254V	non-syn	rs72646257	0.0099	-	-	-	-	-	het	6
17	4	187118001	A	G	ENST00000507209	ENSG00000145476	187112674	187134610	-	CYP4V2	1	-	c.760A>G	p.I254V	non-syn	rs72646257	0.0099	-	-	-	-	-	hom	1
18	4	187118040	T	-TC	ENST00000507209	ENSG00000145476	187112674	187134610	-	CYP4V2	1	-	c.800_801del	p.F267NA	non-syn	rs112367913	-	-	-	-	-	-	het	273
19	4	187118040	T	-TC	ENST00000507209	ENSG00000145476	187112674	187134610	-	CYP4V2	1	-	c.800_801del	p.F267NA	non-syn	rs112367913	-	-	-	-	-	-	hom	75
20	4	187118040	T	-TCTC	ENST00000507209	ENSG00000145476	187112674	187134610	-	CYP4V2	1	-	c.800_803del	p.F267NA	non-syn	NA	-	-	-	-	-	-	het	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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Transcripts and variants in the surrounding CYP4V2 4:187112674..187134610 region Gbrowse