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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 CYP27A1:

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
ENSG00000135929	CYP27A1	1	0	66	ENSG00000135929	ENST00000494263		cytochrome P450, family 27, subfamily A, polypeptide 1 [Source:HGNC Symbol;Acc:2605]	2	219646472	219680016	1	q35	219646472	219680011	CYP27A1	CYP27A1-002	HGNC Symbol	HGNC transcript name	5	43.71	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	1593	2605	CYP27A1		27508

MSeqDR Master Exome Data Set M1: 111 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	2	219646524	G	T	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	2	219646524	G	T	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.53G>T	p.R18L	non-syn	NA	-	-	-	-	-	-	het	2
3	2	219646547	A	+C	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	rs11375701	-	-	-	-	-	-	hom	567
4	2	219646547	A	+C	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	rs11375701	-	-	-	-	-	-	het	80
5	2	219646547	A	+C	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.76_77insC	p.T26NA	non-syn	rs11375701	-	-	-	-	-	-	hom	567
6	2	219646547	A	+C	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.76_77insC	p.T26NA	non-syn	rs11375701	-	-	-	-	-	-	het	80
7	2	219646669	G	A	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	2	219646669	G	A	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.198G>A	p.G66G	syn	NA	-	-	-	-	-	-	het	1
9	2	219646701	C	A	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	rs187723732	0.0114	-	-	-	-	-	het	1
10	2	219646701	C	A	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.230C>A	p.A77E	non-syn	rs187723732	0.0114	-	-	-	-	-	het	1
11	2	219646730	C	-CT	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	7
12	2	219646730	C	-CT	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.260_261del	p.P87NA	non-syn	NA	-	-	-	-	-	-	het	7
13	2	219646874	G	T	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	2	219646874	G	T	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.403G>T	p.D135Y	non-syn	NA	-	-	-	-	-	-	het	1
15	2	219646900	C	T	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	5'_UTR	rs199891090	0.0155	T=2/C=5522;T=42/C=2644;T=44/C=8166	-	-	-	-	het	1
16	2	219646900	C	T	ENST00000445971	ENSG00000135929	219646472	219680016	ENSP00000404945	CYP27A1	1	-	-	-	5'_UTR	rs199891090	0.0155	T=2/C=5522;T=42/C=2644;T=44/C=8166	-	-	-	-	het	1
17	2	219646900	C	T	ENST00000466602	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.4C>T	p.Q2*	non-syn	rs199891090	0.0155	T=2/C=5522;T=42/C=2644;T=44/C=8166	-	-	-	-	het	1
18	2	219646900	C	T	ENST00000494263	ENSG00000135929	219646472	219680016	-	CYP27A1	1	-	c.429C>T	p.H143H	syn	rs199891090	0.0155	T=2/C=5522;T=42/C=2644;T=44/C=8166	-	-	-	-	het	1
19	2	219647176	A	G	ENST00000258415	ENSG00000135929	219646472	219680016	ENSP00000258415	CYP27A1	1	CP27A_HUMAN	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
20	2	219647176	A	G	ENST00000445971	ENSG00000135929	219646472	219680016	ENSP00000404945	CYP27A1	1	-	-	-	+16bp 5'_splice_site	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CYP27A1 2:219646472..219680016 region Gbrowse