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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 CYP11B2:

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
ENSG00000179142	CYP11B2	1	0	1	ENSG00000179142	ENST00000323110	ENSP00000325822	cytochrome P450, family 11, subfamily B, polypeptide 2 [Source:HGNC Symbol;Acc:2592]	8	143991975	143999259	-1	q24.3	143991975	143999259	CYP11B2	CYP11B2-001	HGNC Symbol	HGNC transcript name	1	59.89	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1585	2592	CYP11B2	NM_000498	27523

MSeqDR Master Exome Data Set M1: 61 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	8	143992218	A	G	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs3802228	0.55627	-	-	-	-	-	het	327
2	8	143992218	A	G	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs3802228	0.55627	-	-	-	-	-	hom	222
3	8	143992396	G	T	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	8	143992571	T	-C	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	8	143992607	C	T	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs61763990	-	-	-	-	-	-	het	3
6	8	143992652	C	T	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs28390200	0.1647	-	-	-	-	-	het	122
7	8	143992652	C	T	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs28390200	0.1647	-	-	-	-	-	hom	2
8	8	143992661	C	T	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs28491316	0.45152	-	-	-	-	-	het	331
9	8	143992661	C	T	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs28491316	0.45152	-	-	-	-	-	hom	138
10	8	143992783	G	A	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs61757284	-	-	-	-	-	-	het	2
11	8	143992859	G	A	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs72499120	0.3333	-	-	-	-	-	het	49
12	8	143992859	G	A	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs72499120	0.3333	-	-	-	-	-	hom	8
13	8	143992864	C	A	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs3802230	0.55832	-	-	-	-	-	het	328
14	8	143992864	C	A	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs3802230	0.55832	-	-	-	-	-	hom	223
15	8	143993016	A	G	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	8	143993101	G	+GA	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	8	143993101	G	+GGA	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs142951814	-	-	-	-	-	-	hom	217
18	8	143993101	G	+GGA	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs142951814	-	-	-	-	-	-	het	358
19	8	143993157	A	G	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	rs9297975	1	-	-	-	-	-	hom	678
20	8	143993167	A	G	ENST00000323110	ENSG00000179142	143991975	143999259	ENSP00000325822	CYP11B2	-1	C11B2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding CYP11B2 8:143991975..143999259 region Gbrowse