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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 HSD3B7:

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
ENSG00000099377	HSD3B7	0	0	9	ENSG00000099377	ENST00000262520	ENSP00000262520	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [Source:HGNC Symbol;Acc:18324]	16	30996519	31000473	1	p11.2	30996528	31000467	HSD3B7	HSD3B7-002	HGNC Symbol	HGNC transcript name	5	60.68	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	80270	18324	HSD3B7	NM_001142777	27514

MSeqDR Master Exome Data Set M1: 126 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	16	30996795	C	T	ENST00000262520	ENSG00000099377	30996519	31000473	ENSP00000262520	HSD3B7	1	3BHS7_HUMAN	-	-	5'_UTR	rs79974799	0.0858	-	-	-	-	-	het	16
2	16	30996872	G	C	ENST00000262520	ENSG00000099377	30996519	31000473	ENSP00000262520	HSD3B7	1	3BHS7_HUMAN	-	-	5'_UTR	rs12443627	0.6627	-	-	-	-	-	het	3
3	16	30996872	G	C	ENST00000262520	ENSG00000099377	30996519	31000473	ENSP00000262520	HSD3B7	1	3BHS7_HUMAN	-	-	5'_UTR	rs12443627	0.6627	-	-	-	-	-	hom	2
4	16	30996872	G	C	ENST00000574447	ENSG00000099377	30996519	31000473	ENSP00000459689	HSD3B7	1	-	-	-	5'_UTR	rs12443627	0.6627	-	-	-	-	-	het	3
5	16	30996872	G	C	ENST00000574447	ENSG00000099377	30996519	31000473	ENSP00000459689	HSD3B7	1	-	-	-	5'_UTR	rs12443627	0.6627	-	-	-	-	-	hom	2
6	16	30997050	A	G	ENST00000262520	ENSG00000099377	30996519	31000473	ENSP00000262520	HSD3B7	1	3BHS7_HUMAN	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	hom	1
7	16	30997050	A	G	ENST00000262520	ENSG00000099377	30996519	31000473	ENSP00000262520	HSD3B7	1	3BHS7_HUMAN	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	het	3
8	16	30997050	A	G	ENST00000297679	ENSG00000099377	30996519	31000473	ENSP00000297679	HSD3B7	1	3BHS7_HUMAN	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	hom	1
9	16	30997050	A	G	ENST00000297679	ENSG00000099377	30996519	31000473	ENSP00000297679	HSD3B7	1	3BHS7_HUMAN	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	het	3
10	16	30997050	A	G	ENST00000353250	ENSG00000099377	30996519	31000473	ENSP00000370662	HSD3B7	1	3BHS7_HUMAN	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	hom	1
11	16	30997050	A	G	ENST00000353250	ENSG00000099377	30996519	31000473	ENSP00000370662	HSD3B7	1	3BHS7_HUMAN	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	het	3
12	16	30997050	A	G	ENST00000562932	ENSG00000099377	30996519	31000473	ENSP00000459852	HSD3B7	1	-	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	hom	1
13	16	30997050	A	G	ENST00000562932	ENSG00000099377	30996519	31000473	ENSP00000459852	HSD3B7	1	-	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	het	3
14	16	30997050	A	G	ENST00000574447	ENSG00000099377	30996519	31000473	ENSP00000459689	HSD3B7	1	-	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	hom	1
15	16	30997050	A	G	ENST00000574447	ENSG00000099377	30996519	31000473	ENSP00000459689	HSD3B7	1	-	c.71A>G	p.H24R	non-syn	rs201796375	-	G=1/A=8599;G=0/A=4394;G=1/A=12993	lod=97:458	DAMAGING	D	-	het	3
16	16	30997363	C	T	ENST00000262520	ENSG00000099377	30996519	31000473	ENSP00000262520	HSD3B7	1	3BHS7_HUMAN	-	-	-7bp 3'_splice_site	rs143498420	0.0208	T=1/C=8597;T=101/C=4293;T=102/C=12890	-	-	-	-	het	2
17	16	30997363	C	T	ENST00000297679	ENSG00000099377	30996519	31000473	ENSP00000297679	HSD3B7	1	3BHS7_HUMAN	-	-	-7bp 3'_splice_site	rs143498420	0.0208	T=1/C=8597;T=101/C=4293;T=102/C=12890	-	-	-	-	het	2
18	16	30997363	C	T	ENST00000353250	ENSG00000099377	30996519	31000473	ENSP00000370662	HSD3B7	1	3BHS7_HUMAN	-	-	-7bp 3'_splice_site	rs143498420	0.0208	T=1/C=8597;T=101/C=4293;T=102/C=12890	-	-	-	-	het	2
19	16	30997363	C	T	ENST00000562932	ENSG00000099377	30996519	31000473	ENSP00000459852	HSD3B7	1	-	-	-	-7bp 3'_splice_site	rs143498420	0.0208	T=1/C=8597;T=101/C=4293;T=102/C=12890	-	-	-	-	het	2
20	16	30997363	C	T	ENST00000574447	ENSG00000099377	30996519	31000473	ENSP00000459689	HSD3B7	1	-	-	-	-7bp 3'_splice_site	rs143498420	0.0208	T=1/C=8597;T=101/C=4293;T=102/C=12890	-	-	-	-	het	2

** 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 HSD3B7 16:30996519..31000473 region Gbrowse