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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 HTRA2:

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
ENSG00000115317	HTRA2	1	7	3	ENSG00000115317	ENST00000258080	ENSP00000258080	HtrA serine peptidase 2 [Source:HGNC Symbol;Acc:14348]	2	74756504	74760472	1	p13.1	74756504	74760472	HTRA2	HTRA2-001	HGNC Symbol	HGNC transcript name	10	54.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	27429	14348	HTRA2	NM_013247	27508

MSeqDR Master Exome Data Set M1: 105 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	74756514	C	T	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	rs115467431	0.016	T=2/C=8462;T=189/C=4033;T=191/C=12495	lod=238:554	TOLERATED	P	-	het	2
2	2	74756514	C	T	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	rs115467431	0.016	T=2/C=8462;T=189/C=4033;T=191/C=12495	lod=238:554	TOLERATED	P	-	hom	1
3	2	74756548	G	C	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	rs1183739	0.1582	C=1206/G=7292;C=117/G=4199;C=1323/G=11491	lod=238:554	DAMAGING	-	-	het	166
4	2	74756548	G	C	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	rs1183739	0.1582	C=1206/G=7292;C=117/G=4199;C=1323/G=11491	lod=238:554	DAMAGING	-	-	hom	14
5	2	74756594	A	G	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	NA	-	-	lod=332:590	DAMAGING	D	-	het	1
6	2	74756621	G	A	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	NA	-	-	lod=332:590	DAMAGING	D	-	het	1
7	2	74756713	G	C	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	NA	-	-	lod=155:508	DAMAGING	D	-	het	1
8	2	74756773	G	A	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
9	2	74756805	C	T	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	NA	-	-	lod=147:503	DAMAGING	-	-	het	1
10	2	74756988	G	A	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	2	74756988	G	A	ENST00000462909	ENSG00000115317	74756504	74760472	-	HTRA2	1	-	c.137G>A	p.G46E	non-syn	NA	-	-	-	-	-	-	het	1
12	2	74756988	G	A	ENST00000467961	ENSG00000115317	74756504	74760472	-	HTRA2	1	-	c.87G>A	p.R29R	syn	NA	-	-	-	-	-	-	het	1
13	2	74756988	G	A	ENST00000484881	ENSG00000115317	74756504	74760472	-	HTRA2	1	-	c.40G>A	p.E14K	non-syn	NA	-	-	-	-	-	-	het	1
14	2	74757348	T	C	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	c.215T>C	p.L72P	non-syn	rs150047108	-	C=26/T=8546;C=2/T=4380;C=28/T=12926	-	DAMAGING	D	-	het	4
15	2	74757348	T	C	ENST00000352222	ENSG00000115317	74756504	74760472	ENSP00000312893	HTRA2	1	HTRA2_HUMAN	c.215T>C	p.L72P	non-syn	rs150047108	-	C=26/T=8546;C=2/T=4380;C=28/T=12926	-	DAMAGING	D	-	het	4
16	2	74757348	T	C	ENST00000437202	ENSG00000115317	74756504	74760472	ENSP00000399166	HTRA2	1	HTRA2_HUMAN	c.176T>C	p.L59P	non-syn	rs150047108	-	C=26/T=8546;C=2/T=4380;C=28/T=12926	-	DAMAGING	D	-	het	4
17	2	74757348	T	C	ENST00000484352	ENSG00000115317	74756504	74760472	-	HTRA2	1	-	c.53T>C	p.L18P	non-syn	rs150047108	-	C=26/T=8546;C=2/T=4380;C=28/T=12926	-	DAMAGING	D	-	het	4
18	2	74757460	G	A	ENST00000258080	ENSG00000115317	74756504	74760472	ENSP00000258080	HTRA2	1	HTRA2_HUMAN	c.327G>A	p.V109V	syn	NA	-	-	lod=97:458	-	-	-	het	1
19	2	74757460	G	A	ENST00000352222	ENSG00000115317	74756504	74760472	ENSP00000312893	HTRA2	1	HTRA2_HUMAN	c.327G>A	p.V109V	syn	NA	-	-	lod=97:458	-	-	-	het	1
20	2	74757460	G	A	ENST00000437202	ENSG00000115317	74756504	74760472	ENSP00000399166	HTRA2	1	HTRA2_HUMAN	c.288G>A	p.V96V	syn	NA	-	-	lod=97:458	-	-	-	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 HTRA2 2:74756504..74760472 region Gbrowse