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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 HAVCR1:

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
ENSG00000113249	HAVCR1	0	0	0	ENSG00000113249	ENST00000522693	ENSP00000428524	hepatitis A virus cellular receptor 1 [Source:HGNC Symbol;Acc:17866]	5	156456424	156486130	-1	q33.3	156456424	156486130	HAVCR1	HAVCR1-002	HGNC Symbol	HGNC transcript name	7	42.99	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	26762	17866	HAVCR1		27527

MSeqDR Master Exome Data Set M1: 512 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	5	156456709	C	T	ENST00000339252	ENSG00000113249	156456424	156486130	ENSP00000344844	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs145237072	0.0284	T=0/C=8248;T=176/C=3620;T=176/C=11868	-	DAMAGING	-	-	het	2
2	5	156456709	C	T	ENST00000425854	ENSG00000113249	156456424	156486130	ENSP00000403333	HAVCR1	-1	-	c.1096G>A	p.E366K	non-syn	rs145237072	0.0284	T=0/C=8248;T=176/C=3620;T=176/C=11868	-	DAMAGING	-	-	het	2
3	5	156456709	C	T	ENST00000522693	ENSG00000113249	156456424	156486130	ENSP00000428524	HAVCR1	-1	-	c.1096G>A	p.E366K	non-syn	rs145237072	0.0284	T=0/C=8248;T=176/C=3620;T=176/C=11868	-	DAMAGING	-	-	het	2
4	5	156456709	C	T	ENST00000523175	ENSG00000113249	156456424	156486130	ENSP00000427898	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs145237072	0.0284	T=0/C=8248;T=176/C=3620;T=176/C=11868	-	DAMAGING	-	-	het	2
5	5	156456709	C	T	ENST00000544197	ENSG00000113249	156456424	156486130	ENSP00000440258	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs145237072	0.0284	T=0/C=8248;T=176/C=3620;T=176/C=11868	-	DAMAGING	-	-	het	2
6	5	156456715	C	T	ENST00000339252	ENSG00000113249	156456424	156486130	ENSP00000344844	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	het	37
7	5	156456715	C	T	ENST00000339252	ENSG00000113249	156456424	156486130	ENSP00000344844	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	hom	2
8	5	156456715	C	T	ENST00000425854	ENSG00000113249	156456424	156486130	ENSP00000403333	HAVCR1	-1	-	c.1090G>A	p.A364T	non-syn	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	het	37
9	5	156456715	C	T	ENST00000425854	ENSG00000113249	156456424	156486130	ENSP00000403333	HAVCR1	-1	-	c.1090G>A	p.A364T	non-syn	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	hom	2
10	5	156456715	C	T	ENST00000522693	ENSG00000113249	156456424	156486130	ENSP00000428524	HAVCR1	-1	-	c.1090G>A	p.A364T	non-syn	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	het	37
11	5	156456715	C	T	ENST00000522693	ENSG00000113249	156456424	156486130	ENSP00000428524	HAVCR1	-1	-	c.1090G>A	p.A364T	non-syn	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	hom	2
12	5	156456715	C	T	ENST00000523175	ENSG00000113249	156456424	156486130	ENSP00000427898	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	het	37
13	5	156456715	C	T	ENST00000523175	ENSG00000113249	156456424	156486130	ENSP00000427898	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	hom	2
14	5	156456715	C	T	ENST00000544197	ENSG00000113249	156456424	156486130	ENSP00000440258	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	het	37
15	5	156456715	C	T	ENST00000544197	ENSG00000113249	156456424	156486130	ENSP00000440258	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs137884244	0.0043	T=39/C=8201;T=0/C=3796;T=39/C=11997	-	DAMAGING	-	-	hom	2
16	5	156456731	G	T	ENST00000339252	ENSG00000113249	156456424	156486130	ENSP00000344844	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs111759551	0.0243	T=3/G=8231;T=111/G=3655;T=114/G=11886	-	-	-	-	het	5
17	5	156456731	G	T	ENST00000339252	ENSG00000113249	156456424	156486130	ENSP00000344844	HAVCR1	-1	HAVR1_HUMAN	-	-	3'_UTR	rs111759551	0.0243	T=3/G=8231;T=111/G=3655;T=114/G=11886	-	-	-	-	hom	1
18	5	156456731	G	T	ENST00000425854	ENSG00000113249	156456424	156486130	ENSP00000403333	HAVCR1	-1	-	c.1074C>A	p.C358*	non-syn	rs111759551	0.0243	T=3/G=8231;T=111/G=3655;T=114/G=11886	-	-	-	-	het	5
19	5	156456731	G	T	ENST00000425854	ENSG00000113249	156456424	156486130	ENSP00000403333	HAVCR1	-1	-	c.1074C>A	p.C358*	non-syn	rs111759551	0.0243	T=3/G=8231;T=111/G=3655;T=114/G=11886	-	-	-	-	hom	1
20	5	156456731	G	T	ENST00000522693	ENSG00000113249	156456424	156486130	ENSP00000428524	HAVCR1	-1	-	c.1074C>A	p.C358*	non-syn	rs111759551	0.0243	T=3/G=8231;T=111/G=3655;T=114/G=11886	-	-	-	-	het	5

** 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 HAVCR1 5:156456424..156486130 region Gbrowse