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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 BTD:

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
ENSG00000169814	BTD	1	0	176	ENSG00000169814	ENST00000427382	ENSP00000397113	biotinidase [Source:HGNC Symbol;Acc:1122]	3	15642848	15687329	1	p25.1	15642848	15677122	BTD	BTD-004	HGNC Symbol	HGNC transcript name	12	41.69	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	686	1122	BTD		27517

MSeqDR Master Exome Data Set M1: 215 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	3	15643004	C	A	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	c.93C>A	p.A31A	syn	NA	-	A=2/C=8598;A=0/C=4406;A=2/C=13004	-	-	-	-	het	2
2	3	15643004	C	A	ENST00000427382	ENSG00000169814	15642848	15687329	ENSP00000397113	BTD	1	-	-	-	5'_UTR	NA	-	A=2/C=8598;A=0/C=4406;A=2/C=13004	-	-	-	-	het	2
3	3	15643004	C	A	ENST00000494021	ENSG00000169814	15642848	15687329	-	BTD	1	-	c.128C>A	p.P43Q	non-syn	NA	-	A=2/C=8598;A=0/C=4406;A=2/C=13004	-	-	-	-	het	2
4	3	15643043	A	G	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	c.132A>G	p.K44K	syn	rs2019160	0.9376	-	-	-	-	-	het	79
5	3	15643043	A	G	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	c.132A>G	p.K44K	syn	rs2019160	0.9376	-	-	-	-	-	hom	806
6	3	15643043	A	G	ENST00000427382	ENSG00000169814	15642848	15687329	ENSP00000397113	BTD	1	-	-	-	5'_UTR	rs2019160	0.9376	-	-	-	-	-	het	79
7	3	15643043	A	G	ENST00000427382	ENSG00000169814	15642848	15687329	ENSP00000397113	BTD	1	-	-	-	5'_UTR	rs2019160	0.9376	-	-	-	-	-	hom	806
8	3	15643043	A	G	ENST00000494021	ENSG00000169814	15642848	15687329	-	BTD	1	-	c.167A>G	p.N56S	non-syn	rs2019160	0.9376	-	-	-	-	-	het	79
9	3	15643043	A	G	ENST00000494021	ENSG00000169814	15642848	15687329	-	BTD	1	-	c.167A>G	p.N56S	non-syn	rs2019160	0.9376	-	-	-	-	-	hom	806
10	3	15643114	G	C	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	3	15643114	G	C	ENST00000427382	ENSG00000169814	15642848	15687329	ENSP00000397113	BTD	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	3	15643114	G	C	ENST00000494021	ENSG00000169814	15642848	15687329	-	BTD	1	-	c.238G>C	p.E80Q	non-syn	NA	-	-	-	-	-	-	het	1
13	3	15643158	A	C	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	-	-	3'_UTR	rs115586700	0.0133	-	-	-	-	-	het	60
14	3	15643158	A	C	ENST00000427382	ENSG00000169814	15642848	15687329	ENSP00000397113	BTD	1	-	-	-	+4bp 5'_splice_site	rs115586700	0.0133	-	-	-	-	-	het	60
15	3	15643158	A	C	ENST00000449107	ENSG00000169814	15642848	15687329	ENSP00000388212	BTD	1	-	-	-	5'_UTR	rs115586700	0.0133	-	-	-	-	-	het	60
16	3	15643158	A	C	ENST00000494021	ENSG00000169814	15642848	15687329	-	BTD	1	-	c.282A>C	p.*94C	non-syn	rs115586700	0.0133	-	-	-	-	-	het	60
17	3	15643175	G	A	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	-	-	3'_UTR	rs2279841	0.2432	-	-	-	-	-	het	122
18	3	15643175	G	A	ENST00000417015	ENSG00000169814	15642848	15687329	ENSP00000403775	BTD	1	-	-	-	3'_UTR	rs2279841	0.2432	-	-	-	-	-	hom	10
19	3	15643175	G	A	ENST00000449107	ENSG00000169814	15642848	15687329	ENSP00000388212	BTD	1	-	-	-	5'_UTR	rs2279841	0.2432	-	-	-	-	-	het	122
20	3	15643175	G	A	ENST00000449107	ENSG00000169814	15642848	15687329	ENSP00000388212	BTD	1	-	-	-	5'_UTR	rs2279841	0.2432	-	-	-	-	-	hom	10

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Transcripts and variants in the surrounding BTD 3:15642848..15687329 region Gbrowse