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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 DBT:

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
ENSG00000137992	DBT	1	0	63	ENSG00000137992	ENST00000370132	ENSP00000359151	dihydrolipoamide branched chain transacylase E2 [Source:HGNC Symbol;Acc:2698]	1	100652475	100715390	-1	p21.2	100652475	100715390	DBT	DBT-001	HGNC Symbol	HGNC transcript name	2	39.15	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1629	2698	DBT	NM_001918	27511

MSeqDR Master Exome Data Set M1: 53 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	1	100659894	G	+T	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	1	100660423	C	T	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	1	100660479	A	G	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	rs191584096	-	-	-	-	-	-	het	2
4	1	100660746	A	-T	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	1	100660778	C	G	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	1	100660826	G	A	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	rs11166414	0.0512	-	-	-	-	-	het	76
7	1	100660826	G	A	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	rs11166414	0.0512	-	-	-	-	-	hom	3
8	1	100660893	C	A	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	1	100661089	G	A	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	lod=18:278	-	-	-	het	2
10	1	100661217	T	C	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	rs147781191	0.0243	-	-	-	-	-	het	2
11	1	100661571	A	G	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	1	100661619	G	+AGA	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	1	100661703	G	A	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
14	1	100661773	T	C	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	3'_UTR	NA	-	C=3/T=8597;C=0/T=4404;C=3/T=13001	lod=26:317	-	-	-	het	1
15	1	100661842	T	C	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	c.1418A>G	p.N473S	non-syn	rs75525811	-	C=26/T=8574;C=2/T=4404;C=28/T=12978	lod=348:595	TOLERATED	B	-	het	5
16	1	100661977	G	-CCTAGAAAT	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	c.1274_1282del	p.A428NA	non-syn	NA	-	-	lod=140:497	-	-	HGMD	hom	1
17	1	100661981	A	-GAAAT	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	-3bp 3'_splice_site	NA	-	-	lod=140:497	-	-	-	hom	1
18	1	100661981	A	-GAAATG	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	-3bp 3'_splice_site	NA	-	-	lod=140:497	-	-	-	hom	4
19	1	100661983	A	-AATG	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	-5bp 3'_splice_site	NA	-	-	lod=140:497	-	-	-	hom	10
20	1	100661984	A	-ATG	ENST00000370132	ENSG00000137992	100652475	100715390	ENSP00000359151	DBT	-1	ODB2_HUMAN	-	-	-6bp 3'_splice_site	NA	-	-	lod=140:497	-	-	-	hom	11

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Transcripts and variants in the surrounding DBT 1:100652475..100715390 region Gbrowse