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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 BUB1B:

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
ENSG00000156970	BUB1B	0	0	25	ENSG00000156970	ENST00000560120		BUB1 mitotic checkpoint serine/threonine kinase B [Source:HGNC Symbol;Acc:1149]	15	40453224	40513337	1	q15.1	40453224	40468822	BUB1B	BUB1B-004	HGNC Symbol	HGNC transcript name	11	38.74	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	701	1149	BUB1B		27521

MSeqDR Master Exome Data Set M1: 174 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	15	40453307	A	G	ENST00000287598	ENSG00000156970	40453224	40513337	ENSP00000287598	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	rs2277559	0.6663	-	-	-	-	-	het	328
2	15	40453307	A	G	ENST00000287598	ENSG00000156970	40453224	40513337	ENSP00000287598	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	rs2277559	0.6663	-	-	-	-	-	hom	338
3	15	40453307	A	G	ENST00000412359	ENSG00000156970	40453224	40513337	ENSP00000398470	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	rs2277559	0.6663	-	-	-	-	-	het	328
4	15	40453307	A	G	ENST00000412359	ENSG00000156970	40453224	40513337	ENSP00000398470	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	rs2277559	0.6663	-	-	-	-	-	hom	338
5	15	40453307	A	G	ENST00000558715	ENSG00000156970	40453224	40513337	ENSP00000453861	BUB1B	1	-	-	-	5'_UTR	rs2277559	0.6663	-	-	-	-	-	het	328
6	15	40453307	A	G	ENST00000558715	ENSG00000156970	40453224	40513337	ENSP00000453861	BUB1B	1	-	-	-	5'_UTR	rs2277559	0.6663	-	-	-	-	-	hom	338
7	15	40453307	A	G	ENST00000559414	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.64A>G	p.T22A	non-syn	rs2277559	0.6663	-	-	-	-	-	het	328
8	15	40453307	A	G	ENST00000559414	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.64A>G	p.T22A	non-syn	rs2277559	0.6663	-	-	-	-	-	hom	338
9	15	40453307	A	G	ENST00000560120	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.84A>G	p.V28V	syn	rs2277559	0.6663	-	-	-	-	-	het	328
10	15	40453307	A	G	ENST00000560120	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.84A>G	p.V28V	syn	rs2277559	0.6663	-	-	-	-	-	hom	338
11	15	40453363	G	A	ENST00000287598	ENSG00000156970	40453224	40513337	ENSP00000287598	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	15	40453363	G	A	ENST00000412359	ENSG00000156970	40453224	40513337	ENSP00000398470	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
13	15	40453363	G	A	ENST00000558715	ENSG00000156970	40453224	40513337	ENSP00000453861	BUB1B	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	15	40453363	G	A	ENST00000559414	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.120G>A	p.A40A	syn	NA	-	-	-	-	-	-	het	1
15	15	40453363	G	A	ENST00000560120	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.140G>A	p.R47Q	non-syn	NA	-	-	-	-	-	-	het	1
16	15	40453380	A	G	ENST00000287598	ENSG00000156970	40453224	40513337	ENSP00000287598	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	rs183777343	0.0102	G=111/A=8483;G=12/A=4388;G=123/A=12871	-	-	-	-	het	12
17	15	40453380	A	G	ENST00000412359	ENSG00000156970	40453224	40513337	ENSP00000398470	BUB1B	1	BUB1B_HUMAN	-	-	5'_UTR	rs183777343	0.0102	G=111/A=8483;G=12/A=4388;G=123/A=12871	-	-	-	-	het	12
18	15	40453380	A	G	ENST00000558715	ENSG00000156970	40453224	40513337	ENSP00000453861	BUB1B	1	-	-	-	5'_UTR	rs183777343	0.0102	G=111/A=8483;G=12/A=4388;G=123/A=12871	-	-	-	-	het	12
19	15	40453380	A	G	ENST00000559414	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.137A>G	p.E46G	non-syn	rs183777343	0.0102	G=111/A=8483;G=12/A=4388;G=123/A=12871	-	-	-	-	het	12
20	15	40453380	A	G	ENST00000560120	ENSG00000156970	40453224	40513337	-	BUB1B	1	-	c.157A>G	p.K53E	non-syn	rs183777343	0.0102	G=111/A=8483;G=12/A=4388;G=123/A=12871	-	-	-	-	het	12

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding BUB1B 15:40453224..40513337 region Gbrowse