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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 BEAN1:

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
ENSG00000166546	BEAN1	0	0	0	ENSG00000166546	ENST00000536005	ENSP00000442793	brain expressed, associated with NEDD4, 1 [Source:HGNC Symbol;Acc:24160]	16	66461200	66527432	1	q21	66461200	66515819	BEAN1	BEAN1-002	HGNC Symbol	HGNC transcript name	9	50.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	146227	24160	BEAN1	NM_001178020	27514

MSeqDR Master Exome Data Set M1: 97 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	16	66471679	C	T	ENST00000569272	ENSG00000166546	66461200	66527432	-	BEAN1	1	-	c.936C>T	p.N312N	syn	NA	-	-	-	-	-	-	het	1
2	16	66503530	C	T	ENST00000299694	ENSG00000166546	66461200	66527432	ENSP00000299694	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	NA	-	-	lod=29:329	-	-	-	het	1
3	16	66503530	C	T	ENST00000536005	ENSG00000166546	66461200	66527432	ENSP00000442793	BEAN1	1	BEAN1_HUMAN	c.51C>T	p.Y17Y	syn	NA	-	-	lod=29:329	-	-	-	het	1
4	16	66503530	C	T	ENST00000561796	ENSG00000166546	66461200	66527432	ENSP00000455212	BEAN1	1	-	-	-	5'_UTR	NA	-	-	lod=29:329	-	-	-	het	1
5	16	66503530	C	T	ENST00000562849	ENSG00000166546	66461200	66527432	ENSP00000456822	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	NA	-	-	lod=29:329	-	-	-	het	1
6	16	66503569	T	G	ENST00000299694	ENSG00000166546	66461200	66527432	ENSP00000299694	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	NA	-	-	lod=79:436	TOLERATED	-	-	het	2
7	16	66503569	T	G	ENST00000536005	ENSG00000166546	66461200	66527432	ENSP00000442793	BEAN1	1	BEAN1_HUMAN	c.90T>G	p.H30Q	non-syn	NA	-	-	lod=79:436	TOLERATED	-	-	het	2
8	16	66503569	T	G	ENST00000561796	ENSG00000166546	66461200	66527432	ENSP00000455212	BEAN1	1	-	-	-	5'_UTR	NA	-	-	lod=79:436	TOLERATED	-	-	het	2
9	16	66503569	T	G	ENST00000562849	ENSG00000166546	66461200	66527432	ENSP00000456822	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	NA	-	-	lod=79:436	TOLERATED	-	-	het	2
10	16	66503684	C	T	ENST00000299694	ENSG00000166546	66461200	66527432	ENSP00000299694	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	rs184299677	0.0089	-	lod=254:561	DAMAGING	-	-	het	1
11	16	66503684	C	T	ENST00000536005	ENSG00000166546	66461200	66527432	ENSP00000442793	BEAN1	1	BEAN1_HUMAN	c.205C>T	p.R69W	non-syn	rs184299677	0.0089	-	lod=254:561	DAMAGING	-	-	het	1
12	16	66503684	C	T	ENST00000561796	ENSG00000166546	66461200	66527432	ENSP00000455212	BEAN1	1	-	-	-	5'_UTR	rs184299677	0.0089	-	lod=254:561	DAMAGING	-	-	het	1
13	16	66503684	C	T	ENST00000562849	ENSG00000166546	66461200	66527432	ENSP00000456822	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	rs184299677	0.0089	-	lod=254:561	DAMAGING	-	-	het	1
14	16	66503684	C	T	ENST00000563075	ENSG00000166546	66461200	66527432	-	BEAN1	1	-	c.68C>T	p.A23V	non-syn	rs184299677	0.0089	-	lod=254:561	DAMAGING	-	-	het	1
15	16	66503684	C	T	ENST00000564819	ENSG00000166546	66461200	66527432	ENSP00000456430	BEAN1	1	-	-	-	5'_UTR	rs184299677	0.0089	-	lod=254:561	DAMAGING	-	-	het	1
16	16	66503705	C	A	ENST00000299694	ENSG00000166546	66461200	66527432	ENSP00000299694	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	rs200706119	0.0091	-	-	DAMAGING	-	-	het	14
17	16	66503705	C	A	ENST00000536005	ENSG00000166546	66461200	66527432	ENSP00000442793	BEAN1	1	BEAN1_HUMAN	c.226C>A	p.R76S	non-syn	rs200706119	0.0091	-	-	DAMAGING	-	-	het	14
18	16	66503705	C	A	ENST00000561796	ENSG00000166546	66461200	66527432	ENSP00000455212	BEAN1	1	-	-	-	5'_UTR	rs200706119	0.0091	-	-	DAMAGING	-	-	het	14
19	16	66503705	C	A	ENST00000562849	ENSG00000166546	66461200	66527432	ENSP00000456822	BEAN1	1	BEAN1_HUMAN	-	-	5'_UTR	rs200706119	0.0091	-	-	DAMAGING	-	-	het	14
20	16	66503705	C	A	ENST00000563075	ENSG00000166546	66461200	66527432	-	BEAN1	1	-	c.89C>A	p.P30Q	non-syn	rs200706119	0.0091	-	-	DAMAGING	-	-	het	14

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding BEAN1 16:66461200..66527432 region Gbrowse