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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 BBS4:

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
ENSG00000140463	BBS4	0	0	34	ENSG00000140463	ENST00000566829	ENSP00000455958	Bardet-Biedl syndrome 4 [Source:HGNC Symbol;Acc:969]	15	72978527	73030817	1	q24.1	72978731	73009192	BBS4	BBS4-011	HGNC Symbol	HGNC transcript name	20	40.75	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	585	969	BBS4		27521

MSeqDR Master Exome Data Set M1: 448 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	72978531	C	A	ENST00000268057	ENSG00000140463	72978527	73030817	ENSP00000268057	BBS4	1	BBS4_HUMAN	-	-	5'_UTR	rs11637927	0.0485	A=514/C=7914;A=43/C=4255;A=557/C=12169	-	-	-	-	het	79
2	15	72978531	C	A	ENST00000268057	ENSG00000140463	72978527	73030817	ENSP00000268057	BBS4	1	BBS4_HUMAN	-	-	5'_UTR	rs11637927	0.0485	A=514/C=7914;A=43/C=4255;A=557/C=12169	-	-	-	-	hom	3
3	15	72978531	C	A	ENST00000542334	ENSG00000140463	72978527	73030817	ENSP00000445964	BBS4	1	-	-	-	5'_UTR	rs11637927	0.0485	A=514/C=7914;A=43/C=4255;A=557/C=12169	-	-	-	-	het	79
4	15	72978531	C	A	ENST00000542334	ENSG00000140463	72978527	73030817	ENSP00000445964	BBS4	1	-	-	-	5'_UTR	rs11637927	0.0485	A=514/C=7914;A=43/C=4255;A=557/C=12169	-	-	-	-	hom	3
5	15	72978531	C	A	ENST00000566400	ENSG00000140463	72978527	73030817	ENSP00000456759	BBS4	1	-	-	-	5'_UTR	rs11637927	0.0485	A=514/C=7914;A=43/C=4255;A=557/C=12169	-	-	-	-	het	79
6	15	72978531	C	A	ENST00000566400	ENSG00000140463	72978527	73030817	ENSP00000456759	BBS4	1	-	-	-	5'_UTR	rs11637927	0.0485	A=514/C=7914;A=43/C=4255;A=557/C=12169	-	-	-	-	hom	3
7	15	72978552	C	T	ENST00000268057	ENSG00000140463	72978527	73030817	ENSP00000268057	BBS4	1	BBS4_HUMAN	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
8	15	72978552	C	T	ENST00000268057	ENSG00000140463	72978527	73030817	ENSP00000268057	BBS4	1	BBS4_HUMAN	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9
9	15	72978552	C	T	ENST00000539603	ENSG00000140463	72978527	73030817	ENSP00000442492	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
10	15	72978552	C	T	ENST00000539603	ENSG00000140463	72978527	73030817	ENSP00000442492	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9
11	15	72978552	C	T	ENST00000542334	ENSG00000140463	72978527	73030817	ENSP00000445964	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
12	15	72978552	C	T	ENST00000542334	ENSG00000140463	72978527	73030817	ENSP00000445964	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9
13	15	72978552	C	T	ENST00000561914	ENSG00000140463	72978527	73030817	ENSP00000457795	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
14	15	72978552	C	T	ENST00000561914	ENSG00000140463	72978527	73030817	ENSP00000457795	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9
15	15	72978552	C	T	ENST00000563600	ENSG00000140463	72978527	73030817	ENSP00000457753	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
16	15	72978552	C	T	ENST00000563600	ENSG00000140463	72978527	73030817	ENSP00000457753	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9
17	15	72978552	C	T	ENST00000565160	ENSG00000140463	72978527	73030817	ENSP00000455412	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
18	15	72978552	C	T	ENST00000565160	ENSG00000140463	72978527	73030817	ENSP00000455412	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9
19	15	72978552	C	T	ENST00000566400	ENSG00000140463	72978527	73030817	ENSP00000456759	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	het	142
20	15	72978552	C	T	ENST00000566400	ENSG00000140463	72978527	73030817	ENSP00000456759	BBS4	1	-	-	-	5'_UTR	rs56368716	0.1156	T=675/C=7857;T=64/C=4260;T=739/C=12117	-	-	-	-	hom	9

** 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 BBS4 15:72978527..73030817 region Gbrowse