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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 SIX5:

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
ENSG00000177045	SIX5	1	0	5	ENSG00000177045	ENST00000317578	ENSP00000316842	SIX homeobox 5 [Source:HGNC Symbol;Acc:10891]	19	46268043	46272484	-1	q13.32	46268043	46272484	SIX5	SIX5-001	HGNC Symbol	HGNC transcript name	3	67.67	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	147912	10891	SIX5	NM_175875	27526

MSeqDR Master Exome Data Set M1: 103 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	19	46268170	G	A	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	NA	-	-	lod=62:410	-	-	-	het	1
2	19	46268170	G	A	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	NA	-	-	lod=62:410	-	-	-	het	1
3	19	46268365	G	A	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	19	46268365	G	A	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	19	46268428	G	A	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	rs60009313	0.0578	-	-	-	-	-	het	3
6	19	46268428	G	A	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	rs60009313	0.0578	-	-	-	-	-	het	3
7	19	46268453	C	T	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	rs60934577	0.0486	-	-	-	-	-	het	3
8	19	46268453	C	T	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	rs60934577	0.0486	-	-	-	-	-	het	3
9	19	46268598	G	C	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
10	19	46268598	G	C	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
11	19	46268654	G	A	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	rs117997878	0.0184	-	-	-	-	-	het	11
12	19	46268654	G	A	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	rs117997878	0.0184	-	-	-	-	-	het	11
13	19	46268654	G	A	ENST00000560168	ENSG00000177045	46268043	46272484	ENSP00000453189	SIX5	-1	-	-	-	3'_UTR	rs117997878	0.0184	-	-	-	-	-	het	11
14	19	46268676	C	T	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	19	46268676	C	T	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	19	46268676	C	T	ENST00000560168	ENSG00000177045	46268043	46272484	ENSP00000453189	SIX5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	19	46268712	T	C	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	rs199784167	-	C=3/T=8597;C=0/T=4406;C=3/T=13003	-	-	-	-	het	1
18	19	46268712	T	C	ENST00000560160	ENSG00000177045	46268043	46272484	ENSP00000453239	SIX5	-1	-	-	-	3'_UTR	rs199784167	-	C=3/T=8597;C=0/T=4406;C=3/T=13003	-	-	-	-	het	1
19	19	46268712	T	C	ENST00000560168	ENSG00000177045	46268043	46272484	ENSP00000453189	SIX5	-1	-	-	-	3'_UTR	rs199784167	-	C=3/T=8597;C=0/T=4406;C=3/T=13003	-	-	-	-	het	1
20	19	46268714	C	T	ENST00000317578	ENSG00000177045	46268043	46272484	ENSP00000316842	SIX5	-1	SIX5_HUMAN	-	-	3'_UTR	rs7257515	0.0643	T=3/C=8597;T=406/C=4000;T=409/C=12597	-	-	-	-	het	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 SIX5 19:46268043..46272484 region Gbrowse