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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 CRX:

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
ENSG00000105392	CRX	1	3	49	ENSG00000105392	ENST00000566686	ENSP00000457808	cone-rod homeobox [Source:HGNC Symbol;Acc:2383]	19	48322703	48346587	1	q13.33	48322703	48339564	CRX	CRX-005	HGNC Symbol	HGNC transcript name	6	49.06	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1406	2383	CRX		27526

MSeqDR Master Exome Data Set M1: 175 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	48323821	C	-AG	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.22_23del	p.R8NA	non-syn	rs72059938	-	-	-	-	-	-	hom	8
2	19	48323821	C	-AG	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.22_23del	p.R8NA	non-syn	rs72059938	-	-	-	-	-	-	het	41
3	19	48323926	C	T	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.126C>T	p.D42D	syn	rs145962758	0.0098	-	-	-	-	-	het	3
4	19	48323989	G	A	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.189G>A	p.E63E	syn	NA	-	-	-	-	-	-	het	1
5	19	48324001	A	G	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.201A>G	p.K67K	syn	rs4802391	1	-	-	-	-	-	hom	126
6	19	48324273	A	G	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.473A>G	p.K158R	non-syn	rs59345518	0.7632	-	-	-	-	-	het	2
7	19	48324273	A	G	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.473A>G	p.K158R	non-syn	rs59345518	0.7632	-	-	-	-	-	hom	1
8	19	48324722	C	A	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.922C>A	p.P308T	non-syn	rs10410589	0.6254	-	-	-	-	-	het	1
9	19	48325187	T	C	ENST00000221996	ENSG00000105392	48322703	48346587	ENSP00000221996	CRX	1	CRX_HUMAN	-	-	5'_UTR	rs10418215	0.2251	-	lod=20:289	-	-	-	hom	1
10	19	48325187	T	C	ENST00000221996	ENSG00000105392	48322703	48346587	ENSP00000221996	CRX	1	CRX_HUMAN	-	-	5'_UTR	rs10418215	0.2251	-	lod=20:289	-	-	-	het	2
11	19	48325187	T	C	ENST00000539067	ENSG00000105392	48322703	48346587	ENSP00000445565	CRX	1	CRX_HUMAN	-	-	5'_UTR	rs10418215	0.2251	-	lod=20:289	-	-	-	hom	1
12	19	48325187	T	C	ENST00000539067	ENSG00000105392	48322703	48346587	ENSP00000445565	CRX	1	CRX_HUMAN	-	-	5'_UTR	rs10418215	0.2251	-	lod=20:289	-	-	-	het	2
13	19	48325187	T	C	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.1387T>C	p.C463R	non-syn	rs10418215	0.2251	-	lod=20:289	-	-	-	hom	1
14	19	48325187	T	C	ENST00000604324	ENSG00000105392	48322703	48346587	-	CRX	1	-	c.1387T>C	p.C463R	non-syn	rs10418215	0.2251	-	lod=20:289	-	-	-	het	2
15	19	48337694	G	A	ENST00000221996	ENSG00000105392	48322703	48346587	ENSP00000221996	CRX	1	CRX_HUMAN	-	-	5'_UTR	rs200832191	-	-	-	-	-	-	het	1
16	19	48337694	G	A	ENST00000539067	ENSG00000105392	48322703	48346587	ENSP00000445565	CRX	1	CRX_HUMAN	-	-	5'_UTR	rs200832191	-	-	-	-	-	-	het	1
17	19	48337694	G	A	ENST00000566686	ENSG00000105392	48322703	48346587	ENSP00000457808	CRX	1	-	-	-	5'_UTR	rs200832191	-	-	-	-	-	-	het	1
18	19	48337722	G	C	ENST00000221996	ENSG00000105392	48322703	48346587	ENSP00000221996	CRX	1	CRX_HUMAN	c.22G>C	p.G8R	non-syn	rs146240568	0.0015	C=0/G=8600;C=2/G=4404;C=2/G=13004	lod=257:562	TOLERATED	D	-	het	1
19	19	48337722	G	C	ENST00000535362	ENSG00000105392	48322703	48346587	ENSP00000440389	CRX	1	-	c.22G>C	p.G8R	non-syn	rs146240568	0.0015	C=0/G=8600;C=2/G=4404;C=2/G=13004	lod=257:562	TOLERATED	D	-	het	1
20	19	48337722	G	C	ENST00000539067	ENSG00000105392	48322703	48346587	ENSP00000445565	CRX	1	CRX_HUMAN	c.22G>C	p.G8R	non-syn	rs146240568	0.0015	C=0/G=8600;C=2/G=4404;C=2/G=13004	lod=257:562	TOLERATED	D	-	het	1

** 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,
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Transcripts and variants in the surrounding CRX 19:48322703..48346587 region Gbrowse