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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 EGR2:

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
ENSG00000122877	EGR2	0	0	15	ENSG00000122877	ENST00000242480	ENSP00000242480	early growth response 2 [Source:HGNC Symbol;Acc:3239]	10	64571756	64679660	-1	q21.3	64571756	64576115	EGR2	EGR2-001	HGNC Symbol	HGNC transcript name	4	42.64	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1959	3239	EGR2	NM_001136177	27525

MSeqDR Master Exome Data Set M1: 86 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	10	64571794	C	T	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=249:559	-	-	-	het	1
2	10	64571794	C	T	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=249:559	-	-	-	het	1
3	10	64571794	C	T	ENST00000439032	ENSG00000122877	64571756	64679660	ENSP00000402040	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=249:559	-	-	-	het	1
4	10	64571888	C	T	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs41300544	0.00186	-	lod=1734:766	-	-	-	het	6
5	10	64571888	C	T	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs41300544	0.00186	-	lod=1734:766	-	-	-	het	6
6	10	64571888	C	T	ENST00000439032	ENSG00000122877	64571756	64679660	ENSP00000402040	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs41300544	0.00186	-	lod=1734:766	-	-	-	het	6
7	10	64572037	A	-T	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs11325764	-	-	lod=1734:766	-	-	-	het	85
8	10	64572037	A	-T	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs11325764	-	-	lod=1734:766	-	-	-	hom	684
9	10	64572037	A	-T	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs11325764	-	-	lod=1734:766	-	-	-	het	85
10	10	64572037	A	-T	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs11325764	-	-	lod=1734:766	-	-	-	hom	684
11	10	64572037	A	-T	ENST00000439032	ENSG00000122877	64571756	64679660	ENSP00000402040	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs11325764	-	-	lod=1734:766	-	-	-	het	85
12	10	64572037	A	-T	ENST00000439032	ENSG00000122877	64571756	64679660	ENSP00000402040	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs11325764	-	-	lod=1734:766	-	-	-	hom	684
13	10	64572078	C	T	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs149676074	0.0153	-	lod=1734:766	-	-	-	het	1
14	10	64572078	C	T	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs149676074	0.0153	-	lod=1734:766	-	-	-	het	1
15	10	64572078	C	T	ENST00000439032	ENSG00000122877	64571756	64679660	ENSP00000402040	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs149676074	0.0153	-	lod=1734:766	-	-	-	het	1
16	10	64572093	T	C	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs61865882	0.1089	-	lod=1734:766	-	-	-	het	80
17	10	64572093	T	C	ENST00000242480	ENSG00000122877	64571756	64679660	ENSP00000242480	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs61865882	0.1089	-	lod=1734:766	-	-	-	hom	7
18	10	64572093	T	C	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs61865882	0.1089	-	lod=1734:766	-	-	-	het	80
19	10	64572093	T	C	ENST00000411732	ENSG00000122877	64571756	64679660	ENSP00000387634	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs61865882	0.1089	-	lod=1734:766	-	-	-	hom	7
20	10	64572093	T	C	ENST00000439032	ENSG00000122877	64571756	64679660	ENSP00000402040	EGR2	-1	EGR2_HUMAN	-	-	3'_UTR	rs61865882	0.1089	-	lod=1734:766	-	-	-	het	80

** 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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Transcripts and variants in the surrounding EGR2 10:64571756..64679660 region Gbrowse