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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 EPG5:

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
ENSG00000152223	EPG5	0	0	9	ENSG00000152223	ENST00000590854	ENSP00000467066	ectopic P-granules autophagy protein 5 homolog (C. elegans) [Source:HGNC Symbol;Acc:29331]	18	43427574	43547240	-1	q21.1	43427574	43447715	EPG5	EPG5-009	HGNC Symbol	HGNC transcript name	10	40.87	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	57724	29331	EPG5		27512

MSeqDR Master Exome Data Set M1: 513 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	18	43427585	C	T	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	18	43427585	C	T	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	18	43427623	G	A	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	rs1055066	0.365	-	lod=42:369	-	-	-	het	152
4	18	43427623	G	A	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	rs1055066	0.365	-	lod=42:369	-	-	-	hom	15
5	18	43427623	G	A	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	rs1055066	0.365	-	lod=42:369	-	-	-	het	152
6	18	43427623	G	A	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	rs1055066	0.365	-	lod=42:369	-	-	-	hom	15
7	18	43427690	A	G	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	18	43427690	A	G	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	18	43427918	G	A	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	rs500904	0.1306	-	-	-	-	-	het	37
10	18	43427918	G	A	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	rs500904	0.1306	-	-	-	-	-	het	37
11	18	43427957	A	+T	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	23
12	18	43427957	A	+T	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	177
13	18	43427957	A	+T	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	23
14	18	43427957	A	+T	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	177
15	18	43428216	T	A	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	18	43428216	T	A	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
17	18	43428323	T	+GG	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	13
18	18	43428323	T	+GG	ENST00000282041	ENSG00000152223	43427574	43547240	ENSP00000282041	EPG5	-1	EPG5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	5
19	18	43428323	T	+GG	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	13
20	18	43428323	T	+GG	ENST00000590854	ENSG00000152223	43427574	43547240	ENSP00000467066	EPG5	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	5

** 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 EPG5 18:43427574..43547240 region Gbrowse