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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 ETHE1:

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
ENSG00000105755	ETHE1	1	98	16	ENSG00000105755	ENST00000292147	ENSP00000292147	ethylmalonic encephalopathy 1 [Source:HGNC Symbol;Acc:23287]	19	44010871	44031396	-1	q13.31	44010871	44031396	ETHE1	ETHE1-001	HGNC Symbol	HGNC transcript name	6	48.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23474	23287	ETHE1	NM_014297	27526

MSeqDR Master Exome Data Set M1: 94 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	44010947	C	A	ENST00000292147	ENSG00000105755	44010871	44031396	ENSP00000292147	ETHE1	-1	ETHE1_HUMAN	-	-	3'_UTR	rs201842186	-	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	hom	1
2	19	44010947	C	A	ENST00000292147	ENSG00000105755	44010871	44031396	ENSP00000292147	ETHE1	-1	ETHE1_HUMAN	-	-	3'_UTR	rs201842186	-	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	het	9
3	19	44010947	C	A	ENST00000594342	ENSG00000105755	44010871	44031396	ENSP00000469652	ETHE1	-1	-	-	-	3'_UTR	rs201842186	-	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	hom	1
4	19	44010947	C	A	ENST00000594342	ENSG00000105755	44010871	44031396	ENSP00000469652	ETHE1	-1	-	-	-	3'_UTR	rs201842186	-	A=7/C=3175;A=1/C=1383;A=8/C=4558	-	-	-	-	het	9
5	19	44010965	C	-A	ENST00000292147	ENSG00000105755	44010871	44031396	ENSP00000292147	ETHE1	-1	ETHE1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	19	44010965	C	-A	ENST00000594342	ENSG00000105755	44010871	44031396	ENSP00000469652	ETHE1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	19	44011897	C	T	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs2599450	0.5697	-	lod=103:464	-	-	-	het	26
8	19	44011897	C	T	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs2599450	0.5697	-	lod=103:464	-	-	-	hom	25
9	19	44011897	C	T	ENST00000600651	ENSG00000105755	44010871	44031396	ENSP00000469037	ETHE1	-1	-	-	-	3'_UTR	rs2599450	0.5697	-	lod=103:464	-	-	-	het	26
10	19	44011897	C	T	ENST00000600651	ENSG00000105755	44010871	44031396	ENSP00000469037	ETHE1	-1	-	-	-	3'_UTR	rs2599450	0.5697	-	lod=103:464	-	-	-	hom	25
11	19	44011915	T	C	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs12985024	0.1908	-	lod=103:464	-	-	-	het	30
12	19	44011915	T	C	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs12985024	0.1908	-	lod=103:464	-	-	-	hom	6
13	19	44011915	T	C	ENST00000600651	ENSG00000105755	44010871	44031396	ENSP00000469037	ETHE1	-1	-	-	-	3'_UTR	rs12985024	0.1908	-	lod=103:464	-	-	-	het	30
14	19	44011915	T	C	ENST00000600651	ENSG00000105755	44010871	44031396	ENSP00000469037	ETHE1	-1	-	-	-	3'_UTR	rs12985024	0.1908	-	lod=103:464	-	-	-	hom	6
15	19	44011942	T	C	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs2599451	0.4753	-	lod=17:272	-	-	-	het	42
16	19	44011942	T	C	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs2599451	0.4753	-	lod=17:272	-	-	-	hom	32
17	19	44011942	T	C	ENST00000600651	ENSG00000105755	44010871	44031396	ENSP00000469037	ETHE1	-1	-	-	-	3'_UTR	rs2599451	0.4753	-	lod=17:272	-	-	-	het	42
18	19	44011942	T	C	ENST00000600651	ENSG00000105755	44010871	44031396	ENSP00000469037	ETHE1	-1	-	-	-	3'_UTR	rs2599451	0.4753	-	lod=17:272	-	-	-	hom	32
19	19	44012005	G	A	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs2599452	0.5576	-	-	-	-	-	hom	208
20	19	44012005	G	A	ENST00000598330	ENSG00000105755	44010871	44031396	ENSP00000469219	ETHE1	-1	-	-	-	3'_UTR	rs2599452	0.5576	-	-	-	-	-	het	136

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ETHE1 19:44010871..44031396 region Gbrowse