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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 ERCC1:

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
ENSG00000012061	ERCC1	0	0	9	ENSG00000012061	ENST00000592410		excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) [Source:HGNC Symbol;Acc:3433]	19	45910591	45982086	-1	q13.32	45916694	45917735	ERCC1	ERCC1-017	HGNC Symbol	HGNC transcript name	17	52.1	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	2067	3433	ERCC1		27526

MSeqDR Master Exome Data Set M1: 234 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	45910672	A	G	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	rs1046282	0.29487	-	-	-	-	-	het	37
2	19	45910672	A	G	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	rs1046282	0.29487	-	-	-	-	-	hom	10
3	19	45910672	A	G	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	rs1046282	0.29487	-	-	-	-	-	het	37
4	19	45910672	A	G	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	rs1046282	0.29487	-	-	-	-	-	hom	10
5	19	45911052	T	G	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	19	45911052	T	G	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	19	45911267	A	G	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
8	19	45911267	A	G	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	20
9	19	45911267	A	G	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
10	19	45911267	A	G	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	20
11	19	45911309	C	+A	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	rs35708119	-	-	-	-	-	-	het	189
12	19	45911309	C	+A	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	rs35708119	-	-	-	-	-	-	hom	3
13	19	45911309	C	+A	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	rs35708119	-	-	-	-	-	-	het	189
14	19	45911309	C	+A	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	rs35708119	-	-	-	-	-	-	hom	3
15	19	45911319	C	+A	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	19	45911319	C	-A	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	rs11314106	-	-	-	-	-	-	het	364
17	19	45911319	C	-A	ENST00000300853	ENSG00000012061	45910591	45982086	ENSP00000300853	ERCC1	-1	ERCC1_HUMAN	-	-	3'_UTR	rs11314106	-	-	-	-	-	-	hom	13
18	19	45911319	C	+A	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	19	45911319	C	-A	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	rs11314106	-	-	-	-	-	-	het	364
20	19	45911319	C	-A	ENST00000423698	ENSG00000012061	45910591	45982086	ENSP00000394875	ERCC1	-1	-	-	-	3'_UTR	rs11314106	-	-	-	-	-	-	hom	13

** 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 ERCC1 19:45910591..45982086 region Gbrowse