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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 ERCC3:

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
ENSG00000163161	ERCC3	0	0	17	ENSG00000163161	ENST00000426778	ENSP00000415335	excision repair cross-complementing rodent repair deficiency, complementation group 3 [Source:HGNC Symbol;Acc:3435]	2	128014866	128051752	-1	q14.3	128014866	128051721	ERCC3	ERCC3-005	HGNC Symbol	HGNC transcript name	10	46.18	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	2071	3435	ERCC3		27508

MSeqDR Master Exome Data Set M1: 197 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	2	128014913	C	T	ENST00000285398	ENSG00000163161	128014866	128051752	ENSP00000285398	ERCC3	-1	ERCC3_HUMAN	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	het	85
2	2	128014913	C	T	ENST00000285398	ENSG00000163161	128014866	128051752	ENSP00000285398	ERCC3	-1	ERCC3_HUMAN	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	hom	4
3	2	128014913	C	T	ENST00000426778	ENSG00000163161	128014866	128051752	ENSP00000415335	ERCC3	-1	-	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	het	85
4	2	128014913	C	T	ENST00000426778	ENSG00000163161	128014866	128051752	ENSP00000415335	ERCC3	-1	-	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	hom	4
5	2	128014913	C	T	ENST00000445889	ENSG00000163161	128014866	128051752	ENSP00000390888	ERCC3	-1	-	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	het	85
6	2	128014913	C	T	ENST00000445889	ENSG00000163161	128014866	128051752	ENSP00000390888	ERCC3	-1	-	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	hom	4
7	2	128014913	C	T	ENST00000491292	ENSG00000163161	128014866	128051752	-	ERCC3	-1	-	c.3978G>A	p.V1326V	syn	rs1803541	0.0442	-	-	-	-	-	het	85
8	2	128014913	C	T	ENST00000491292	ENSG00000163161	128014866	128051752	-	ERCC3	-1	-	c.3978G>A	p.V1326V	syn	rs1803541	0.0442	-	-	-	-	-	hom	4
9	2	128014913	C	T	ENST00000493187	ENSG00000163161	128014866	128051752	ENSP00000444796	ERCC3	-1	-	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	het	85
10	2	128014913	C	T	ENST00000493187	ENSG00000163161	128014866	128051752	ENSP00000444796	ERCC3	-1	-	-	-	3'_UTR	rs1803541	0.0442	-	-	-	-	-	hom	4
11	2	128014929	A	+T	ENST00000285398	ENSG00000163161	128014866	128051752	ENSP00000285398	ERCC3	-1	ERCC3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
12	2	128014929	A	+T	ENST00000426778	ENSG00000163161	128014866	128051752	ENSP00000415335	ERCC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
13	2	128014929	A	+T	ENST00000445889	ENSG00000163161	128014866	128051752	ENSP00000390888	ERCC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	2	128014929	A	+T	ENST00000491292	ENSG00000163161	128014866	128051752	-	ERCC3	-1	-	c.3961_3962insA	p.M1321NA	non-syn	NA	-	-	-	-	-	-	het	3
15	2	128014929	A	+T	ENST00000493187	ENSG00000163161	128014866	128051752	ENSP00000444796	ERCC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	2	128014989	C	G	ENST00000285398	ENSG00000163161	128014866	128051752	ENSP00000285398	ERCC3	-1	ERCC3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	2	128014989	C	G	ENST00000426778	ENSG00000163161	128014866	128051752	ENSP00000415335	ERCC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	2	128014989	C	G	ENST00000445889	ENSG00000163161	128014866	128051752	ENSP00000390888	ERCC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	2	128014989	C	G	ENST00000491292	ENSG00000163161	128014866	128051752	-	ERCC3	-1	-	c.3902G>C	p.R1301T	non-syn	NA	-	-	-	-	-	-	het	1
20	2	128014989	C	G	ENST00000493187	ENSG00000163161	128014866	128051752	ENSP00000444796	ERCC3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding ERCC3 2:128014866..128051752 region Gbrowse