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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 ERCC4:

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
ENSG00000175595	ERCC4	0	0	45	ENSG00000175595	ENST00000575156	ENSP00000459933	excision repair cross-complementing rodent repair deficiency, complementation group 4 [Source:HGNC Symbol;Acc:3436]	16	14014014	14046202	1	p13.12	14014014	14027104	ERCC4	ERCC4-003	HGNC Symbol	HGNC transcript name	8	39.57	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	2072	3436	ERCC4		27514

MSeqDR Master Exome Data Set M1: 134 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	16	14014038	C	T	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	c.16C>T	p.P6S	non-syn	rs61760160	-	T=12/C=8542;T=0/C=4376;T=12/C=12918	-	TOLERATED	B	Lung cancer, susceptibility to	het	1
2	16	14014038	C	T	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	c.16C>T	p.P6S	non-syn	rs61760160	-	T=12/C=8542;T=0/C=4376;T=12/C=12918	-	TOLERATED	B	Lung cancer, susceptibility to	het	1
3	16	14014055	C	T	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	c.33C>T	p.A11A	syn	rs3136042	0.0178	T=191/C=8403;T=29/C=4361;T=220/C=12764	lod=229:550	-	-	-	het	24
4	16	14014055	C	T	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	c.33C>T	p.A11A	syn	rs3136042	0.0178	T=191/C=8403;T=29/C=4361;T=220/C=12764	lod=229:550	-	-	-	hom	1
5	16	14014055	C	T	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	c.33C>T	p.A11A	syn	rs3136042	0.0178	T=191/C=8403;T=29/C=4361;T=220/C=12764	lod=229:550	-	-	-	het	24
6	16	14014055	C	T	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	c.33C>T	p.A11A	syn	rs3136042	0.0178	T=191/C=8403;T=29/C=4361;T=220/C=12764	lod=229:550	-	-	-	hom	1
7	16	14014055	C	T	ENST00000576348	ENSG00000175595	14014014	14046202	-	ERCC4	1	-	c.8C>T	p.P3L	non-syn	rs3136042	0.0178	T=191/C=8403;T=29/C=4361;T=220/C=12764	lod=229:550	-	-	-	het	24
8	16	14014055	C	T	ENST00000576348	ENSG00000175595	14014014	14046202	-	ERCC4	1	-	c.8C>T	p.P3L	non-syn	rs3136042	0.0178	T=191/C=8403;T=29/C=4361;T=220/C=12764	lod=229:550	-	-	-	hom	1
9	16	14014240	G	A	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	-	-	+11bp 5'_splice_site	rs762521	0.2264	A=2237/G=6161;A=692/G=3570;A=2929/G=9731	-	-	-	-	het	132
10	16	14014240	G	A	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	-	-	+11bp 5'_splice_site	rs762521	0.2264	A=2237/G=6161;A=692/G=3570;A=2929/G=9731	-	-	-	-	hom	35
11	16	14014240	G	A	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	-	-	+11bp 5'_splice_site	rs762521	0.2264	A=2237/G=6161;A=692/G=3570;A=2929/G=9731	-	-	-	-	het	132
12	16	14014240	G	A	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	-	-	+11bp 5'_splice_site	rs762521	0.2264	A=2237/G=6161;A=692/G=3570;A=2929/G=9731	-	-	-	-	hom	35
13	16	14014240	G	A	ENST00000576348	ENSG00000175595	14014014	14046202	-	ERCC4	1	-	-	-	+11bp 5'_splice_site	rs762521	0.2264	A=2237/G=6161;A=692/G=3570;A=2929/G=9731	-	-	-	-	het	132
14	16	14014240	G	A	ENST00000576348	ENSG00000175595	14014014	14046202	-	ERCC4	1	-	-	-	+11bp 5'_splice_site	rs762521	0.2264	A=2237/G=6161;A=692/G=3570;A=2929/G=9731	-	-	-	-	hom	35
15	16	14015932	C	T	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	c.252C>T	p.L84L	syn	rs3136056	0.01934	T=64/C=8536;T=3/C=4391;T=67/C=12927	lod=243:556	-	-	-	het	9
16	16	14015932	C	T	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	c.252C>T	p.L84L	syn	rs3136056	0.01934	T=64/C=8536;T=3/C=4391;T=67/C=12927	lod=243:556	-	-	-	het	9
17	16	14015932	C	T	ENST00000576348	ENSG00000175595	14014014	14046202	-	ERCC4	1	-	c.227C>T	p.S76F	non-syn	rs3136056	0.01934	T=64/C=8536;T=3/C=4391;T=67/C=12927	lod=243:556	-	-	-	het	9
18	16	14020450	G	A	ENST00000311895	ENSG00000175595	14014014	14046202	ENSP00000310520	ERCC4	1	XPF_HUMAN	c.421G>A	p.E141K	non-syn	NA	-	-	lod=261:564	DAMAGING	P	-	het	2
19	16	14020450	G	A	ENST00000574194	ENSG00000175595	14014014	14046202	ENSP00000461883	ERCC4	1	-	c.42G>A	p.S14S	syn	NA	-	-	lod=261:564	DAMAGING	P	-	het	2
20	16	14020450	G	A	ENST00000575156	ENSG00000175595	14014014	14046202	ENSP00000459933	ERCC4	1	-	c.421G>A	p.E141K	non-syn	NA	-	-	lod=261:564	DAMAGING	P	-	het	2

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Transcripts and variants in the surrounding ERCC4 16:14014014..14046202 region Gbrowse