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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 MRE11A:

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
ENSG00000020922	MRE11A	0	1	441	ENSG00000020922	ENST00000323929	ENSP00000325863	MRE11 meiotic recombination 11 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:7230]	11	94152895	94227074	-1	q21	94152895	94227074	MRE11A	MRE11A-001	HGNC Symbol	HGNC transcript name	10	37.27	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4361	7230	MRE11A	NM_005591	27504

MSeqDR Master Exome Data Set M1: 179 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	11	94153098	A	G	ENST00000323929	ENSG00000020922	94152895	94227074	ENSP00000325863	MRE11A	-1	MRE11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	11	94153098	A	G	ENST00000323977	ENSG00000020922	94152895	94227074	ENSP00000326094	MRE11A	-1	MRE11_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	11	94153098	A	G	ENST00000393241	ENSG00000020922	94152895	94227074	ENSP00000376933	MRE11A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	11	94153098	A	G	ENST00000407439	ENSG00000020922	94152895	94227074	ENSP00000385614	MRE11A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	11	94153102	C	T	ENST00000323929	ENSG00000020922	94152895	94227074	ENSP00000325863	MRE11A	-1	MRE11_HUMAN	-	-	3'_UTR	rs151287483	0.00188	-	-	-	-	-	het	3
6	11	94153102	C	T	ENST00000323977	ENSG00000020922	94152895	94227074	ENSP00000326094	MRE11A	-1	MRE11_HUMAN	-	-	3'_UTR	rs151287483	0.00188	-	-	-	-	-	het	3
7	11	94153102	C	T	ENST00000393241	ENSG00000020922	94152895	94227074	ENSP00000376933	MRE11A	-1	-	-	-	3'_UTR	rs151287483	0.00188	-	-	-	-	-	het	3
8	11	94153102	C	T	ENST00000407439	ENSG00000020922	94152895	94227074	ENSP00000385614	MRE11A	-1	-	-	-	3'_UTR	rs151287483	0.00188	-	-	-	-	-	het	3
9	11	94153108	C	T	ENST00000323929	ENSG00000020922	94152895	94227074	ENSP00000325863	MRE11A	-1	MRE11_HUMAN	-	-	3'_UTR	rs13447745	0.00943	-	-	-	-	-	het	14
10	11	94153108	C	T	ENST00000323977	ENSG00000020922	94152895	94227074	ENSP00000326094	MRE11A	-1	MRE11_HUMAN	-	-	3'_UTR	rs13447745	0.00943	-	-	-	-	-	het	14
11	11	94153108	C	T	ENST00000393241	ENSG00000020922	94152895	94227074	ENSP00000376933	MRE11A	-1	-	-	-	3'_UTR	rs13447745	0.00943	-	-	-	-	-	het	14
12	11	94153108	C	T	ENST00000407439	ENSG00000020922	94152895	94227074	ENSP00000385614	MRE11A	-1	-	-	-	3'_UTR	rs13447745	0.00943	-	-	-	-	-	het	14
13	11	94153309	T	G	ENST00000323929	ENSG00000020922	94152895	94227074	ENSP00000325863	MRE11A	-1	MRE11_HUMAN	c.2109A>C	p.L703F	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
14	11	94153309	T	G	ENST00000323977	ENSG00000020922	94152895	94227074	ENSP00000326094	MRE11A	-1	MRE11_HUMAN	c.2025A>C	p.L675F	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
15	11	94153309	T	G	ENST00000393241	ENSG00000020922	94152895	94227074	ENSP00000376933	MRE11A	-1	-	c.2106A>C	p.L702F	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
16	11	94153309	T	G	ENST00000407439	ENSG00000020922	94152895	94227074	ENSP00000385614	MRE11A	-1	-	c.2118A>C	p.L706F	non-syn	NA	-	-	-	TOLERATED	B	-	het	3
17	11	94153326	T	C	ENST00000323929	ENSG00000020922	94152895	94227074	ENSP00000325863	MRE11A	-1	MRE11_HUMAN	c.2092A>G	p.M698V	non-syn	rs1805362	0.0243	C=0/T=8564;C=72/T=4324;C=72/T=12888	lod=49:385	TOLERATED	P	-	het	1
18	11	94153326	T	C	ENST00000323977	ENSG00000020922	94152895	94227074	ENSP00000326094	MRE11A	-1	MRE11_HUMAN	c.2008A>G	p.M670V	non-syn	rs1805362	0.0243	C=0/T=8564;C=72/T=4324;C=72/T=12888	lod=49:385	TOLERATED	P	-	het	1
19	11	94153326	T	C	ENST00000393241	ENSG00000020922	94152895	94227074	ENSP00000376933	MRE11A	-1	-	c.2089A>G	p.M697V	non-syn	rs1805362	0.0243	C=0/T=8564;C=72/T=4324;C=72/T=12888	lod=49:385	TOLERATED	P	-	het	1
20	11	94153326	T	C	ENST00000407439	ENSG00000020922	94152895	94227074	ENSP00000385614	MRE11A	-1	-	c.2101A>G	p.M701V	non-syn	rs1805362	0.0243	C=0/T=8564;C=72/T=4324;C=72/T=12888	lod=49:385	TOLERATED	P	-	het	1

** 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.

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Transcripts and variants in the surrounding MRE11A 11:94152895..94227074 region Gbrowse