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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 NSUN2:

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
ENSG00000037474	NSUN2	0	0	22	ENSG00000037474	ENST00000264670	ENSP00000264670	NOP2/Sun RNA methyltransferase family, member 2 [Source:HGNC Symbol;Acc:25994]	5	6599352	6633404	-1	p15.31	6599352	6633404	NSUN2	NSUN2-001	HGNC Symbol	HGNC transcript name	10	43.29	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	54888	25994	NSUN2	NM_017755	27527

MSeqDR Master Exome Data Set M1: 426 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	5	6599442	T	G	ENST00000264670	ENSG00000037474	6599352	6633404	ENSP00000264670	NSUN2	-1	NSUN2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	5	6599442	T	G	ENST00000504374	ENSG00000037474	6599352	6633404	ENSP00000421783	NSUN2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	5	6599442	T	G	ENST00000505892	ENSG00000037474	6599352	6633404	-	NSUN2	-1	-	c.3470A>C	p.Y1157S	non-syn	NA	-	-	-	-	-	-	het	1
4	5	6599442	T	G	ENST00000539938	ENSG00000037474	6599352	6633404	ENSP00000444338	NSUN2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	5	6599458	A	G	ENST00000264670	ENSG00000037474	6599352	6633404	ENSP00000264670	NSUN2	-1	NSUN2_HUMAN	-	-	3'_UTR	rs142451419	0.0424	-	-	-	-	-	het	3
6	5	6599458	A	G	ENST00000504374	ENSG00000037474	6599352	6633404	ENSP00000421783	NSUN2	-1	-	-	-	3'_UTR	rs142451419	0.0424	-	-	-	-	-	het	3
7	5	6599458	A	G	ENST00000505892	ENSG00000037474	6599352	6633404	-	NSUN2	-1	-	c.3454T>C	p.L1152L	syn	rs142451419	0.0424	-	-	-	-	-	het	3
8	5	6599458	A	G	ENST00000539938	ENSG00000037474	6599352	6633404	ENSP00000444338	NSUN2	-1	-	-	-	3'_UTR	rs142451419	0.0424	-	-	-	-	-	het	3
9	5	6599492	T	-G	ENST00000264670	ENSG00000037474	6599352	6633404	ENSP00000264670	NSUN2	-1	NSUN2_HUMAN	-	-	3'_UTR	rs200230801	-	-	-	-	-	-	hom	1
10	5	6599492	T	-G	ENST00000264670	ENSG00000037474	6599352	6633404	ENSP00000264670	NSUN2	-1	NSUN2_HUMAN	-	-	3'_UTR	rs200230801	-	-	-	-	-	-	het	71
11	5	6599492	T	-G	ENST00000504374	ENSG00000037474	6599352	6633404	ENSP00000421783	NSUN2	-1	-	-	-	3'_UTR	rs200230801	-	-	-	-	-	-	hom	1
12	5	6599492	T	-G	ENST00000504374	ENSG00000037474	6599352	6633404	ENSP00000421783	NSUN2	-1	-	-	-	3'_UTR	rs200230801	-	-	-	-	-	-	het	71
13	5	6599492	T	-G	ENST00000505892	ENSG00000037474	6599352	6633404	-	NSUN2	-1	-	c.3419_3419del	p.P1140NA	non-syn	rs200230801	-	-	-	-	-	-	hom	1
14	5	6599492	T	-G	ENST00000505892	ENSG00000037474	6599352	6633404	-	NSUN2	-1	-	c.3419_3419del	p.P1140NA	non-syn	rs200230801	-	-	-	-	-	-	het	71
15	5	6599492	T	-G	ENST00000539938	ENSG00000037474	6599352	6633404	ENSP00000444338	NSUN2	-1	-	-	-	3'_UTR	rs200230801	-	-	-	-	-	-	hom	1
16	5	6599492	T	-G	ENST00000539938	ENSG00000037474	6599352	6633404	ENSP00000444338	NSUN2	-1	-	-	-	3'_UTR	rs200230801	-	-	-	-	-	-	het	71
17	5	6599612	C	T	ENST00000264670	ENSG00000037474	6599352	6633404	ENSP00000264670	NSUN2	-1	NSUN2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	5	6599612	C	T	ENST00000504374	ENSG00000037474	6599352	6633404	ENSP00000421783	NSUN2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	5	6599612	C	T	ENST00000505892	ENSG00000037474	6599352	6633404	-	NSUN2	-1	-	c.3300G>A	p.K1100K	syn	NA	-	-	-	-	-	-	het	1
20	5	6599612	C	T	ENST00000513888	ENSG00000037474	6599352	6633404	-	NSUN2	-1	-	c.1191G>A	p.K397K	syn	NA	-	-	-	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding NSUN2 5:6599352..6633404 region Gbrowse