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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 NGLY1:

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
ENSG00000151092	NGLY1	1	10	10	ENSG00000151092	ENST00000489271		N-glycanase 1 [Source:HGNC Symbol;Acc:17646]	3	25760435	25831530	-1	p24.2	25760435	25772041	NGLY1	NGLY1-006	HGNC Symbol	HGNC transcript name	16	37.55	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	55768	17646	NGLY1		27517

MSeqDR Master Exome Data Set M1: 290 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	3	25760587	G	C	ENST00000428257	ENSG00000151092	25760435	25831530	ENSP00000387430	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	rs77392761	0.00977	-	-	-	-	-	het	4
2	3	25760587	G	C	ENST00000489271	ENSG00000151092	25760435	25831530	-	NGLY1	-1	-	c.2136C>G	p.S712R	non-syn	rs77392761	0.00977	-	-	-	-	-	het	4
3	3	25760836	A	G	ENST00000280699	ENSG00000151092	25760435	25831530	ENSP00000280699	NGLY1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	3	25760836	A	G	ENST00000280700	ENSG00000151092	25760435	25831530	ENSP00000280700	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	3	25760836	A	G	ENST00000308710	ENSG00000151092	25760435	25831530	ENSP00000307980	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	3	25760836	A	G	ENST00000396649	ENSG00000151092	25760435	25831530	ENSP00000379886	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	3	25760836	A	G	ENST00000422724	ENSG00000151092	25760435	25831530	ENSP00000395878	NGLY1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	3	25760836	A	G	ENST00000428257	ENSG00000151092	25760435	25831530	ENSP00000387430	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	3	25760836	A	G	ENST00000467224	ENSG00000151092	25760435	25831530	-	NGLY1	-1	-	c.652T>C	p.*218Q	non-syn	NA	-	-	-	-	-	-	het	1
10	3	25760836	A	G	ENST00000489271	ENSG00000151092	25760435	25831530	-	NGLY1	-1	-	c.1887T>C	p.A629A	syn	NA	-	-	-	-	-	-	het	1
11	3	25760836	A	G	ENST00000493324	ENSG00000151092	25760435	25831530	-	NGLY1	-1	-	c.2983T>C	p.*995Q	non-syn	NA	-	-	-	-	-	-	het	1
12	3	25760836	A	G	ENST00000496726	ENSG00000151092	25760435	25831530	-	NGLY1	-1	-	c.3130T>C	p.*1044Q	non-syn	NA	-	-	-	-	-	-	het	1
13	3	25760918	A	G	ENST00000280699	ENSG00000151092	25760435	25831530	ENSP00000280699	NGLY1	-1	-	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
14	3	25760918	A	G	ENST00000280700	ENSG00000151092	25760435	25831530	ENSP00000280700	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
15	3	25760918	A	G	ENST00000308710	ENSG00000151092	25760435	25831530	ENSP00000307980	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
16	3	25760918	A	G	ENST00000396649	ENSG00000151092	25760435	25831530	ENSP00000379886	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
17	3	25760918	A	G	ENST00000417874	ENSG00000151092	25760435	25831530	ENSP00000389888	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
18	3	25760918	A	G	ENST00000422724	ENSG00000151092	25760435	25831530	ENSP00000395878	NGLY1	-1	-	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
19	3	25760918	A	G	ENST00000428257	ENSG00000151092	25760435	25831530	ENSP00000387430	NGLY1	-1	NGLY1_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
20	3	25760918	A	G	ENST00000467224	ENSG00000151092	25760435	25831530	-	NGLY1	-1	-	c.570T>C	p.N190N	syn	NA	-	-	lod=16:265	-	-	-	het	1

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Transcripts and variants in the surrounding NGLY1 3:25760435..25831530 region Gbrowse