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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 NAA10:

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
ENSG00000268281	NAA10	0	0	10	ENSG00000268281	ENST00000593963		N(alpha)-acetyltransferase 10, NatA catalytic subunit [Source:HGNC Symbol;Acc:18704]	HG1497_PATCH	153097712	153103693	-1	q28	153102500	153103476	NAA10	NAA10-008	HGNC Symbol	HGNC transcript name	16	58.17	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	8260	18704	NAA10		0
ENSG00000102030	NAA10	0	0	10	ENSG00000102030	ENST00000464845	ENSP00000417763	N(alpha)-acetyltransferase 10, NatA catalytic subunit [Source:HGNC Symbol;Acc:18704]	X	153194695	153200676	-1	q28	153194695	153200676	NAA10	NAA10-001	HGNC Symbol	HGNC transcript name	16	58.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8260	18704	NAA10	NM_001256120	27516

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MSeqDR Master Exome Data Set M1: 101 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	X	153195080	G	A	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs187515476	0.009	-	-	-	-	-	het	3
2	X	153195080	G	A	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs187515476	0.009	-	-	-	-	-	hom	6
3	X	153195151	G	-CCAAGCAGACCT	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	X	153195158	A	C	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs191475980	-	-	-	-	-	-	het	3
5	X	153195158	A	C	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs191475980	-	-	-	-	-	-	hom	1
6	X	153195393	G	A	ENST00000370009	ENSG00000102030	153194695	153200676	ENSP00000359026	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	hom	114
7	X	153195393	G	A	ENST00000370009	ENSG00000102030	153194695	153200676	ENSP00000359026	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	het	137
8	X	153195393	G	A	ENST00000370015	ENSG00000102030	153194695	153200676	ENSP00000359032	NAA10	-1	-	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	hom	114
9	X	153195393	G	A	ENST00000370015	ENSG00000102030	153194695	153200676	ENSP00000359032	NAA10	-1	-	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	het	137
10	X	153195393	G	A	ENST00000393712	ENSG00000102030	153194695	153200676	ENSP00000377315	NAA10	-1	-	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	hom	114
11	X	153195393	G	A	ENST00000393712	ENSG00000102030	153194695	153200676	ENSP00000377315	NAA10	-1	-	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	het	137
12	X	153195393	G	A	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	hom	114
13	X	153195393	G	A	ENST00000464845	ENSG00000102030	153194695	153200676	ENSP00000417763	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	het	137
14	X	153195393	G	A	ENST00000466877	ENSG00000102030	153194695	153200676	-	NAA10	-1	-	c.1066C>T	p.R356C	non-syn	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	hom	114
15	X	153195393	G	A	ENST00000466877	ENSG00000102030	153194695	153200676	-	NAA10	-1	-	c.1066C>T	p.R356C	non-syn	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	het	137
16	X	153195393	G	A	ENST00000482485	ENSG00000102030	153194695	153200676	-	NAA10	-1	-	c.962C>T	p.S321L	non-syn	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	hom	114
17	X	153195393	G	A	ENST00000482485	ENSG00000102030	153194695	153200676	-	NAA10	-1	-	c.962C>T	p.S321L	non-syn	rs2071128	0.5153	A=905/G=5823;A=175/G=3660;A=1080/G=9483	-	-	-	-	het	137
18	X	153195402	G	T	ENST00000370009	ENSG00000102030	153194695	153200676	ENSP00000359026	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	NA	-	-	lod=17:272	-	-	-	het	1
19	X	153195402	G	T	ENST00000370009	ENSG00000102030	153194695	153200676	ENSP00000359026	NAA10	-1	NAA10_HUMAN	-	-	3'_UTR	NA	-	-	lod=17:272	-	-	-	hom	1
20	X	153195402	G	T	ENST00000370015	ENSG00000102030	153194695	153200676	ENSP00000359032	NAA10	-1	-	-	-	3'_UTR	NA	-	-	lod=17:272	-	-	-	het	1

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Transcripts and variants in the surrounding NAA10 X:153194695..153200676 region Gbrowse