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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 ENSG00000100416:

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
ENSG00000100416	TRMU	1	74	40	ENSG00000100416	ENST00000465378		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase [Source:HGNC Symbol;Acc:25481]	22	46726772	46753237	1	q13.31	46731790	46742441	TRMU	TRMU-012	HGNC Symbol	HGNC transcript name	19	52.44	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	55687	25481	TRMU		27510

MSeqDR Master Exome Data Set M1: 550 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	22	46729084	G	A	ENST00000476901	ENSG00000100416	46726772	46753237	-	TRMU	1	-	c.964G>A	p.E322K	non-syn	rs114811368	0.0227	-	-	-	-	-	het	1
2	22	46731381	G	A	ENST00000290846	ENSG00000100416	46726772	46753237	ENSP00000290846	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	het	5
3	22	46731381	G	A	ENST00000290846	ENSG00000100416	46726772	46753237	ENSP00000290846	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	hom	2
4	22	46731381	G	A	ENST00000381021	ENSG00000100416	46726772	46753237	ENSP00000370409	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	het	5
5	22	46731381	G	A	ENST00000381021	ENSG00000100416	46726772	46753237	ENSP00000370409	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	hom	2
6	22	46731381	G	A	ENST00000441818	ENSG00000100416	46726772	46753237	ENSP00000393014	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	het	5
7	22	46731381	G	A	ENST00000441818	ENSG00000100416	46726772	46753237	ENSP00000393014	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	hom	2
8	22	46731381	G	A	ENST00000453630	ENSG00000100416	46726772	46753237	ENSP00000398488	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	het	5
9	22	46731381	G	A	ENST00000453630	ENSG00000100416	46726772	46753237	ENSP00000398488	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	hom	2
10	22	46731381	G	A	ENST00000456595	ENSG00000100416	46726772	46753237	ENSP00000413880	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	het	5
11	22	46731381	G	A	ENST00000456595	ENSG00000100416	46726772	46753237	ENSP00000413880	TRMU	1	-	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	hom	2
12	22	46731381	G	A	ENST00000457572	ENSG00000100416	46726772	46753237	ENSP00000407700	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	het	5
13	22	46731381	G	A	ENST00000457572	ENSG00000100416	46726772	46753237	ENSP00000407700	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs148373924	0.0027	-	-	-	-	-	hom	2
14	22	46731383	G	A	ENST00000290846	ENSG00000100416	46726772	46753237	ENSP00000290846	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs187162795	0.018	-	-	-	-	-	het	15
15	22	46731383	G	A	ENST00000381021	ENSG00000100416	46726772	46753237	ENSP00000370409	TRMU	1	-	-	-	5'_UTR	rs187162795	0.018	-	-	-	-	-	het	15
16	22	46731383	G	A	ENST00000441818	ENSG00000100416	46726772	46753237	ENSP00000393014	TRMU	1	-	-	-	5'_UTR	rs187162795	0.018	-	-	-	-	-	het	15
17	22	46731383	G	A	ENST00000453630	ENSG00000100416	46726772	46753237	ENSP00000398488	TRMU	1	-	-	-	5'_UTR	rs187162795	0.018	-	-	-	-	-	het	15
18	22	46731383	G	A	ENST00000456595	ENSG00000100416	46726772	46753237	ENSP00000413880	TRMU	1	-	-	-	5'_UTR	rs187162795	0.018	-	-	-	-	-	het	15
19	22	46731383	G	A	ENST00000457572	ENSG00000100416	46726772	46753237	ENSP00000407700	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs187162795	0.018	-	-	-	-	-	het	15
20	22	46731484	G	A	ENST00000290846	ENSG00000100416	46726772	46753237	ENSP00000290846	TRMU	1	MTU1_HUMAN	-	-	5'_UTR	rs114587018	0.0603	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding TRMU 22:46726772..46753237 region Gbrowse