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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 HARS:

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
ENSG00000170445	HARS	1	24	12	ENSG00000170445	ENST00000415192	ENSP00000411085	histidyl-tRNA synthetase [Source:HGNC Symbol;Acc:4816]	5	140052758	140071609	-1	q31.3	140053786	140070926	HARS	HARS-011	HGNC Symbol	HGNC transcript name	14	46.01	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	101928623	4816	HARS		27527

MSeqDR Master Exome Data Set M1: 217 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	140052797	C	G	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	5	140052987	G	A	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	5	140052992	T	C	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	5	140053034	G	A	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	rs114176478	0.0065	A=17/G=3165;A=1/G=1383;A=18/G=4548	-	-	-	-	het	4
5	5	140053351	G	C	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	rs2530242	0.4182	-	-	-	-	-	hom	131
6	5	140053351	G	C	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	rs2530242	0.4182	-	-	-	-	-	het	331
7	5	140053369	C	T	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	5	140053381	G	A	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	5	140053530	G	C	ENST00000307633	ENSG00000170445	140052758	140071609	ENSP00000304668	HARS	-1	-	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
10	5	140053530	G	C	ENST00000431330	ENSG00000170445	140052758	140071609	ENSP00000393244	HARS	-1	-	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
11	5	140053530	G	C	ENST00000438307	ENSG00000170445	140052758	140071609	ENSP00000411511	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
12	5	140053530	G	C	ENST00000448240	ENSG00000170445	140052758	140071609	ENSP00000413605	HARS	-1	-	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
13	5	140053530	G	C	ENST00000457527	ENSG00000170445	140052758	140071609	ENSP00000387893	HARS	-1	-	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
14	5	140053530	G	C	ENST00000504156	ENSG00000170445	140052758	140071609	ENSP00000425634	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
15	5	140053530	G	C	ENST00000504366	ENSG00000170445	140052758	140071609	ENSP00000430063	HARS	-1	-	-	-	3'_UTR	rs145532449	0.0073	-	-	-	-	-	het	6
16	5	140053561	G	A	ENST00000307633	ENSG00000170445	140052758	140071609	ENSP00000304668	HARS	-1	-	-	-	3'_UTR	rs77576083	0.0127	-	-	-	-	-	het	2
17	5	140053561	G	A	ENST00000431330	ENSG00000170445	140052758	140071609	ENSP00000393244	HARS	-1	-	-	-	3'_UTR	rs77576083	0.0127	-	-	-	-	-	het	2
18	5	140053561	G	A	ENST00000438307	ENSG00000170445	140052758	140071609	ENSP00000411511	HARS	-1	SYHC_HUMAN	-	-	3'_UTR	rs77576083	0.0127	-	-	-	-	-	het	2
19	5	140053561	G	A	ENST00000448240	ENSG00000170445	140052758	140071609	ENSP00000413605	HARS	-1	-	-	-	3'_UTR	rs77576083	0.0127	-	-	-	-	-	het	2
20	5	140053561	G	A	ENST00000457527	ENSG00000170445	140052758	140071609	ENSP00000387893	HARS	-1	-	-	-	3'_UTR	rs77576083	0.0127	-	-	-	-	-	het	2

** 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 HARS 5:140052758..140071609 region Gbrowse