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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 LYRM7:

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
ENSG00000186687	LYRM7	1	11	5	ENSG00000186687	ENST00000379380	ENSP00000368688	LYR motif containing 7 [Source:HGNC Symbol;Acc:28072]	5	130506503	130541119	1	q23.3	130506503	130541119	LYRM7	LYRM7-001	HGNC Symbol	HGNC transcript name	4	38.11	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	90624	28072	LYRM7	NM_181705	27527

MSeqDR Master Exome Data Set M1: 120 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	130506538	G	A	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	-	-	5'_UTR	rs138005250	0.0188	-	-	-	-	-	het	2
2	5	130506538	G	T	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	5	130506611	T	C	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	5	130506622	C	T	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	-	-	5'_UTR	rs149480722	0.00098	T=6/C=3176;T=0/C=1384;T=6/C=4560	-	-	-	-	het	2
5	5	130506741	C	T	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	-	-	+10bp 5'_splice_site	rs2285978	0.0263	T=3/C=8593;T=0/C=4400;T=3/C=12993	-	-	-	-	het	8
6	5	130506741	C	T	ENST00000507584	ENSG00000186687	130506503	130541119	ENSP00000423991	LYRM7	1	-	-	-	+10bp 5'_splice_site	rs2285978	0.0263	T=3/C=8593;T=0/C=4400;T=3/C=12993	-	-	-	-	het	8
7	5	130506741	C	T	ENST00000510516	ENSG00000186687	130506503	130541119	ENSP00000423283	LYRM7	1	-	-	-	+10bp 5'_splice_site	rs2285978	0.0263	T=3/C=8593;T=0/C=4400;T=3/C=12993	-	-	-	-	het	8
8	5	130515811	G	A	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	c.42G>A	p.L14L	syn	rs113642581	0.04376	A=374/G=8226;A=36/G=4370;A=410/G=12596	lod=187:528	-	-	-	hom	2
9	5	130515811	G	A	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	c.42G>A	p.L14L	syn	rs113642581	0.04376	A=374/G=8226;A=36/G=4370;A=410/G=12596	lod=187:528	-	-	-	het	54
10	5	130515811	G	A	ENST00000507584	ENSG00000186687	130506503	130541119	ENSP00000423991	LYRM7	1	-	c.42G>A	p.L14L	syn	rs113642581	0.04376	A=374/G=8226;A=36/G=4370;A=410/G=12596	lod=187:528	-	-	-	hom	2
11	5	130515811	G	A	ENST00000507584	ENSG00000186687	130506503	130541119	ENSP00000423991	LYRM7	1	-	c.42G>A	p.L14L	syn	rs113642581	0.04376	A=374/G=8226;A=36/G=4370;A=410/G=12596	lod=187:528	-	-	-	het	54
12	5	130515811	G	A	ENST00000510516	ENSG00000186687	130506503	130541119	ENSP00000423283	LYRM7	1	-	c.42G>A	p.L14L	syn	rs113642581	0.04376	A=374/G=8226;A=36/G=4370;A=410/G=12596	lod=187:528	-	-	-	hom	2
13	5	130515811	G	A	ENST00000510516	ENSG00000186687	130506503	130541119	ENSP00000423283	LYRM7	1	-	c.42G>A	p.L14L	syn	rs113642581	0.04376	A=374/G=8226;A=36/G=4370;A=410/G=12596	lod=187:528	-	-	-	het	54
14	5	130515820	C	T	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	c.51C>T	p.T17T	syn	rs144249672	-	T=11/C=8589;T=3/C=4403;T=14/C=12992	lod=187:528	-	-	-	het	2
15	5	130515820	C	T	ENST00000507584	ENSG00000186687	130506503	130541119	ENSP00000423991	LYRM7	1	-	c.51C>T	p.T17T	syn	rs144249672	-	T=11/C=8589;T=3/C=4403;T=14/C=12992	lod=187:528	-	-	-	het	2
16	5	130515820	C	T	ENST00000510516	ENSG00000186687	130506503	130541119	ENSP00000423283	LYRM7	1	-	c.51C>T	p.T17T	syn	rs144249672	-	T=11/C=8589;T=3/C=4403;T=14/C=12992	lod=187:528	-	-	-	het	2
17	5	130517930	A	C	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	c.100A>C	p.I34L	non-syn	rs200336982	-	C=3/A=8299;C=2/A=4038;C=5/A=12337	lod=259:563	TOLERATED	B	-	het	3
18	5	130517930	A	C	ENST00000507584	ENSG00000186687	130506503	130541119	ENSP00000423991	LYRM7	1	-	c.100A>C	p.I34L	non-syn	rs200336982	-	C=3/A=8299;C=2/A=4038;C=5/A=12337	lod=259:563	TOLERATED	B	-	het	3
19	5	130517944	A	C	ENST00000379380	ENSG00000186687	130506503	130541119	ENSP00000368688	LYRM7	1	LYRM7_HUMAN	c.114A>C	p.E38D	non-syn	rs199715117	-	C=0/A=8270;C=27/A=4013;C=27/A=12283	lod=259:563	DAMAGING	P	-	het	1
20	5	130517944	A	C	ENST00000507584	ENSG00000186687	130506503	130541119	ENSP00000423991	LYRM7	1	-	c.114A>C	p.E38D	non-syn	rs199715117	-	C=0/A=8270;C=27/A=4013;C=27/A=12283	lod=259:563	DAMAGING	P	-	het	1

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Transcripts and variants in the surrounding LYRM7 5:130506503..130541119 region Gbrowse