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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 ENSG00000162377:

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
ENSG00000162377	COA7	1	2	0	ENSG00000162377	ENST00000371538	ENSP00000360593	cytochrome c oxidase assembly factor 7 [Source:HGNC Symbol;Acc:25716]	1	53152508	53164038	-1	p32.3	53152508	53164038	COA7	COA7-001	HGNC Symbol	HGNC transcript name	2	46.41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	65260	25716	COA7	NM_023077	27511

MSeqDR Master Exome Data Set M1: 21 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	1	53152848	A	G	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	rs7528624	0.0294	-	-	-	-	-	het	1
2	1	53152854	G	A	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=30:333	-	-	-	het	2
3	1	53152978	C	T	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	rs7517058	0.056	-	-	-	-	-	hom	1
4	1	53152978	C	T	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	rs7517058	0.056	-	-	-	-	-	het	6
5	1	53153044	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	rs407856	0.6254	-	-	-	-	-	het	307
6	1	53153044	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	rs407856	0.6254	-	-	-	-	-	hom	100
7	1	53153124	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	53153244	G	A	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	1	53153244	G	A	ENST00000486918	ENSG00000162377	53152508	53164038	-	SELRC1	-1	-	c.898C>T	p.P300S	non-syn	NA	-	-	-	-	-	-	het	2
10	1	53153432	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	c.656A>G	p.K219R	non-syn	rs443751	0.32689	C=3053/T=5547;C=879/T=3527;C=3932/T=9074	lod=168:517	TOLERATED	B	-	het	466
11	1	53153432	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	c.656A>G	p.K219R	non-syn	rs443751	0.32689	C=3053/T=5547;C=879/T=3527;C=3932/T=9074	lod=168:517	TOLERATED	B	-	hom	105
12	1	53153432	T	C	ENST00000486918	ENSG00000162377	53152508	53164038	-	SELRC1	-1	-	c.710A>G	p.K237R	non-syn	rs443751	0.32689	C=3053/T=5547;C=879/T=3527;C=3932/T=9074	lod=168:517	TOLERATED	B	-	het	466
13	1	53153432	T	C	ENST00000486918	ENSG00000162377	53152508	53164038	-	SELRC1	-1	-	c.710A>G	p.K237R	non-syn	rs443751	0.32689	C=3053/T=5547;C=879/T=3527;C=3932/T=9074	lod=168:517	TOLERATED	B	-	hom	105
14	1	53153622	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	c.466A>G	p.M156V	non-syn	NA	-	-	lod=212:542	TOLERATED	P	-	het	1
15	1	53153622	T	C	ENST00000486918	ENSG00000162377	53152508	53164038	-	SELRC1	-1	-	c.520A>G	p.M174V	non-syn	NA	-	-	lod=212:542	TOLERATED	P	-	het	1
16	1	53158503	C	T	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	c.143G>A	p.R48Q	non-syn	rs12134752	0.00388	T=29/C=8571;T=4/C=4402;T=33/C=12973	lod=308:582	TOLERATED	B	-	het	9
17	1	53158503	C	T	ENST00000486918	ENSG00000162377	53152508	53164038	-	SELRC1	-1	-	c.197G>A	p.R66Q	non-syn	rs12134752	0.00388	T=29/C=8571;T=4/C=4402;T=33/C=12973	lod=308:582	TOLERATED	B	-	het	9
18	1	53158521	T	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	c.125A>G	p.D42G	non-syn	NA	-	-	lod=308:582	DAMAGING	D	-	het	1
19	1	53158521	T	C	ENST00000486918	ENSG00000162377	53152508	53164038	-	SELRC1	-1	-	c.179A>G	p.D60G	non-syn	NA	-	-	lod=308:582	DAMAGING	D	-	het	1
20	1	53158524	A	C	ENST00000371538	ENSG00000162377	53152508	53164038	ENSP00000360593	SELRC1	-1	SELR1_HUMAN	c.122T>G	p.V41G	non-syn	rs200725979	-	-	lod=308:582	TOLERATED	B	-	het	308

** 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 SELRC1 1:53152508..53164038 region Gbrowse