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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 ENSG00000183513:

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
ENSG00000183513	COA5	1	1	1	ENSG00000183513	ENST00000328709	ENSP00000330730	cytochrome c oxidase assembly factor 5 [Source:HGNC Symbol;Acc:33848]	2	99215773	99224978	-1	q11.2	99215773	99224955	COA5	COA5-001	HGNC Symbol	HGNC transcript name	5	42.89	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	493753	33848	COA5	NM_001008215	27508

MSeqDR Master Exome Data Set M1: 33 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	2	99215795	G	A	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	2	99215867	C	T	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs115514471	0.0227	-	-	-	-	-	het	1
3	2	99215883	A	G	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	2	99216158	G	A	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs75434845	0.01376	-	-	-	-	-	het	22
5	2	99216229	A	G	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	2	99216429	A	G	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs113434430	0.0201	-	-	-	-	-	het	2
7	2	99216531	A	G	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs11537554	0.26796	-	-	-	-	-	hom	47
8	2	99216531	A	G	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs11537554	0.26796	-	-	-	-	-	het	267
9	2	99216593	T	A	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs72823794	0.27079	-	-	-	-	-	het	268
10	2	99216593	T	A	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs72823794	0.27079	-	-	-	-	-	hom	49
11	2	99216607	A	G	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs187348477	0.00092	-	-	-	-	-	het	1
12	2	99216721	A	-C	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	2	99216838	A	T	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	rs113077225	0.0265	-	-	-	-	-	het	2
14	2	99216838	A	T	ENST00000483527	ENSG00000183513	99215773	99224978	-	COA5	-1	-	c.748T>A	p.S250T	non-syn	rs113077225	0.0265	-	-	-	-	-	het	2
15	2	99217212	G	C	ENST00000328709	ENSG00000183513	99215773	99224978	ENSP00000330730	COA5	-1	COA5_HUMAN	-	-	3'_UTR	NA	-	C=1/G=8599;C=1/G=4401;C=2/G=13000	-	-	-	-	het	13
16	2	99217212	G	C	ENST00000466848	ENSG00000183513	99215773	99224978	-	COA5	-1	-	c.205C>G	p.H69D	non-syn	NA	-	C=1/G=8599;C=1/G=4401;C=2/G=13000	-	-	-	-	het	13
17	2	99217212	G	C	ENST00000480666	ENSG00000183513	99215773	99224978	-	COA5	-1	-	c.728C>G	p.A243G	non-syn	NA	-	C=1/G=8599;C=1/G=4401;C=2/G=13000	-	-	-	-	het	13
18	2	99217212	G	C	ENST00000483527	ENSG00000183513	99215773	99224978	-	COA5	-1	-	c.374C>G	p.A125G	non-syn	NA	-	C=1/G=8599;C=1/G=4401;C=2/G=13000	-	-	-	-	het	13
19	2	99219071	T	C	ENST00000409997	ENSG00000183513	99215773	99224978	ENSP00000386934	COA5	-1	-	c.221A>G	p.*74W	non-syn	rs7585747	0.2454	-	-	TOLERATED	-	-	hom	5
20	2	99219071	T	C	ENST00000409997	ENSG00000183513	99215773	99224978	ENSP00000386934	COA5	-1	-	c.221A>G	p.*74W	non-syn	rs7585747	0.2454	-	-	TOLERATED	-	-	het	13

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding COA5 2:99215773..99224978 region Gbrowse