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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 COX18:

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
ENSG00000163626	COX18	1	0	0	ENSG00000163626	ENST00000295890	ENSP00000295890	COX18 cytochrome C oxidase assembly factor [Source:HGNC Symbol;Acc:26801]	4	73921797	73935472	-1	q13.3	73921797	73935458	COX18	COX18-001	HGNC Symbol	HGNC transcript name	5	41.16	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	285521	26801	COX18	NM_173827	27524

MSeqDR Master Exome Data Set M1: 82 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	4	73921962	A	C	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	4	73921962	A	C	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
3	4	73922048	T	C	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	4	73922048	T	C	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	4	73922165	C	T	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	4	73922165	C	T	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	4	73922274	A	G	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs181979179	0.0063	-	-	-	-	-	het	1
8	4	73922274	A	G	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs181979179	0.0063	-	-	-	-	-	het	1
9	4	73922295	C	G	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	4	73922295	C	G	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	4	73922351	G	A	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
12	4	73922351	G	A	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
13	4	73922549	A	C	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs16849151	0.3793	-	-	-	-	-	het	154
14	4	73922549	A	C	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs16849151	0.3793	-	-	-	-	-	hom	22
15	4	73922549	A	C	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs16849151	0.3793	-	-	-	-	-	het	154
16	4	73922549	A	C	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs16849151	0.3793	-	-	-	-	-	hom	22
17	4	73923058	A	G	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs7654986	0.9957	-	-	-	-	-	hom	408
18	4	73923058	A	G	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	rs7654986	0.9957	-	-	-	-	-	hom	408
19	4	73923068	G	A	ENST00000295890	ENSG00000163626	73921797	73935472	ENSP00000295890	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
20	4	73923068	G	A	ENST00000449739	ENSG00000163626	73921797	73935472	ENSP00000394583	COX18	-1	COX18_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding COX18 4:73921797..73935472 region Gbrowse