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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 ATP5S:

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
ENSG00000125375	ATP5S	1	0	0	ENSG00000125375	ENST00000554438		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B) [Source:HGNC Symbol;Acc:18799]	14	50779044	50802276	1	q21.3	50779044	50793777	ATP5S	ATP5S-010	HGNC Symbol	HGNC transcript name	11	40.64	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	27109	18799	ATP5S		27520

MSeqDR Master Exome Data Set M1: 137 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	14	50779065	G	T	ENST00000245448	ENSG00000125375	50779044	50802276	ENSP00000245448	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
2	14	50779065	G	T	ENST00000554438	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.22G>T	p.A8S	non-syn	NA	-	-	-	-	-	-	het	3
3	14	50779065	G	T	ENST00000555939	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.13G>T	p.A5S	non-syn	NA	-	-	-	-	-	-	het	3
4	14	50779065	G	T	ENST00000557421	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.18G>T	p.T6T	syn	NA	-	-	-	-	-	-	het	3
5	14	50779066	C	-G	ENST00000245448	ENSG00000125375	50779044	50802276	ENSP00000245448	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	14	50779066	C	-G	ENST00000554438	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.24_24del	p.A8NA	non-syn	NA	-	-	-	-	-	-	het	1
7	14	50779066	C	-G	ENST00000555939	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.15_15del	p.A5NA	non-syn	NA	-	-	-	-	-	-	het	1
8	14	50779066	C	-G	ENST00000557421	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.20_20del	p.R7NA	non-syn	NA	-	-	-	-	-	-	het	1
9	14	50779081	G	+CTCCCTCCCTCC	ENST00000245448	ENSG00000125375	50779044	50802276	ENSP00000245448	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
10	14	50779081	G	+CTCCCTCCCTCC	ENST00000554438	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.38_39insCTCCCTCCCTCC	p.R13NA	non-syn	NA	-	-	-	-	-	-	het	1
11	14	50779081	G	+CTCCCTCCCTCC	ENST00000555939	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.29_30insCTCCCTCCCTCC	p.R10NA	non-syn	NA	-	-	-	-	-	-	het	1
12	14	50779081	G	+CTCCCTCCCTCC	ENST00000557421	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	c.34_35insCTCCCTCCCTCC	p.A12NA	non-syn	NA	-	-	-	-	-	-	het	1
13	14	50779125	G	T	ENST00000245448	ENSG00000125375	50779044	50802276	ENSP00000245448	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	rs185621412	0.0099	-	-	-	-	-	het	7
14	14	50779125	G	T	ENST00000426751	ENSG00000125375	50779044	50802276	ENSP00000389246	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	rs185621412	0.0099	-	-	-	-	-	het	7
15	14	50779125	G	T	ENST00000554438	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	-	-	+18bp 5'_splice_site	rs185621412	0.0099	-	-	-	-	-	het	7
16	14	50779125	G	T	ENST00000555939	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	-	-	+18bp 5'_splice_site	rs185621412	0.0099	-	-	-	-	-	het	7
17	14	50779125	G	T	ENST00000557421	ENSG00000125375	50779044	50802276	-	ATP5S	1	-	-	-	+18bp 5'_splice_site	rs185621412	0.0099	-	-	-	-	-	het	7
18	14	50779201	C	G	ENST00000245448	ENSG00000125375	50779044	50802276	ENSP00000245448	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	rs191158453	0.0032	-	-	-	-	-	het	4
19	14	50779201	C	G	ENST00000426751	ENSG00000125375	50779044	50802276	ENSP00000389246	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	rs191158453	0.0032	-	-	-	-	-	het	4
20	14	50779229	C	T	ENST00000245448	ENSG00000125375	50779044	50802276	ENSP00000245448	ATP5S	1	ATP5S_HUMAN	-	-	5'_UTR	rs12892575	0.5296	-	-	-	-	-	het	93

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Transcripts and variants in the surrounding ATP5S 14:50779044..50802276 region Gbrowse