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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 ATPAF1:

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
ENSG00000123472	ATPAF1	1	0	0	ENSG00000123472	ENST00000576409	ENSP00000460964	ATP synthase mitochondrial F1 complex assembly factor 1 [Source:HGNC Symbol;Acc:18803]	1	47098409	47139539	-1	p33	47098409	47134126	ATPAF1	ATPAF1-001	HGNC Symbol	HGNC transcript name	14	41.86	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	64756	18803	ATPAF1		27511

MSeqDR Master Exome Data Set M1: 272 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	47098511	C	T	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	rs56238166	0.00091	-	lod=61:409	-	-	-	het	3
2	1	47098511	C	T	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	rs56238166	0.00091	-	lod=61:409	-	-	-	het	3
3	1	47098511	C	T	ENST00000576409	ENSG00000123472	47098409	47139539	ENSP00000460964	ATPAF1	-1	-	-	-	3'_UTR	rs56238166	0.00091	-	lod=61:409	-	-	-	het	3
4	1	47098751	A	T	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
5	1	47098751	A	T	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	1	47098751	A	T	ENST00000576409	ENSG00000123472	47098409	47139539	ENSP00000460964	ATPAF1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	1	47098810	G	T	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	1	47098810	G	T	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	1	47098810	G	T	ENST00000576409	ENSG00000123472	47098409	47139539	ENSP00000460964	ATPAF1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	1	47098823	C	T	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	rs11541308	0.02441	-	-	-	-	-	het	47
11	1	47098823	C	T	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	rs11541308	0.02441	-	-	-	-	-	hom	1
12	1	47098823	C	T	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	rs11541308	0.02441	-	-	-	-	-	het	47
13	1	47098823	C	T	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	rs11541308	0.02441	-	-	-	-	-	hom	1
14	1	47098823	C	T	ENST00000576409	ENSG00000123472	47098409	47139539	ENSP00000460964	ATPAF1	-1	-	-	-	3'_UTR	rs11541308	0.02441	-	-	-	-	-	het	47
15	1	47098823	C	T	ENST00000576409	ENSG00000123472	47098409	47139539	ENSP00000460964	ATPAF1	-1	-	-	-	3'_UTR	rs11541308	0.02441	-	-	-	-	-	hom	1
16	1	47098910	G	A	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	rs74072695	0.0186	-	-	-	-	-	het	1
17	1	47098910	G	A	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	rs74072695	0.0186	-	-	-	-	-	het	1
18	1	47098910	G	A	ENST00000576409	ENSG00000123472	47098409	47139539	ENSP00000460964	ATPAF1	-1	-	-	-	3'_UTR	rs74072695	0.0186	-	-	-	-	-	het	1
19	1	47098975	G	T	ENST00000371937	ENSG00000123472	47098409	47139539	ENSP00000361005	ATPAF1	-1	ATPF1_HUMAN	-	-	3'_UTR	rs144924402	0.0014	-	-	-	-	-	het	2
20	1	47098975	G	T	ENST00000574428	ENSG00000123472	47098409	47139539	ENSP00000459167	ATPAF1	-1	-	-	-	3'_UTR	rs144924402	0.0014	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding ATPAF1 1:47098409..47139539 region Gbrowse