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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 ATPAF2:

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
ENSG00000171953	ATPAF2	1	44	14	ENSG00000171953	ENST00000584205	ENSP00000462899	ATP synthase mitochondrial F1 complex assembly factor 2 [Source:HGNC Symbol;Acc:18802]	17	17880723	17942523	-1	p11.2	17880723	17942482	ATPAF2	ATPAF2-020	HGNC Symbol	HGNC transcript name	13	49.63	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	91647	18802	ATPAF2		27509

MSeqDR Master Exome Data Set M1: 156 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	17	17880877	A	G	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	rs7219320	0.7701	G=2909/A=5475;G=2383/A=1729;G=5292/A=7204	-	-	-	-	het	358
2	17	17880877	A	G	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	rs7219320	0.7701	G=2909/A=5475;G=2383/A=1729;G=5292/A=7204	-	-	-	-	hom	162
3	17	17880884	G	A	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	NA	-	T=6/G=8392;T=0/G=4108;T=6/G=12500	-	-	-	-	het	1
4	17	17880884	G	T	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	rs184840189	-	T=6/G=8392;T=0/G=4108;T=6/G=12500	-	-	-	-	het	1
5	17	17880931	T	C	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
6	17	17880933	G	T	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	NA	-	T=1/G=8427;T=0/G=4202;T=1/G=12629	-	-	-	-	het	1
7	17	17881007	G	A	ENST00000584205	ENSG00000171953	17880723	17942523	ENSP00000462899	ATPAF2	-1	-	-	-	3'_UTR	rs34046558	0.0202	A=1/G=8335;A=142/G=3900;A=143/G=12235	lod=148:503	DAMAGING	-	-	het	10
8	17	17919082	C	T	ENST00000462733	ENSG00000171953	17880723	17942523	ENSP00000463920	ATPAF2	-1	-	-	-	3'_UTR	rs112889055	0.0207	-	-	-	-	-	het	1
9	17	17919238	C	T	ENST00000462733	ENSG00000171953	17880723	17942523	ENSP00000463920	ATPAF2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	17	17919397	C	T	ENST00000462733	ENSG00000171953	17880723	17942523	ENSP00000463920	ATPAF2	-1	-	-	-	3'_UTR	rs78556652	0.0752	T=32/C=8236;T=287/C=3603;T=319/C=11839	lod=52:391	DAMAGING	-	-	het	24
11	17	17919398	G	A	ENST00000462733	ENSG00000171953	17880723	17942523	ENSP00000463920	ATPAF2	-1	-	-	-	3'_UTR	rs187171866	0.00091	A=1/G=8273;A=0/G=3886;A=1/G=12159	-	-	-	-	het	2
12	17	17919414	G	A	ENST00000462733	ENSG00000171953	17880723	17942523	ENSP00000463920	ATPAF2	-1	-	-	-	3'_UTR	rs200381151	-	A=67/G=8235;A=28/G=3894;A=95/G=12129	lod=17:272	DAMAGING	-	-	het	21
13	17	17919414	G	A	ENST00000462733	ENSG00000171953	17880723	17942523	ENSP00000463920	ATPAF2	-1	-	-	-	3'_UTR	rs200381151	-	A=67/G=8235;A=28/G=3894;A=95/G=12129	lod=17:272	DAMAGING	-	-	hom	1
14	17	17921555	G	C	ENST00000474627	ENSG00000171953	17880723	17942523	ENSP00000417190	ATPAF2	-1	ATPF2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	17	17921698	G	A	ENST00000467560	ENSG00000171953	17880723	17942523	-	ATPAF2	-1	-	c.445C>T	p.R149W	non-syn	rs34673242	0.133	-	-	-	-	-	het	72
16	17	17921698	G	A	ENST00000467560	ENSG00000171953	17880723	17942523	-	ATPAF2	-1	-	c.445C>T	p.R149W	non-syn	rs34673242	0.133	-	-	-	-	-	hom	3
17	17	17921698	G	A	ENST00000474627	ENSG00000171953	17880723	17942523	ENSP00000417190	ATPAF2	-1	ATPF2_HUMAN	-	-	3'_UTR	rs34673242	0.133	-	-	-	-	-	het	72
18	17	17921698	G	A	ENST00000474627	ENSG00000171953	17880723	17942523	ENSP00000417190	ATPAF2	-1	ATPF2_HUMAN	-	-	3'_UTR	rs34673242	0.133	-	-	-	-	-	hom	3
19	17	17921698	G	A	ENST00000496852	ENSG00000171953	17880723	17942523	-	ATPAF2	-1	-	c.1540C>T	p.R514W	non-syn	rs34673242	0.133	-	-	-	-	-	het	72
20	17	17921698	G	A	ENST00000496852	ENSG00000171953	17880723	17942523	-	ATPAF2	-1	-	c.1540C>T	p.R514W	non-syn	rs34673242	0.133	-	-	-	-	-	hom	3

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Transcripts and variants in the surrounding ATPAF2 17:17880723..17942523 region Gbrowse