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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 ATPIF1:

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
ENSG00000130770	ATPIF1	1	0	0	ENSG00000130770	ENST00000497986	ENSP00000435579	ATPase inhibitory factor 1 [Source:HGNC Symbol;Acc:871]	1	28562620	28573417	1	p35.3	28562620	28564616	ATPIF1	ATPIF1-003	HGNC Symbol	HGNC transcript name	4	44.37	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	93974	871	ATPIF1	NM_178190	27511

MSeqDR Master Exome Data Set M1: 75 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	28562676	A	G	ENST00000335514	ENSG00000130770	28562620	28573417	ENSP00000335203	ATPIF1	1	ATIF1_HUMAN	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	het	348
2	1	28562676	A	G	ENST00000335514	ENSG00000130770	28562620	28573417	ENSP00000335203	ATPIF1	1	ATIF1_HUMAN	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	hom	93
3	1	28562676	A	G	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	het	348
4	1	28562676	A	G	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	hom	93
5	1	28562676	A	G	ENST00000468425	ENSG00000130770	28562620	28573417	ENSP00000435341	ATPIF1	1	-	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	het	348
6	1	28562676	A	G	ENST00000468425	ENSG00000130770	28562620	28573417	ENSP00000435341	ATPIF1	1	-	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	hom	93
7	1	28562676	A	G	ENST00000497986	ENSG00000130770	28562620	28573417	ENSP00000435579	ATPIF1	1	ATIF1_HUMAN	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	het	348
8	1	28562676	A	G	ENST00000497986	ENSG00000130770	28562620	28573417	ENSP00000435579	ATPIF1	1	ATIF1_HUMAN	-	-	5'_UTR	rs12154	0.5808	G=2578/A=6018;G=2650/A=1750;G=5228/A=7768	-	-	-	-	hom	93
9	1	28562711	T	G	ENST00000335514	ENSG00000130770	28562620	28573417	ENSP00000335203	ATPIF1	1	ATIF1_HUMAN	c.17T>G	p.L6W	non-syn	NA	-	C=0/T=8598;C=1/T=4401;C=1/T=12999	-	DAMAGING	B	-	het	2
10	1	28562711	T	G	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	c.17T>G	p.L6W	non-syn	NA	-	C=0/T=8598;C=1/T=4401;C=1/T=12999	-	DAMAGING	B	-	het	2
11	1	28562711	T	G	ENST00000468425	ENSG00000130770	28562620	28573417	ENSP00000435341	ATPIF1	1	-	c.17T>G	p.L6W	non-syn	NA	-	C=0/T=8598;C=1/T=4401;C=1/T=12999	-	DAMAGING	B	-	het	2
12	1	28562711	T	G	ENST00000497986	ENSG00000130770	28562620	28573417	ENSP00000435579	ATPIF1	1	ATIF1_HUMAN	c.17T>G	p.L6W	non-syn	NA	-	C=0/T=8598;C=1/T=4401;C=1/T=12999	-	DAMAGING	B	-	het	2
13	1	28562741	G	T	ENST00000335514	ENSG00000130770	28562620	28573417	ENSP00000335203	ATPIF1	1	ATIF1_HUMAN	c.47G>T	p.G16V	non-syn	rs146571336	-	T=3/G=8595;T=0/G=4404;T=3/G=12999	lod=19:284	DAMAGING	P	-	het	4
14	1	28562741	G	T	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	c.47G>T	p.G16V	non-syn	rs146571336	-	T=3/G=8595;T=0/G=4404;T=3/G=12999	lod=19:284	DAMAGING	P	-	het	4
15	1	28562741	G	T	ENST00000468425	ENSG00000130770	28562620	28573417	ENSP00000435341	ATPIF1	1	-	c.47G>T	p.G16V	non-syn	rs146571336	-	T=3/G=8595;T=0/G=4404;T=3/G=12999	lod=19:284	DAMAGING	P	-	het	4
16	1	28562741	G	T	ENST00000497986	ENSG00000130770	28562620	28573417	ENSP00000435579	ATPIF1	1	ATIF1_HUMAN	c.47G>T	p.G16V	non-syn	rs146571336	-	T=3/G=8595;T=0/G=4404;T=3/G=12999	lod=19:284	DAMAGING	P	-	het	4
17	1	28562984	A	C	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	1	28563008	G	T	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	-	-	3'_UTR	rs2232720	0.0317	T=255/G=8343;T=28/G=4376;T=283/G=12719	-	-	-	-	het	67
19	1	28563008	G	T	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	-	-	3'_UTR	rs2232720	0.0317	T=255/G=8343;T=28/G=4376;T=283/G=12719	-	-	-	-	hom	1
20	1	28563031	A	G	ENST00000465645	ENSG00000130770	28562620	28573417	ENSP00000437337	ATPIF1	1	ATIF1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** 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.

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Transcripts and variants in the surrounding ATPIF1 1:28562620..28573417 region Gbrowse