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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 ATP5D:

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
ENSG00000099624	ATP5D	1	4	0	ENSG00000099624	ENST00000215375	ENSP00000215375	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit [Source:HGNC Symbol;Acc:837]	19	1241749	1244824	1	p13.3	1241749	1244824	ATP5D	ATP5D-001	HGNC Symbol	HGNC transcript name	8	62.94	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	513	837	ATP5D	NM_001687	27526

MSeqDR Master Exome Data Set M1: 118 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	19	1241778	C	T	ENST00000215375	ENSG00000099624	1241749	1244824	ENSP00000215375	ATP5D	1	ATPD_HUMAN	-	-	5'_UTR	NA	-	-	lod=60:407	-	-	-	hom	1
2	19	1241778	C	T	ENST00000215375	ENSG00000099624	1241749	1244824	ENSP00000215375	ATP5D	1	ATPD_HUMAN	-	-	5'_UTR	NA	-	-	lod=60:407	-	-	-	het	3
3	19	1241778	C	T	ENST00000395633	ENSG00000099624	1241749	1244824	ENSP00000378995	ATP5D	1	ATPD_HUMAN	-	-	5'_UTR	NA	-	-	lod=60:407	-	-	-	hom	1
4	19	1241778	C	T	ENST00000395633	ENSG00000099624	1241749	1244824	ENSP00000378995	ATP5D	1	ATPD_HUMAN	-	-	5'_UTR	NA	-	-	lod=60:407	-	-	-	het	3
5	19	1241778	C	T	ENST00000590265	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.10C>T	p.P4S	non-syn	NA	-	-	lod=60:407	-	-	-	hom	1
6	19	1241778	C	T	ENST00000590265	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.10C>T	p.P4S	non-syn	NA	-	-	lod=60:407	-	-	-	het	3
7	19	1241778	C	T	ENST00000592624	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.12C>T	p.A4A	syn	NA	-	-	lod=60:407	-	-	-	hom	1
8	19	1241778	C	T	ENST00000592624	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.12C>T	p.A4A	syn	NA	-	-	lod=60:407	-	-	-	het	3
9	19	1241874	C	T	ENST00000215375	ENSG00000099624	1241749	1244824	ENSP00000215375	ATP5D	1	ATPD_HUMAN	c.25C>T	p.R9C	non-syn	NA	-	-	lod=73:428	DAMAGING	NA	-	het	1
10	19	1241874	C	T	ENST00000395633	ENSG00000099624	1241749	1244824	ENSP00000378995	ATP5D	1	ATPD_HUMAN	c.25C>T	p.R9C	non-syn	NA	-	-	lod=73:428	DAMAGING	NA	-	het	1
11	19	1241874	C	T	ENST00000588538	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.59C>T	p.P20L	non-syn	NA	-	-	lod=73:428	DAMAGING	NA	-	het	1
12	19	1241874	C	T	ENST00000590265	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.106C>T	p.R36C	non-syn	NA	-	-	lod=73:428	DAMAGING	NA	-	het	1
13	19	1241874	C	T	ENST00000591660	ENSG00000099624	1241749	1244824	ENSP00000464863	ATP5D	1	ATPD_HUMAN	c.25C>T	p.R9C	non-syn	NA	-	-	lod=73:428	DAMAGING	NA	-	het	1
14	19	1241874	C	T	ENST00000592624	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.108C>T	p.A36A	syn	NA	-	-	lod=73:428	DAMAGING	NA	-	het	1
15	19	1241961	A	G	ENST00000215375	ENSG00000099624	1241749	1244824	ENSP00000215375	ATP5D	1	ATPD_HUMAN	c.112A>G	p.M38V	non-syn	rs199675494	-	G=1/A=7993;G=0/A=4000;G=1/A=11993	lod=105:467	DAMAGING	D	-	het	4
16	19	1241961	A	G	ENST00000395633	ENSG00000099624	1241749	1244824	ENSP00000378995	ATP5D	1	ATPD_HUMAN	c.112A>G	p.M38V	non-syn	rs199675494	-	G=1/A=7993;G=0/A=4000;G=1/A=11993	lod=105:467	DAMAGING	D	-	het	4
17	19	1241961	A	G	ENST00000588538	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.146A>G	p.D49G	non-syn	rs199675494	-	G=1/A=7993;G=0/A=4000;G=1/A=11993	lod=105:467	DAMAGING	D	-	het	4
18	19	1241961	A	G	ENST00000590265	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.193A>G	p.M65V	non-syn	rs199675494	-	G=1/A=7993;G=0/A=4000;G=1/A=11993	lod=105:467	DAMAGING	D	-	het	4
19	19	1241961	A	G	ENST00000591660	ENSG00000099624	1241749	1244824	ENSP00000464863	ATP5D	1	ATPD_HUMAN	c.112A>G	p.M38V	non-syn	rs199675494	-	G=1/A=7993;G=0/A=4000;G=1/A=11993	lod=105:467	DAMAGING	D	-	het	4
20	19	1241961	A	G	ENST00000592624	ENSG00000099624	1241749	1244824	-	ATP5D	1	-	c.195A>G	p.R65R	syn	rs199675494	-	G=1/A=7993;G=0/A=4000;G=1/A=11993	lod=105:467	DAMAGING	D	-	het	4

** 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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Select a dataset from the above drop-down list,
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and click "Export" button to save as csv.

Transcripts and variants in the surrounding ATP5D 19:1241749..1244824 region Gbrowse