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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 ATP5C1:

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
ENSG00000165629	ATP5C1	1	0	0	ENSG00000165629	ENST00000356708	ENSP00000349142	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 [Source:HGNC Symbol;Acc:833]	10	7830092	7849778	1	p14	7830092	7849778	ATP5C1	ATP5C1-001	HGNC Symbol	HGNC transcript name	11	40.13	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	509	833	ATP5C1	NM_001001973	27525

MSeqDR Master Exome Data Set M1: 82 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	10	7830101	C	T	ENST00000356708	ENSG00000165629	7830092	7849778	ENSP00000349142	ATP5C1	1	ATPG_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	10	7830235	G	A	ENST00000335698	ENSG00000165629	7830092	7849778	ENSP00000338568	ATP5C1	1	ATPG_HUMAN	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
3	10	7830235	G	A	ENST00000356708	ENSG00000165629	7830092	7849778	ENSP00000349142	ATP5C1	1	ATPG_HUMAN	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
4	10	7830235	G	A	ENST00000460362	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
5	10	7830235	G	A	ENST00000460820	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
6	10	7830235	G	A	ENST00000462760	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
7	10	7830235	G	A	ENST00000465936	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
8	10	7830235	G	A	ENST00000472202	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
9	10	7830235	G	A	ENST00000493053	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
10	10	7830235	G	A	ENST00000541227	ENSG00000165629	7830092	7849778	ENSP00000437565	ATP5C1	1	-	-	-	+9bp 5'_splice_site	rs192483778	0.004	A=31/G=8569;A=3/G=4403;A=34/G=12972	-	-	-	-	het	4
11	10	7838208	A	G	ENST00000462760	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.230A>G	p.H77R	non-syn	rs1244418	0.33146	-	-	-	-	-	het	390
12	10	7838208	A	G	ENST00000462760	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.230A>G	p.H77R	non-syn	rs1244418	0.33146	-	-	-	-	-	hom	103
13	10	7838222	C	G	ENST00000462760	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.244C>G	p.Q82E	non-syn	rs188599930	0.0084	-	-	-	-	-	het	31
14	10	7838783	G	A	ENST00000460362	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.339G>A	p.S113S	syn	rs1244420	0.3264	-	-	-	-	-	hom	1
15	10	7838783	G	A	ENST00000460362	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.339G>A	p.S113S	syn	rs1244420	0.3264	-	-	-	-	-	het	10
16	10	7838838	T	C	ENST00000460362	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.394T>C	p.C132R	non-syn	rs1244421	0.9967	-	-	-	-	-	hom	116
17	10	7838847	A	G	ENST00000460362	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.403A>G	p.I135V	non-syn	NA	-	-	-	-	-	-	het	2
18	10	7839111	C	T	ENST00000335698	ENSG00000165629	7830092	7849778	ENSP00000338568	ATP5C1	1	ATPG_HUMAN	c.193C>T	p.P65S	non-syn	rs199901078	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=697:669	TOLERATED	B	-	het	1
19	10	7839111	C	T	ENST00000356708	ENSG00000165629	7830092	7849778	ENSP00000349142	ATP5C1	1	ATPG_HUMAN	c.193C>T	p.P65S	non-syn	rs199901078	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=697:669	TOLERATED	B	-	het	1
20	10	7839111	C	T	ENST00000460820	ENSG00000165629	7830092	7849778	-	ATP5C1	1	-	c.217C>T	p.P73S	non-syn	rs199901078	-	T=2/C=8598;T=0/C=4406;T=2/C=13004	lod=697:669	TOLERATED	B	-	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 ATP5C1 10:7830092..7849778 region Gbrowse