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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 ENSG00000175110:

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
ENSG00000175110	MRPS22	1	18	15	ENSG00000175110	ENST00000495075	ENSP00000418008	mitochondrial ribosomal protein S22 [Source:HGNC Symbol;Acc:14508]	3	138724648	139076065	1	q23	138724648	139075888	MRPS22	MRPS22-001	HGNC Symbol	HGNC transcript name	14	42.84	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	56945	14508	MRPS22		27517

MSeqDR Master Exome Data Set M1: 129 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	3	138724726	C	G	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs147495715	0.0036	-	-	DAMAGING	-	-	het	4
2	3	138724726	C	G	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs147495715	0.0036	-	-	DAMAGING	-	-	hom	2
3	3	138724753	C	G	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs201305464	-	G=1/C=3181;G=31/C=1353;G=32/C=4534	-	TOLERATED	-	-	het	3
4	3	138724757	C	G	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs11924188	0.7216	G=2443/C=739;G=701/C=683;G=3144/C=1422	-	-	-	-	hom	543
5	3	138724757	C	G	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs11924188	0.7216	G=2443/C=739;G=701/C=683;G=3144/C=1422	-	-	-	-	het	341
6	3	138724858	T	C	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs114330403	0.0077	C=97/T=3083;C=12/T=1372;C=109/T=4455	-	DAMAGING	-	-	het	52
7	3	138724858	T	C	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	-	-	5'_UTR	rs114330403	0.0077	C=97/T=3083;C=12/T=1372;C=109/T=4455	-	DAMAGING	-	-	hom	2
8	3	138881931	G	A	ENST00000495225	ENSG00000175110	138724648	139076065	ENSP00000417104	MRPS22	1	-	-	-	5'_UTR	rs76877408	0.0314	-	-	-	-	-	het	1
9	3	139062874	G	A	ENST00000310776	ENSG00000175110	138724648	139076065	ENSP00000310785	MRPS22	1	RT22_HUMAN	c.6G>A	p.A2A	syn	rs144902770	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	-	-	-	het	3
10	3	139062874	G	A	ENST00000465056	ENSG00000175110	138724648	139076065	ENSP00000418233	MRPS22	1	-	c.6G>A	p.A2A	syn	rs144902770	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	-	-	-	het	3
11	3	139062874	G	A	ENST00000480938	ENSG00000175110	138724648	139076065	-	MRPS22	1	-	c.6G>A	p.A2A	syn	rs144902770	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	-	-	-	het	3
12	3	139062874	G	A	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	c.6G>A	p.A2A	syn	rs144902770	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	-	-	-	het	3
13	3	139062874	G	A	ENST00000498505	ENSG00000175110	138724648	139076065	ENSP00000420482	MRPS22	1	-	c.6G>A	p.A2A	syn	rs144902770	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	-	-	-	het	3
14	3	139062895	G	C	ENST00000310776	ENSG00000175110	138724648	139076065	ENSP00000310785	MRPS22	1	RT22_HUMAN	c.27G>C	p.L9F	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	TOLERATED	B	-	het	1
15	3	139062895	G	C	ENST00000465056	ENSG00000175110	138724648	139076065	ENSP00000418233	MRPS22	1	-	c.27G>C	p.L9F	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	TOLERATED	B	-	het	1
16	3	139062895	G	C	ENST00000465373	ENSG00000175110	138724648	139076065	ENSP00000419920	MRPS22	1	-	c.15G>C	p.L5F	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	TOLERATED	B	-	het	1
17	3	139062895	G	C	ENST00000466690	ENSG00000175110	138724648	139076065	ENSP00000419737	MRPS22	1	-	c.13G>C	p.A5P	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	TOLERATED	B	-	het	1
18	3	139062895	G	C	ENST00000480938	ENSG00000175110	138724648	139076065	-	MRPS22	1	-	c.27G>C	p.L9F	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	TOLERATED	B	-	het	1
19	3	139062895	G	C	ENST00000495075	ENSG00000175110	138724648	139076065	ENSP00000418008	MRPS22	1	RT22_HUMAN	c.27G>C	p.L9F	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	TOLERATED	B	-	het	1
20	3	139062895	G	C	ENST00000498505	ENSG00000175110	138724648	139076065	ENSP00000420482	MRPS22	1	-	c.27G>C	p.L9F	non-syn	rs148997212	-	C=0/G=8600;C=24/G=4382;C=24/G=12982	-	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 MRPS22 3:138724648..139076065 region Gbrowse