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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 ENSG00000027001:

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
ENSG00000027001	MIPEP	1	12	0	ENSG00000027001	ENST00000464194		mitochondrial intermediate peptidase [Source:HGNC Symbol;Acc:7104]	13	24304328	24463558	-1	q12.12	24304328	24330969	MIPEP	MIPEP-005	HGNC Symbol	HGNC transcript name	5	39.76	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4285	7104	MIPEP		27513

MSeqDR Master Exome Data Set M1: 87 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	13	24304531	C	T	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	c.2098G>A	p.D700N	non-syn	NA	-	-	lod=138:496	TOLERATED	B	-	het	1
2	13	24304531	C	T	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	-	-	3'_UTR	NA	-	-	lod=138:496	TOLERATED	B	-	het	1
3	13	24304531	C	T	ENST00000464194	ENSG00000027001	24304328	24463558	-	MIPEP	-1	-	c.340G>A	p.D114N	non-syn	NA	-	-	lod=138:496	TOLERATED	B	-	het	1
4	13	24330737	C	T	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	c.1991G>A	p.R664H	non-syn	NA	-	-	lod=194:532	DAMAGING	D	-	het	1
5	13	24330737	C	T	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	c.184G>A	p.A62T	non-syn	NA	-	-	lod=194:532	DAMAGING	D	-	het	1
6	13	24330737	C	T	ENST00000464194	ENSG00000027001	24304328	24463558	-	MIPEP	-1	-	c.233G>A	p.R78H	non-syn	NA	-	-	lod=194:532	DAMAGING	D	-	het	1
7	13	24330743	C	T	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	c.1985G>A	p.R662H	non-syn	rs79151541	-	T=0/C=8600;T=26/C=4380;T=26/C=12980	lod=194:532	DAMAGING	D	-	het	3
8	13	24330743	C	T	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	c.178G>A	p.A60T	non-syn	rs79151541	-	T=0/C=8600;T=26/C=4380;T=26/C=12980	lod=194:532	DAMAGING	D	-	het	3
9	13	24330743	C	T	ENST00000464194	ENSG00000027001	24304328	24463558	-	MIPEP	-1	-	c.227G>A	p.R76H	non-syn	rs79151541	-	T=0/C=8600;T=26/C=4380;T=26/C=12980	lod=194:532	DAMAGING	D	-	het	3
10	13	24330751	G	A	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	c.1977C>T	p.A659A	syn	rs73158528	0.015	A=67/G=8533;A=42/G=4364;A=109/G=12897	lod=194:532	-	-	-	het	14
11	13	24330751	G	A	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	c.170C>T	p.P57L	non-syn	rs73158528	0.015	A=67/G=8533;A=42/G=4364;A=109/G=12897	lod=194:532	-	-	-	het	14
12	13	24330751	G	A	ENST00000464194	ENSG00000027001	24304328	24463558	-	MIPEP	-1	-	c.219C>T	p.A73A	syn	rs73158528	0.015	A=67/G=8533;A=42/G=4364;A=109/G=12897	lod=194:532	-	-	-	het	14
13	13	24330768	G	A	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	-	-	-11bp 3'_splice_site	rs143190138	0.0015	A=0/G=8600;A=25/G=4381;A=25/G=12981	-	-	-	-	het	3
14	13	24330768	G	A	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	-	-	-11bp 3'_splice_site	rs143190138	0.0015	A=0/G=8600;A=25/G=4381;A=25/G=12981	-	-	-	-	het	3
15	13	24330768	G	A	ENST00000464194	ENSG00000027001	24304328	24463558	-	MIPEP	-1	-	c.202C>T	p.L68F	non-syn	rs143190138	0.0015	A=0/G=8600;A=25/G=4381;A=25/G=12981	-	-	-	-	het	3
16	13	24330786	C	T	ENST00000464194	ENSG00000027001	24304328	24463558	-	MIPEP	-1	-	c.184G>A	p.E62K	non-syn	rs147499848	0.00193	T=58/C=8542;T=3/C=4403;T=61/C=12945	-	-	-	-	het	8
17	13	24334215	T	G	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	-	-	+20bp 5'_splice_site	rs11620036	0.23641	G=2413/T=6187;G=468/T=3938;G=2881/T=10125	-	-	-	-	het	338
18	13	24334215	T	G	ENST00000382172	ENSG00000027001	24304328	24463558	ENSP00000371607	MIPEP	-1	MIPEP_HUMAN	-	-	+20bp 5'_splice_site	rs11620036	0.23641	G=2413/T=6187;G=468/T=3938;G=2881/T=10125	-	-	-	-	hom	56
19	13	24334215	T	G	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	-	-	+20bp 5'_splice_site	rs11620036	0.23641	G=2413/T=6187;G=468/T=3938;G=2881/T=10125	-	-	-	-	het	338
20	13	24334215	T	G	ENST00000433710	ENSG00000027001	24304328	24463558	ENSP00000397404	MIPEP	-1	-	-	-	+20bp 5'_splice_site	rs11620036	0.23641	G=2413/T=6187;G=468/T=3938;G=2881/T=10125	-	-	-	-	hom	56

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding MIPEP 13:24304328..24463558 region Gbrowse