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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 IBA57:

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
ENSG00000181873	IBA57	1	165	2	ENSG00000181873	ENST00000366711	ENSP00000355672	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:27302]	1	228353516	228369958	1	q42.13	228353516	228369958	IBA57	IBA57-001	HGNC Symbol	HGNC transcript name	3	54.59	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	200205	27302	IBA57	NM_001010867	27511

MSeqDR Master Exome Data Set M1: 288 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	228353528	C	T	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.11C>T	p.A4V	non-syn	rs199781237	-	-	-	TOLERATED	B	-	het	2
2	1	228353651	G	C	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.134G>C	p.G45A	non-syn	rs55873785	0.4162	-	-	TOLERATED	B	-	het	317
3	1	228353651	G	C	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.134G>C	p.G45A	non-syn	rs55873785	0.4162	-	-	TOLERATED	B	-	hom	111
4	1	228353733	G	T	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.216G>T	p.G72G	syn	NA	-	-	lod=134:493	-	-	-	het	1
5	1	228353781	C	G	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.264C>G	p.A88A	syn	rs13375853	0.0328	G=4/C=7308;G=38/C=3580;G=42/C=10888	-	-	-	-	het	6
6	1	228353781	C	G	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.264C>G	p.A88A	syn	rs13375853	0.0328	G=4/C=7308;G=38/C=3580;G=42/C=10888	-	-	-	-	hom	1
7	1	228358933	G	A	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.55G>A	p.V19I	non-syn	rs12130630	0.325	-	-	-	-	-	het	1
8	1	228359463	T	C	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.585T>C	p.C195C	syn	rs1934882	0.9854	-	-	-	-	-	hom	30
9	1	228359473	G	C	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.595G>C	p.A199P	non-syn	NA	-	-	-	-	-	-	het	1
10	1	228359541	G	A	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.663G>A	p.P221P	syn	rs1934881	0.9979	-	-	-	-	-	hom	14
11	1	228362306	G	A	ENST00000546123	ENSG00000181873	228353516	228369958	ENSP00000437347	IBA57	1	-	-	-	5'_UTR	rs74931164	0.104	-	-	-	-	-	hom	1
12	1	228362306	G	A	ENST00000546123	ENSG00000181873	228353516	228369958	ENSP00000437347	IBA57	1	-	-	-	5'_UTR	rs74931164	0.104	-	-	-	-	-	het	9
13	1	228362441	C	A	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.390C>A	p.S130R	non-syn	NA	-	-	-	DAMAGING	B	-	het	3
14	1	228362441	C	A	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.2390C>A	p.A797D	non-syn	NA	-	-	-	DAMAGING	B	-	het	3
15	1	228362441	C	A	ENST00000546123	ENSG00000181873	228353516	228369958	ENSP00000437347	IBA57	1	-	-	-	5'_UTR	NA	-	-	-	DAMAGING	B	-	het	3
16	1	228362513	C	T	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.462C>T	p.H154H	syn	rs148398789	-	T=0/C=8584;T=92/C=4300;T=92/C=12884	-	-	-	-	het	1
17	1	228362513	C	T	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.2462C>T	p.T821I	non-syn	rs148398789	-	T=0/C=8584;T=92/C=4300;T=92/C=12884	-	-	-	-	het	1
18	1	228362513	C	T	ENST00000546123	ENSG00000181873	228353516	228369958	ENSP00000437347	IBA57	1	-	-	-	5'_UTR	rs148398789	-	T=0/C=8584;T=92/C=4300;T=92/C=12884	-	-	-	-	het	1
19	1	228362650	C	T	ENST00000366711	ENSG00000181873	228353516	228369958	ENSP00000355672	IBA57	1	CAF17_HUMAN	c.599C>T	p.T200I	non-syn	rs149136930	-	T=12/C=8562;T=1/C=4387;T=13/C=12949	-	TOLERATED	B	-	het	1
20	1	228362650	C	T	ENST00000484749	ENSG00000181873	228353516	228369958	-	IBA57	1	-	c.2599C>T	p.P867S	non-syn	rs149136930	-	T=12/C=8562;T=1/C=4387;T=13/C=12949	-	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 IBA57 1:228353516..228369958 region Gbrowse