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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 ENSG00000116688:

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
ENSG00000116688	MFN2	1	40	74	ENSG00000116688	ENST00000490079		mitofusin 2 [Source:HGNC Symbol;Acc:16877]	1	12040238	12073571	1	p36.22	12040356	12049291	MFN2	MFN2-003	HGNC Symbol	HGNC transcript name	6	51.12	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	9927	16877	MFN2		27511

MSeqDR Master Exome Data Set M1: 157 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	12040324	A	G	ENST00000444836	ENSG00000116688	12040238	12073571	ENSP00000416338	MFN2	1	MFN2_HUMAN	-	-	5'_UTR	rs2236054	0.402	-	-	-	-	-	het	1
2	1	12049209	G	T	ENST00000235329	ENSG00000116688	12040238	12073571	ENSP00000235329	MFN2	1	MFN2_HUMAN	-	-	-13bp 3'_splice_site	NA	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=416:614	-	-	-	het	1
3	1	12049209	G	T	ENST00000412236	ENSG00000116688	12040238	12073571	ENSP00000412023	MFN2	1	-	-	-	-13bp 3'_splice_site	NA	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=416:614	-	-	-	het	1
4	1	12049209	G	T	ENST00000444836	ENSG00000116688	12040238	12073571	ENSP00000416338	MFN2	1	MFN2_HUMAN	-	-	-13bp 3'_splice_site	NA	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=416:614	-	-	-	het	1
5	1	12049209	G	T	ENST00000484391	ENSG00000116688	12040238	12073571	-	MFN2	1	-	-	-	-13bp 3'_splice_site	NA	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=416:614	-	-	-	het	1
6	1	12049209	G	T	ENST00000490079	ENSG00000116688	12040238	12073571	-	MFN2	1	-	-	-	-13bp 3'_splice_site	NA	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=416:614	-	-	-	het	1
7	1	12049209	G	T	ENST00000497302	ENSG00000116688	12040238	12073571	-	MFN2	1	-	-	-	-13bp 3'_splice_site	NA	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	lod=416:614	-	-	-	het	1
8	1	12049245	G	A	ENST00000235329	ENSG00000116688	12040238	12073571	ENSP00000235329	MFN2	1	MFN2_HUMAN	c.20G>A	p.R7Q	non-syn	NA	-	-	lod=416:614	DAMAGING	P	-	het	1
9	1	12049245	G	A	ENST00000412236	ENSG00000116688	12040238	12073571	ENSP00000412023	MFN2	1	-	c.20G>A	p.R7Q	non-syn	NA	-	-	lod=416:614	DAMAGING	P	-	het	1
10	1	12049245	G	A	ENST00000444836	ENSG00000116688	12040238	12073571	ENSP00000416338	MFN2	1	MFN2_HUMAN	c.20G>A	p.R7Q	non-syn	NA	-	-	lod=416:614	DAMAGING	P	-	het	1
11	1	12049245	G	A	ENST00000484391	ENSG00000116688	12040238	12073571	-	MFN2	1	-	c.139G>A	p.D47N	non-syn	NA	-	-	lod=416:614	DAMAGING	P	-	het	1
12	1	12049245	G	A	ENST00000490079	ENSG00000116688	12040238	12073571	-	MFN2	1	-	c.399G>A	p.S133S	syn	NA	-	-	lod=416:614	DAMAGING	P	-	het	1
13	1	12049245	G	A	ENST00000497302	ENSG00000116688	12040238	12073571	-	MFN2	1	-	c.219G>A	p.S73S	syn	NA	-	-	lod=416:614	DAMAGING	P	-	het	1
14	1	12049283	C	T	ENST00000235329	ENSG00000116688	12040238	12073571	ENSP00000235329	MFN2	1	MFN2_HUMAN	c.58C>T	p.H20Y	non-syn	rs201715603	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=416:614	TOLERATED	B	-	het	1
15	1	12049283	C	T	ENST00000412236	ENSG00000116688	12040238	12073571	ENSP00000412023	MFN2	1	-	c.58C>T	p.H20Y	non-syn	rs201715603	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=416:614	TOLERATED	B	-	het	1
16	1	12049283	C	T	ENST00000444836	ENSG00000116688	12040238	12073571	ENSP00000416338	MFN2	1	MFN2_HUMAN	c.58C>T	p.H20Y	non-syn	rs201715603	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=416:614	TOLERATED	B	-	het	1
17	1	12049283	C	T	ENST00000484391	ENSG00000116688	12040238	12073571	-	MFN2	1	-	c.177C>T	p.D59D	syn	rs201715603	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=416:614	TOLERATED	B	-	het	1
18	1	12049283	C	T	ENST00000490079	ENSG00000116688	12040238	12073571	-	MFN2	1	-	c.437C>T	p.T146I	non-syn	rs201715603	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=416:614	TOLERATED	B	-	het	1
19	1	12049283	C	T	ENST00000497302	ENSG00000116688	12040238	12073571	-	MFN2	1	-	c.257C>T	p.T86I	non-syn	rs201715603	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	lod=416:614	TOLERATED	B	-	het	1
20	1	12049384	C	T	ENST00000235329	ENSG00000116688	12040238	12073571	ENSP00000235329	MFN2	1	MFN2_HUMAN	c.159C>T	p.S53S	syn	rs61733200	0.0701	T=3/C=8597;T=363/C=4043;T=366/C=12640	lod=482:629	-	-	-	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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Transcripts and variants in the surrounding MFN2 1:12040238..12073571 region Gbrowse