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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 DNM2:

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
ENSG00000079805	DNM2	1	0	47	ENSG00000079805	ENST00000591118		dynamin 2 [Source:HGNC Symbol;Acc:2974]	19	10828755	10944164	1	p13.2	10892050	10893789	DNM2	DNM2-017	HGNC Symbol	HGNC transcript name	23	53.07	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	1785	2974	DNM2		27526

MSeqDR Master Exome Data Set M1: 371 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	19	10828962	A	G	ENST00000314646	ENSG00000079805	10828755	10944164	ENSP00000313164	DNM2	1	-	c.44A>G	p.K15R	non-syn	NA	-	-	lod=1059:714	TOLERATED	B	-	het	2
2	19	10828962	A	G	ENST00000355667	ENSG00000079805	10828755	10944164	ENSP00000347890	DNM2	1	DYN2_HUMAN	c.44A>G	p.K15R	non-syn	NA	-	-	lod=1059:714	TOLERATED	B	-	het	2
3	19	10828962	A	G	ENST00000359692	ENSG00000079805	10828755	10944164	ENSP00000352721	DNM2	1	DYN2_HUMAN	c.44A>G	p.K15R	non-syn	NA	-	-	lod=1059:714	TOLERATED	B	-	het	2
4	19	10828962	A	G	ENST00000389253	ENSG00000079805	10828755	10944164	ENSP00000373905	DNM2	1	-	c.44A>G	p.K15R	non-syn	NA	-	-	lod=1059:714	TOLERATED	B	-	het	2
5	19	10828962	A	G	ENST00000408974	ENSG00000079805	10828755	10944164	ENSP00000386192	DNM2	1	DYN2_HUMAN	c.44A>G	p.K15R	non-syn	NA	-	-	lod=1059:714	TOLERATED	B	-	het	2
6	19	10828962	A	G	ENST00000585892	ENSG00000079805	10828755	10944164	ENSP00000468734	DNM2	1	-	c.44A>G	p.K15R	non-syn	NA	-	-	lod=1059:714	TOLERATED	B	-	het	2
7	19	10866142	C	+T	ENST00000588976	ENSG00000079805	10828755	10944164	-	DNM2	1	-	c.346_347insT	p.L116NA	non-syn	NA	-	-	-	-	-	-	het	1
8	19	10870339	C	T	ENST00000588976	ENSG00000079805	10828755	10944164	-	DNM2	1	-	c.398C>T	p.P133L	non-syn	NA	-	-	-	-	-	-	het	3
9	19	10870372	C	+CGGA	ENST00000588976	ENSG00000079805	10828755	10944164	-	DNM2	1	-	c.431_432insCGGA	p.S144NA	non-syn	NA	-	-	-	-	-	-	het	1
10	19	10870414	G	C	ENST00000314646	ENSG00000079805	10828755	10944164	ENSP00000313164	DNM2	1	-	c.162G>C	p.R54R	syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
11	19	10870414	G	C	ENST00000355667	ENSG00000079805	10828755	10944164	ENSP00000347890	DNM2	1	DYN2_HUMAN	c.162G>C	p.R54R	syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
12	19	10870414	G	C	ENST00000359692	ENSG00000079805	10828755	10944164	ENSP00000352721	DNM2	1	DYN2_HUMAN	c.162G>C	p.R54R	syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
13	19	10870414	G	C	ENST00000389253	ENSG00000079805	10828755	10944164	ENSP00000373905	DNM2	1	-	c.162G>C	p.R54R	syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
14	19	10870414	G	C	ENST00000408974	ENSG00000079805	10828755	10944164	ENSP00000386192	DNM2	1	DYN2_HUMAN	c.162G>C	p.R54R	syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
15	19	10870414	G	C	ENST00000585892	ENSG00000079805	10828755	10944164	ENSP00000468734	DNM2	1	-	c.162G>C	p.R54R	syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
16	19	10870414	G	C	ENST00000586939	ENSG00000079805	10828755	10944164	ENSP00000467430	DNM2	1	-	-	-	5'_UTR	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
17	19	10870414	G	C	ENST00000588976	ENSG00000079805	10828755	10944164	-	DNM2	1	-	c.473G>C	p.G158A	non-syn	NA	-	-	lod=306:581	DAMAGING	-	-	het	3
18	19	10870493	A	G	ENST00000314646	ENSG00000079805	10828755	10944164	ENSP00000313164	DNM2	1	-	-	-	+6bp 5'_splice_site	rs113192269	0.0176	G=3/A=8597;G=71/A=4335;G=74/A=12932	-	-	-	-	het	12
19	19	10870493	A	G	ENST00000355667	ENSG00000079805	10828755	10944164	ENSP00000347890	DNM2	1	DYN2_HUMAN	-	-	+6bp 5'_splice_site	rs113192269	0.0176	G=3/A=8597;G=71/A=4335;G=74/A=12932	-	-	-	-	het	12
20	19	10870493	A	G	ENST00000359692	ENSG00000079805	10828755	10944164	ENSP00000352721	DNM2	1	DYN2_HUMAN	-	-	+6bp 5'_splice_site	rs113192269	0.0176	G=3/A=8597;G=71/A=4335;G=74/A=12932	-	-	-	-	het	12

** 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,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding DNM2 19:10828755..10944164 region Gbrowse