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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 GDAP1:

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
ENSG00000104381	GDAP1	1	0	26	ENSG00000104381	ENST00000521096		ganglioside induced differentiation associated protein 1 [Source:HGNC Symbol;Acc:15968]	8	75233365	75401107	1	q21.11	75233365	75276525	GDAP1	GDAP1-007	HGNC Symbol	HGNC transcript name	8	37.99	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	54332	15968	GDAP1		27523

MSeqDR Master Exome Data Set M1: 100 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	8	75233790	C	T	ENST00000520797	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.42C>T	p.S14S	syn	rs114737995	0.0397	-	-	-	-	-	het	2
2	8	75233790	C	T	ENST00000520797	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.42C>T	p.S14S	syn	rs114737995	0.0397	-	-	-	-	-	hom	1
3	8	75262644	G	-GGA	ENST00000220822	ENSG00000104381	75233365	75401107	ENSP00000220822	GDAP1	1	GDAP1_HUMAN	-	-	5'_UTR	rs201803887	-	-	-	-	-	-	het	2
4	8	75262798	G	C	ENST00000220822	ENSG00000104381	75233365	75401107	ENSP00000220822	GDAP1	1	GDAP1_HUMAN	c.102G>C	p.S34S	syn	rs7828201	1	-	lod=275:569	-	-	-	hom	1067
5	8	75262798	G	C	ENST00000522568	ENSG00000104381	75233365	75401107	ENSP00000430136	GDAP1	1	-	c.102G>C	p.S34S	syn	rs7828201	1	-	lod=275:569	-	-	-	hom	1067
6	8	75262798	G	C	ENST00000523640	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.130G>C	p.V44L	non-syn	rs7828201	1	-	lod=275:569	-	-	-	hom	1067
7	8	75262798	G	C	ENST00000524366	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.120G>C	p.S40S	syn	rs7828201	1	-	lod=275:569	-	-	-	hom	1067
8	8	75262825	C	G	ENST00000220822	ENSG00000104381	75233365	75401107	ENSP00000220822	GDAP1	1	GDAP1_HUMAN	-	-	+12bp 5'_splice_site	rs202059380	-	G=0/C=8600;G=44/C=4362;G=44/C=12962	-	-	-	-	het	1
9	8	75262825	C	G	ENST00000522568	ENSG00000104381	75233365	75401107	ENSP00000430136	GDAP1	1	-	-	-	+12bp 5'_splice_site	rs202059380	-	G=0/C=8600;G=44/C=4362;G=44/C=12962	-	-	-	-	het	1
10	8	75262825	C	G	ENST00000523640	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	-	-	+12bp 5'_splice_site	rs202059380	-	G=0/C=8600;G=44/C=4362;G=44/C=12962	-	-	-	-	het	1
11	8	75262825	C	G	ENST00000524366	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	-	-	+12bp 5'_splice_site	rs202059380	-	G=0/C=8600;G=44/C=4362;G=44/C=12962	-	-	-	-	het	1
12	8	75272460	G	A	ENST00000220822	ENSG00000104381	75233365	75401107	ENSP00000220822	GDAP1	1	GDAP1_HUMAN	c.399G>A	p.M133I	non-syn	rs139808557	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=103:464	DAMAGING	P	-	het	3
13	8	75272460	G	A	ENST00000434412	ENSG00000104381	75233365	75401107	ENSP00000417006	GDAP1	1	GDAP1_HUMAN	c.195G>A	p.M65I	non-syn	rs139808557	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=103:464	DAMAGING	P	-	het	3
14	8	75272460	G	A	ENST00000520797	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.164G>A	p.W55*	non-syn	rs139808557	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=103:464	DAMAGING	P	-	het	3
15	8	75272460	G	A	ENST00000521096	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.205G>A	p.G69R	non-syn	rs139808557	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=103:464	DAMAGING	P	-	het	3
16	8	75272460	G	A	ENST00000522568	ENSG00000104381	75233365	75401107	ENSP00000430136	GDAP1	1	-	-	-	3'_UTR	rs139808557	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=103:464	DAMAGING	P	-	het	3
17	8	75272460	G	A	ENST00000523640	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	c.234G>A	p.M78I	non-syn	rs139808557	-	A=1/G=8599;A=0/G=4406;A=1/G=13005	lod=103:464	DAMAGING	P	-	het	3
18	8	75274099	C	G	ENST00000220822	ENSG00000104381	75233365	75401107	ENSP00000220822	GDAP1	1	GDAP1_HUMAN	-	-	-20bp 3'_splice_site	rs73345392	0.1156	G=9/C=8591;G=626/C=3780;G=635/C=12371	-	-	-	-	het	8
19	8	75274099	C	G	ENST00000434412	ENSG00000104381	75233365	75401107	ENSP00000417006	GDAP1	1	GDAP1_HUMAN	-	-	-20bp 3'_splice_site	rs73345392	0.1156	G=9/C=8591;G=626/C=3780;G=635/C=12371	-	-	-	-	het	8
20	8	75274099	C	G	ENST00000520797	ENSG00000104381	75233365	75401107	-	GDAP1	1	-	-	-	-20bp 3'_splice_site	rs73345392	0.1156	G=9/C=8591;G=626/C=3780;G=635/C=12371	-	-	-	-	het	8

** 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 GDAP1 8:75233365..75401107 region Gbrowse