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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 ALG14:

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
ENSG00000172339	ALG14	0	0	1	ENSG00000172339	ENST00000370205	ENSP00000359224	ALG14, UDP-N-acetylglucosaminyltransferase subunit [Source:HGNC Symbol;Acc:28287]	1	95439963	95538501	-1	p21.3	95439963	95538501	ALG14	ALG14-001	HGNC Symbol	HGNC transcript name	3	40.5	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	199857	28287	ALG14	NM_144988	27511

MSeqDR Master Exome Data Set M1: 25 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	95448400	A	C	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	3'_UTR	rs149024884	0.0038	-	-	-	-	-	het	3
2	1	95448561	G	-T	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
3	1	95448578	T	C	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	3'_UTR	rs79206206	0.00271	-	-	-	-	-	het	4
4	1	95448619	C	T	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	3'_UTR	rs143040411	0.00185	T=6/C=8594;T=1/C=4405;T=7/C=12999	-	-	-	-	het	2
5	1	95448861	A	C	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	c.422T>G	p.V141G	non-syn	rs139005007	-	G=0/A=8600;G=1/A=4405;G=1/A=13005	lod=37:355	DAMAGING	D	-	het	1
6	1	95492814	A	G	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	c.291T>C	p.Y97Y	syn	rs199810632	-	-	-	-	-	-	het	1
7	1	95530411	T	C	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	+11bp 5'_splice_site	rs151088933	0.0274	C=2/T=8596;C=1/T=4403;C=3/T=12999	-	-	-	-	het	4
8	1	95530411	T	C	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	-	-	+11bp 5'_splice_site	rs151088933	0.0274	C=2/T=8596;C=1/T=4403;C=3/T=12999	-	-	-	-	het	4
9	1	95530591	A	T	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	-18bp 3'_splice_site	rs12751061	0.06593	T=872/A=7728;T=223/A=4181;T=1095/A=11909	-	-	-	-	het	151
10	1	95530591	A	T	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	-	-	-18bp 3'_splice_site	rs12751061	0.06593	T=872/A=7728;T=223/A=4181;T=1095/A=11909	-	-	-	-	hom	8
11	1	95530591	A	T	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	-	-	-18bp 3'_splice_site	rs12751061	0.06593	T=872/A=7728;T=223/A=4181;T=1095/A=11909	-	-	-	-	het	151
12	1	95530591	A	T	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	-	-	-18bp 3'_splice_site	rs12751061	0.06593	T=872/A=7728;T=223/A=4181;T=1095/A=11909	-	-	-	-	hom	8
13	1	95538342	C	A	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	c.113G>T	p.S38I	non-syn	rs139521179	0.001	A=40/C=8560;A=3/C=4403;A=43/C=12963	lod=25:313	TOLERATED	B	-	het	5
14	1	95538342	C	A	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	c.89G>T	p.S30I	non-syn	rs139521179	0.001	A=40/C=8560;A=3/C=4403;A=43/C=12963	lod=25:313	TOLERATED	B	-	het	5
15	1	95538357	G	A	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	c.98C>T	p.P33L	non-syn	rs200080963	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	TOLERATED	B	-	het	1
16	1	95538357	G	A	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	c.74C>T	p.P25L	non-syn	rs200080963	-	A=2/G=8598;A=0/G=4406;A=2/G=13004	-	TOLERATED	B	-	het	1
17	1	95538415	C	T	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	c.40G>A	p.V14M	non-syn	rs11165298	-	T=0/C=8600;T=10/C=4396;T=10/C=12996	-	DAMAGING	B	-	het	1
18	1	95538415	C	T	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	c.16G>A	p.V6M	non-syn	rs11165298	-	T=0/C=8600;T=10/C=4396;T=10/C=12996	-	DAMAGING	B	-	het	1
19	1	95538424	C	T	ENST00000370205	ENSG00000172339	95439963	95538501	ENSP00000359224	ALG14	-1	ALG14_HUMAN	c.31G>A	p.A11T	non-syn	rs34364382	0.0094	T=101/C=8499;T=6/C=4400;T=107/C=12899	-	TOLERATED	B	-	het	23
20	1	95538424	C	T	ENST00000495856	ENSG00000172339	95439963	95538501	-	ALG14	-1	-	c.7G>A	p.A3T	non-syn	rs34364382	0.0094	T=101/C=8499;T=6/C=4400;T=107/C=12899	-	TOLERATED	B	-	het	23

** 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 ALG14 1:95439963..95538501 region Gbrowse