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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 ABHD5:

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
ENSG00000011198	ABHD5	1	0	4	ENSG00000011198	ENST00000456453	ENSP00000391582	abhydrolase domain containing 5 [Source:HGNC Symbol;Acc:21396]	3	43731605	43775863	1	p21.33	43731605	43744076	ABHD5	ABHD5-005	HGNC Symbol	HGNC transcript name	7	40.26	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	51099	21396	ABHD5		27517

MSeqDR Master Exome Data Set M1: 48 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	3	43732371	A	G	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	-	-	5'_UTR	rs74845403	0.1119	-	-	-	-	-	hom	4
2	3	43732371	A	G	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	-	-	5'_UTR	rs74845403	0.1119	-	-	-	-	-	het	43
3	3	43732437	C	T	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	-	-	5'_UTR	NA	-	T=5/C=8455;T=0/C=4262;T=5/C=12717	lod=44:374	-	-	-	het	1
4	3	43732437	C	T	ENST00000486764	ENSG00000011198	43731605	43775863	-	ABHD5	1	-	c.54C>T	p.A18A	syn	NA	-	T=5/C=8455;T=0/C=4262;T=5/C=12717	lod=44:374	-	-	-	het	1
5	3	43732440	T	A	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	-	-	5'_UTR	NA	-	A=0/T=8484;A=14/T=4272;A=14/T=12756	lod=44:374	-	-	-	het	1
6	3	43732440	T	A	ENST00000486764	ENSG00000011198	43731605	43775863	-	ABHD5	1	-	c.57T>A	p.C19*	non-syn	NA	-	A=0/T=8484;A=14/T=4272;A=14/T=12756	lod=44:374	-	-	-	het	1
7	3	43732466	C	T	ENST00000013894	ENSG00000011198	43731605	43775863	ENSP00000013894	ABHD5	1	-	-	-	5'_UTR	rs117630969	0.0301	T=223/C=8287;T=26/C=4294;T=249/C=12581	-	-	-	-	het	70
8	3	43732466	C	T	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	-	-	5'_UTR	rs117630969	0.0301	T=223/C=8287;T=26/C=4294;T=249/C=12581	-	-	-	-	het	70
9	3	43732466	C	T	ENST00000486764	ENSG00000011198	43731605	43775863	-	ABHD5	1	-	c.83C>T	p.A28V	non-syn	rs117630969	0.0301	T=223/C=8287;T=26/C=4294;T=249/C=12581	-	-	-	-	het	70
10	3	43732472	C	T	ENST00000013894	ENSG00000011198	43731605	43775863	ENSP00000013894	ABHD5	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
11	3	43732472	C	T	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	3	43732472	C	T	ENST00000486764	ENSG00000011198	43731605	43775863	-	ABHD5	1	-	c.89C>T	p.A30V	non-syn	NA	-	-	-	-	-	-	het	1
13	3	43732495	A	C	ENST00000013894	ENSG00000011198	43731605	43775863	ENSP00000013894	ABHD5	1	-	c.11A>C	p.E4A	non-syn	rs138400599	-	C=1/A=8507;C=3/A=4341;C=4/A=12848	lod=29:329	TOLERATED	P	-	het	1
14	3	43732495	A	C	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	c.11A>C	p.E4A	non-syn	rs138400599	-	C=1/A=8507;C=3/A=4341;C=4/A=12848	lod=29:329	TOLERATED	P	-	het	1
15	3	43732495	A	C	ENST00000486764	ENSG00000011198	43731605	43775863	-	ABHD5	1	-	c.112A>C	p.R38R	syn	rs138400599	-	C=1/A=8507;C=3/A=4341;C=4/A=12848	lod=29:329	TOLERATED	P	-	het	1
16	3	43732496	G	A	ENST00000013894	ENSG00000011198	43731605	43775863	ENSP00000013894	ABHD5	1	-	c.12G>A	p.E4E	syn	rs141365045	0.0236	A=205/G=8307;A=38/G=4310;A=243/G=12617	lod=29:329	-	-	-	het	66
17	3	43732496	G	A	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	c.12G>A	p.E4E	syn	rs141365045	0.0236	A=205/G=8307;A=38/G=4310;A=243/G=12617	lod=29:329	-	-	-	het	66
18	3	43732496	G	A	ENST00000486764	ENSG00000011198	43731605	43775863	-	ABHD5	1	-	c.113G>A	p.R38K	non-syn	rs141365045	0.0236	A=205/G=8307;A=38/G=4310;A=243/G=12617	lod=29:329	-	-	-	het	66
19	3	43732510	A	G	ENST00000013894	ENSG00000011198	43731605	43775863	ENSP00000013894	ABHD5	1	-	c.26A>G	p.D9G	non-syn	rs144420157	-	G=5/A=8559;G=0/A=4388;G=5/A=12947	-	DAMAGING	P	-	het	6
20	3	43732510	A	G	ENST00000458276	ENSG00000011198	43731605	43775863	ENSP00000390849	ABHD5	1	ABHD5_HUMAN	c.26A>G	p.D9G	non-syn	rs144420157	-	G=5/A=8559;G=0/A=4388;G=5/A=12947	-	DAMAGING	P	-	het	6

** 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 ABHD5 3:43731605..43775863 region Gbrowse