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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 FA2H:

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
ENSG00000103089	FA2H	1	0	20	ENSG00000103089	ENST00000562145		fatty acid 2-hydroxylase [Source:HGNC Symbol;Acc:21197]	16	74746853	74808729	-1	q23.1	74746853	74751004	FA2H	FA2H-003	HGNC Symbol	HGNC transcript name	5	50.89	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	79152	21197	FA2H		27514

MSeqDR Master Exome Data Set M1: 139 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	16	74746957	T	G	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	rs7189731	0.1357	-	lod=90:450	-	-	-	het	3
2	16	74746957	T	G	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1971A>C	p.G657G	syn	rs7189731	0.1357	-	lod=90:450	-	-	-	het	3
3	16	74746983	G	C	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	NA	-	-	lod=67:419	-	-	-	het	1
4	16	74746983	G	C	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1945C>G	p.L649V	non-syn	NA	-	-	lod=67:419	-	-	-	het	1
5	16	74747021	C	T	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	rs148090175	0.0099	-	-	-	-	-	het	4
6	16	74747021	C	T	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1907G>A	p.R636H	non-syn	rs148090175	0.0099	-	-	-	-	-	het	4
7	16	74747024	G	C	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	rs1046371	0.24859	-	-	-	-	-	het	333
8	16	74747024	G	C	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	rs1046371	0.24859	-	-	-	-	-	hom	78
9	16	74747024	G	C	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1904C>G	p.T635S	non-syn	rs1046371	0.24859	-	-	-	-	-	het	333
10	16	74747024	G	C	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1904C>G	p.T635S	non-syn	rs1046371	0.24859	-	-	-	-	-	hom	78
11	16	74747213	T	G	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
12	16	74747213	T	G	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1715A>C	p.K572T	non-syn	NA	-	-	lod=24:309	-	-	-	het	1
13	16	74747267	G	C	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	16	74747267	G	C	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1661C>G	p.P554R	non-syn	NA	-	-	-	-	-	-	het	1
15	16	74747361	G	C	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	16	74747361	G	C	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1567C>G	p.P523A	non-syn	NA	-	-	-	-	-	-	het	1
17	16	74747451	C	G	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	rs56033857	0.3594	-	-	-	-	-	het	290
18	16	74747451	C	G	ENST00000219368	ENSG00000103089	74746853	74808729	ENSP00000219368	FA2H	-1	FA2H_HUMAN	-	-	3'_UTR	rs56033857	0.3594	-	-	-	-	-	hom	88
19	16	74747451	C	G	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1477G>C	p.G493R	non-syn	rs56033857	0.3594	-	-	-	-	-	het	290
20	16	74747451	C	G	ENST00000562145	ENSG00000103089	74746853	74808729	-	FA2H	-1	-	c.1477G>C	p.G493R	non-syn	rs56033857	0.3594	-	-	-	-	-	hom	88

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FA2H 16:74746853..74808729 region Gbrowse