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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 FANCE:

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
ENSG00000112039	FANCE	0	0	21	ENSG00000112039	ENST00000229769	ENSP00000229769	Fanconi anemia, complementation group E [Source:HGNC Symbol;Acc:3586]	6	35420138	35434880	1	p21.31	35420138	35434880	FANCE	FANCE-001	HGNC Symbol	HGNC transcript name	1	50.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2178	3586	FANCE	NM_021922	27515

MSeqDR Master Exome Data Set M1: 34 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	6	35420144	T	+G	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
2	6	35420146	C	G	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	6	35420197	T	A	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	6	35420218	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	6	35420260	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	6	35420267	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	5'_UTR	rs4713866	0.0593	-	-	-	-	-	het	19
7	6	35420551	C	A	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.229C>A	p.P77T	non-syn	NA	-	-	-	TOLERATED	D	-	hom	1
8	6	35420577	C	A	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	-	-	+7bp 5'_splice_site	rs186563531	0.0062	-	-	-	-	-	het	1
9	6	35423528	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.253C>T	p.P85S	non-syn	rs145068586	-	T=3/C=8597;T=1/C=4405;T=4/C=13002	lod=60:407	DAMAGING	D	-	het	2
10	6	35423541	G	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.266G>T	p.R89L	non-syn	rs45600543	0.0118	-	lod=60:407	TOLERATED	D	-	het	2
11	6	35423662	A	C	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.387A>C	p.P129P	syn	rs4713867	0.71	C=5777/A=2823;C=3791/A=615;C=9568/A=3438	-	-	-	-	hom	472
12	6	35423662	A	C	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.387A>C	p.P129P	syn	rs4713867	0.71	C=5777/A=2823;C=3791/A=615;C=9568/A=3438	-	-	-	-	het	367
13	6	35423875	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.600C>T	p.R200R	syn	NA	-	-	lod=21:295	-	-	-	het	1
14	6	35423886	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.611C>T	p.S204L	non-syn	rs7761870	0.0784	T=122/C=8478;T=428/C=3978;T=550/C=12456	-	TOLERATED	B	-	het	30
15	6	35423886	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.611C>T	p.S204L	non-syn	rs7761870	0.0784	T=122/C=8478;T=428/C=3978;T=550/C=12456	-	TOLERATED	B	-	hom	2
16	6	35424007	T	-GGA	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.733_735del	p.G245NA	non-syn	rs45451605	-	-	-	-	-	-	het	2
17	6	35425714	G	+C	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.922_923insC	p.A308NA	non-syn	NA	-	-	-	-	-	-	het	1
18	6	35426097	G	A	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.993G>A	p.L331L	syn	NA	-	-	lod=43:371	-	-	-	het	1
19	6	35426132	G	A	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.1028G>A	p.R343Q	non-syn	rs45467798	0.0141	-	lod=83:441	TOLERATED	B	-	het	3
20	6	35426175	C	T	ENST00000229769	ENSG00000112039	35420138	35434880	ENSP00000229769	FANCE	1	FANCE_HUMAN	c.1071C>T	p.L357L	syn	rs3823434	0.107	T=197/C=8403;T=35/C=4371;T=232/C=12774	-	-	-	-	het	59

** 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,
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Transcripts and variants in the surrounding FANCE 6:35420138..35434880 region Gbrowse