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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 FANCD2:

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
ENSG00000144554	FANCD2	0	0	23	ENSG00000144554	ENST00000287647	ENSP00000287647	Fanconi anemia, complementation group D2 [Source:HGNC Symbol;Acc:3585]	3	10068098	10143614	1	p25.3	10068098	10141344	FANCD2	FANCD2-001	HGNC Symbol	HGNC transcript name	13	42.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2177	3585	FANCD2	NM_033084	27517

MSeqDR Master Exome Data Set M1: 553 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	10068118	G	C	ENST00000287647	ENSG00000144554	10068098	10143614	ENSP00000287647	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	3
2	3	10068118	G	C	ENST00000383806	ENSG00000144554	10068098	10143614	ENSP00000373317	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	3
3	3	10068118	G	C	ENST00000383807	ENSG00000144554	10068098	10143614	ENSP00000373318	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	NA	-	-	lod=40:363	-	-	-	het	3
4	3	10070336	G	C	ENST00000287647	ENSG00000144554	10068098	10143614	ENSP00000287647	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	rs3732974	0.0205	C=12/G=8588;C=4/G=4402;C=16/G=12990	-	-	-	-	het	10
5	3	10070336	G	C	ENST00000383806	ENSG00000144554	10068098	10143614	ENSP00000373317	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	rs3732974	0.0205	C=12/G=8588;C=4/G=4402;C=16/G=12990	-	-	-	-	het	10
6	3	10070336	G	C	ENST00000383807	ENSG00000144554	10068098	10143614	ENSP00000373318	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	rs3732974	0.0205	C=12/G=8588;C=4/G=4402;C=16/G=12990	-	-	-	-	het	10
7	3	10070336	G	C	ENST00000419585	ENSG00000144554	10068098	10143614	ENSP00000398754	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	rs3732974	0.0205	C=12/G=8588;C=4/G=4402;C=16/G=12990	-	-	-	-	het	10
8	3	10070336	G	C	ENST00000431693	ENSG00000144554	10068098	10143614	ENSP00000399354	FANCD2	1	FACD2_HUMAN	-	-	5'_UTR	rs3732974	0.0205	C=12/G=8588;C=4/G=4402;C=16/G=12990	-	-	-	-	het	10
9	3	10070336	G	C	ENST00000435522	ENSG00000144554	10068098	10143614	ENSP00000402166	FANCD2	1	-	-	-	5'_UTR	rs3732974	0.0205	C=12/G=8588;C=4/G=4402;C=16/G=12990	-	-	-	-	het	10
10	3	10070357	A	G	ENST00000287647	ENSG00000144554	10068098	10143614	ENSP00000287647	FANCD2	1	FACD2_HUMAN	c.16A>G	p.R6G	non-syn	NA	-	-	lod=47:381	DAMAGING	P	-	het	1
11	3	10070357	A	G	ENST00000383806	ENSG00000144554	10068098	10143614	ENSP00000373317	FANCD2	1	FACD2_HUMAN	c.16A>G	p.R6G	non-syn	NA	-	-	lod=47:381	DAMAGING	P	-	het	1
12	3	10070357	A	G	ENST00000383807	ENSG00000144554	10068098	10143614	ENSP00000373318	FANCD2	1	FACD2_HUMAN	c.16A>G	p.R6G	non-syn	NA	-	-	lod=47:381	DAMAGING	P	-	het	1
13	3	10070357	A	G	ENST00000419585	ENSG00000144554	10068098	10143614	ENSP00000398754	FANCD2	1	FACD2_HUMAN	c.16A>G	p.R6G	non-syn	NA	-	-	lod=47:381	DAMAGING	P	-	het	1
14	3	10070357	A	G	ENST00000431693	ENSG00000144554	10068098	10143614	ENSP00000399354	FANCD2	1	FACD2_HUMAN	c.16A>G	p.R6G	non-syn	NA	-	-	lod=47:381	DAMAGING	P	-	het	1
15	3	10070357	A	G	ENST00000435522	ENSG00000144554	10068098	10143614	ENSP00000402166	FANCD2	1	-	c.16A>G	p.R6G	non-syn	NA	-	-	lod=47:381	DAMAGING	P	-	het	1
16	3	10070374	G	A	ENST00000287647	ENSG00000144554	10068098	10143614	ENSP00000287647	FANCD2	1	FACD2_HUMAN	c.33G>A	p.E11E	syn	rs147426418	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	lod=15:259	-	-	-	het	1
17	3	10070374	G	A	ENST00000383806	ENSG00000144554	10068098	10143614	ENSP00000373317	FANCD2	1	FACD2_HUMAN	c.33G>A	p.E11E	syn	rs147426418	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	lod=15:259	-	-	-	het	1
18	3	10070374	G	A	ENST00000383807	ENSG00000144554	10068098	10143614	ENSP00000373318	FANCD2	1	FACD2_HUMAN	c.33G>A	p.E11E	syn	rs147426418	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	lod=15:259	-	-	-	het	1
19	3	10070374	G	A	ENST00000419585	ENSG00000144554	10068098	10143614	ENSP00000398754	FANCD2	1	FACD2_HUMAN	c.33G>A	p.E11E	syn	rs147426418	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	lod=15:259	-	-	-	het	1
20	3	10070374	G	A	ENST00000431693	ENSG00000144554	10068098	10143614	ENSP00000399354	FANCD2	1	FACD2_HUMAN	c.33G>A	p.E11E	syn	rs147426418	-	A=0/G=8600;A=1/G=4405;A=1/G=13005	lod=15:259	-	-	-	het	1

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Transcripts and variants in the surrounding FANCD2 3:10068098..10143614 region Gbrowse