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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 CRB2:

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
ENSG00000148204	CRB2	0	0	4	ENSG00000148204	ENST00000359999	ENSP00000353092	crumbs homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:18688]	9	126118449	126142603	1	q33.3	126118449	126136378	CRB2	CRB2-003	HGNC Symbol	HGNC transcript name	4	59.51	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	286204	18688	CRB2		27518

MSeqDR Master Exome Data Set M1: 376 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	9	126118471	G	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	-	-	5'_UTR	rs35454517	0.0683	-	lod=18:278	-	-	-	het	38
2	9	126118474	G	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	-	-	5'_UTR	NA	-	-	lod=18:278	-	-	-	het	1
3	9	126118492	C	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	-	-	5'_UTR	rs192413846	0.0026	-	-	-	-	-	het	4
4	9	126118517	A	-GCAGAGC	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	-	-	5'_UTR	rs72433015	-	-	lod=51:389	-	-	-	het	434
5	9	126118517	A	-GCAGAGC	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	-	-	5'_UTR	rs72433015	-	-	lod=51:389	-	-	-	hom	48
6	9	126118553	G	+C	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.14_15insC	p.R5NA	non-syn	NA	-	-	lod=13:243	-	-	-	het	1
7	9	126118553	G	+C	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.14_15insC	p.R5NA	non-syn	NA	-	-	lod=13:243	-	-	-	het	1
8	9	126118556	C	+A	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.17_18insA	p.P6NA	non-syn	NA	-	-	lod=13:243	-	-	-	het	1
9	9	126118556	C	+A	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.17_18insA	p.P6NA	non-syn	NA	-	-	lod=13:243	-	-	-	het	1
10	9	126118577	C	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.38C>T	p.A13V	non-syn	rs199695001	-	-	-	TOLERATED	NA	-	het	3
11	9	126118577	C	T	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.38C>T	p.A13V	non-syn	rs199695001	-	-	-	TOLERATED	NA	-	het	3
12	9	126118600	C	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.61C>T	p.L21L	syn	rs12551047	0.159	T=50/C=7326;T=314/C=3520;T=364/C=10846	lod=19:284	-	-	-	het	44
13	9	126118600	C	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.61C>T	p.L21L	syn	rs12551047	0.159	T=50/C=7326;T=314/C=3520;T=364/C=10846	lod=19:284	-	-	-	hom	2
14	9	126118600	C	T	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.61C>T	p.L21L	syn	rs12551047	0.159	T=50/C=7326;T=314/C=3520;T=364/C=10846	lod=19:284	-	-	-	het	44
15	9	126118600	C	T	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.61C>T	p.L21L	syn	rs12551047	0.159	T=50/C=7326;T=314/C=3520;T=364/C=10846	lod=19:284	-	-	-	hom	2
16	9	126118616	C	A	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.77C>A	p.A26D	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
17	9	126118616	C	A	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.77C>A	p.A26D	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
18	9	126125186	C	T	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.137C>T	p.P46L	non-syn	rs73571404	0.0123	T=2/C=8598;T=71/C=4335;T=73/C=12933	-	DAMAGING	D	-	het	7
19	9	126125186	C	T	ENST00000373631	ENSG00000148204	126118449	126142603	ENSP00000362734	CRB2	1	CRUM2_HUMAN	c.137C>T	p.P46L	non-syn	rs73571404	0.0123	T=2/C=8598;T=71/C=4335;T=73/C=12933	-	DAMAGING	D	-	het	7
20	9	126125318	C	A	ENST00000359999	ENSG00000148204	126118449	126142603	ENSP00000353092	CRB2	1	CRUM2_HUMAN	c.269C>A	p.T90N	non-syn	rs2808415	1	A=8596/C=0;A=4368/C=36;A=12964/C=36	-	TOLERATED	B	-	het	1

** 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 CRB2 9:126118449..126142603 region Gbrowse