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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 BANK1:

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
ENSG00000153064	BANK1	0	0	1	ENSG00000153064	ENST00000502990		B-cell scaffold protein with ankyrin repeats 1 [Source:HGNC Symbol;Acc:18233]	4	102332443	102995969	1	q24	102332443	102348797	BANK1	BANK1-005	HGNC Symbol	HGNC transcript name	8	36.28	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	55024	18233	BANK1		27524

MSeqDR Master Exome Data Set M1: 252 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	4	102642526	T	C	ENST00000504592	ENSG00000153064	102332443	102995969	ENSP00000421443	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	rs12506517	0.59307	-	-	-	-	-	hom	284
2	4	102642526	T	C	ENST00000504592	ENSG00000153064	102332443	102995969	ENSP00000421443	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	rs12506517	0.59307	-	-	-	-	-	het	313
3	4	102711822	C	T	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	NA	-	-	lod=35:349	-	-	-	het	3
4	4	102711822	C	T	ENST00000428908	ENSG00000153064	102332443	102995969	ENSP00000412748	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	NA	-	-	lod=35:349	-	-	-	het	3
5	4	102711957	C	T	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	4	102711957	C	T	ENST00000428908	ENSG00000153064	102332443	102995969	ENSP00000412748	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	4	102711957	C	T	ENST00000508653	ENSG00000153064	102332443	102995969	ENSP00000422314	BANK1	1	BANK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	4	102712079	C	T	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	c.42C>T	p.D14D	syn	NA	-	-	-	-	-	-	het	1
9	4	102712079	C	T	ENST00000428908	ENSG00000153064	102332443	102995969	ENSP00000412748	BANK1	1	BANK1_HUMAN	c.42C>T	p.D14D	syn	NA	-	-	-	-	-	-	het	1
10	4	102712079	C	T	ENST00000508653	ENSG00000153064	102332443	102995969	ENSP00000422314	BANK1	1	BANK1_HUMAN	c.42C>T	p.D14D	syn	NA	-	-	-	-	-	-	het	1
11	4	102712087	C	G	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	c.50C>G	p.P17R	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
12	4	102712087	C	G	ENST00000428908	ENSG00000153064	102332443	102995969	ENSP00000412748	BANK1	1	BANK1_HUMAN	c.50C>G	p.P17R	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
13	4	102712087	C	G	ENST00000508653	ENSG00000153064	102332443	102995969	ENSP00000422314	BANK1	1	BANK1_HUMAN	c.50C>G	p.P17R	non-syn	NA	-	-	-	TOLERATED	P	-	het	1
14	4	102712100	G	A	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	c.63G>A	p.A21A	syn	NA	-	-	lod=29:329	-	-	-	het	1
15	4	102712100	G	A	ENST00000428908	ENSG00000153064	102332443	102995969	ENSP00000412748	BANK1	1	BANK1_HUMAN	c.63G>A	p.A21A	syn	NA	-	-	lod=29:329	-	-	-	het	1
16	4	102712100	G	A	ENST00000508653	ENSG00000153064	102332443	102995969	ENSP00000422314	BANK1	1	BANK1_HUMAN	c.63G>A	p.A21A	syn	NA	-	-	lod=29:329	-	-	-	het	1
17	4	102751014	G	C	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	c.120G>C	p.W40C	non-syn	rs35978636	0.01103	C=154/G=8446;C=11/G=4391;C=165/G=12837	lod=75:431	DAMAGING	D	-	het	26
18	4	102751014	G	C	ENST00000444316	ENSG00000153064	102332443	102995969	ENSP00000388817	BANK1	1	BANK1_HUMAN	c.30G>C	p.W10C	non-syn	rs35978636	0.01103	C=154/G=8446;C=11/G=4391;C=165/G=12837	lod=75:431	DAMAGING	D	-	het	26
19	4	102751014	G	C	ENST00000504592	ENSG00000153064	102332443	102995969	ENSP00000421443	BANK1	1	BANK1_HUMAN	c.75G>C	p.W25C	non-syn	rs35978636	0.01103	C=154/G=8446;C=11/G=4391;C=165/G=12837	lod=75:431	DAMAGING	D	-	het	26
20	4	102751029	A	G	ENST00000322953	ENSG00000153064	102332443	102995969	ENSP00000320509	BANK1	1	BANK1_HUMAN	c.135A>G	p.T45T	syn	rs17031677	0.1102	G=1/A=8599;G=386/A=4020;G=387/A=12619	-	-	-	-	het	7

** 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 BANK1 4:102332443..102995969 region Gbrowse