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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 CAPN5:

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
ENSG00000149260	CAPN5	0	0	2	ENSG00000149260	ENST00000531028	ENSP00000467244	calpain 5 [Source:HGNC Symbol;Acc:1482]	11	76777979	76837201	1	q13.5	76777979	76834962	CAPN5	CAPN5-006	HGNC Symbol	HGNC transcript name	7	55.96	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	726	1482	CAPN5		27504
ENSG00000262875	CAPN5	0	0	2	ENSG00000262875	ENST00000572669	ENSP00000466815	calpain 5 [Source:HGNC Symbol;Acc:1482]	HG414_PATCH	76777976	76835592	1	q13.5	76777976	76834959	CAPN5	CAPN5-005	HGNC Symbol	HGNC transcript name	7	56.03	protein_coding	protein_coding	havana	havana	KNOWN	PUTATIVE	726	1482	CAPN5		1000558278

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MSeqDR Master Exome Data Set M1: 236 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	11	76782698	C	T	ENST00000529629	ENSG00000149260	76777979	76837201	ENSP00000432332	CAPN5	1	CAN5_HUMAN	-	-	5'_UTR	rs147690270	0.0074	-	-	-	-	-	het	1
2	11	76784047	C	T	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	-	-	5'_UTR	rs11825526	0.11	-	-	-	-	-	het	6
3	11	76784071	G	A	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	11	76784115	C	T	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	-	-	5'_UTR	rs61902106	-	-	-	DAMAGING	-	-	het	3
5	11	76795930	A	G	ENST00000278559	ENSG00000149260	76777979	76837201	ENSP00000278559	CAPN5	1	CAN5_HUMAN	-	-	5'_UTR	NA	-	-	lod=58:403	TOLERATED	-	-	het	1
6	11	76795930	A	G	ENST00000456580	ENSG00000149260	76777979	76837201	ENSP00000409996	CAPN5	1	-	-	-	5'_UTR	NA	-	-	lod=58:403	TOLERATED	-	-	het	1
7	11	76795930	A	G	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	-	-	5'_UTR	NA	-	-	lod=58:403	TOLERATED	-	-	het	1
8	11	76795930	A	G	ENST00000529629	ENSG00000149260	76777979	76837201	ENSP00000432332	CAPN5	1	CAN5_HUMAN	-	-	5'_UTR	NA	-	-	lod=58:403	TOLERATED	-	-	het	1
9	11	76795930	A	G	ENST00000531028	ENSG00000149260	76777979	76837201	ENSP00000467244	CAPN5	1	-	-	-	5'_UTR	NA	-	-	lod=58:403	TOLERATED	-	-	het	1
10	11	76795955	A	G	ENST00000278559	ENSG00000149260	76777979	76837201	ENSP00000278559	CAPN5	1	CAN5_HUMAN	c.23A>G	p.Y8C	non-syn	NA	-	-	lod=77:433	DAMAGING	D	-	het	1
11	11	76795955	A	G	ENST00000456580	ENSG00000149260	76777979	76837201	ENSP00000409996	CAPN5	1	-	c.23A>G	p.Y8C	non-syn	NA	-	-	lod=77:433	DAMAGING	D	-	het	1
12	11	76795955	A	G	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	c.23A>G	p.Y8C	non-syn	NA	-	-	lod=77:433	DAMAGING	D	-	het	1
13	11	76795955	A	G	ENST00000529629	ENSG00000149260	76777979	76837201	ENSP00000432332	CAPN5	1	CAN5_HUMAN	c.23A>G	p.Y8C	non-syn	NA	-	-	lod=77:433	DAMAGING	D	-	het	1
14	11	76795955	A	G	ENST00000531028	ENSG00000149260	76777979	76837201	ENSP00000467244	CAPN5	1	-	c.23A>G	p.Y8C	non-syn	NA	-	-	lod=77:433	DAMAGING	D	-	het	1
15	11	76795962	C	G	ENST00000278559	ENSG00000149260	76777979	76837201	ENSP00000278559	CAPN5	1	CAN5_HUMAN	c.30C>G	p.D10E	non-syn	rs34801837	0.0536	G=2/C=8582;G=404/C=3996;G=406/C=12578	lod=77:433	TOLERATED	B	-	het	8
16	11	76795962	C	G	ENST00000278559	ENSG00000149260	76777979	76837201	ENSP00000278559	CAPN5	1	CAN5_HUMAN	c.30C>G	p.D10E	non-syn	rs34801837	0.0536	G=2/C=8582;G=404/C=3996;G=406/C=12578	lod=77:433	TOLERATED	B	-	hom	1
17	11	76795962	C	G	ENST00000456580	ENSG00000149260	76777979	76837201	ENSP00000409996	CAPN5	1	-	c.30C>G	p.D10E	non-syn	rs34801837	0.0536	G=2/C=8582;G=404/C=3996;G=406/C=12578	lod=77:433	TOLERATED	B	-	het	8
18	11	76795962	C	G	ENST00000456580	ENSG00000149260	76777979	76837201	ENSP00000409996	CAPN5	1	-	c.30C>G	p.D10E	non-syn	rs34801837	0.0536	G=2/C=8582;G=404/C=3996;G=406/C=12578	lod=77:433	TOLERATED	B	-	hom	1
19	11	76795962	C	G	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	c.30C>G	p.D10E	non-syn	rs34801837	0.0536	G=2/C=8582;G=404/C=3996;G=406/C=12578	lod=77:433	TOLERATED	B	-	het	8
20	11	76795962	C	G	ENST00000527066	ENSG00000149260	76777979	76837201	ENSP00000435894	CAPN5	1	-	c.30C>G	p.D10E	non-syn	rs34801837	0.0536	G=2/C=8582;G=404/C=3996;G=406/C=12578	lod=77:433	TOLERATED	B	-	hom	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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding CAPN5 11:76777979..76837201 region Gbrowse