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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 CAPN3:

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
ENSG00000092529	CAPN3	1	0	90	ENSG00000092529	ENST00000397204	ENSP00000380387	calpain 3, (p94) [Source:HGNC Symbol;Acc:1480]	15	42640301	42704516	1	q15.1	42697029	42704513	CAPN3	CAPN3-012	HGNC Symbol	HGNC transcript name	20	46.11	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	825	1480	CAPN3	NM_173090	27521

MSeqDR Master Exome Data Set M1: 444 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	15	42640302	T	A	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs79004308	0.048	A=2/T=8596;A=1/T=4405;A=3/T=13001	lod=155:508	DAMAGING	P	-	het	7
2	15	42640317	G	A	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	NA	-	-	lod=155:508	TOLERATED	D	-	het	1
3	15	42643529	T	C	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs7181742	0.5621	C=1195/T=7403;C=2763/T=1643;C=3958/T=9046	lod=34:346	TOLERATED	B	-	het	255
4	15	42643529	T	C	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs7181742	0.5621	C=1195/T=7403;C=2763/T=1643;C=3958/T=9046	lod=34:346	TOLERATED	B	-	hom	39
5	15	42643538	A	G	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs7180279	0.184	G=486/A=8112;G=781/A=3625;G=1267/A=11737	-	TOLERATED	B	-	hom	9
6	15	42643538	A	G	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs7180279	0.184	G=486/A=8112;G=781/A=3625;G=1267/A=11737	-	TOLERATED	B	-	het	138
7	15	42643546	C	A	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs140454978	0.00182	A=11/C=8587;A=2/C=4404;A=13/C=12991	lod=117:478	TOLERATED	B	-	het	3
8	15	42644231	G	A	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs150055767	0.00181	A=9/G=8589;A=0/G=4406;A=9/G=12995	lod=14:251	DAMAGING	B	-	het	3
9	15	42646596	G	A	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	5'_UTR	rs141861070	0.0085	A=0/G=8144;A=9/G=3615;A=9/G=11759	-	-	-	-	het	2
10	15	42646611	G	A	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	c.8G>A	p.W3*	non-syn	rs187596079	0.0015	A=0/G=8142;A=7/G=3613;A=7/G=11755	-	TOLERATED	NA	-	het	1
11	15	42646671	G	-TGGCAATC	ENST00000356316	ENSG00000092529	42640301	42704516	ENSP00000348667	CAPN3	1	-	-	-	+20bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
12	15	42651801	T	C	ENST00000318023	ENSG00000092529	42640301	42704516	ENSP00000326281	CAPN3	1	-	-	-	5'_UTR	rs139492390	0.0056	-	-	-	-	-	het	1
13	15	42651801	T	C	ENST00000349748	ENSG00000092529	42640301	42704516	ENSP00000183936	CAPN3	1	CAN3_HUMAN	-	-	5'_UTR	rs139492390	0.0056	-	-	-	-	-	het	1
14	15	42651801	T	C	ENST00000357568	ENSG00000092529	42640301	42704516	ENSP00000350181	CAPN3	1	CAN3_HUMAN	-	-	5'_UTR	rs139492390	0.0056	-	-	-	-	-	het	1
15	15	42651801	T	C	ENST00000397163	ENSG00000092529	42640301	42704516	ENSP00000380349	CAPN3	1	CAN3_HUMAN	-	-	5'_UTR	rs139492390	0.0056	-	-	-	-	-	het	1
16	15	42651873	G	T	ENST00000318023	ENSG00000092529	42640301	42704516	ENSP00000326281	CAPN3	1	-	-	-	5'_UTR	rs113881834	0.007	-	-	-	-	-	het	7
17	15	42651873	G	T	ENST00000349748	ENSG00000092529	42640301	42704516	ENSP00000183936	CAPN3	1	CAN3_HUMAN	-	-	5'_UTR	rs113881834	0.007	-	-	-	-	-	het	7
18	15	42651873	G	T	ENST00000357568	ENSG00000092529	42640301	42704516	ENSP00000350181	CAPN3	1	CAN3_HUMAN	-	-	5'_UTR	rs113881834	0.007	-	-	-	-	-	het	7
19	15	42651873	G	T	ENST00000397163	ENSG00000092529	42640301	42704516	ENSP00000380349	CAPN3	1	CAN3_HUMAN	-	-	5'_UTR	rs113881834	0.007	-	-	-	-	-	het	7
20	15	42651900	G	C	ENST00000318023	ENSG00000092529	42640301	42704516	ENSP00000326281	CAPN3	1	-	-	-	5'_UTR	rs149698681	0.01737	-	lod=51:389	-	-	-	het	21

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Transcripts and variants in the surrounding CAPN3 15:42640301..42704516 region Gbrowse