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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 TCAP:

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
ENSG00000173991	TCAP	1	2	46	ENSG00000173991	ENST00000309889	ENSP00000312624	titin-cap [Source:HGNC Symbol;Acc:11610]	17	37820440	37822808	1	q12	37820440	37822808	TCAP	TCAP-001	HGNC Symbol	HGNC transcript name	2	62.39	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8557	11610	TCAP		27509

MSeqDR Master Exome Data Set M1: 46 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	17	37820457	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	17	37820756	T	G	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs2934962	0.0393	-	-	-	-	-	het	42
3	17	37820817	T	C	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs71369784	0.052	-	-	-	-	-	het	2
4	17	37820926	G	C	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	17	37820992	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs2934963	0.0633	-	-	-	-	-	het	42
6	17	37821170	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs58627150	0.0353	-	lod=25:313	-	-	-	het	3
7	17	37821248	T	C	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs115582106	0.0124	-	-	-	-	-	het	2
8	17	37821268	T	C	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	NA	-	-	lod=22:300	-	-	-	het	1
9	17	37821275	A	G	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs35821333	0.0484	-	lod=22:300	-	-	-	het	6
10	17	37821435	G	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs931992	0.589	-	-	-	-	-	het	312
11	17	37821435	G	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs931992	0.589	-	-	-	-	-	hom	311
12	17	37821447	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	rs144450249	0.0112	-	-	-	-	-	het	2
13	17	37821478	C	G	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
14	17	37821512	T	C	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	-	-	5'_UTR	NA	-	-	lod=136:494	-	-	-	het	1
15	17	37821644	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	c.32C>T	p.S11L	non-syn	rs45495192	0.005	T=1/C=8599;T=21/C=4385;T=22/C=12984	lod=77:433	-	D	-	het	2
16	17	37821644	C	T	ENST00000578283	ENSG00000173991	37820440	37822808	ENSP00000462787	TCAP	1	-	c.32C>T	p.S11L	non-syn	rs45495192	0.005	T=1/C=8599;T=21/C=4385;T=22/C=12984	lod=77:433	-	D	-	het	2
17	17	37821716	A	G	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	c.104A>G	p.E35G	non-syn	NA	-	-	lod=55:397	-	D	-	het	1
18	17	37821716	A	G	ENST00000578283	ENSG00000173991	37820440	37822808	ENSP00000462787	TCAP	1	-	c.104A>G	p.E35G	non-syn	NA	-	-	lod=55:397	-	D	-	het	1
19	17	37822049	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	c.191C>T	p.S64L	non-syn	rs45458802	0.0056	T=1/C=8599;T=45/C=4355;T=46/C=12954	lod=332:590	-	D	-	het	2
20	17	37822049	C	T	ENST00000309889	ENSG00000173991	37820440	37822808	ENSP00000312624	TCAP	1	TELT_HUMAN	c.191C>T	p.S64L	non-syn	rs45458802	0.0056	T=1/C=8599;T=45/C=4355;T=46/C=12954	lod=332:590	-	D	-	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**,
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Transcripts and variants in the surrounding TCAP 17:37820440..37822808 region Gbrowse