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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 TTN:

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
ENSG00000155657	TTN	1	38	2013	ENSG00000155657	ENST00000342992	ENSP00000343764	titin [Source:HGNC Symbol;Acc:12403]	2	179390716	179695529	-1	q31.2	179390716	179672148	TTN	TTN-002	HGNC Symbol	HGNC transcript name	15	37.71	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7273	12403	TTN	NM_133378	27508

MSeqDR Master Exome Data Set M1: 745 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	2	179390724	T	C	ENST00000342175	ENSG00000155657	179390716	179695529	ENSP00000340554	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629798	0.0063	-	lod=434:618	-	-	-	het	3
2	2	179390724	T	C	ENST00000342992	ENSG00000155657	179390716	179695529	ENSP00000343764	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629798	0.0063	-	lod=434:618	-	-	-	het	3
3	2	179390724	T	C	ENST00000359218	ENSG00000155657	179390716	179695529	ENSP00000352154	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629798	0.0063	-	lod=434:618	-	-	-	het	3
4	2	179390724	T	C	ENST00000460472	ENSG00000155657	179390716	179695529	ENSP00000434586	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629798	0.0063	-	lod=434:618	-	-	-	het	3
5	2	179390724	T	C	ENST00000589042	ENSG00000155657	179390716	179695529	ENSP00000467141	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629798	0.0063	-	lod=434:618	-	-	-	het	3
6	2	179390724	T	C	ENST00000591111	ENSG00000155657	179390716	179695529	ENSP00000465570	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629798	0.0063	-	lod=434:618	-	-	-	het	3
7	2	179391075	C	A	ENST00000342175	ENSG00000155657	179390716	179695529	ENSP00000340554	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629796	0.0454	-	lod=241:555	-	-	-	het	26
8	2	179391075	C	A	ENST00000342992	ENSG00000155657	179390716	179695529	ENSP00000343764	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629796	0.0454	-	lod=241:555	-	-	-	het	26
9	2	179391075	C	A	ENST00000359218	ENSG00000155657	179390716	179695529	ENSP00000352154	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629796	0.0454	-	lod=241:555	-	-	-	het	26
10	2	179391075	C	A	ENST00000460472	ENSG00000155657	179390716	179695529	ENSP00000434586	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629796	0.0454	-	lod=241:555	-	-	-	het	26
11	2	179391075	C	A	ENST00000589042	ENSG00000155657	179390716	179695529	ENSP00000467141	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629796	0.0454	-	lod=241:555	-	-	-	het	26
12	2	179391075	C	A	ENST00000591111	ENSG00000155657	179390716	179695529	ENSP00000465570	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	rs72629796	0.0454	-	lod=241:555	-	-	-	het	26
13	2	179391089	C	-T	ENST00000342175	ENSG00000155657	179390716	179695529	ENSP00000340554	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	2	179391089	C	-T	ENST00000342992	ENSG00000155657	179390716	179695529	ENSP00000343764	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	2	179391089	C	-T	ENST00000359218	ENSG00000155657	179390716	179695529	ENSP00000352154	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	2	179391089	C	-T	ENST00000460472	ENSG00000155657	179390716	179695529	ENSP00000434586	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	2	179391089	C	-T	ENST00000589042	ENSG00000155657	179390716	179695529	ENSP00000467141	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	2	179391089	C	-T	ENST00000591111	ENSG00000155657	179390716	179695529	ENSP00000465570	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	2	179391103	A	C	ENST00000342175	ENSG00000155657	179390716	179695529	ENSP00000340554	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=78:435	-	-	-	het	1
20	2	179391103	A	C	ENST00000342992	ENSG00000155657	179390716	179695529	ENSP00000343764	TTN	-1	TITIN_HUMAN	-	-	3'_UTR	NA	-	-	lod=78:435	-	-	-	het	1

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Transcripts and variants in the surrounding TTN 2:179390716..179695529 region Gbrowse