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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 TBCE:

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
ENSG00000116957	TBCE	0	0	5	ENSG00000116957	ENST00000366601	ENSP00000355560	tubulin folding cofactor E [Source:HGNC Symbol;Acc:11582]	1	235530675	235612283	1	q42.3	235530675	235612283	TBCE	TBCE-001	HGNC Symbol	HGNC transcript name	7	44.4	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6905	11582	TBCE		27511

MSeqDR Master Exome Data Set M1: 201 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	1	235530802	T	C	ENST00000366601	ENSG00000116957	235530675	235612283	ENSP00000355560	TBCE	1	TBCE_HUMAN	-	-	5'_UTR	rs55980101	0.106	-	-	-	-	-	het	7
2	1	235530802	T	C	ENST00000406207	ENSG00000116957	235530675	235612283	ENSP00000384571	TBCE	1	TBCE_HUMAN	-	-	5'_UTR	rs55980101	0.106	-	-	-	-	-	het	7
3	1	235530802	T	C	ENST00000472011	ENSG00000116957	235530675	235612283	-	TBCE	1	-	c.33T>C	p.P11P	syn	rs55980101	0.106	-	-	-	-	-	het	7
4	1	235530802	T	C	ENST00000482230	ENSG00000116957	235530675	235612283	-	TBCE	1	-	c.63T>C	p.P21P	syn	rs55980101	0.106	-	-	-	-	-	het	7
5	1	235530802	T	C	ENST00000543662	ENSG00000116957	235530675	235612283	ENSP00000439170	TBCE	1	-	-	-	5'_UTR	rs55980101	0.106	-	-	-	-	-	het	7
6	1	235543474	T	-ATTGTGTGTGTGTGTGTGTGTG	ENST00000366601	ENSG00000116957	235530675	235612283	ENSP00000355560	TBCE	1	TBCE_HUMAN	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
7	1	235543474	T	-ATTGTGTGTGTGTGTGTGTGTG	ENST00000406207	ENSG00000116957	235530675	235612283	ENSP00000384571	TBCE	1	TBCE_HUMAN	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
8	1	235543474	T	-ATTGTGTGTGTGTGTGTGTGTG	ENST00000472011	ENSG00000116957	235530675	235612283	-	TBCE	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
9	1	235543474	T	-ATTGTGTGTGTGTGTGTGTGTG	ENST00000482230	ENSG00000116957	235530675	235612283	-	TBCE	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
10	1	235543474	T	-ATTGTGTGTGTGTGTGTGTGTG	ENST00000543662	ENSG00000116957	235530675	235612283	ENSP00000439170	TBCE	1	-	-	-	+10bp 5'_splice_site	NA	-	-	-	-	-	-	hom	1
11	1	235543476	T	-TGTG	ENST00000366601	ENSG00000116957	235530675	235612283	ENSP00000355560	TBCE	1	TBCE_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
12	1	235543476	T	-TGTG	ENST00000406207	ENSG00000116957	235530675	235612283	ENSP00000384571	TBCE	1	TBCE_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
13	1	235543476	T	-TGTG	ENST00000472011	ENSG00000116957	235530675	235612283	-	TBCE	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
14	1	235543476	T	-TGTG	ENST00000482230	ENSG00000116957	235530675	235612283	-	TBCE	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
15	1	235543476	T	-TGTG	ENST00000543662	ENSG00000116957	235530675	235612283	ENSP00000439170	TBCE	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
16	1	235543476	T	-TGTGTG	ENST00000366601	ENSG00000116957	235530675	235612283	ENSP00000355560	TBCE	1	TBCE_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
17	1	235543476	T	-TGTGTG	ENST00000406207	ENSG00000116957	235530675	235612283	ENSP00000384571	TBCE	1	TBCE_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
18	1	235543476	T	-TGTGTG	ENST00000472011	ENSG00000116957	235530675	235612283	-	TBCE	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
19	1	235543476	T	-TGTGTG	ENST00000482230	ENSG00000116957	235530675	235612283	-	TBCE	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
20	1	235543476	T	-TGTGTG	ENST00000543662	ENSG00000116957	235530675	235612283	ENSP00000439170	TBCE	1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	2

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding TBCE 1:235530675..235612283 region Gbrowse