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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 ENSG00000116675:

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
ENSG00000116675	DNAJC6	0	0	3	ENSG00000116675	ENST00000463018		DnaJ (Hsp40) homolog, subfamily C, member 6 [Source:HGNC Symbol;Acc:15469]	1	65713902	65881552	1	p31.3	65713902	65831877	DNAJC6	DNAJC6-004	HGNC Symbol	HGNC transcript name	8	40.01	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	9829	15469	DNAJC6		27511

MSeqDR Master Exome Data Set M1: 202 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	65775289	C	T	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
2	1	65775321	G	A	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	-	-	5'_UTR	NA	0.0121	-	-	-	-	-	het	1
3	1	65775330	A	-T	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	16
4	1	65775330	A	+T	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
5	1	65775582	C	G	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	c.154C>G	p.R52G	non-syn	NA	-	-	lod=280:571	TOLERATED	-	-	het	2
6	1	65830301	T	G	ENST00000263441	ENSG00000116675	65713902	65881552	ENSP00000263441	DNAJC6	1	AUXI_HUMAN	-	-	-17bp 3'_splice_site	NA	-	G=1/T=8595;G=2/T=4400;G=3/T=12995	-	-	-	-	hom	1
7	1	65830301	T	G	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	-	-	-17bp 3'_splice_site	NA	-	G=1/T=8595;G=2/T=4400;G=3/T=12995	-	-	-	-	hom	1
8	1	65830301	T	G	ENST00000395325	ENSG00000116675	65713902	65881552	ENSP00000378735	DNAJC6	1	AUXI_HUMAN	-	-	-17bp 3'_splice_site	NA	-	G=1/T=8595;G=2/T=4400;G=3/T=12995	-	-	-	-	hom	1
9	1	65830301	T	G	ENST00000463018	ENSG00000116675	65713902	65881552	-	DNAJC6	1	-	-	-	-17bp 3'_splice_site	NA	-	G=1/T=8595;G=2/T=4400;G=3/T=12995	-	-	-	-	hom	1
10	1	65830301	T	G	ENST00000483402	ENSG00000116675	65713902	65881552	-	DNAJC6	1	-	-	-	-17bp 3'_splice_site	NA	-	G=1/T=8595;G=2/T=4400;G=3/T=12995	-	-	-	-	hom	1
11	1	65830301	T	G	ENST00000494710	ENSG00000116675	65713902	65881552	ENSP00000473821	DNAJC6	1	-	-	-	-17bp 3'_splice_site	NA	-	G=1/T=8595;G=2/T=4400;G=3/T=12995	-	-	-	-	hom	1
12	1	65830319	T	G	ENST00000263441	ENSG00000116675	65713902	65881552	ENSP00000263441	DNAJC6	1	AUXI_HUMAN	-	-	5'_UTR	NA	-	-	lod=57:401	-	-	-	het	14
13	1	65830319	T	G	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	c.195T>G	p.G65G	syn	NA	-	-	lod=57:401	-	-	-	het	14
14	1	65830319	T	G	ENST00000395325	ENSG00000116675	65713902	65881552	ENSP00000378735	DNAJC6	1	AUXI_HUMAN	c.24T>G	p.G8G	syn	NA	-	-	lod=57:401	-	-	-	het	14
15	1	65830319	T	G	ENST00000463018	ENSG00000116675	65713902	65881552	-	DNAJC6	1	-	c.200T>G	p.V67G	non-syn	NA	-	-	lod=57:401	-	-	-	het	14
16	1	65830319	T	G	ENST00000483402	ENSG00000116675	65713902	65881552	-	DNAJC6	1	-	c.284T>G	p.V95G	non-syn	NA	-	-	lod=57:401	-	-	-	het	14
17	1	65830319	T	G	ENST00000494710	ENSG00000116675	65713902	65881552	ENSP00000473821	DNAJC6	1	-	c.117T>G	p.G39G	syn	NA	-	-	lod=57:401	-	-	-	het	14
18	1	65830323	T	C	ENST00000263441	ENSG00000116675	65713902	65881552	ENSP00000263441	DNAJC6	1	AUXI_HUMAN	-	-	5'_UTR	NA	-	-	lod=57:401	TOLERATED	P	-	het	1
19	1	65830323	T	C	ENST00000371069	ENSG00000116675	65713902	65881552	ENSP00000360108	DNAJC6	1	AUXI_HUMAN	c.199T>C	p.S67P	non-syn	NA	-	-	lod=57:401	TOLERATED	P	-	het	1
20	1	65830323	T	C	ENST00000395325	ENSG00000116675	65713902	65881552	ENSP00000378735	DNAJC6	1	AUXI_HUMAN	c.28T>C	p.S10P	non-syn	NA	-	-	lod=57:401	TOLERATED	P	-	het	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,
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Transcripts and variants in the surrounding DNAJC6 1:65713902..65881552 region Gbrowse