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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 DCHS1:

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
ENSG00000166341	DCHS1	0	0	7	ENSG00000166341	ENST00000299441	ENSP00000299441	dachsous cadherin-related 1 [Source:HGNC Symbol;Acc:13681]	11	6642556	6677085	-1	p15.4	6642556	6677085	DCHS1	DCHS1-001	HGNC Symbol	HGNC transcript name	1	52.67	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8642	13681	DCHS1	NM_003737	27504

MSeqDR Master Exome Data Set M1: 143 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	11	6642599	G	A	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	NA	-	-	lod=229:550	-	-	-	het	1
2	11	6642629	G	A	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	NA	-	-	lod=229:550	-	-	-	het	2
3	11	6642682	C	A	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	rs61875879	0.007	-	-	-	-	-	het	16
4	11	6642682	C	G	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	rs61875879	0.007	-	-	-	-	-	het	10
5	11	6642745	G	C	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	rs61735329	0.00295	-	lod=55:397	-	-	-	het	1
6	11	6642757	T	-GAG	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	rs144267622	-	-	lod=55:397	-	-	-	het	6
7	11	6642835	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	rs77307773	0.0041	-	-	-	-	-	hom	1
8	11	6642835	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	rs77307773	0.0041	-	-	-	-	-	het	7
9	11	6642863	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	11	6642977	G	A	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	11	6643073	T	C	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9834A>G	p.S3278S	syn	rs201436786	-	C=2/T=8588;C=1/T=4395;C=3/T=12983	lod=167:516	-	-	-	het	1
12	11	6643303	G	A	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9604C>T	p.P3202S	non-syn	NA	-	-	lod=422:615	DAMAGING	D	-	het	1
13	11	6643349	G	C	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9558C>G	p.L3186L	syn	NA	-	C=0/G=8590;C=2/G=4400;C=2/G=12990	lod=251:560	-	-	-	het	4
14	11	6643374	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9533G>A	p.S3178N	non-syn	NA	-	-	lod=251:560	DAMAGING	B	-	het	1
15	11	6643450	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9457G>A	p.G3153S	non-syn	NA	-	-	lod=504:634	TOLERATED	B	-	het	2
16	11	6643472	A	C	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9435T>G	p.G3145G	syn	NA	-	-	lod=51:389	-	-	-	het	1
17	11	6643612	G	A	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.9295C>T	p.L3099L	syn	NA	-	-	lod=249:559	-	-	-	het	3
18	11	6643947	T	C	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.8960A>G	p.Q2987R	non-syn	NA	-	C=1/T=8581;C=0/T=4402;C=1/T=12983	lod=79:436	TOLERATED	D	-	het	1
19	11	6643976	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.8931G>A	p.Q2977Q	syn	rs7122587	0.3405	T=1707/C=6869;T=1390/C=3006;T=3097/C=9875	lod=88:448	-	-	-	hom	38
20	11	6643976	C	T	ENST00000299441	ENSG00000166341	6642556	6677085	ENSP00000299441	DCHS1	-1	PCD16_HUMAN	c.8931G>A	p.Q2977Q	syn	rs7122587	0.3405	T=1707/C=6869;T=1390/C=3006;T=3097/C=9875	lod=88:448	-	-	-	het	292

** 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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Transcripts and variants in the surrounding DCHS1 11:6642556..6677085 region Gbrowse