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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 DYSF:

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
ENSG00000135636	DYSF	0	0	202	ENSG00000135636	ENST00000409366	ENSP00000386512	dysferlin [Source:HGNC Symbol;Acc:3097]	2	71680852	71913898	1	p13.2	71693832	71913778	DYSF	DYSF-006	HGNC Symbol	HGNC transcript name	19	49.64	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	8291	3097	DYSF	NM_001130983	27508

MSeqDR Master Exome Data Set M1: 2065 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	71680947	C	A	ENST00000258104	ENSG00000135636	71680852	71913898	ENSP00000258104	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	2	71680947	C	A	ENST00000409582	ENSG00000135636	71680852	71913898	ENSP00000386547	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	2	71680947	C	A	ENST00000409762	ENSG00000135636	71680852	71913898	ENSP00000387137	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	2	71680947	C	A	ENST00000413539	ENSG00000135636	71680852	71913898	ENSP00000407046	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	2	71680947	C	A	ENST00000429174	ENSG00000135636	71680852	71913898	ENSP00000398305	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	2	71680950	C	A	ENST00000258104	ENSG00000135636	71680852	71913898	ENSP00000258104	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	het	138
7	2	71680950	C	A	ENST00000258104	ENSG00000135636	71680852	71913898	ENSP00000258104	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	hom	7
8	2	71680950	C	A	ENST00000409582	ENSG00000135636	71680852	71913898	ENSP00000386547	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	het	138
9	2	71680950	C	A	ENST00000409582	ENSG00000135636	71680852	71913898	ENSP00000386547	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	hom	7
10	2	71680950	C	A	ENST00000409762	ENSG00000135636	71680852	71913898	ENSP00000387137	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	het	138
11	2	71680950	C	A	ENST00000409762	ENSG00000135636	71680852	71913898	ENSP00000387137	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	hom	7
12	2	71680950	C	A	ENST00000413539	ENSG00000135636	71680852	71913898	ENSP00000407046	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	het	138
13	2	71680950	C	A	ENST00000413539	ENSG00000135636	71680852	71913898	ENSP00000407046	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	hom	7
14	2	71680950	C	A	ENST00000429174	ENSG00000135636	71680852	71913898	ENSP00000398305	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	het	138
15	2	71680950	C	A	ENST00000429174	ENSG00000135636	71680852	71913898	ENSP00000398305	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6741336	0.3358	-	-	-	-	-	hom	7
16	2	71693845	G	A	ENST00000394120	ENSG00000135636	71680852	71913898	ENSP00000377678	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6752632	0.3288	-	-	-	-	-	hom	30
17	2	71693845	G	A	ENST00000394120	ENSG00000135636	71680852	71913898	ENSP00000377678	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6752632	0.3288	-	-	-	-	-	het	248
18	2	71693845	G	A	ENST00000409366	ENSG00000135636	71680852	71913898	ENSP00000386512	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6752632	0.3288	-	-	-	-	-	hom	30
19	2	71693845	G	A	ENST00000409366	ENSG00000135636	71680852	71913898	ENSP00000386512	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6752632	0.3288	-	-	-	-	-	het	248
20	2	71693845	G	A	ENST00000409651	ENSG00000135636	71680852	71913898	ENSP00000386683	DYSF	1	DYSF_HUMAN	-	-	5'_UTR	rs6752632	0.3288	-	-	-	-	-	hom	30

** 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 DYSF 2:71680852..71913898 region Gbrowse