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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 KERA:

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
ENSG00000139330	KERA	0	0	8	ENSG00000139330	ENST00000266719	ENSP00000266719	keratocan [Source:HGNC Symbol;Acc:6309]	12	91444268	91451760	-1	q21.33	91444268	91451760	KERA	KERA-001	HGNC Symbol	HGNC transcript name	1	34.69	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	11081	6309	KERA	NM_007035	27519

MSeqDR Master Exome Data Set M1: 31 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	12	91444331	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs10859100	0.21	-	-	-	-	-	het	6
2	12	91444331	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs10859100	0.21	-	-	-	-	-	hom	2
3	12	91444364	A	G	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs11105951	0.1276	-	-	-	-	-	het	8
4	12	91444364	A	G	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs11105951	0.1276	-	-	-	-	-	hom	2
5	12	91444374	T	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs181050368	0.004	-	-	-	-	-	het	2
6	12	91444397	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs7973611	0.3174	-	-	-	-	-	hom	7
7	12	91444397	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs7973611	0.3174	-	-	-	-	-	het	35
8	12	91444445	C	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs10859101	0.2304	-	-	-	-	-	het	26
9	12	91444445	C	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs10859101	0.2304	-	-	-	-	-	hom	3
10	12	91444725	A	C	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs7973791	0.3138	-	-	-	-	-	het	33
11	12	91444725	A	C	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs7973791	0.3138	-	-	-	-	-	hom	4
12	12	91444764	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs11105953	0.1542	-	-	-	-	-	hom	2
13	12	91444764	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs11105953	0.1542	-	-	-	-	-	het	22
14	12	91444892	C	T	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs11105954	0.1587	-	-	-	-	-	het	24
15	12	91444892	C	T	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	rs11105954	0.1587	-	-	-	-	-	hom	2
16	12	91445083	A	G	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	12	91445303	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	-8bp 3'_splice_site	rs2701166	0.24047	A=2144/G=6454;A=346/G=4060;A=2490/G=10514	-	-	-	-	het	230
18	12	91445303	G	A	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	-	-	-8bp 3'_splice_site	rs2701166	0.24047	A=2144/G=6454;A=346/G=4060;A=2490/G=10514	-	-	-	-	hom	37
19	12	91449418	T	C	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	c.641A>G	p.N214S	non-syn	NA	-	-	lod=125:485	TOLERATED	B	-	het	1
20	12	91449510	A	G	ENST00000266719	ENSG00000139330	91444268	91451760	ENSP00000266719	KERA	-1	KERA_HUMAN	c.549T>C	p.F183F	syn	rs145384644	0.0014	G=18/A=8578;G=1/A=4405;G=19/A=12983	lod=126:486	-	-	-	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,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding KERA 12:91444268..91451760 region Gbrowse