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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 KRT4:

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
ENSG00000170477	KRT4	0	0	5	ENSG00000170477	ENST00000551956	ENSP00000448220	keratin 4 [Source:HGNC Symbol;Acc:6441]	12	53200333	53208335	-1	q13.13	53200333	53208335	KRT4	KRT4-001	HGNC Symbol	HGNC transcript name	7	49.03	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	3851	6441	KRT4		27519

MSeqDR Master Exome Data Set M1: 205 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	53200584	T	C	ENST00000293774	ENSG00000170477	53200333	53208335	ENSP00000293774	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	het	51
2	12	53200584	T	C	ENST00000293774	ENSG00000170477	53200333	53208335	ENSP00000293774	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	hom	138
3	12	53200584	T	C	ENST00000458244	ENSG00000170477	53200333	53208335	ENSP00000387904	KRT4	-1	-	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	het	51
4	12	53200584	T	C	ENST00000458244	ENSG00000170477	53200333	53208335	ENSP00000387904	KRT4	-1	-	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	hom	138
5	12	53200584	T	C	ENST00000548097	ENSG00000170477	53200333	53208335	ENSP00000449755	KRT4	-1	-	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	het	51
6	12	53200584	T	C	ENST00000548097	ENSG00000170477	53200333	53208335	ENSP00000449755	KRT4	-1	-	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	hom	138
7	12	53200584	T	C	ENST00000551956	ENSG00000170477	53200333	53208335	ENSP00000448220	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	het	51
8	12	53200584	T	C	ENST00000551956	ENSG00000170477	53200333	53208335	ENSP00000448220	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	rs2035879	0.82495	-	-	-	-	Oral white sponge nevus	hom	138
9	12	53200748	T	A	ENST00000293774	ENSG00000170477	53200333	53208335	ENSP00000293774	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	12	53200748	T	A	ENST00000458244	ENSG00000170477	53200333	53208335	ENSP00000387904	KRT4	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	12	53200748	T	A	ENST00000548097	ENSG00000170477	53200333	53208335	ENSP00000449755	KRT4	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	12	53200748	T	A	ENST00000551956	ENSG00000170477	53200333	53208335	ENSP00000448220	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	12	53200772	A	T	ENST00000293774	ENSG00000170477	53200333	53208335	ENSP00000293774	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	12	53200772	A	T	ENST00000458244	ENSG00000170477	53200333	53208335	ENSP00000387904	KRT4	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	12	53200772	A	T	ENST00000548097	ENSG00000170477	53200333	53208335	ENSP00000449755	KRT4	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	12	53200772	A	T	ENST00000551956	ENSG00000170477	53200333	53208335	ENSP00000448220	KRT4	-1	K2C4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	12	53200921	C	G	ENST00000293774	ENSG00000170477	53200333	53208335	ENSP00000293774	KRT4	-1	K2C4_HUMAN	c.1717G>C	p.G573R	non-syn	rs190897990	0.0022	G=5/C=8471;G=0/C=4226;G=5/C=12697	lod=14:251	DAMAGING	NA	-	het	1
18	12	53200921	C	G	ENST00000458244	ENSG00000170477	53200333	53208335	ENSP00000387904	KRT4	-1	-	c.1435G>C	p.G479R	non-syn	rs190897990	0.0022	G=5/C=8471;G=0/C=4226;G=5/C=12697	lod=14:251	DAMAGING	NA	-	het	1
19	12	53200921	C	G	ENST00000548097	ENSG00000170477	53200333	53208335	ENSP00000449755	KRT4	-1	-	-	-	3'_UTR	rs190897990	0.0022	G=5/C=8471;G=0/C=4226;G=5/C=12697	lod=14:251	DAMAGING	NA	-	het	1
20	12	53200921	C	G	ENST00000551956	ENSG00000170477	53200333	53208335	ENSP00000448220	KRT4	-1	K2C4_HUMAN	c.1495G>C	p.G499R	non-syn	rs190897990	0.0022	G=5/C=8471;G=0/C=4226;G=5/C=12697	lod=14:251	DAMAGING	NA	-	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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding KRT4 12:53200333..53208335 region Gbrowse