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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 KRT13:

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
ENSG00000171401	KRT13	0	0	6	ENSG00000171401	ENST00000246635	ENSP00000246635	keratin 13 [Source:HGNC Symbol;Acc:6415]	17	39657233	39661957	-1	q21.2	39657233	39661849	KRT13	KRT13-001	HGNC Symbol	HGNC transcript name	9	54.1	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3860	6415	KRT13	NM_153490	27509

MSeqDR Master Exome Data Set M1: 261 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	17	39657240	G	A	ENST00000246635	ENSG00000171401	39657233	39661957	ENSP00000246635	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs188347004	0.00092	-	lod=13:243	-	-	-	het	1
2	17	39657240	G	A	ENST00000336861	ENSG00000171401	39657233	39661957	ENSP00000336604	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs188347004	0.00092	-	lod=13:243	-	-	-	het	1
3	17	39657240	G	A	ENST00000475217	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.485C>T	p.A162V	non-syn	rs188347004	0.00092	-	lod=13:243	-	-	-	het	1
4	17	39657337	C	A	ENST00000246635	ENSG00000171401	39657233	39661957	ENSP00000246635	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs903	0.62643	-	-	-	-	-	het	312
5	17	39657337	C	A	ENST00000246635	ENSG00000171401	39657233	39661957	ENSP00000246635	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs903	0.62643	-	-	-	-	-	hom	250
6	17	39657337	C	A	ENST00000336861	ENSG00000171401	39657233	39661957	ENSP00000336604	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs903	0.62643	-	-	-	-	-	het	312
7	17	39657337	C	A	ENST00000336861	ENSG00000171401	39657233	39661957	ENSP00000336604	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs903	0.62643	-	-	-	-	-	hom	250
8	17	39657337	C	A	ENST00000468313	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.1740G>T	p.P580P	syn	rs903	0.62643	-	-	-	-	-	het	312
9	17	39657337	C	A	ENST00000468313	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.1740G>T	p.P580P	syn	rs903	0.62643	-	-	-	-	-	hom	250
10	17	39657337	C	A	ENST00000475217	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.388G>T	p.G130C	non-syn	rs903	0.62643	-	-	-	-	-	het	312
11	17	39657337	C	A	ENST00000475217	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.388G>T	p.G130C	non-syn	rs903	0.62643	-	-	-	-	-	hom	250
12	17	39657338	G	A	ENST00000246635	ENSG00000171401	39657233	39661957	ENSP00000246635	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs3169911	0.0784	-	-	-	-	-	het	58
13	17	39657338	G	A	ENST00000336861	ENSG00000171401	39657233	39661957	ENSP00000336604	KRT13	-1	K1C13_HUMAN	-	-	3'_UTR	rs3169911	0.0784	-	-	-	-	-	het	58
14	17	39657338	G	A	ENST00000468313	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.1739C>T	p.P580L	non-syn	rs3169911	0.0784	-	-	-	-	-	het	58
15	17	39657338	G	A	ENST00000475217	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.387C>T	p.S129S	syn	rs3169911	0.0784	-	-	-	-	-	het	58
16	17	39657599	C	T	ENST00000246635	ENSG00000171401	39657233	39661957	ENSP00000246635	KRT13	-1	K1C13_HUMAN	c.1286G>A	p.R429H	non-syn	rs150321809	-	T=20/C=8560;T=2/C=4382;T=22/C=12942	-	TOLERATED	B	-	het	5
17	17	39657599	C	T	ENST00000336861	ENSG00000171401	39657233	39661957	ENSP00000336604	KRT13	-1	K1C13_HUMAN	c.1260G>A	p.P420P	syn	rs150321809	-	T=20/C=8560;T=2/C=4382;T=22/C=12942	-	TOLERATED	B	-	het	5
18	17	39657599	C	T	ENST00000468313	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.1478G>A	p.R493H	non-syn	rs150321809	-	T=20/C=8560;T=2/C=4382;T=22/C=12942	-	TOLERATED	B	-	het	5
19	17	39657599	C	T	ENST00000475217	ENSG00000171401	39657233	39661957	-	KRT13	-1	-	c.126G>A	p.P42P	syn	rs150321809	-	T=20/C=8560;T=2/C=4382;T=22/C=12942	-	TOLERATED	B	-	het	5
20	17	39657608	A	+C	ENST00000246635	ENSG00000171401	39657233	39661957	ENSP00000246635	KRT13	-1	K1C13_HUMAN	c.1276_1277insG	p.V426NA	non-syn	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 KRT13 17:39657233..39661957 region Gbrowse