MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 ENSG00000187242:

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
ENSG00000187242	KRT12	0	0	21	ENSG00000187242	ENST00000251643	ENSP00000251643	keratin 12 [Source:HGNC Symbol;Acc:6414]	17	39017555	39023462	-1	q21.2	39017555	39023462	KRT12	KRT12-001	HGNC Symbol	HGNC transcript name	1	43.25	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3859	6414	KRT12	NM_000223	27509

MSeqDR Master Exome Data Set M1: 21 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	39017848	A	T	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	17	39017945	A	T	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.1453T>A	p.S485T	non-syn	NA	-	-	lod=218:545	TOLERATED	NA	-	het	1
3	17	39017974	T	C	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.1424A>G	p.Q475R	non-syn	rs150149178	-	C=19/T=8581;C=0/T=4406;C=19/T=12987	lod=218:545	DAMAGING	P	-	het	2
4	17	39018813	A	G	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	-	-	+4bp 5'_splice_site	NA	-	-	-	-	-	-	het	6
5	17	39018906	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	-	-	-19bp 3'_splice_site	NA	-	-	-	-	-	-	het	3
6	17	39020022	A	G	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.902T>C	p.M301T	non-syn	rs139647784	-	G=24/A=8576;G=3/A=4403;G=27/A=12979	lod=115:476	DAMAGING	D	-	het	3
7	17	39020028	T	C	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.896A>G	p.N299S	non-syn	rs200497999	-	-	lod=115:476	TOLERATED	P	-	het	3
8	17	39020133	A	T	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	-	-	-17bp 3'_splice_site	NA	-	T=24/A=8566;T=3/A=4387;T=27/A=12953	-	-	-	-	het	2
9	17	39021124	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.741C>T	p.T247T	syn	rs61735166	-	A=1/G=8599;A=24/G=4382;A=25/G=12981	-	-	-	-	het	1
10	17	39021137	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.728C>T	p.T243I	non-syn	rs61735165	-	A=11/G=8589;A=1/G=4405;A=12/G=12994	lod=143:500	DAMAGING	P	-	het	2
11	17	39021201	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.664C>T	p.L222L	syn	rs200506470	-	A=13/G=8587;A=0/G=4406;A=13/G=12993	lod=60:407	-	-	-	het	2
12	17	39022440	T	C	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.617A>G	p.N206S	non-syn	rs147584242	-	C=20/T=8580;C=4/T=4402;C=24/T=12982	lod=65:415	DAMAGING	D	-	het	10
13	17	39022440	T	C	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.617A>G	p.N206S	non-syn	rs147584242	-	C=20/T=8580;C=4/T=4402;C=24/T=12982	lod=65:415	DAMAGING	D	-	hom	2
14	17	39022462	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.595C>T	p.Q199*	non-syn	NA	-	-	lod=64:414	TOLERATED	NA	-	het	2
15	17	39023022	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.417C>T	p.Y139Y	syn	rs140356245	-	A=1/G=8599;A=1/G=4405;A=2/G=13004	lod=362:599	-	-	-	het	1
16	17	39023057	T	C	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.382A>G	p.T128A	non-syn	rs149532038	0.00091	-	lod=362:599	TOLERATED	P	-	het	2
17	17	39023215	C	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.224G>T	p.S75I	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
18	17	39023381	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.58C>T	p.R20W	non-syn	rs17566772	0.09443	A=722/G=7878;A=113/G=4293;A=835/G=12171	-	DAMAGING	NA	-	het	135
19	17	39023381	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.58C>T	p.R20W	non-syn	rs17566772	0.09443	A=722/G=7878;A=113/G=4293;A=835/G=12171	-	DAMAGING	NA	-	hom	7
20	17	39023396	G	A	ENST00000251643	ENSG00000187242	39017555	39023462	ENSP00000251643	KRT12	-1	K1C12_HUMAN	c.43C>T	p.P15S	non-syn	rs11650915	0.485	A=3050/G=5550;A=478/G=3928;A=3528/G=9478	-	TOLERATED	NA	-	het	385

** 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**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding KRT12 17:39017555..39023462 region Gbrowse