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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 ITCH:

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
ENSG00000078747	ITCH	0	0	2	ENSG00000078747	ENST00000374864	ENSP00000363998	itchy E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:13890]	20	32951041	33099198	1	q11.22	32951041	33099198	ITCH	ITCH-001	HGNC Symbol	HGNC transcript name	7	40.53	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	83737	13890	ITCH	NM_001257137	27522

MSeqDR Master Exome Data Set M1: 105 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	20	32957216	G	A	ENST00000262650	ENSG00000078747	32951041	33099198	ENSP00000262650	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3746455	0.52636	-	lod=146:502	-	-	-	het	89
2	20	32957216	G	A	ENST00000262650	ENSG00000078747	32951041	33099198	ENSP00000262650	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3746455	0.52636	-	lod=146:502	-	-	-	hom	43
3	20	32957216	G	A	ENST00000374864	ENSG00000078747	32951041	33099198	ENSP00000363998	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3746455	0.52636	-	lod=146:502	-	-	-	het	89
4	20	32957216	G	A	ENST00000374864	ENSG00000078747	32951041	33099198	ENSP00000363998	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3746455	0.52636	-	lod=146:502	-	-	-	hom	43
5	20	32957216	G	A	ENST00000479215	ENSG00000078747	32951041	33099198	-	ITCH	1	-	c.72G>A	p.T24T	syn	rs3746455	0.52636	-	lod=146:502	-	-	-	het	89
6	20	32957216	G	A	ENST00000479215	ENSG00000078747	32951041	33099198	-	ITCH	1	-	c.72G>A	p.T24T	syn	rs3746455	0.52636	-	lod=146:502	-	-	-	hom	43
7	20	32957216	G	A	ENST00000486883	ENSG00000078747	32951041	33099198	-	ITCH	1	-	c.126G>A	p.T42T	syn	rs3746455	0.52636	-	lod=146:502	-	-	-	het	89
8	20	32957216	G	A	ENST00000486883	ENSG00000078747	32951041	33099198	-	ITCH	1	-	c.126G>A	p.T42T	syn	rs3746455	0.52636	-	lod=146:502	-	-	-	hom	43
9	20	32957216	G	A	ENST00000535650	ENSG00000078747	32951041	33099198	ENSP00000445608	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3746455	0.52636	-	lod=146:502	-	-	-	het	89
10	20	32957216	G	A	ENST00000535650	ENSG00000078747	32951041	33099198	ENSP00000445608	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3746455	0.52636	-	lod=146:502	-	-	-	hom	43
11	20	32981559	A	-T	ENST00000486883	ENSG00000078747	32951041	33099198	-	ITCH	1	-	-	-	-16bp 3'_splice_site	NA	-	-	lod=28:325	-	-	-	het	2
12	20	33000354	T	C	ENST00000262650	ENSG00000078747	32951041	33099198	ENSP00000262650	ITCH	1	ITCH_HUMAN	c.246T>C	p.R82R	syn	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	het	7
13	20	33000354	T	C	ENST00000262650	ENSG00000078747	32951041	33099198	ENSP00000262650	ITCH	1	ITCH_HUMAN	c.246T>C	p.R82R	syn	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	hom	1
14	20	33000354	T	C	ENST00000374864	ENSG00000078747	32951041	33099198	ENSP00000363998	ITCH	1	ITCH_HUMAN	c.246T>C	p.R82R	syn	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	het	7
15	20	33000354	T	C	ENST00000374864	ENSG00000078747	32951041	33099198	ENSP00000363998	ITCH	1	ITCH_HUMAN	c.246T>C	p.R82R	syn	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	hom	1
16	20	33000354	T	C	ENST00000486883	ENSG00000078747	32951041	33099198	-	ITCH	1	-	c.474T>C	p.R158R	syn	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	het	7
17	20	33000354	T	C	ENST00000486883	ENSG00000078747	32951041	33099198	-	ITCH	1	-	c.474T>C	p.R158R	syn	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	hom	1
18	20	33000354	T	C	ENST00000535650	ENSG00000078747	32951041	33099198	ENSP00000445608	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	het	7
19	20	33000354	T	C	ENST00000535650	ENSG00000078747	32951041	33099198	ENSP00000445608	ITCH	1	ITCH_HUMAN	-	-	5'_UTR	rs3761146	0.0775	C=1/T=8597;C=4/T=4400;C=5/T=12997	lod=683:667	-	-	-	hom	1
20	20	33001675	A	G	ENST00000262650	ENSG00000078747	32951041	33099198	ENSP00000262650	ITCH	1	ITCH_HUMAN	c.465A>G	p.T155T	syn	NA	-	-	lod=186:528	-	-	-	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 ITCH 20:32951041..33099198 region Gbrowse