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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 PTCH2:

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
ENSG00000117425	PTCH2	0	0	4	ENSG00000117425	ENST00000438067	ENSP00000413169	patched 2 [Source:HGNC Symbol;Acc:9586]	1	45285516	45308735	-1	p34.1	45285516	45288932	PTCH2	PTCH2-002	HGNC Symbol	HGNC transcript name	3	53.14	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	8643	9586	PTCH2		27511

MSeqDR Master Exome Data Set M1: 218 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	1	45285518	T	G	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	1	45285518	T	G	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	1	45285519	G	T	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	1	45285519	G	T	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	1	45285526	G	A	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	1	45285526	G	A	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	1	45285534	A	C	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	rs181782534	0.01089	-	-	-	-	-	het	12
8	1	45285534	A	C	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	rs181782534	0.01089	-	-	-	-	-	het	12
9	1	45285535	C	T	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
10	1	45285535	C	T	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
11	1	45285535	C	T	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
12	1	45285535	C	T	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
13	1	45285544	C	T	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	rs138929510	0.00092	-	-	-	-	-	het	3
14	1	45285544	C	T	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	rs138929510	0.00092	-	-	-	-	-	het	3
15	1	45285552	T	C	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	rs142939610	0.00907	-	-	-	-	-	het	8
16	1	45285552	T	C	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	rs142939610	0.00907	-	-	-	-	-	het	8
17	1	45285556	G	C	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
18	1	45285556	G	C	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
19	1	45285562	G	A	ENST00000438067	ENSG00000117425	45285516	45308735	ENSP00000413169	PTCH2	-1	-	-	-	3'_UTR	rs116205686	0.0367	-	-	-	-	-	het	6
20	1	45285562	G	A	ENST00000447098	ENSG00000117425	45285516	45308735	ENSP00000389703	PTCH2	-1	PTC2_HUMAN	-	-	3'_UTR	rs116205686	0.0367	-	-	-	-	-	het	6

** 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 PTCH2 1:45285516..45308735 region Gbrowse