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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 PTCH1:

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
ENSG00000185920	PTCH1	0	0	235	ENSG00000185920	ENST00000546820	ENSP00000448843	patched 1 [Source:HGNC Symbol;Acc:9585]	9	98205262	98279339	-1	q22.32	98242343	98270322	PTCH1	PTCH1-010	HGNC Symbol	HGNC transcript name	27	47.49	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5727	9585	PTCH1		27518

MSeqDR Master Exome Data Set M1: 925 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	9	98205645	T	C	ENST00000331920	ENSG00000185920	98205262	98279339	ENSP00000332353	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	het	16
2	9	98205645	T	C	ENST00000331920	ENSG00000185920	98205262	98279339	ENSP00000332353	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	hom	4
3	9	98205645	T	C	ENST00000418258	ENSG00000185920	98205262	98279339	ENSP00000396135	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	het	16
4	9	98205645	T	C	ENST00000418258	ENSG00000185920	98205262	98279339	ENSP00000396135	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	hom	4
5	9	98205645	T	C	ENST00000421141	ENSG00000185920	98205262	98279339	ENSP00000399981	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	het	16
6	9	98205645	T	C	ENST00000421141	ENSG00000185920	98205262	98279339	ENSP00000399981	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	hom	4
7	9	98205645	T	C	ENST00000437951	ENSG00000185920	98205262	98279339	ENSP00000389744	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	het	16
8	9	98205645	T	C	ENST00000437951	ENSG00000185920	98205262	98279339	ENSP00000389744	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	rs28485160	0.3132	-	-	-	-	-	hom	4
9	9	98205665	G	-A	ENST00000331920	ENSG00000185920	98205262	98279339	ENSP00000332353	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	9	98205665	G	-A	ENST00000418258	ENSG00000185920	98205262	98279339	ENSP00000396135	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	9	98205665	G	-A	ENST00000421141	ENSG00000185920	98205262	98279339	ENSP00000399981	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	9	98205665	G	-A	ENST00000437951	ENSG00000185920	98205262	98279339	ENSP00000389744	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	9	98206031	T	G	ENST00000331920	ENSG00000185920	98205262	98279339	ENSP00000332353	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1
14	9	98206031	T	G	ENST00000375290	ENSG00000185920	98205262	98279339	ENSP00000364439	PTCH1	-1	-	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1
15	9	98206031	T	G	ENST00000418258	ENSG00000185920	98205262	98279339	ENSP00000396135	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1
16	9	98206031	T	G	ENST00000421141	ENSG00000185920	98205262	98279339	ENSP00000399981	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1
17	9	98206031	T	G	ENST00000430669	ENSG00000185920	98205262	98279339	ENSP00000410287	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1
18	9	98206031	T	G	ENST00000437951	ENSG00000185920	98205262	98279339	ENSP00000389744	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1
19	9	98206031	T	G	ENST00000546744	ENSG00000185920	98205262	98279339	-	PTCH1	-1	-	c.4052A>C	p.*1351S	non-syn	NA	-	-	lod=1465:748	-	-	-	het	1
20	9	98206086	T	C	ENST00000331920	ENSG00000185920	98205262	98279339	ENSP00000332353	PTCH1	-1	PTC1_HUMAN	-	-	3'_UTR	NA	-	-	lod=1465:748	-	-	-	het	1

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Transcripts and variants in the surrounding PTCH1 9:98205262..98279339 region Gbrowse