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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 PTPRZ1:

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
ENSG00000106278	PTPRZ1	0	0	1	ENSG00000106278	ENST00000393386	ENSP00000377047	protein tyrosine phosphatase, receptor-type, Z polypeptide 1 [Source:HGNC Symbol;Acc:9685]	7	121513143	121702090	1	q31.32	121513143	121702090	PTPRZ1	PTPRZ1-001	HGNC Symbol	HGNC transcript name	9	35.6	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5803	9685	PTPRZ1	NM_001206838	27506

MSeqDR Master Exome Data Set M1: 179 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	7	121513146	A	C	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	rs2402591	0.172	-	-	-	-	-	hom	16
2	7	121513146	A	C	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	rs2402591	0.172	-	-	-	-	-	het	135
3	7	121513208	A	G	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	rs185791344	0.0269	-	lod=17:272	-	-	-	het	5
4	7	121513263	G	A	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	rs79358053	0.2083	-	-	-	-	-	het	22
5	7	121513263	G	A	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.49G>A	p.E17K	non-syn	rs79358053	0.2083	-	-	-	-	-	het	22
6	7	121513317	C	G	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	rs73434994	0.2637	-	-	-	-	-	het	24
7	7	121513317	C	G	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	rs73434994	0.2637	-	-	-	-	-	hom	1
8	7	121513317	C	G	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.103C>G	p.Q35E	non-syn	rs73434994	0.2637	-	-	-	-	-	het	24
9	7	121513317	C	G	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.103C>G	p.Q35E	non-syn	rs73434994	0.2637	-	-	-	-	-	hom	1
10	7	121513369	G	+TC	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
11	7	121513369	G	+TC	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
12	7	121513369	G	+TC	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.155_156insTC	p.C52NA	non-syn	NA	-	-	-	-	-	-	het	4
13	7	121513369	G	+TC	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.155_156insTC	p.C52NA	non-syn	NA	-	-	-	-	-	-	hom	1
14	7	121513380	T	-CTCA	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
15	7	121513380	T	-CTCA	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.167_170del	p.S56NA	non-syn	NA	-	-	-	-	-	-	het	1
16	7	121513382	T	-CACA	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
17	7	121513382	T	+CACA	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
18	7	121513382	T	+CACA	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.168_169insCACA	p.H57NA	non-syn	NA	-	-	-	-	-	-	het	2
19	7	121513382	T	-CACA	ENST00000471837	ENSG00000106278	121513143	121702090	-	PTPRZ1	1	-	c.169_172del	p.H57NA	non-syn	NA	-	-	-	-	-	-	het	5
20	7	121513382	T	-CA	ENST00000393386	ENSG00000106278	121513143	121702090	ENSP00000377047	PTPRZ1	1	PTPRZ_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	112

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Transcripts and variants in the surrounding PTPRZ1 7:121513143..121702090 region Gbrowse