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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 PTPRC:

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
ENSG00000081237	PTPRC	0	0	8	ENSG00000081237	ENST00000442510	ENSP00000411355	protein tyrosine phosphatase, receptor type, C [Source:HGNC Symbol;Acc:9666]	1	198607801	198726545	1	q31.3	198608170	198726412	PTPRC	PTPRC-001	HGNC Symbol	HGNC transcript name	18	34.25	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5788	9666	PTPRC		27511
ENSG00000262418	PTPRC	0	0	8	ENSG00000262418	ENST00000573298	ENSP00000458846	protein tyrosine phosphatase, receptor type, C [Source:HGNC Symbol;Acc:9666]	HSCHR1_3_CTG31	198619288	198737899	1	q31.3	198619288	198688773	PTPRC	PTPRC-011	HGNC Symbol	HGNC transcript name	14	34.25	protein_coding	protein_coding	havana	havana	KNOWN	KNOWN	5788	9666	PTPRC		1000057046

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MSeqDR Master Exome Data Set M1: 522 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	198608242	C	T	ENST00000348564	ENSG00000081237	198607801	198726545	ENSP00000306782	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
2	1	198608242	C	T	ENST00000352140	ENSG00000081237	198607801	198726545	ENSP00000193532	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
3	1	198608242	C	T	ENST00000367364	ENSG00000081237	198607801	198726545	ENSP00000356334	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
4	1	198608242	C	T	ENST00000367367	ENSG00000081237	198607801	198726545	ENSP00000356337	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
5	1	198608242	C	T	ENST00000367376	ENSG00000081237	198607801	198726545	ENSP00000356346	PTPRC	1	PTPRC_HUMAN	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
6	1	198608242	C	T	ENST00000413409	ENSG00000081237	198607801	198726545	ENSP00000405494	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
7	1	198608242	C	T	ENST00000442510	ENSG00000081237	198607801	198726545	ENSP00000411355	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
8	1	198608242	C	T	ENST00000462363	ENSG00000081237	198607801	198726545	-	PTPRC	1	-	c.40C>T	p.L14F	non-syn	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
9	1	198608242	C	T	ENST00000529828	ENSG00000081237	198607801	198726545	ENSP00000469141	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
10	1	198608242	C	T	ENST00000530727	ENSG00000081237	198607801	198726545	ENSP00000433536	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
11	1	198608242	C	T	ENST00000594404	ENSG00000081237	198607801	198726545	ENSP00000471843	PTPRC	1	PTPRC_HUMAN	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
12	1	198608242	C	T	ENST00000598951	ENSG00000081237	198607801	198726545	ENSP00000471810	PTPRC	1	-	-	-	5'_UTR	rs2274366	0.0646	-	lod=112:473	-	-	-	het	9
13	1	198608245	G	A	ENST00000348564	ENSG00000081237	198607801	198726545	ENSP00000306782	PTPRC	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
14	1	198608245	G	A	ENST00000352140	ENSG00000081237	198607801	198726545	ENSP00000193532	PTPRC	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
15	1	198608245	G	A	ENST00000367364	ENSG00000081237	198607801	198726545	ENSP00000356334	PTPRC	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
16	1	198608245	G	A	ENST00000367367	ENSG00000081237	198607801	198726545	ENSP00000356337	PTPRC	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
17	1	198608245	G	A	ENST00000367376	ENSG00000081237	198607801	198726545	ENSP00000356346	PTPRC	1	PTPRC_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
18	1	198608245	G	A	ENST00000413409	ENSG00000081237	198607801	198726545	ENSP00000405494	PTPRC	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
19	1	198608245	G	A	ENST00000442510	ENSG00000081237	198607801	198726545	ENSP00000411355	PTPRC	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
20	1	198608245	G	A	ENST00000462363	ENSG00000081237	198607801	198726545	-	PTPRC	1	-	c.43G>A	p.V15I	non-syn	NA	-	-	-	-	-	-	het	2

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Transcripts and variants in the surrounding PTPRC 1:198607801..198726545 region Gbrowse