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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 PRSS12:

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
ENSG00000164099	PRSS12	0	0	19	ENSG00000164099	ENST00000296498	ENSP00000296498	protease, serine, 12 (neurotrypsin, motopsin) [Source:HGNC Symbol;Acc:9477]	4	119201193	119274158	-1	q26	119201193	119274158	PRSS12	PRSS12-001	HGNC Symbol	HGNC transcript name	4	36.51	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8492	9477	PRSS12	NM_003619	27524

MSeqDR Master Exome Data Set M1: 76 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	4	119201476	G	A	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs150249635	0.00645	-	-	-	-	-	het	9
2	4	119201496	T	C	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs145858385	0.01091	-	-	-	-	-	het	35
3	4	119201496	T	C	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs145858385	0.01091	-	-	-	-	-	hom	1
4	4	119201531	G	-T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs72524673	-	-	-	-	-	-	het	1
5	4	119201531	G	-TT	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs3083027	-	-	-	-	-	-	het	313
6	4	119201531	G	-TT	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs3083027	-	-	-	-	-	-	hom	100
7	4	119201587	C	T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs1045817	0.13752	-	-	-	-	-	het	143
8	4	119201587	C	T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs1045817	0.13752	-	-	-	-	-	hom	9
9	4	119201834	A	G	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs10015461	0.0069	-	-	-	-	-	het	2
10	4	119201906	A	G	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	4	119201937	G	-A	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	4	119201958	C	A	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs9995351	0.0057	-	-	-	-	-	het	2
13	4	119202171	C	G	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	4	119202179	C	T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs10212745	0.0128	-	-	-	-	-	het	3
15	4	119202284	C	T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs17516164	0.06827	-	-	-	-	-	het	103
16	4	119202284	C	T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs17516164	0.06827	-	-	-	-	-	hom	2
17	4	119202447	T	C	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs143655328	0.0042	-	-	-	-	-	het	2
18	4	119202672	T	C	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs28445259	0.0056	-	-	-	-	-	het	2
19	4	119202763	G	T	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	4	119202823	A	-TAGG	ENST00000296498	ENSG00000164099	119201193	119274158	ENSP00000296498	PRSS12	-1	NETR_HUMAN	-	-	3'_UTR	rs34905690	-	-	-	-	-	-	het	9

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Transcripts and variants in the surrounding PRSS12 4:119201193..119274158 region Gbrowse