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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 PSAP:

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
ENSG00000197746	PSAP	1	2	10	ENSG00000197746	ENST00000394936	ENSP00000378394	prosaposin [Source:HGNC Symbol;Acc:9498]	10	73576055	73611126	-1	q22.1	73576055	73611126	PSAP	PSAP-001	HGNC Symbol	HGNC transcript name	4	47.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5660	9498	PSAP		27525

MSeqDR Master Exome Data Set M1: 110 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	10	73576307	C	T	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	rs7869	0.5012	-	-	-	-	-	hom	81
2	10	73576307	C	T	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	rs7869	0.5012	-	-	-	-	-	het	335
3	10	73576307	C	T	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	rs7869	0.5012	-	-	-	-	-	hom	81
4	10	73576307	C	T	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	rs7869	0.5012	-	-	-	-	-	het	335
5	10	73576423	C	T	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	rs79662404	0.0485	-	-	-	-	-	het	2
6	10	73576423	C	T	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	rs79662404	0.0485	-	-	-	-	-	het	2
7	10	73576426	G	A	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	10	73576426	G	A	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	10	73576461	C	T	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	rs147046509	0.0086	-	-	-	-	-	het	1
10	10	73576461	C	T	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	rs147046509	0.0086	-	-	-	-	-	het	1
11	10	73576544	C	A	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	rs41282246	-	-	-	-	-	-	het	1
12	10	73576544	C	A	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	rs41282246	-	-	-	-	-	-	het	1
13	10	73576768	G	A	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	10	73576768	G	A	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	10	73576822	T	C	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	rs141906397	0.008	-	-	-	-	-	het	1
16	10	73576822	T	C	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	rs141906397	0.008	-	-	-	-	-	het	1
17	10	73577028	G	A	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	10	73577028	G	A	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	10	73577032	C	-T	ENST00000394934	ENSG00000197746	73576055	73611126	ENSP00000378392	PSAP	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	10	73577032	C	-T	ENST00000394936	ENSG00000197746	73576055	73611126	ENSP00000378394	PSAP	-1	SAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** 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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Transcripts and variants in the surrounding PSAP 10:73576055..73611126 region Gbrowse