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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 SPINK5:

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
ENSG00000133710	SPINK5	0	0	17	ENSG00000133710	ENST00000521206	ENSP00000430264	serine peptidase inhibitor, Kazal type 5 [Source:HGNC Symbol;Acc:15464]	5	147405246	147516852	1	q32	147405246	147451764	SPINK5	SPINK5-011	HGNC Symbol	HGNC transcript name	9	35.55	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	11005	15464	SPINK5		27527

MSeqDR Master Exome Data Set M1: 495 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	5	147443443	G	A	ENST00000521206	ENSG00000133710	147405246	147516852	ENSP00000430264	SPINK5	1	-	-	-	5'_UTR	rs2287773	0.02186	-	-	-	-	-	het	36
2	5	147443443	G	A	ENST00000521206	ENSG00000133710	147405246	147516852	ENSP00000430264	SPINK5	1	-	-	-	5'_UTR	rs2287773	0.02186	-	-	-	-	-	hom	1
3	5	147443468	C	T	ENST00000521206	ENSG00000133710	147405246	147516852	ENSP00000430264	SPINK5	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	5	147443547	A	C	ENST00000359874	ENSG00000133710	147405246	147516852	ENSP00000352936	SPINK5	1	ISK5_HUMAN	-	-	5'_UTR	rs74572734	0.1073	C=3/A=3179;C=191/A=1193;C=194/A=4372	-	-	-	-	het	12
5	5	147443547	A	C	ENST00000398454	ENSG00000133710	147405246	147516852	ENSP00000381472	SPINK5	1	ISK5_HUMAN	-	-	5'_UTR	rs74572734	0.1073	C=3/A=3179;C=191/A=1193;C=194/A=4372	-	-	-	-	het	12
6	5	147443547	A	C	ENST00000476697	ENSG00000133710	147405246	147516852	ENSP00000427943	SPINK5	1	-	-	-	5'_UTR	rs74572734	0.1073	C=3/A=3179;C=191/A=1193;C=194/A=4372	-	-	-	-	het	12
7	5	147443547	A	C	ENST00000507988	ENSG00000133710	147405246	147516852	-	SPINK5	1	-	c.1A>C	p.I1L	non-syn	rs74572734	0.1073	C=3/A=3179;C=191/A=1193;C=194/A=4372	-	-	-	-	het	12
8	5	147443547	A	C	ENST00000508733	ENSG00000133710	147405246	147516852	ENSP00000421519	SPINK5	1	-	-	-	5'_UTR	rs74572734	0.1073	C=3/A=3179;C=191/A=1193;C=194/A=4372	-	-	-	-	het	12
9	5	147443547	A	C	ENST00000521206	ENSG00000133710	147405246	147516852	ENSP00000430264	SPINK5	1	-	-	-	5'_UTR	rs74572734	0.1073	C=3/A=3179;C=191/A=1193;C=194/A=4372	-	-	-	-	het	12
10	5	147443589	G	A	ENST00000256084	ENSG00000133710	147405246	147516852	ENSP00000256084	SPINK5	1	ISK5_HUMAN	-	-	5'_UTR	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
11	5	147443589	G	A	ENST00000359874	ENSG00000133710	147405246	147516852	ENSP00000352936	SPINK5	1	ISK5_HUMAN	-	-	5'_UTR	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
12	5	147443589	G	A	ENST00000398454	ENSG00000133710	147405246	147516852	ENSP00000381472	SPINK5	1	ISK5_HUMAN	-	-	5'_UTR	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
13	5	147443589	G	A	ENST00000476697	ENSG00000133710	147405246	147516852	ENSP00000427943	SPINK5	1	-	-	-	5'_UTR	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
14	5	147443589	G	A	ENST00000507988	ENSG00000133710	147405246	147516852	-	SPINK5	1	-	c.43G>A	p.D15N	non-syn	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
15	5	147443589	G	A	ENST00000508733	ENSG00000133710	147405246	147516852	ENSP00000421519	SPINK5	1	-	-	-	5'_UTR	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
16	5	147443589	G	A	ENST00000521206	ENSG00000133710	147405246	147516852	ENSP00000430264	SPINK5	1	-	-	-	5'_UTR	rs12522603	0.0085	A=69/G=8397;A=8/G=4244;A=77/G=12641	-	-	-	-	het	18
17	5	147444960	T	A	ENST00000507988	ENSG00000133710	147405246	147516852	-	SPINK5	1	-	c.167T>A	p.L56*	non-syn	rs201373597	-	-	lod=188:529	-	-	-	het	2
18	5	147444989	G	A	ENST00000507988	ENSG00000133710	147405246	147516852	-	SPINK5	1	-	c.196G>A	p.V66M	non-syn	rs9325061	0.8293	A=1988/G=1192;A=1084/G=300;A=3072/G=1492	-	-	-	-	hom	464
19	5	147444989	G	A	ENST00000507988	ENSG00000133710	147405246	147516852	-	SPINK5	1	-	c.196G>A	p.V66M	non-syn	rs9325061	0.8293	A=1988/G=1192;A=1084/G=300;A=3072/G=1492	-	-	-	-	het	395
20	5	147445012	T	C	ENST00000507988	ENSG00000133710	147405246	147516852	-	SPINK5	1	-	c.219T>C	p.H73H	syn	rs2287771	0.1584	C=225/T=2957;C=25/T=1359;C=250/T=4316	-	-	-	-	het	113

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Transcripts and variants in the surrounding SPINK5 5:147405246..147516852 region Gbrowse