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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 TSPYL1:

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
ENSG00000189241	TSPYL1	0	0	0	ENSG00000189241	ENST00000368608	ENSP00000357597	TSPY-like 1 [Source:HGNC Symbol;Acc:12382]	6	116597741	116601066	-1	q22.1	116597741	116601066	TSPYL1	TSPYL1-001	HGNC Symbol	HGNC transcript name	1	48.02	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7259	12382	TSPYL1	NM_003309	27515

MSeqDR Master Exome Data Set M1: 54 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	6	116598270	A	G	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs78676083	0.0381	-	-	-	-	-	het	3
2	6	116598293	A	G	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs10484837	0.0634	-	-	-	-	-	het	7
3	6	116598396	G	-CTGT	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	6	116598475	T	C	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs1045182	0.4935	-	-	-	-	-	het	318
5	6	116598475	T	C	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs1045182	0.4935	-	-	-	-	-	hom	86
6	6	116598549	G	A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	6	116598701	G	A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	6	116598793	G	A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs10456904	0.4922	-	-	-	-	-	het	253
9	6	116598793	G	A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs10456904	0.4922	-	-	-	-	-	hom	67
10	6	116598808	C	+T	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs113123091	-	-	-	-	-	-	het	13
11	6	116598833	T	-AAG	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
12	6	116598853	A	G	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs1128261	0.8451	-	-	-	-	-	het	250
13	6	116598853	A	G	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs1128261	0.8451	-	-	-	-	-	hom	171
14	6	116598931	G	A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	6	116599071	C	-AAAAAA	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	6	116599071	C	-AAAAA	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	6	116599071	C	-AAA	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs57691187	-	-	-	-	-	-	het	1
18	6	116599071	C	-AA	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	6	116599071	C	+A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	6	116599071	C	-A	ENST00000368608	ENSG00000189241	116597741	116601066	ENSP00000357597	TSPYL1	-1	TSYL1_HUMAN	-	-	3'_UTR	rs71877570	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding TSPYL1 6:116597741..116601066 region Gbrowse