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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 STXBP1:

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
ENSG00000136854	STXBP1	1	5	102	ENSG00000136854	ENST00000373302	ENSP00000362399	syntaxin binding protein 1 [Source:HGNC Symbol;Acc:11444]	9	130374544	130457460	1	q34.11	130374544	130454995	STXBP1	STXBP1-001	HGNC Symbol	HGNC transcript name	7	46.58	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	6812	11444	STXBP1	NM_003165	27518

MSeqDR Master Exome Data Set M1: 100 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	9	130374545	G	A	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	9	130374592	C	A	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
3	9	130374592	C	A	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	9	130374594	G	A	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
5	9	130374594	G	A	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
6	9	130374594	G	A	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
7	9	130374594	G	A	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
8	9	130413879	T	C	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	-3bp 3'_splice_site	rs138763389	0.01009	C=161/T=8439;C=21/T=4385;C=182/T=12824	lod=390:607	-	-	-	het	9
9	9	130413879	T	C	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	-3bp 3'_splice_site	rs138763389	0.01009	C=161/T=8439;C=21/T=4385;C=182/T=12824	lod=390:607	-	-	-	het	9
10	9	130420645	G	T	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	-9bp 3'_splice_site	NA	-	-	lod=194:532	-	-	-	het	2
11	9	130420645	G	T	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	-9bp 3'_splice_site	NA	-	-	lod=194:532	-	-	-	het	2
12	9	130422301	A	G	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	-8bp 3'_splice_site	rs199827018	-	G=41/A=8559;G=1/A=4405;G=42/A=12964	-	-	-	-	het	10
13	9	130422301	A	G	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	-8bp 3'_splice_site	rs199827018	-	G=41/A=8559;G=1/A=4405;G=42/A=12964	-	-	-	-	het	10
14	9	130422343	C	T	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	c.281C>T	p.P94L	non-syn	rs200802985	-	-	lod=222:547	TOLERATED	P	-	het	3
15	9	130422343	C	T	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	c.281C>T	p.P94L	non-syn	rs200802985	-	-	lod=222:547	TOLERATED	P	-	het	3
16	9	130422395	C	T	ENST00000373299	ENSG00000136854	130374544	130457460	ENSP00000362396	STXBP1	1	STXB1_HUMAN	-	-	+8bp 5'_splice_site	rs117372398	0.00273	T=41/C=8559;T=3/C=4403;T=44/C=12962	-	-	-	-	het	7
17	9	130422395	C	T	ENST00000373302	ENSG00000136854	130374544	130457460	ENSP00000362399	STXBP1	1	STXB1_HUMAN	-	-	+8bp 5'_splice_site	rs117372398	0.00273	T=41/C=8559;T=3/C=4403;T=44/C=12962	-	-	-	-	het	7
18	9	130425709	C	T	ENST00000495829	ENSG00000136854	130374544	130457460	-	STXBP1	1	-	c.268C>T	p.R90W	non-syn	NA	-	-	-	-	-	-	het	1
19	9	130425709	C	T	ENST00000496504	ENSG00000136854	130374544	130457460	-	STXBP1	1	-	c.268C>T	p.R90W	non-syn	NA	-	-	-	-	-	-	het	1
20	9	130425777	C	T	ENST00000495829	ENSG00000136854	130374544	130457460	-	STXBP1	1	-	c.336C>T	p.Y112Y	syn	rs7036307	0.98701	-	-	-	-	-	het	9

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Transcripts and variants in the surrounding STXBP1 9:130374544..130457460 region Gbrowse