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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 CASP8:

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
ENSG00000064012	CASP8	1	0	3	ENSG00000064012	ENST00000437283	ENSP00000407378	caspase 8, apoptosis-related cysteine peptidase [Source:HGNC Symbol;Acc:1509]	2	202098166	202152434	1	q33.1	202122841	202137461	CASP8	CASP8-001	HGNC Symbol	HGNC transcript name	21	43.9	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	841	1509	CASP8		27508

MSeqDR Master Exome Data Set M1: 387 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	2	202122715	T	G	ENST00000447616	ENSG00000064012	202098166	202152434	ENSP00000388306	CASP8	1	-	-	-	5'_UTR	rs17860418	0.0514	-	-	-	-	-	het	20
2	2	202122715	T	G	ENST00000447616	ENSG00000064012	202098166	202152434	ENSP00000388306	CASP8	1	-	-	-	5'_UTR	rs17860418	0.0514	-	-	-	-	-	hom	2
3	2	202122773	T	A	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
4	2	202122773	T	A	ENST00000447616	ENSG00000064012	202098166	202152434	ENSP00000388306	CASP8	1	-	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	2
5	2	202122812	G	T	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	2	202122956	T	C	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	c.2T>C	p.M1T	non-syn	rs3769824	0.04645	C=361/T=7899;C=34/T=3752;C=395/T=11651	-	TOLERATED	NA	-	hom	2
7	2	202122956	T	C	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	c.2T>C	p.M1T	non-syn	rs3769824	0.04645	C=361/T=7899;C=34/T=3752;C=395/T=11651	-	TOLERATED	NA	-	het	91
8	2	202122956	T	C	ENST00000437283	ENSG00000064012	202098166	202152434	ENSP00000407378	CASP8	1	-	c.2T>C	p.M1T	non-syn	rs3769824	0.04645	C=361/T=7899;C=34/T=3752;C=395/T=11651	-	TOLERATED	NA	-	hom	2
9	2	202122956	T	C	ENST00000437283	ENSG00000064012	202098166	202152434	ENSP00000407378	CASP8	1	-	c.2T>C	p.M1T	non-syn	rs3769824	0.04645	C=361/T=7899;C=34/T=3752;C=395/T=11651	-	TOLERATED	NA	-	het	91
10	2	202122995	A	G	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	c.41A>G	p.K14R	non-syn	rs3769823	0.63113	G=5832/A=2430;G=2286/A=1578;G=8118/A=4008	-	TOLERATED	NA	-	het	424
11	2	202122995	A	G	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	c.41A>G	p.K14R	non-syn	rs3769823	0.63113	G=5832/A=2430;G=2286/A=1578;G=8118/A=4008	-	TOLERATED	NA	-	hom	485
12	2	202122995	A	G	ENST00000437283	ENSG00000064012	202098166	202152434	ENSP00000407378	CASP8	1	-	c.41A>G	p.K14R	non-syn	rs3769823	0.63113	G=5832/A=2430;G=2286/A=1578;G=8118/A=4008	-	TOLERATED	NA	-	het	424
13	2	202122995	A	G	ENST00000437283	ENSG00000064012	202098166	202152434	ENSP00000407378	CASP8	1	-	c.41A>G	p.K14R	non-syn	rs3769823	0.63113	G=5832/A=2430;G=2286/A=1578;G=8118/A=4008	-	TOLERATED	NA	-	hom	485
14	2	202123028	C	G	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	c.74C>G	p.P25R	non-syn	rs34210251	0.00095	G=2/C=8280;G=0/C=3912;G=2/C=12192	-	DAMAGING	NA	-	het	1
15	2	202123028	C	G	ENST00000437283	ENSG00000064012	202098166	202152434	ENSP00000407378	CASP8	1	-	c.74C>G	p.P25R	non-syn	rs34210251	0.00095	G=2/C=8280;G=0/C=3912;G=2/C=12192	-	DAMAGING	NA	-	het	1
16	2	202123055	G	C	ENST00000339403	ENSG00000064012	202098166	202152434	-	CASP8	1	-	c.9G>C	p.R3S	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
17	2	202123055	G	C	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	c.101G>C	p.G34A	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
18	2	202123055	G	C	ENST00000437283	ENSG00000064012	202098166	202152434	ENSP00000407378	CASP8	1	-	c.101G>C	p.G34A	non-syn	NA	-	-	-	DAMAGING	NA	-	het	1
19	2	202123108	G	A	ENST00000339403	ENSG00000064012	202098166	202152434	-	CASP8	1	-	-	-	+3bp 5'_splice_site	rs202238412	-	A=15/G=8329;A=1/G=4017;A=16/G=12346	lod=31:336	-	-	-	het	3
20	2	202123108	G	A	ENST00000358485	ENSG00000064012	202098166	202152434	ENSP00000351273	CASP8	1	CASP8_HUMAN	-	-	+3bp 5'_splice_site	rs202238412	-	A=15/G=8329;A=1/G=4017;A=16/G=12346	lod=31:336	-	-	-	het	3

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Transcripts and variants in the surrounding CASP8 2:202098166..202152434 region Gbrowse