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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 FAS:

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
ENSG00000026103	FAS	0	0	28	ENSG00000026103	ENST00000492756	ENSP00000422453	Fas cell surface death receptor [Source:HGNC Symbol;Acc:11920]	10	90750414	90775542	1	q23.31	90750634	90774207	FAS	FAS-010	HGNC Symbol	HGNC transcript name	16	37.77	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	355	11920	FAS		27525

MSeqDR Master Exome Data Set M1: 308 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	90750535	G	A	ENST00000352159	ENSG00000026103	90750414	90775542	ENSP00000345601	FAS	1	-	-	-	5'_UTR	rs12251390	-	-	-	-	-	-	het	2
2	10	90750535	G	A	ENST00000355740	ENSG00000026103	90750414	90775542	ENSP00000347979	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs12251390	-	-	-	-	-	-	het	2
3	10	90750535	G	A	ENST00000357339	ENSG00000026103	90750414	90775542	ENSP00000349896	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs12251390	-	-	-	-	-	-	het	2
4	10	90750535	G	A	ENST00000484444	ENSG00000026103	90750414	90775542	ENSP00000420975	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs12251390	-	-	-	-	-	-	het	2
5	10	90750539	G	A	ENST00000352159	ENSG00000026103	90750414	90775542	ENSP00000345601	FAS	1	-	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	het	11
6	10	90750539	G	A	ENST00000352159	ENSG00000026103	90750414	90775542	ENSP00000345601	FAS	1	-	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	hom	1
7	10	90750539	G	A	ENST00000355740	ENSG00000026103	90750414	90775542	ENSP00000347979	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	het	11
8	10	90750539	G	A	ENST00000355740	ENSG00000026103	90750414	90775542	ENSP00000347979	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	hom	1
9	10	90750539	G	A	ENST00000357339	ENSG00000026103	90750414	90775542	ENSP00000349896	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	het	11
10	10	90750539	G	A	ENST00000357339	ENSG00000026103	90750414	90775542	ENSP00000349896	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	hom	1
11	10	90750539	G	A	ENST00000484444	ENSG00000026103	90750414	90775542	ENSP00000420975	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	het	11
12	10	90750539	G	A	ENST00000484444	ENSG00000026103	90750414	90775542	ENSP00000420975	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs2274355	0.0925	-	-	-	-	-	hom	1
13	10	90750577	A	-C	ENST00000352159	ENSG00000026103	90750414	90775542	ENSP00000345601	FAS	1	-	-	-	5'_UTR	rs9658678	-	-	-	-	-	-	het	2
14	10	90750577	A	-C	ENST00000355740	ENSG00000026103	90750414	90775542	ENSP00000347979	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs9658678	-	-	-	-	-	-	het	2
15	10	90750577	A	-C	ENST00000357339	ENSG00000026103	90750414	90775542	ENSP00000349896	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs9658678	-	-	-	-	-	-	het	2
16	10	90750577	A	-C	ENST00000484444	ENSG00000026103	90750414	90775542	ENSP00000420975	FAS	1	TNR6_HUMAN	-	-	5'_UTR	rs9658678	-	-	-	-	-	-	het	2
17	10	90750594	T	C	ENST00000352159	ENSG00000026103	90750414	90775542	ENSP00000345601	FAS	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
18	10	90750594	T	C	ENST00000355740	ENSG00000026103	90750414	90775542	ENSP00000347979	FAS	1	TNR6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	10	90750594	T	C	ENST00000357339	ENSG00000026103	90750414	90775542	ENSP00000349896	FAS	1	TNR6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	10	90750594	T	C	ENST00000484444	ENSG00000026103	90750414	90775542	ENSP00000420975	FAS	1	TNR6_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding FAS 10:90750414..90775542 region Gbrowse