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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 FRAS1:

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
ENSG00000138759	FRAS1	0	0	43	ENSG00000138759	ENST00000325942	ENSP00000326330	Fraser syndrome 1 [Source:HGNC Symbol;Acc:19185]	4	78978724	79465423	1	q21.21	78978724	79367712	FRAS1	FRAS1-001	HGNC Symbol	HGNC transcript name	9	39.75	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	80144	19185	FRAS1	NM_001166133	27524

MSeqDR Master Exome Data Set M1: 861 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	4	78978907	G	T	ENST00000264895	ENSG00000138759	78978724	79465423	ENSP00000264895	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs78363185	0.0603	-	-	-	-	-	het	3
2	4	78978907	G	T	ENST00000264899	ENSG00000138759	78978724	79465423	ENSP00000264899	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs78363185	0.0603	-	-	-	-	-	het	3
3	4	78978907	G	T	ENST00000325942	ENSG00000138759	78978724	79465423	ENSP00000326330	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs78363185	0.0603	-	-	-	-	-	het	3
4	4	78978907	G	T	ENST00000508909	ENSG00000138759	78978724	79465423	ENSP00000425583	FRAS1	1	-	-	-	5'_UTR	rs78363185	0.0603	-	-	-	-	-	het	3
5	4	78979099	T	C	ENST00000264895	ENSG00000138759	78978724	79465423	ENSP00000264895	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs6832285	0.1957	-	-	-	-	-	het	27
6	4	78979099	T	C	ENST00000264899	ENSG00000138759	78978724	79465423	ENSP00000264899	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs6832285	0.1957	-	-	-	-	-	het	27
7	4	78979099	T	C	ENST00000325942	ENSG00000138759	78978724	79465423	ENSP00000326330	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs6832285	0.1957	-	-	-	-	-	het	27
8	4	78979099	T	C	ENST00000508909	ENSG00000138759	78978724	79465423	ENSP00000425583	FRAS1	1	-	-	-	5'_UTR	rs6832285	0.1957	-	-	-	-	-	het	27
9	4	78979141	C	T	ENST00000264895	ENSG00000138759	78978724	79465423	ENSP00000264895	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	het	300
10	4	78979141	C	T	ENST00000264895	ENSG00000138759	78978724	79465423	ENSP00000264895	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	hom	38
11	4	78979141	C	T	ENST00000264899	ENSG00000138759	78978724	79465423	ENSP00000264899	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	het	300
12	4	78979141	C	T	ENST00000264899	ENSG00000138759	78978724	79465423	ENSP00000264899	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	hom	38
13	4	78979141	C	T	ENST00000325942	ENSG00000138759	78978724	79465423	ENSP00000326330	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	het	300
14	4	78979141	C	T	ENST00000325942	ENSG00000138759	78978724	79465423	ENSP00000326330	FRAS1	1	FRAS1_HUMAN	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	hom	38
15	4	78979141	C	T	ENST00000508909	ENSG00000138759	78978724	79465423	ENSP00000425583	FRAS1	1	-	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	het	300
16	4	78979141	C	T	ENST00000508909	ENSG00000138759	78978724	79465423	ENSP00000425583	FRAS1	1	-	-	-	5'_UTR	rs34237418	0.2012	T=1763/C=6817;T=248/C=4100;T=2011/C=10917	lod=37:355	-	-	-	hom	38
17	4	78979257	C	+GT	ENST00000264895	ENSG00000138759	78978724	79465423	ENSP00000264895	FRAS1	1	FRAS1_HUMAN	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	27
18	4	78979257	C	+GT	ENST00000264899	ENSG00000138759	78978724	79465423	ENSP00000264899	FRAS1	1	FRAS1_HUMAN	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	27
19	4	78979257	C	+GT	ENST00000325942	ENSG00000138759	78978724	79465423	ENSP00000326330	FRAS1	1	FRAS1_HUMAN	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	27
20	4	78979257	C	+GT	ENST00000508909	ENSG00000138759	78978724	79465423	ENSP00000425583	FRAS1	1	-	-	-	+18bp 5'_splice_site	NA	-	-	-	-	-	-	het	27

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FRAS1 4:78978724..79465423 region Gbrowse