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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 PAX6:

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
ENSG00000007372	PAX6	0	0	35	ENSG00000007372	ENST00000423822	ENSP00000388132	paired box 6 [Source:HGNC Symbol;Acc:8620]	11	31806340	31839509	-1	p13	31823417	31839422	PAX6	PAX6-012	HGNC Symbol	HGNC transcript name	30	49.68	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	5080	8620	PAX6		27504

MSeqDR Master Exome Data Set M1: 347 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	11	31806374	T	C	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs146579778	0.00472	-	lod=1499:751	-	-	-	het	1
2	11	31806537	G	A	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	lod=657:663	-	-	-	het	1
3	11	31806895	G	A	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs191251943	0.0028	-	lod=176:522	-	-	-	het	1
4	11	31807112	G	C	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs183115097	0.00286	-	-	-	-	-	het	2
5	11	31807186	C	G	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs16922475	0.106	-	-	-	-	-	het	20
6	11	31807186	C	G	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs16922475	0.106	-	-	-	-	-	hom	1
7	11	31807215	G	C	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
8	11	31807524	C	T	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs3026401	0.74573	-	-	-	-	-	het	260
9	11	31807524	C	T	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs3026401	0.74573	-	-	-	-	-	hom	329
10	11	31807597	C	A	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs183433948	0.00277	-	-	-	-	-	het	1
11	11	31807812	G	A	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs149777109	0.00851	-	-	-	-	-	het	2
12	11	31807814	A	-C	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	11	31808054	G	A	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs191399467	0.0044	-	-	-	-	-	het	2
14	11	31808235	T	+AAAAA	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	11	31808235	T	+AAAA	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	300
16	11	31808235	T	+AAAA	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	304
17	11	31808280	C	T	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs608293	0.84259	-	-	-	-	-	hom	468
18	11	31808280	C	T	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs608293	0.84259	-	-	-	-	-	het	182
19	11	31808468	G	A	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	11	31808497	C	T	ENST00000419022	ENSG00000007372	31806340	31839509	ENSP00000404100	PAX6	-1	PAX6_HUMAN	-	-	3'_UTR	rs3026399	0.01772	-	-	-	-	-	het	13

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Transcripts and variants in the surrounding PAX6 11:31806340..31839509 region Gbrowse