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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 HOXA11:

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
ENSG00000005073	HOXA11	0	0	1	ENSG00000005073	ENST00000517402	ENSP00000448962	homeobox A11 [Source:HGNC Symbol;Acc:5101]	7	27221129	27224842	-1	p15.2	27221129	27224842	HOXA11	HOXA11-002	HGNC Symbol	HGNC transcript name	2	55.22	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	3207	5101	HOXA11		27506

MSeqDR Master Exome Data Set M1: 60 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	7	27221214	G	A	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	NA	-	-	lod=583:650	-	-	-	het	1
2	7	27221214	G	A	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	NA	-	-	lod=583:650	-	-	-	het	1
3	7	27221223	A	G	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	NA	-	-	lod=583:650	-	-	-	het	1
4	7	27221223	A	G	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	NA	-	-	lod=583:650	-	-	-	het	1
5	7	27221227	C	T	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	rs67971665	0.0315	-	lod=583:650	-	-	-	het	22
6	7	27221227	C	T	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	rs67971665	0.0315	-	lod=583:650	-	-	-	het	22
7	7	27221228	G	A	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	NA	-	-	lod=583:650	-	-	-	het	3
8	7	27221228	G	A	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	NA	-	-	lod=583:650	-	-	-	het	3
9	7	27221304	C	T	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	NA	-	-	lod=391:607	-	-	-	het	1
10	7	27221304	C	T	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	NA	-	-	lod=391:607	-	-	-	het	1
11	7	27221331	A	G	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	rs17501084	0.0956	-	lod=391:607	-	-	-	het	5
12	7	27221331	A	G	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	rs17501084	0.0956	-	lod=391:607	-	-	-	hom	2
13	7	27221331	A	G	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	rs17501084	0.0956	-	lod=391:607	-	-	-	het	5
14	7	27221331	A	G	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	rs17501084	0.0956	-	lod=391:607	-	-	-	hom	2
15	7	27221454	C	A	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	rs17501090	0.0505	-	-	-	-	-	het	14
16	7	27221454	C	A	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	rs17501090	0.0505	-	-	-	-	-	hom	1
17	7	27221454	C	A	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	rs17501090	0.0505	-	-	-	-	-	het	14
18	7	27221454	C	A	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	rs17501090	0.0505	-	-	-	-	-	hom	1
19	7	27221456	G	A	ENST00000006015	ENSG00000005073	27221129	27224842	ENSP00000006015	HOXA11	-1	HXA11_HUMAN	-	-	3'_UTR	rs191585043	0.0041	-	-	-	-	-	het	3
20	7	27221456	G	A	ENST00000517402	ENSG00000005073	27221129	27224842	ENSP00000448962	HOXA11	-1	-	-	-	3'_UTR	rs191585043	0.0041	-	-	-	-	-	het	3

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Transcripts and variants in the surrounding HOXA11 7:27221129..27224842 region Gbrowse