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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 HOXA13:

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
ENSG00000106031	HOXA13	0	0	3	ENSG00000106031	ENST00000518136		homeobox A13 [Source:HGNC Symbol;Acc:5102]	7	27233122	27239725	-1	p15.2	27233122	27235219	HOXA13	HOXA13-002	HGNC Symbol	HGNC transcript name	2	45.38	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	3209	5102	HOXA13		27506

MSeqDR Master Exome Data Set M1: 46 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	27234981	G	T	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs76640950	0.0046	-	-	-	-	-	het	11
2	7	27234981	G	T	ENST00000518136	ENSG00000106031	27233122	27239725	-	HOXA13	-1	-	c.239C>A	p.S80Y	non-syn	rs76640950	0.0046	-	-	-	-	-	het	11
3	7	27235019	G	A	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
4	7	27235019	G	A	ENST00000518136	ENSG00000106031	27233122	27239725	-	HOXA13	-1	-	c.201C>T	p.A67A	syn	NA	-	-	-	-	-	-	het	4
5	7	27235110	C	A	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs141101323	0.00094	-	lod=18:278	-	-	-	het	7
6	7	27235110	C	A	ENST00000518136	ENSG00000106031	27233122	27239725	-	HOXA13	-1	-	c.110G>T	p.C37F	non-syn	rs141101323	0.00094	-	lod=18:278	-	-	-	het	7
7	7	27235155	T	+TA	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	7	27235155	T	+TA	ENST00000518136	ENSG00000106031	27233122	27239725	-	HOXA13	-1	-	c.64_65insTA	p.Q22NA	non-syn	NA	-	-	-	-	-	-	het	2
9	7	27235240	A	C	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs192009497	0.0042	-	lod=36:352	-	-	-	het	1
10	7	27235327	G	A	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	7	27235624	C	-T	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs34483842	-	-	-	-	-	-	het	5
12	7	27235628	G	A	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs62454450	0.01107	-	-	-	-	-	het	14
13	7	27235665	A	C	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs17501264	0.0241	-	-	-	-	-	het	2
14	7	27236026	G	A	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs143472493	0.02381	-	lod=553:644	-	-	-	het	7
15	7	27236146	C	T	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	NA	-	-	lod=55:397	-	-	-	het	1
16	7	27236310	C	G	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs17501271	0.0186	-	lod=13:243	-	-	-	het	7
17	7	27236344	A	G	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs17501278	0.0931	-	-	-	-	-	het	33
18	7	27236493	T	G	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs11984297	0.03635	-	lod=100:461	-	-	-	het	53
19	7	27236557	G	-T	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs2391397	-	-	-	-	-	-	het	359
20	7	27236557	G	-T	ENST00000222753	ENSG00000106031	27233122	27239725	ENSP00000222753	HOXA13	-1	HXA13_HUMAN	-	-	3'_UTR	rs2391397	-	-	-	-	-	-	hom	468

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Transcripts and variants in the surrounding HOXA13 7:27233122..27239725 region Gbrowse