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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 ALX4:

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
ENSG00000052850	ALX4	0	0	15	ENSG00000052850	ENST00000329255	ENSP00000332744	ALX homeobox 4 [Source:HGNC Symbol;Acc:450]	11	44281994	44331716	-1	p11.2	44281994	44331716	ALX4	ALX4-001	HGNC Symbol	HGNC transcript name	1	52.84	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	60529	450	ALX4	NM_021926	27504

MSeqDR Master Exome Data Set M1: 111 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	44282100	C	T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs137974654	0.02381	-	-	-	-	-	het	34
2	11	44282120	A	G	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs10734522	0.8986	-	-	-	-	-	het	100
3	11	44282120	A	G	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs10734522	0.8986	-	-	-	-	-	hom	555
4	11	44282266	A	-T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	NA	-	-	lod=256:562	-	-	-	het	2
5	11	44282266	A	+T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	NA	-	-	lod=256:562	-	-	-	het	1
6	11	44282808	G	C	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs11037919	0.0381	-	lod=13:243	-	-	-	het	3
7	11	44282999	C	T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs7115841	0.0351	-	-	-	-	-	het	46
8	11	44282999	C	T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs7115841	0.0351	-	-	-	-	-	hom	2
9	11	44283009	G	A	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	11	44283022	C	T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	11	44283165	A	G	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs190643475	0.0064	-	-	-	-	-	het	2
12	11	44283238	G	A	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs7116335	0.3913	-	-	-	-	-	hom	50
13	11	44283238	G	A	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs7116335	0.3913	-	-	-	-	-	het	241
14	11	44283281	C	T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs182987016	0.0061	-	-	-	-	-	het	1
15	11	44283297	T	C	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs4755239	0.896	-	-	-	-	-	het	99
16	11	44283297	T	C	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs4755239	0.896	-	-	-	-	-	hom	555
17	11	44283392	G	C	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs117877500	0.0317	-	-	-	-	-	het	17
18	11	44283392	G	C	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs117877500	0.0317	-	-	-	-	-	hom	1
19	11	44283413	C	T	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
20	11	44283572	T	G	ENST00000329255	ENSG00000052850	44281994	44331716	ENSP00000332744	ALX4	-1	ALX4_HUMAN	-	-	3'_UTR	rs1840254	0.3893	-	-	-	-	-	het	238

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Transcripts and variants in the surrounding ALX4 11:44281994..44331716 region Gbrowse