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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 EIF2AK3:

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
ENSG00000172071	EIF2AK3	1	0	13	ENSG00000172071	ENST00000419748	ENSP00000408325	eukaryotic translation initiation factor 2-alpha kinase 3 [Source:HGNC Symbol;Acc:3255]	2	88856259	88927094	-1	p11.2	88856259	88924447	EIF2AK3	EIF2AK3-003	HGNC Symbol	HGNC transcript name	6	38.57	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	9451	3255	EIF2AK3		27508

MSeqDR Master Exome Data Set M1: 121 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	2	88856393	T	C	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	-	-	3'_UTR	NA	-	-	lod=617:656	-	-	-	het	2
2	2	88856393	T	C	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	-	-	3'_UTR	NA	-	-	lod=617:656	-	-	-	het	2
3	2	88856835	T	G	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	2	88856835	T	G	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	2	88856867	C	T	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
6	2	88856867	C	T	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
7	2	88856942	C	+TA	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	11
8	2	88856942	C	+TA	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	11
9	2	88856983	A	C	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
10	2	88856983	A	C	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
11	2	88857380	A	G	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	c.3225T>C	p.A1075A	syn	NA	-	-	lod=45:376	-	-	-	het	1
12	2	88857380	A	G	ENST00000415570	ENSG00000172071	88856259	88927094	ENSP00000412076	EIF2AK3	-1	-	c.2862T>C	p.A954A	syn	NA	-	-	lod=45:376	-	-	-	het	1
13	2	88857380	A	G	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	c.2772T>C	p.A924A	syn	NA	-	-	lod=45:376	-	-	-	het	1
14	2	88874235	T	C	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	c.2766A>G	p.A922A	syn	NA	-	-	lod=19:284	-	-	-	het	3
15	2	88874235	T	C	ENST00000415570	ENSG00000172071	88856259	88927094	ENSP00000412076	EIF2AK3	-1	-	c.2403A>G	p.A801A	syn	NA	-	-	lod=19:284	-	-	-	het	3
16	2	88874235	T	C	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	c.2313A>G	p.A771A	syn	NA	-	-	lod=19:284	-	-	-	het	3
17	2	88874235	T	C	ENST00000470706	ENSG00000172071	88856259	88927094	-	EIF2AK3	-1	-	c.409A>G	p.R137G	non-syn	NA	-	-	lod=19:284	-	-	-	het	3
18	2	88874686	T	A	ENST00000303236	ENSG00000172071	88856259	88927094	ENSP00000307235	EIF2AK3	-1	E2AK3_HUMAN	c.2315A>T	p.E772V	non-syn	NA	-	-	lod=28:325	DAMAGING	P	-	het	3
19	2	88874686	T	A	ENST00000415570	ENSG00000172071	88856259	88927094	ENSP00000412076	EIF2AK3	-1	-	c.1952A>T	p.E651V	non-syn	NA	-	-	lod=28:325	DAMAGING	P	-	het	3
20	2	88874686	T	A	ENST00000419748	ENSG00000172071	88856259	88927094	ENSP00000408325	EIF2AK3	-1	-	c.1862A>T	p.E621V	non-syn	NA	-	-	lod=28:325	DAMAGING	P	-	het	3

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Transcripts and variants in the surrounding EIF2AK3 2:88856259..88927094 region Gbrowse