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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 AK1:

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
ENSG00000106992	AK1	0	0	7	ENSG00000106992	ENST00000373176	ENSP00000362271	adenylate kinase 1 [Source:HGNC Symbol;Acc:361]	9	130628759	130640022	-1	q34.11	130628759	130640022	AK1	AK1-008	HGNC Symbol	HGNC transcript name	6	60.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	203	361	AK1	NM_000476	27518

MSeqDR Master Exome Data Set M1: 100 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	9	130628836	T	C	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs189027138	0.0073	-	-	-	-	-	het	5
2	9	130629006	A	T	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	9	130629064	C	T	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	9	130629100	G	A	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs187001682	0.0057	-	-	-	-	-	het	2
5	9	130629139	T	G	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs913987	0.8071	-	-	-	-	-	hom	380
6	9	130629139	T	G	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs913987	0.8071	-	-	-	-	-	het	253
7	9	130629277	A	G	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	9	130629285	T	-C	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
9	9	130629286	C	-T	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	9	130629365	T	C	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs10987762	0.1661	-	-	-	-	-	het	35
11	9	130629365	T	C	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs10987762	0.1661	-	-	-	-	-	hom	2
12	9	130629527	G	T	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs2249308	0.8871	-	-	-	-	-	hom	560
13	9	130629527	G	T	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs2249308	0.8871	-	-	-	-	-	het	95
14	9	130629582	A	G	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs10987763	0.2091	-	-	-	-	-	het	143
15	9	130629582	A	G	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs10987763	0.2091	-	-	-	-	-	hom	9
16	9	130629674	G	A	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
17	9	130629693	A	G	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs55880338	0.0212	-	-	-	-	-	het	16
18	9	130629697	C	+CCA	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	9	130629769	G	A	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	rs181578124	0.0052	-	-	-	-	-	het	3
20	9	130629876	G	A	ENST00000373176	ENSG00000106992	130628759	130640022	ENSP00000362271	AK1	-1	KAD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding AK1 9:130628759..130640022 region Gbrowse