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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 ENSG00000118246:

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
ENSG00000118246	FASTKD2	1	84	23	ENSG00000118246	ENST00000236980	ENSP00000236980	FAST kinase domains 2 [Source:HGNC Symbol;Acc:29160]	2	207630081	207657233	1	q33.3	207630081	207657233	FASTKD2	FASTKD2-001	HGNC Symbol	HGNC transcript name	6	37.72	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	22868	29160	FASTKD2	NM_014929	27508

MSeqDR Master Exome Data Set M1: 174 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	207630093	C	A	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs16838839	0.1972	-	-	-	-	-	het	133
2	2	207630093	C	A	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs16838839	0.1972	-	-	-	-	-	hom	6
3	2	207630093	C	A	ENST00000418289	ENSG00000118246	207630081	207657233	ENSP00000409927	FASTKD2	1	-	-	-	5'_UTR	rs16838839	0.1972	-	-	-	-	-	het	133
4	2	207630093	C	A	ENST00000418289	ENSG00000118246	207630081	207657233	ENSP00000409927	FASTKD2	1	-	-	-	5'_UTR	rs16838839	0.1972	-	-	-	-	-	hom	6
5	2	207630218	A	G	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	2	207630218	A	G	ENST00000402774	ENSG00000118246	207630081	207657233	ENSP00000385990	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	2	207630218	A	G	ENST00000418289	ENSG00000118246	207630081	207657233	ENSP00000409927	FASTKD2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	2	207630338	C	T	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs3762567	0.1359	-	-	-	-	-	het	176
9	2	207630338	C	T	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs3762567	0.1359	-	-	-	-	-	hom	16
10	2	207630338	C	T	ENST00000402774	ENSG00000118246	207630081	207657233	ENSP00000385990	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs3762567	0.1359	-	-	-	-	-	het	176
11	2	207630338	C	T	ENST00000402774	ENSG00000118246	207630081	207657233	ENSP00000385990	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs3762567	0.1359	-	-	-	-	-	hom	16
12	2	207630338	C	T	ENST00000403094	ENSG00000118246	207630081	207657233	ENSP00000384929	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs3762567	0.1359	-	-	-	-	-	het	176
13	2	207630338	C	T	ENST00000403094	ENSG00000118246	207630081	207657233	ENSP00000384929	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs3762567	0.1359	-	-	-	-	-	hom	16
14	2	207630392	G	A	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
15	2	207630392	G	A	ENST00000402774	ENSG00000118246	207630081	207657233	ENSP00000385990	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	2	207630392	G	A	ENST00000403094	ENSG00000118246	207630081	207657233	ENSP00000384929	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
17	2	207630392	G	A	ENST00000487777	ENSG00000118246	207630081	207657233	-	FASTKD2	1	-	-	-	+14bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
18	2	207630410	A	G	ENST00000402774	ENSG00000118246	207630081	207657233	ENSP00000385990	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	2	207630410	A	G	ENST00000403094	ENSG00000118246	207630081	207657233	ENSP00000384929	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	2	207631388	T	C	ENST00000236980	ENSG00000118246	207630081	207657233	ENSP00000236980	FASTKD2	1	FAKD2_HUMAN	-	-	5'_UTR	rs145438423	0.0042	C=1/T=8599;C=29/T=4377;C=30/T=12976	-	-	-	-	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 FASTKD2 2:207630081..207657233 region Gbrowse