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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 ELOVL4:

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
ENSG00000118402	ELOVL4	1	0	8	ENSG00000118402	ENST00000369816	ENSP00000358831	ELOVL fatty acid elongase 4 [Source:HGNC Symbol;Acc:14415]	6	80624529	80657297	-1	q14.1	80624529	80657297	ELOVL4	ELOVL4-001	HGNC Symbol	HGNC transcript name	1	36.66	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	6785	14415	ELOVL4	NM_022726	27515

MSeqDR Master Exome Data Set M1: 43 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	6	80624530	A	T	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs343705	0.4629	-	-	-	-	-	hom	37
2	6	80624530	A	T	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs343705	0.4629	-	-	-	-	-	het	215
3	6	80624595	G	A	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	NA	-	-	lod=92:452	-	-	-	het	2
4	6	80624656	A	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs2991	0.1861	-	lod=14:251	-	-	-	het	171
5	6	80624656	A	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs2991	0.1861	-	lod=14:251	-	-	-	hom	15
6	6	80624774	T	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs55808788	0.0869	-	lod=65:415	-	-	-	het	7
7	6	80624819	T	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	NA	-	-	lod=55:397	-	-	-	het	3
8	6	80625259	A	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs45594338	0.02632	-	lod=18:278	-	-	-	hom	1
9	6	80625259	A	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs45594338	0.02632	-	lod=18:278	-	-	-	het	41
10	6	80625275	T	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs114429396	0.0015	-	-	-	-	-	het	2
11	6	80625283	G	A	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	6	80625293	C	+A	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	6	80625326	T	C	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	NA	-	-	lod=480:629	-	-	-	het	1
14	6	80625529	C	-A	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	NA	-	-	lod=88:448	-	-	-	het	3
15	6	80625529	C	-AT	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs140197858	-	-	lod=88:448	-	-	-	het	159
16	6	80625529	C	-AT	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs140197858	-	-	lod=88:448	-	-	-	hom	14
17	6	80625658	A	G	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs16891260	0.186	-	-	-	-	-	hom	19
18	6	80625658	A	G	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs16891260	0.186	-	-	-	-	-	het	188
19	6	80625716	C	T	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs41270555	0.042	-	lod=104:466	-	-	-	het	42
20	6	80625716	C	T	ENST00000369816	ENSG00000118402	80624529	80657297	ENSP00000358831	ELOVL4	-1	ELOV4_HUMAN	-	-	3'_UTR	rs41270555	0.042	-	lod=104:466	-	-	-	hom	1

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Transcripts and variants in the surrounding ELOVL4 6:80624529..80657297 region Gbrowse