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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 DECR1:

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
ENSG00000104325	DECR1	1	0	0	ENSG00000104325	ENST00000522161	ENSP00000429779	2,4-dienoyl CoA reductase 1, mitochondrial [Source:HGNC Symbol;Acc:2753]	8	91013633	91064320	1	q21.3	91013705	91064227	DECR1	DECR1-003	HGNC Symbol	HGNC transcript name	19	38.15	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	1666	2753	DECR1		27523

MSeqDR Master Exome Data Set M1: 199 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	8	91017601	T	C	ENST00000519410	ENSG00000104325	91013633	91064320	ENSP00000430561	DECR1	1	-	-	-	+4bp 5'_splice_site	rs115238416	0.0708	-	-	-	-	-	het	2
2	8	91017610	G	A	ENST00000519410	ENSG00000104325	91013633	91064320	ENSP00000430561	DECR1	1	-	-	-	+13bp 5'_splice_site	rs188483720	0.0056	-	-	-	-	-	het	7
3	8	91017673	C	T	ENST00000520227	ENSG00000104325	91013633	91064320	ENSP00000429096	DECR1	1	-	-	-	-3bp 3'_splice_site	rs193053221	0.0042	-	-	-	-	-	het	1
4	8	91017673	C	T	ENST00000520859	ENSG00000104325	91013633	91064320	-	DECR1	1	-	-	-	-3bp 3'_splice_site	rs193053221	0.0042	-	-	-	-	-	het	1
5	8	91017673	C	T	ENST00000521668	ENSG00000104325	91013633	91064320	-	DECR1	1	-	-	-	-3bp 3'_splice_site	rs193053221	0.0042	-	-	-	-	-	het	1
6	8	91017673	C	T	ENST00000522161	ENSG00000104325	91013633	91064320	ENSP00000429779	DECR1	1	-	-	-	-3bp 3'_splice_site	rs193053221	0.0042	-	-	-	-	-	het	1
7	8	91017745	T	C	ENST00000520227	ENSG00000104325	91013633	91064320	ENSP00000429096	DECR1	1	-	-	-	5'_UTR	rs1805806	0.6056	-	-	-	-	-	hom	119
8	8	91017745	T	C	ENST00000520227	ENSG00000104325	91013633	91064320	ENSP00000429096	DECR1	1	-	-	-	5'_UTR	rs1805806	0.6056	-	-	-	-	-	het	235
9	8	91017745	T	C	ENST00000520859	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.155T>C	p.L52P	non-syn	rs1805806	0.6056	-	-	-	-	-	hom	119
10	8	91017745	T	C	ENST00000520859	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.155T>C	p.L52P	non-syn	rs1805806	0.6056	-	-	-	-	-	het	235
11	8	91017745	T	C	ENST00000521668	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.154T>C	p.Y52H	non-syn	rs1805806	0.6056	-	-	-	-	-	hom	119
12	8	91017745	T	C	ENST00000521668	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.154T>C	p.Y52H	non-syn	rs1805806	0.6056	-	-	-	-	-	het	235
13	8	91017745	T	C	ENST00000522161	ENSG00000104325	91013633	91064320	ENSP00000429779	DECR1	1	-	-	-	5'_UTR	rs1805806	0.6056	-	-	-	-	-	hom	119
14	8	91017745	T	C	ENST00000522161	ENSG00000104325	91013633	91064320	ENSP00000429779	DECR1	1	-	-	-	5'_UTR	rs1805806	0.6056	-	-	-	-	-	het	235
15	8	91017749	A	G	ENST00000520227	ENSG00000104325	91013633	91064320	ENSP00000429096	DECR1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
16	8	91017749	A	G	ENST00000520859	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.159A>G	p.S53S	syn	NA	-	-	-	-	-	-	het	1
17	8	91017749	A	G	ENST00000521668	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.158A>G	p.Q53R	non-syn	NA	-	-	-	-	-	-	het	1
18	8	91017749	A	G	ENST00000522161	ENSG00000104325	91013633	91064320	ENSP00000429779	DECR1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	8	91017840	G	A	ENST00000520227	ENSG00000104325	91013633	91064320	ENSP00000429096	DECR1	1	-	-	-	5'_UTR	rs3026278	0.0328	-	-	-	-	-	het	1
20	8	91017840	G	A	ENST00000520859	ENSG00000104325	91013633	91064320	-	DECR1	1	-	c.250G>A	p.D84N	non-syn	rs3026278	0.0328	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding DECR1 8:91013633..91064320 region Gbrowse