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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 GPD1L:

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
ENSG00000152642	GPD1L	0	0	21	ENSG00000152642	ENST00000429432	ENSP00000393861	glycerol-3-phosphate dehydrogenase 1-like [Source:HGNC Symbol;Acc:28956]	3	32147181	32210205	1	p22.3	32147181	32181853	GPD1L	GPD1L-005	HGNC Symbol	HGNC transcript name	7	44.49	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	23171	28956	GPD1L		27517

MSeqDR Master Exome Data Set M1: 224 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	3	32148085	C	T	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	-	-	5'_UTR	rs1077601	0.0686	-	lod=41:366	-	-	-	het	58
2	3	32148085	C	T	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	-	-	5'_UTR	rs1077601	0.0686	-	lod=41:366	-	-	-	hom	2
3	3	32148112	G	+C	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	3	32148112	G	+C	ENST00000428684	ENSG00000152642	32147181	32210205	ENSP00000392199	GPD1L	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	3	32148132	G	T	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
6	3	32148132	G	T	ENST00000425459	ENSG00000152642	32147181	32210205	ENSP00000408770	GPD1L	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
7	3	32148132	G	T	ENST00000428684	ENSG00000152642	32147181	32210205	ENSP00000392199	GPD1L	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
8	3	32169601	T	C	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	c.81T>C	p.N27N	syn	rs34278284	0.0332	C=0/T=8600;C=73/T=4333;C=73/T=12933	lod=203:537	-	-	-	het	2
9	3	32169601	T	C	ENST00000425459	ENSG00000152642	32147181	32210205	ENSP00000408770	GPD1L	1	-	c.81T>C	p.N27N	syn	rs34278284	0.0332	C=0/T=8600;C=73/T=4333;C=73/T=12933	lod=203:537	-	-	-	het	2
10	3	32169601	T	C	ENST00000429432	ENSG00000152642	32147181	32210205	ENSP00000393861	GPD1L	1	-	-	-	5'_UTR	rs34278284	0.0332	C=0/T=8600;C=73/T=4333;C=73/T=12933	lod=203:537	-	-	-	het	2
11	3	32169601	T	C	ENST00000431009	ENSG00000152642	32147181	32210205	ENSP00000416518	GPD1L	1	-	-	-	5'_UTR	rs34278284	0.0332	C=0/T=8600;C=73/T=4333;C=73/T=12933	lod=203:537	-	-	-	het	2
12	3	32169657	C	T	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	c.137C>T	p.T46I	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
13	3	32169657	C	T	ENST00000425459	ENSG00000152642	32147181	32210205	ENSP00000408770	GPD1L	1	-	c.137C>T	p.T46I	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
14	3	32169657	C	T	ENST00000429432	ENSG00000152642	32147181	32210205	ENSP00000393861	GPD1L	1	-	c.20C>T	p.T7I	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
15	3	32169657	C	T	ENST00000431009	ENSG00000152642	32147181	32210205	ENSP00000416518	GPD1L	1	-	c.20C>T	p.T7I	non-syn	NA	-	-	-	TOLERATED	B	-	het	1
16	3	32180209	C	A	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	c.356C>A	p.T119N	non-syn	NA	-	-	lod=113:474	DAMAGING	B	-	het	1
17	3	32180209	C	A	ENST00000428684	ENSG00000152642	32147181	32210205	ENSP00000392199	GPD1L	1	-	c.178C>A	p.P60T	non-syn	NA	-	-	lod=113:474	DAMAGING	B	-	het	1
18	3	32180209	C	A	ENST00000429432	ENSG00000152642	32147181	32210205	ENSP00000393861	GPD1L	1	-	c.239C>A	p.T80N	non-syn	NA	-	-	lod=113:474	DAMAGING	B	-	het	1
19	3	32180209	C	A	ENST00000431009	ENSG00000152642	32147181	32210205	ENSP00000416518	GPD1L	1	-	c.239C>A	p.T80N	non-syn	NA	-	-	lod=113:474	DAMAGING	B	-	het	1
20	3	32180227	G	A	ENST00000282541	ENSG00000152642	32147181	32210205	ENSP00000282541	GPD1L	1	GPD1L_HUMAN	-	-	+8bp 5'_splice_site	rs72546650	0.0329	A=0/G=8600;A=90/G=4316;A=90/G=12916	-	-	-	-	het	3

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GPD1L 3:32147181..32210205 region Gbrowse