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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 CANT1:

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
ENSG00000171302	CANT1	0	0	19	ENSG00000171302	ENST00000392446	ENSP00000376241	calcium activated nucleotidase 1 [Source:HGNC Symbol;Acc:19721]	17	76987799	77005949	-1	q25.3	76987799	77005812	CANT1	CANT1-001	HGNC Symbol	HGNC transcript name	15	57.12	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	124583	19721	CANT1		27509

MSeqDR Master Exome Data Set M1: 143 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	17	76988641	G	A	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs189700956	0.0059	-	-	-	-	-	het	1
2	17	76988641	G	A	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs189700956	0.0059	-	-	-	-	-	het	1
3	17	76988641	G	A	ENST00000592228	ENSG00000171302	76987799	77005949	ENSP00000466743	CANT1	-1	-	-	-	3'_UTR	rs189700956	0.0059	-	-	-	-	-	het	1
4	17	76988668	T	C	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs75126416	0.0393	-	-	-	-	-	het	26
5	17	76988668	T	C	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs75126416	0.0393	-	-	-	-	-	het	26
6	17	76988668	T	C	ENST00000592228	ENSG00000171302	76987799	77005949	ENSP00000466743	CANT1	-1	-	-	-	3'_UTR	rs75126416	0.0393	-	-	-	-	-	het	26
7	17	76988785	G	A	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs11891	0.1979	A=369/G=3613;A=328/G=1424;A=697/G=5037	-	-	-	-	het	164
8	17	76988785	G	A	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs11891	0.1979	A=369/G=3613;A=328/G=1424;A=697/G=5037	-	-	-	-	hom	5
9	17	76988785	G	A	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs11891	0.1979	A=369/G=3613;A=328/G=1424;A=697/G=5037	-	-	-	-	het	164
10	17	76988785	G	A	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs11891	0.1979	A=369/G=3613;A=328/G=1424;A=697/G=5037	-	-	-	-	hom	5
11	17	76988785	G	A	ENST00000592228	ENSG00000171302	76987799	77005949	ENSP00000466743	CANT1	-1	-	c.706C>T	p.R236C	non-syn	rs11891	0.1979	A=369/G=3613;A=328/G=1424;A=697/G=5037	-	-	-	-	het	164
12	17	76988785	G	A	ENST00000592228	ENSG00000171302	76987799	77005949	ENSP00000466743	CANT1	-1	-	c.706C>T	p.R236C	non-syn	rs11891	0.1979	A=369/G=3613;A=328/G=1424;A=697/G=5037	-	-	-	-	hom	5
13	17	76988803	C	T	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs115856545	0.02877	T=119/C=3863;T=28/C=1724;T=147/C=5587	-	-	-	-	het	31
14	17	76988803	C	T	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs115856545	0.02877	T=119/C=3863;T=28/C=1724;T=147/C=5587	-	-	-	-	het	31
15	17	76988803	C	T	ENST00000592228	ENSG00000171302	76987799	77005949	ENSP00000466743	CANT1	-1	-	c.688G>A	p.A230T	non-syn	rs115856545	0.02877	T=119/C=3863;T=28/C=1724;T=147/C=5587	-	-	-	-	het	31
16	17	76988961	A	G	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs114125762	0.03223	-	-	-	-	-	het	14
17	17	76988961	A	G	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs114125762	0.03223	-	-	-	-	-	hom	1
18	17	76988961	A	G	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs114125762	0.03223	-	-	-	-	-	het	14
19	17	76988961	A	G	ENST00000392446	ENSG00000171302	76987799	77005949	ENSP00000376241	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs114125762	0.03223	-	-	-	-	-	hom	1
20	17	76988968	A	G	ENST00000302345	ENSG00000171302	76987799	77005949	ENSP00000307674	CANT1	-1	CANT1_HUMAN	-	-	3'_UTR	rs79189369	0.0369	-	-	-	-	-	het	7

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Transcripts and variants in the surrounding CANT1 17:76987799..77005949 region Gbrowse