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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 CDT1:

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
ENSG00000167513	CDT1	0	0	32	ENSG00000167513	ENST00000301019	ENSP00000301019	chromatin licensing and DNA replication factor 1 [Source:HGNC Symbol;Acc:24576]	16	88869621	88875666	1	q24.3	88869621	88875666	CDT1	CDT1-001	HGNC Symbol	HGNC transcript name	3	65.55	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	81620	24576	CDT1	NM_030928	27514

MSeqDR Master Exome Data Set M1: 111 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	16	88869716	A	G	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs150896802	0.0563	-	lod=64:414	-	-	-	het	2
2	16	88869747	A	G	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs149625789	0.0421	-	lod=64:414	-	-	-	het	2
3	16	88869942	C	A	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs139880672	0.0775	-	-	-	-	-	het	1
4	16	88869942	C	A	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs139880672	0.0775	-	-	-	-	-	hom	1
5	16	88870009	G	A	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
6	16	88870034	C	G	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs4356464	0.1159	-	-	-	-	-	het	145
7	16	88870034	C	G	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs4356464	0.1159	-	-	-	-	-	hom	21
8	16	88870067	G	A	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	0.0345	-	-	-	-	-	het	2
9	16	88870099	T	C	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs865103	0.3789	-	-	-	-	-	hom	176
10	16	88870099	T	C	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs865103	0.3789	-	-	-	-	-	het	272
11	16	88870104	T	-CCCCCCGTGCTCTG	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
12	16	88870105	C	A	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	0.0373	-	-	-	-	-	het	10
13	16	88870159	C	T	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	11
14	16	88870161	C	G	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	-	-	lod=20:289	-	-	-	het	1
15	16	88870199	C	G	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
16	16	88870208	C	T	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	-	-	5'_UTR	rs201346768	-	T=1/C=5413;T=0/C=2346;T=1/C=7759	-	-	-	-	het	3
17	16	88870314	G	T	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	c.75G>T	p.L25L	syn	NA	-	-	-	-	-	-	het	2
18	16	88870350	C	T	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	c.111C>T	p.L37L	syn	NA	-	-	-	-	-	-	het	9
19	16	88870350	C	T	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	c.111C>T	p.L37L	syn	NA	-	-	-	-	-	-	hom	1
20	16	88870369	A	C	ENST00000301019	ENSG00000167513	88869621	88875666	ENSP00000301019	CDT1	1	CDT1_HUMAN	c.130A>C	p.T44P	non-syn	NA	0.031	-	-	-	NA	-	het	1

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Transcripts and variants in the surrounding CDT1 16:88869621..88875666 region Gbrowse