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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 CEP120:

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
ENSG00000168944	CEP120	0	0	1	ENSG00000168944	ENST00000306467	ENSP00000303058	centrosomal protein 120kDa [Source:HGNC Symbol;Acc:26690]	5	122680579	122759286	-1	q23.2	122680579	122758997	CEP120	CEP120-001	HGNC Symbol	HGNC transcript name	10	36.19	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	153241	26690	CEP120		27527

MSeqDR Master Exome Data Set M1: 428 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	5	122680580	C	+A	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs113611433	-	-	-	-	-	-	het	287
2	5	122680580	C	+A	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs113611433	-	-	-	-	-	-	hom	316
3	5	122680580	C	+A	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs113611433	-	-	-	-	-	-	het	287
4	5	122680580	C	+A	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs113611433	-	-	-	-	-	-	hom	316
5	5	122680580	C	+A	ENST00000328236	ENSG00000168944	122680579	122759286	ENSP00000327504	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs113611433	-	-	-	-	-	-	het	287
6	5	122680580	C	+A	ENST00000328236	ENSG00000168944	122680579	122759286	ENSP00000327504	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs113611433	-	-	-	-	-	-	hom	316
7	5	122680667	T	G	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs1047484	0.20518	-	-	-	-	-	hom	42
8	5	122680667	T	G	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs1047484	0.20518	-	-	-	-	-	het	254
9	5	122680667	T	G	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs1047484	0.20518	-	-	-	-	-	hom	42
10	5	122680667	T	G	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs1047484	0.20518	-	-	-	-	-	het	254
11	5	122680667	T	G	ENST00000328236	ENSG00000168944	122680579	122759286	ENSP00000327504	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs1047484	0.20518	-	-	-	-	-	hom	42
12	5	122680667	T	G	ENST00000328236	ENSG00000168944	122680579	122759286	ENSP00000327504	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs1047484	0.20518	-	-	-	-	-	het	254
13	5	122680672	A	G	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs74667944	0.0776	-	-	-	-	-	het	13
14	5	122680672	A	G	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs74667944	0.0776	-	-	-	-	-	hom	3
15	5	122680672	A	G	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs74667944	0.0776	-	-	-	-	-	het	13
16	5	122680672	A	G	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs74667944	0.0776	-	-	-	-	-	hom	3
17	5	122680672	A	G	ENST00000328236	ENSG00000168944	122680579	122759286	ENSP00000327504	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs74667944	0.0776	-	-	-	-	-	het	13
18	5	122680672	A	G	ENST00000328236	ENSG00000168944	122680579	122759286	ENSP00000327504	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs74667944	0.0776	-	-	-	-	-	hom	3
19	5	122680712	C	T	ENST00000306467	ENSG00000168944	122680579	122759286	ENSP00000303058	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs188849005	0.0014	-	lod=109:471	-	-	-	het	4
20	5	122680712	C	T	ENST00000306481	ENSG00000168944	122680579	122759286	ENSP00000307419	CEP120	-1	CE120_HUMAN	-	-	3'_UTR	rs188849005	0.0014	-	lod=109:471	-	-	-	het	4

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CEP120 5:122680579..122759286 region Gbrowse