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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 CREBBP:

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
ENSG00000005339	CREBBP	0	0	218	ENSG00000005339	ENST00000262367	ENSP00000262367	CREB binding protein [Source:HGNC Symbol;Acc:2348]	16	3775055	3930727	-1	p13.3	3775055	3930727	CREBBP	CREBBP-001	HGNC Symbol	HGNC transcript name	12	45.01	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1387	2348	CREBBP	NM_004380	27514

MSeqDR Master Exome Data Set M1: 332 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	3775169	G	A	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs9392	0.3027	-	lod=459:624	-	-	-	het	231
2	16	3775169	G	A	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs9392	0.3027	-	lod=459:624	-	-	-	hom	35
3	16	3775181	G	T	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs182274996	0.0028	-	lod=41:366	-	-	-	het	4
4	16	3775352	C	G	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs117551000	0.0136	-	-	-	-	-	het	1
5	16	3775384	A	G	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	16	3775445	G	A	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs142823437	0.014	-	-	-	-	-	het	24
7	16	3775569	G	A	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs184111765	0.0031	-	-	-	-	-	het	16
8	16	3775717	C	T	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs1635400	0.99909	-	-	-	-	-	het	5
9	16	3775717	C	T	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs1635400	0.99909	-	-	-	-	-	hom	655
10	16	3775775	C	T	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
11	16	3775962	C	T	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs150224533	0.0105	-	-	-	-	-	het	22
12	16	3775978	G	C	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs76100714	0.0139	-	-	-	-	-	het	4
13	16	3775986	C	G	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs149345743	0.0071	-	-	-	-	-	het	33
14	16	3776077	C	T	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	16	3776171	T	G	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs3179351	0.1605	-	-	-	-	-	het	29
16	16	3776171	T	G	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs3179351	0.1605	-	-	-	-	-	hom	2
17	16	3776198	G	+A	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	rs200431216	-	-	-	-	-	-	het	20
18	16	3776230	G	A	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	16	3776240	C	+G	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	14
20	16	3776241	G	C	ENST00000262367	ENSG00000005339	3775055	3930727	ENSP00000262367	CREBBP	-1	CBP_HUMAN	-	-	3'_UTR	NA	0.0122	-	-	-	-	-	het	10

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Transcripts and variants in the surrounding CREBBP 16:3775055..3930727 region Gbrowse