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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 CBL:

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
ENSG00000110395	CBL	0	0	104	ENSG00000110395	ENST00000264033	ENSP00000264033	Cbl proto-oncogene, E3 ubiquitin protein ligase [Source:HGNC Symbol;Acc:1541]	11	119076752	119178859	1	q23.3	119076752	119178859	CBL	CBL-001	HGNC Symbol	HGNC transcript name	1	41.52	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	867	1541	CBL	NM_005188	27504

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	11	119076793	G	T	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
2	11	119076904	G	A	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
3	11	119076963	C	T	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=49:385	-	-	-	het	4
4	11	119076993	G	A	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
5	11	119076999	C	-CGGCGGCGGCGGCGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	1
6	11	119076999	C	-CGGCGGCGGCGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	2
7	11	119076999	C	-CGGCGGCGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	1
8	11	119076999	C	-CGGCGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	6
9	11	119076999	C	+CGGCGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	1
10	11	119076999	C	-CGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	2
11	11	119076999	C	+CGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	5
12	11	119076999	C	-CGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	6
13	11	119076999	C	+CGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	37
14	11	119076999	C	+CGGTGGCGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	6
15	11	119077000	C	+GGT	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	lod=41:366	-	-	-	het	2
16	11	119077003	C	T	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	rs7108857	0.2365	-	lod=41:366	-	-	-	het	115
17	11	119077003	C	T	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	rs7108857	0.2365	-	lod=41:366	-	-	-	hom	51
18	11	119077026	G	+C	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
19	11	119077032	G	A	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
20	11	119077033	C	+GGG	ENST00000264033	ENSG00000110395	119076752	119178859	ENSP00000264033	CBL	1	CBL_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1

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Transcripts and variants in the surrounding CBL 11:119076752..119178859 region Gbrowse