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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 ENSG00000158290:

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
ENSG00000158290	CUL4B	0	0	10	ENSG00000158290	ENST00000371322	ENSP00000360373	cullin 4B [Source:HGNC Symbol;Acc:2555]	X	119658464	119709649	-1	q24	119658464	119694555	CUL4B	CUL4B-003	HGNC Symbol	HGNC transcript name	7	39.25	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8450	2555	CUL4B	NM_001079872	27516

MSeqDR Master Exome Data Set M1: 93 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	X	119658624	C	-T	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	X	119658696	G	A	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	X	119658696	G	A	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
4	X	119658708	C	T	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	het	1
5	X	119658708	C	T	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	lod=16:265	-	-	-	hom	1
6	X	119658859	G	A	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
7	X	119659291	C	+A	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
8	X	119659543	T	G	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	X	119659545	A	C	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	X	119659545	A	C	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
11	X	119659773	A	C	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	rs58096878	0.0222	-	-	-	-	-	het	1
12	X	119659941	C	T	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	rs1057116	0.1543	-	-	-	-	-	het	12
13	X	119659941	C	T	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	rs1057116	0.1543	-	-	-	-	-	hom	4
14	X	119660028	G	A	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	lod=76:432	-	-	-	het	1
15	X	119660112	A	G	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	lod=477:628	-	-	-	het	1
16	X	119660186	A	G	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	NA	-	-	lod=477:628	-	-	-	het	1
17	X	119660280	G	-GTGT	ENST00000336592	ENSG00000158290	119658464	119709649	ENSP00000338919	CUL4B	-1	-	-	-	3'_UTR	rs199865454	-	-	lod=477:628	-	-	-	het	4
18	X	119660280	G	-GTGT	ENST00000336592	ENSG00000158290	119658464	119709649	ENSP00000338919	CUL4B	-1	-	-	-	3'_UTR	rs199865454	-	-	lod=477:628	-	-	-	hom	2
19	X	119660280	G	-GTGT	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	rs199865454	-	-	lod=477:628	-	-	-	het	4
20	X	119660280	G	-GTGT	ENST00000371322	ENSG00000158290	119658464	119709649	ENSP00000360373	CUL4B	-1	CUL4B_HUMAN	-	-	3'_UTR	rs199865454	-	-	lod=477:628	-	-	-	hom	2

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Transcripts and variants in the surrounding CUL4B X:119658464..119709649 region Gbrowse