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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 MEN1:

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
ENSG00000133895	MEN1	0	0	175	ENSG00000133895	ENST00000440873	ENSP00000413944	multiple endocrine neoplasia I [Source:HGNC Symbol;Acc:7010]	11	64570982	64578766	-1	q13.1	64573714	64578030	MEN1	MEN1-009	HGNC Symbol	HGNC transcript name	17	57.78	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	4221	7010	MEN1		27504

MSeqDR Master Exome Data Set M1: 455 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	64571012	C	T	ENST00000312049	ENSG00000133895	64570982	64578766	ENSP00000308975	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
2	11	64571012	C	T	ENST00000315422	ENSG00000133895	64570982	64578766	ENSP00000323747	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
3	11	64571012	C	T	ENST00000337652	ENSG00000133895	64570982	64578766	ENSP00000337088	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
4	11	64571012	C	T	ENST00000377316	ENSG00000133895	64570982	64578766	ENSP00000366533	MEN1	-1	-	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
5	11	64571012	C	T	ENST00000377321	ENSG00000133895	64570982	64578766	ENSP00000366538	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
6	11	64571012	C	T	ENST00000377326	ENSG00000133895	64570982	64578766	ENSP00000366543	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
7	11	64571012	C	T	ENST00000394374	ENSG00000133895	64570982	64578766	ENSP00000377899	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
8	11	64571012	C	T	ENST00000394376	ENSG00000133895	64570982	64578766	ENSP00000377901	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
9	11	64571012	C	T	ENST00000443283	ENSG00000133895	64570982	64578766	ENSP00000396940	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	rs117705251	0.0117	-	lod=129:489	-	-	-	het	2
10	11	64571113	A	G	ENST00000312049	ENSG00000133895	64570982	64578766	ENSP00000308975	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	11	64571113	A	G	ENST00000315422	ENSG00000133895	64570982	64578766	ENSP00000323747	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	11	64571113	A	G	ENST00000337652	ENSG00000133895	64570982	64578766	ENSP00000337088	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	11	64571113	A	G	ENST00000377316	ENSG00000133895	64570982	64578766	ENSP00000366533	MEN1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	11	64571113	A	G	ENST00000377321	ENSG00000133895	64570982	64578766	ENSP00000366538	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	11	64571113	A	G	ENST00000377326	ENSG00000133895	64570982	64578766	ENSP00000366543	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	11	64571113	A	G	ENST00000394374	ENSG00000133895	64570982	64578766	ENSP00000377899	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	11	64571113	A	G	ENST00000394376	ENSG00000133895	64570982	64578766	ENSP00000377901	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	11	64571113	A	G	ENST00000443283	ENSG00000133895	64570982	64578766	ENSP00000396940	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	11	64571146	G	A	ENST00000312049	ENSG00000133895	64570982	64578766	ENSP00000308975	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	11	64571146	G	A	ENST00000315422	ENSG00000133895	64570982	64578766	ENSP00000323747	MEN1	-1	MEN1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** 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.

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Transcripts and variants in the surrounding MEN1 11:64570982..64578766 region Gbrowse