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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 MAX:

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
ENSG00000125952	MAX	0	0	13	ENSG00000125952	ENST00000556892	ENSP00000452206	MYC associated factor X [Source:HGNC Symbol;Acc:6913]	14	65472892	65569413	-1	q23.3	65543327	65569413	MAX	MAX-017	HGNC Symbol	HGNC transcript name	18	44.69	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	4149	6913	MAX		27520

MSeqDR Master Exome Data Set M1: 262 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	14	65472908	G	A	ENST00000341653	ENSG00000125952	65472892	65569413	ENSP00000342482	MAX	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	14	65473007	G	T	ENST00000341653	ENSG00000125952	65472892	65569413	ENSP00000342482	MAX	-1	-	-	-	-5bp 3'_splice_site	rs201052112	-	T=8/G=8592;T=1/G=4405;T=9/G=12997	-	-	-	-	het	2
3	14	65541964	C	T	ENST00000284165	ENSG00000125952	65472892	65569413	ENSP00000284165	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
4	14	65541964	C	T	ENST00000358402	ENSG00000125952	65472892	65569413	ENSP00000351175	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
5	14	65541964	C	T	ENST00000394606	ENSG00000125952	65472892	65569413	ENSP00000378104	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
6	14	65541964	C	T	ENST00000555932	ENSG00000125952	65472892	65569413	ENSP00000450763	MAX	-1	-	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
7	14	65541965	G	A	ENST00000284165	ENSG00000125952	65472892	65569413	ENSP00000284165	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	3
8	14	65541965	G	A	ENST00000358402	ENSG00000125952	65472892	65569413	ENSP00000351175	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	3
9	14	65541965	G	A	ENST00000394606	ENSG00000125952	65472892	65569413	ENSP00000378104	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	3
10	14	65541965	G	A	ENST00000555932	ENSG00000125952	65472892	65569413	ENSP00000450763	MAX	-1	-	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	3
11	14	65542042	C	T	ENST00000284165	ENSG00000125952	65472892	65569413	ENSP00000284165	MAX	-1	MAX_HUMAN	-	-	3'_UTR	rs144346635	0.0043	-	lod=988:706	-	-	-	het	1
12	14	65542042	C	T	ENST00000358402	ENSG00000125952	65472892	65569413	ENSP00000351175	MAX	-1	MAX_HUMAN	-	-	3'_UTR	rs144346635	0.0043	-	lod=988:706	-	-	-	het	1
13	14	65542042	C	T	ENST00000394606	ENSG00000125952	65472892	65569413	ENSP00000378104	MAX	-1	MAX_HUMAN	-	-	3'_UTR	rs144346635	0.0043	-	lod=988:706	-	-	-	het	1
14	14	65542042	C	T	ENST00000555932	ENSG00000125952	65472892	65569413	ENSP00000450763	MAX	-1	-	-	-	3'_UTR	rs144346635	0.0043	-	lod=988:706	-	-	-	het	1
15	14	65542057	C	T	ENST00000284165	ENSG00000125952	65472892	65569413	ENSP00000284165	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
16	14	65542057	C	T	ENST00000358402	ENSG00000125952	65472892	65569413	ENSP00000351175	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
17	14	65542057	C	T	ENST00000394606	ENSG00000125952	65472892	65569413	ENSP00000378104	MAX	-1	MAX_HUMAN	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
18	14	65542057	C	T	ENST00000555932	ENSG00000125952	65472892	65569413	ENSP00000450763	MAX	-1	-	-	-	3'_UTR	NA	-	-	lod=988:706	-	-	-	het	1
19	14	65542067	C	G	ENST00000284165	ENSG00000125952	65472892	65569413	ENSP00000284165	MAX	-1	MAX_HUMAN	-	-	3'_UTR	rs4902357	0.6725	-	lod=988:706	-	-	-	hom	108
20	14	65542067	C	G	ENST00000284165	ENSG00000125952	65472892	65569413	ENSP00000284165	MAX	-1	MAX_HUMAN	-	-	3'_UTR	rs4902357	0.6725	-	lod=988:706	-	-	-	het	346

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Transcripts and variants in the surrounding MAX 14:65472892..65569413 region Gbrowse