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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 IMPDH1:

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
ENSG00000106348	IMPDH1	1	2	17	ENSG00000106348	ENST00000460045		IMP (inosine 5'-monophosphate) dehydrogenase 1 [Source:HGNC Symbol;Acc:6052]	7	128032331	128050306	-1	q32.1	128034329	128035225	IMPDH1	IMPDH1-015	HGNC Symbol	HGNC transcript name	18	57.06	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	3614	6052	IMPDH1		27506

MSeqDR Master Exome Data Set M1: 474 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	7	128032340	C	T	ENST00000338791	ENSG00000106348	128032331	128050306	ENSP00000345096	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
2	7	128032340	C	T	ENST00000338791	ENSG00000106348	128032331	128050306	ENSP00000345096	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
3	7	128032340	C	T	ENST00000354269	ENSG00000106348	128032331	128050306	ENSP00000346219	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
4	7	128032340	C	T	ENST00000354269	ENSG00000106348	128032331	128050306	ENSP00000346219	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
5	7	128032340	C	T	ENST00000378717	ENSG00000106348	128032331	128050306	ENSP00000367989	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
6	7	128032340	C	T	ENST00000378717	ENSG00000106348	128032331	128050306	ENSP00000367989	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
7	7	128032340	C	T	ENST00000419067	ENSG00000106348	128032331	128050306	ENSP00000399400	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
8	7	128032340	C	T	ENST00000419067	ENSG00000106348	128032331	128050306	ENSP00000399400	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
9	7	128032340	C	T	ENST00000469328	ENSG00000106348	128032331	128050306	ENSP00000420756	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
10	7	128032340	C	T	ENST00000469328	ENSG00000106348	128032331	128050306	ENSP00000420756	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
11	7	128032340	C	T	ENST00000484496	ENSG00000106348	128032331	128050306	ENSP00000418742	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
12	7	128032340	C	T	ENST00000484496	ENSG00000106348	128032331	128050306	ENSP00000418742	IMPDH1	-1	-	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
13	7	128032340	C	T	ENST00000496200	ENSG00000106348	128032331	128050306	ENSP00000420803	IMPDH1	-1	IMDH1_HUMAN	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	het	7
14	7	128032340	C	T	ENST00000496200	ENSG00000106348	128032331	128050306	ENSP00000420803	IMPDH1	-1	IMDH1_HUMAN	-	-	3'_UTR	rs186714165	0.0052	-	-	-	-	-	hom	1
15	7	128032423	G	A	ENST00000338791	ENSG00000106348	128032331	128050306	ENSP00000345096	IMPDH1	-1	-	-	-	3'_UTR	NA	-	-	lod=171:519	-	-	-	het	1
16	7	128032423	G	A	ENST00000343214	ENSG00000106348	128032331	128050306	ENSP00000342438	IMPDH1	-1	IMDH1_HUMAN	-	-	3'_UTR	NA	-	-	lod=171:519	-	-	-	het	1
17	7	128032423	G	A	ENST00000348127	ENSG00000106348	128032331	128050306	ENSP00000265385	IMPDH1	-1	IMDH1_HUMAN	-	-	3'_UTR	NA	-	-	lod=171:519	-	-	-	het	1
18	7	128032423	G	A	ENST00000354269	ENSG00000106348	128032331	128050306	ENSP00000346219	IMPDH1	-1	-	-	-	3'_UTR	NA	-	-	lod=171:519	-	-	-	het	1
19	7	128032423	G	A	ENST00000378717	ENSG00000106348	128032331	128050306	ENSP00000367989	IMPDH1	-1	-	-	-	3'_UTR	NA	-	-	lod=171:519	-	-	-	het	1
20	7	128032423	G	A	ENST00000419067	ENSG00000106348	128032331	128050306	ENSP00000399400	IMPDH1	-1	-	-	-	3'_UTR	NA	-	-	lod=171:519	-	-	-	het	1

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Transcripts and variants in the surrounding IMPDH1 7:128032331..128050306 region Gbrowse