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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 AUH:

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
ENSG00000148090	AUH	1	61	28	ENSG00000148090	ENST00000375731	ENSP00000364883	AU RNA binding protein/enoyl-CoA hydratase [Source:HGNC Symbol;Acc:890]	9	93976097	94124195	-1	q22.31	93976097	94124195	AUH	AUH-001	HGNC Symbol	HGNC transcript name	6	38.91	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	549	890	AUH	NM_001698	27518

MSeqDR Master Exome Data Set M1: 54 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	9	93976405	T	A	ENST00000303617	ENSG00000148090	93976097	94124195	ENSP00000307334	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
2	9	93976405	T	A	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
3	9	93976405	T	A	ENST00000473695	ENSG00000148090	93976097	94124195	-	AUH	-1	-	c.469A>T	p.N157Y	non-syn	NA	-	-	-	-	-	-	het	4
4	9	93976410	A	-CT	ENST00000303617	ENSG00000148090	93976097	94124195	ENSP00000307334	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	7
5	9	93976410	A	-CT	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	7
6	9	93976410	A	-CT	ENST00000473695	ENSG00000148090	93976097	94124195	-	AUH	-1	-	c.462_463del	p.V155NA	non-syn	NA	-	-	lod=15:259	-	-	-	het	7
7	9	93976491	G	A	ENST00000303617	ENSG00000148090	93976097	94124195	ENSP00000307334	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	9	93976491	G	A	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
9	9	93976491	G	A	ENST00000473695	ENSG00000148090	93976097	94124195	-	AUH	-1	-	c.383C>T	p.S128F	non-syn	NA	-	-	-	-	-	-	het	4
10	9	93976523	T	C	ENST00000303617	ENSG00000148090	93976097	94124195	ENSP00000307334	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	rs75505223	0.0575	-	lod=31:336	-	-	-	hom	1
11	9	93976523	T	C	ENST00000303617	ENSG00000148090	93976097	94124195	ENSP00000307334	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	rs75505223	0.0575	-	lod=31:336	-	-	-	het	7
12	9	93976523	T	C	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	rs75505223	0.0575	-	lod=31:336	-	-	-	hom	1
13	9	93976523	T	C	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	-	-	3'_UTR	rs75505223	0.0575	-	lod=31:336	-	-	-	het	7
14	9	93976523	T	C	ENST00000473695	ENSG00000148090	93976097	94124195	-	AUH	-1	-	c.351A>G	p.E117E	syn	rs75505223	0.0575	-	lod=31:336	-	-	-	hom	1
15	9	93976523	T	C	ENST00000473695	ENSG00000148090	93976097	94124195	-	AUH	-1	-	c.351A>G	p.E117E	syn	rs75505223	0.0575	-	lod=31:336	-	-	-	het	7
16	9	94057019	A	G	ENST00000422391	ENSG00000148090	93976097	94124195	ENSP00000402026	AUH	-1	-	c.716T>C	p.I239T	non-syn	rs182851231	0.00455	-	-	TOLERATED	-	-	het	1
17	9	94087618	C	G	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	c.487G>C	p.A163P	non-syn	NA	-	-	lod=307:581	TOLERATED	B	-	het	2
18	9	94087618	C	G	ENST00000422391	ENSG00000148090	93976097	94124195	ENSP00000402026	AUH	-1	-	c.487G>C	p.A163P	non-syn	NA	-	-	lod=307:581	TOLERATED	B	-	het	2
19	9	94087618	C	G	ENST00000478465	ENSG00000148090	93976097	94124195	-	AUH	-1	-	c.647G>C	p.S216T	non-syn	NA	-	-	lod=307:581	TOLERATED	B	-	het	2
20	9	94087622	T	G	ENST00000375731	ENSG00000148090	93976097	94124195	ENSP00000364883	AUH	-1	AUHM_HUMAN	c.483A>C	p.I161I	syn	rs7874056	0.1729	G=903/T=7697;G=799/T=3607;G=1702/T=11304	lod=307:581	-	-	-	het	179

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Transcripts and variants in the surrounding AUH 9:93976097..94124195 region Gbrowse