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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 ING1:

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
ENSG00000153487	ING1	0	0	3	ENSG00000153487	ENST00000338450	ENSP00000345202	inhibitor of growth family, member 1 [Source:HGNC Symbol;Acc:6062]	13	111365083	111373421	1	q34	111365083	111372522	ING1	ING1-003	HGNC Symbol	HGNC transcript name	5	52.48	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3621	6062	ING1	NM_198217	27513

MSeqDR Master Exome Data Set M1: 135 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	13	111365104	A	G	ENST00000338450	ENSG00000153487	111365083	111373421	ENSP00000345202	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs12875067	0.6538	-	-	-	-	-	het	276
2	13	111365104	A	G	ENST00000338450	ENSG00000153487	111365083	111373421	ENSP00000345202	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs12875067	0.6538	-	-	-	-	-	hom	379
3	13	111365122	T	C	ENST00000338450	ENSG00000153487	111365083	111373421	ENSP00000345202	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs189323995	0.0106	-	-	-	-	-	het	2
4	13	111365171	C	G	ENST00000338450	ENSG00000153487	111365083	111373421	ENSP00000345202	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs72663414	0.0074	-	-	-	-	-	het	14
5	13	111365310	C	T	ENST00000338450	ENSG00000153487	111365083	111373421	ENSP00000345202	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs115915862	0.0335	T=0/C=8460;T=43/C=4271;T=43/C=12731	lod=51:389	-	-	-	het	1
6	13	111365786	T	C	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs113583435	0.0238	-	lod=15:259	-	-	-	het	2
7	13	111365811	G	C	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
8	13	111365811	G	C	ENST00000375775	ENSG00000153487	111365083	111373421	ENSP00000364930	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	13	111365905	G	C	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs2289461	0.5621	-	-	-	-	-	het	276
10	13	111365905	G	C	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs2289461	0.5621	-	-	-	-	-	hom	317
11	13	111365905	G	C	ENST00000375775	ENSG00000153487	111365083	111373421	ENSP00000364930	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs2289461	0.5621	-	-	-	-	-	het	276
12	13	111365905	G	C	ENST00000375775	ENSG00000153487	111365083	111373421	ENSP00000364930	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs2289461	0.5621	-	-	-	-	-	hom	317
13	13	111365911	C	T	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	lod=17:272	-	-	-	het	1
14	13	111365911	C	T	ENST00000375775	ENSG00000153487	111365083	111373421	ENSP00000364930	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	lod=17:272	-	-	-	het	1
15	13	111365918	C	T	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	lod=17:272	-	-	-	het	1
16	13	111365918	C	T	ENST00000375775	ENSG00000153487	111365083	111373421	ENSP00000364930	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	lod=17:272	-	-	-	het	1
17	13	111365919	C	G	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
18	13	111365919	C	G	ENST00000375775	ENSG00000153487	111365083	111373421	ENSP00000364930	ING1	1	ING1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
19	13	111365952	G	T	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs71445078	0.2453	-	lod=30:333	-	-	-	het	165
20	13	111365952	G	T	ENST00000333219	ENSG00000153487	111365083	111373421	ENSP00000328436	ING1	1	ING1_HUMAN	-	-	5'_UTR	rs71445078	0.2453	-	lod=30:333	-	-	-	hom	26

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Transcripts and variants in the surrounding ING1 13:111365083..111373421 region Gbrowse