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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 ITPR1:

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
ENSG00000150995	ITPR1	1	0	18	ENSG00000150995	ENST00000467545		inositol 1,4,5-trisphosphate receptor, type 1 [Source:HGNC Symbol;Acc:6180]	3	4535032	4889524	1	p26.1	4836684	4852990	ITPR1	ITPR1-018	HGNC Symbol	HGNC transcript name	20	42.9	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	3708	6180	ITPR1		27517

MSeqDR Master Exome Data Set M1: 988 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	3	4535142	G	-AA	ENST00000302640	ENSG00000150995	4535032	4889524	ENSP00000306253	ITPR1	1	-	-	-	5'_UTR	NA	-	-	lod=128:488	-	-	-	het	1
2	3	4535142	G	-AA	ENST00000354582	ENSG00000150995	4535032	4889524	ENSP00000346595	ITPR1	1	-	-	-	5'_UTR	NA	-	-	lod=128:488	-	-	-	het	1
3	3	4535142	G	-AA	ENST00000357086	ENSG00000150995	4535032	4889524	ENSP00000349597	ITPR1	1	ITPR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=128:488	-	-	-	het	1
4	3	4535142	G	-AA	ENST00000423119	ENSG00000150995	4535032	4889524	ENSP00000405934	ITPR1	1	-	-	-	5'_UTR	NA	-	-	lod=128:488	-	-	-	het	1
5	3	4535142	G	-AA	ENST00000456211	ENSG00000150995	4535032	4889524	ENSP00000397885	ITPR1	1	ITPR1_HUMAN	-	-	5'_UTR	NA	-	-	lod=128:488	-	-	-	het	1
6	3	4535142	G	-AA	ENST00000467056	ENSG00000150995	4535032	4889524	-	ITPR1	1	-	c.110_111del	p.E37NA	non-syn	NA	-	-	lod=128:488	-	-	-	het	1
7	3	4558232	G	A	ENST00000302640	ENSG00000150995	4535032	4889524	ENSP00000306253	ITPR1	1	-	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
8	3	4558232	G	A	ENST00000354582	ENSG00000150995	4535032	4889524	ENSP00000346595	ITPR1	1	-	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
9	3	4558232	G	A	ENST00000357086	ENSG00000150995	4535032	4889524	ENSP00000349597	ITPR1	1	ITPR1_HUMAN	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
10	3	4558232	G	A	ENST00000423119	ENSG00000150995	4535032	4889524	ENSP00000405934	ITPR1	1	-	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
11	3	4558232	G	A	ENST00000443694	ENSG00000150995	4535032	4889524	ENSP00000401671	ITPR1	1	-	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
12	3	4558232	G	A	ENST00000456211	ENSG00000150995	4535032	4889524	ENSP00000397885	ITPR1	1	ITPR1_HUMAN	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
13	3	4558232	G	A	ENST00000467056	ENSG00000150995	4535032	4889524	-	ITPR1	1	-	c.405G>A	p.A135A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
14	3	4558232	G	A	ENST00000544951	ENSG00000150995	4535032	4889524	ENSP00000440564	ITPR1	1	-	c.57G>A	p.A19A	syn	rs200534989	-	A=1/G=8243;A=4/G=3826;A=5/G=12069	lod=250:559	-	-	-	het	5
15	3	4669478	C	G	ENST00000302640	ENSG00000150995	4535032	4889524	ENSP00000306253	ITPR1	1	-	c.195C>G	p.R65R	syn	NA	-	-	lod=433:618	-	-	-	het	1
16	3	4669478	C	G	ENST00000354582	ENSG00000150995	4535032	4889524	ENSP00000346595	ITPR1	1	-	c.195C>G	p.R65R	syn	NA	-	-	lod=433:618	-	-	-	het	1
17	3	4669478	C	G	ENST00000357086	ENSG00000150995	4535032	4889524	ENSP00000349597	ITPR1	1	ITPR1_HUMAN	c.195C>G	p.R65R	syn	NA	-	-	lod=433:618	-	-	-	het	1
18	3	4669478	C	G	ENST00000423119	ENSG00000150995	4535032	4889524	ENSP00000405934	ITPR1	1	-	c.195C>G	p.R65R	syn	NA	-	-	lod=433:618	-	-	-	het	1
19	3	4669478	C	G	ENST00000443694	ENSG00000150995	4535032	4889524	ENSP00000401671	ITPR1	1	-	c.195C>G	p.R65R	syn	NA	-	-	lod=433:618	-	-	-	het	1
20	3	4669478	C	G	ENST00000456211	ENSG00000150995	4535032	4889524	ENSP00000397885	ITPR1	1	ITPR1_HUMAN	c.195C>G	p.R65R	syn	NA	-	-	lod=433:618	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ITPR1 3:4535032..4889524 region Gbrowse