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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 IL21R:

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
ENSG00000103522	IL21R	0	0	2	ENSG00000103522	ENST00000337929	ENSP00000338010	interleukin 21 receptor [Source:HGNC Symbol;Acc:6006]	16	27413483	27462115	1	p12.1	27413483	27461879	IL21R	IL21R-001	HGNC Symbol	HGNC transcript name	6	46.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	50615	6006	IL21R	NM_181078	27514

MSeqDR Master Exome Data Set M1: 206 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	16	27413566	C	T	ENST00000337929	ENSG00000103522	27413483	27462115	ENSP00000338010	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs2189521	0.6429	-	-	-	-	-	het	2
2	16	27413566	C	T	ENST00000337929	ENSG00000103522	27413483	27462115	ENSP00000338010	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs2189521	0.6429	-	-	-	-	-	hom	1
3	16	27413566	C	T	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs2189521	0.6429	-	-	-	-	-	het	2
4	16	27413566	C	T	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs2189521	0.6429	-	-	-	-	-	hom	1
5	16	27413850	C	T	ENST00000337929	ENSG00000103522	27413483	27462115	ENSP00000338010	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs961914	0.1145	-	-	-	-	-	het	1
6	16	27413850	C	T	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs961914	0.1145	-	-	-	-	-	het	1
7	16	27414467	T	A	ENST00000395755	ENSG00000103522	27413483	27462115	ENSP00000379104	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
8	16	27414467	T	A	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	4
9	16	27414502	G	A	ENST00000395755	ENSG00000103522	27413483	27462115	ENSP00000379104	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs117535117	0.00674	-	-	-	-	-	het	13
10	16	27414502	G	A	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs117535117	0.00674	-	-	-	-	-	het	13
11	16	27414524	C	T	ENST00000395755	ENSG00000103522	27413483	27462115	ENSP00000379104	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs114226509	0.02	-	-	-	-	-	het	1
12	16	27414524	C	T	ENST00000395755	ENSG00000103522	27413483	27462115	ENSP00000379104	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs114226509	0.02	-	-	-	-	-	hom	1
13	16	27414524	C	T	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs114226509	0.02	-	-	-	-	-	het	1
14	16	27414524	C	T	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs114226509	0.02	-	-	-	-	-	hom	1
15	16	27414536	C	T	ENST00000395755	ENSG00000103522	27413483	27462115	ENSP00000379104	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs79854010	0.0206	-	-	-	-	-	het	1
16	16	27414536	C	T	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	-	-	5'_UTR	rs79854010	0.0206	-	-	-	-	-	het	1
17	16	27445704	A	G	ENST00000337929	ENSG00000103522	27413483	27462115	ENSP00000338010	IL21R	1	IL21R_HUMAN	c.86A>G	p.Y29C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
18	16	27445704	A	G	ENST00000395754	ENSG00000103522	27413483	27462115	ENSP00000379103	IL21R	1	IL21R_HUMAN	c.86A>G	p.Y29C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
19	16	27445704	A	G	ENST00000395755	ENSG00000103522	27413483	27462115	ENSP00000379104	IL21R	1	IL21R_HUMAN	c.86A>G	p.Y29C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1
20	16	27445704	A	G	ENST00000564089	ENSG00000103522	27413483	27462115	ENSP00000456707	IL21R	1	IL21R_HUMAN	c.86A>G	p.Y29C	non-syn	NA	-	-	lod=17:272	DAMAGING	D	-	het	1

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Transcripts and variants in the surrounding IL21R 16:27413483..27462115 region Gbrowse