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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 IL11RA:

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
ENSG00000137070	IL11RA	0	0	4	ENSG00000137070	ENST00000555003	ENSP00000450565	interleukin 11 receptor, alpha [Source:HGNC Symbol;Acc:5967]	9	34650699	34661889	1	p13.3	34650699	34661878	IL11RA	IL11RA-006	HGNC Symbol	HGNC transcript name	16	54.2	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	3590	5967	IL11RA		27518

MSeqDR Master Exome Data Set M1: 238 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	34650987	G	A	ENST00000555003	ENSG00000137070	34650699	34661889	ENSP00000450565	IL11RA	1	I11RA_HUMAN	-	-	5'_UTR	NA	-	-	lod=164:514	-	-	-	het	2
2	9	34655158	A	G	ENST00000555579	ENSG00000137070	34650699	34661889	-	IL11RA	1	-	c.31A>G	p.R11G	non-syn	NA	-	-	-	-	-	-	het	1
3	9	34655158	A	G	ENST00000555981	ENSG00000137070	34650699	34661889	ENSP00000450640	IL11RA	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	9	34655162	T	G	ENST00000555579	ENSG00000137070	34650699	34661889	-	IL11RA	1	-	c.35T>G	p.L12R	non-syn	NA	-	-	-	-	-	-	het	3
5	9	34655162	T	G	ENST00000555981	ENSG00000137070	34650699	34661889	ENSP00000450640	IL11RA	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
6	9	34655207	C	T	ENST00000318041	ENSG00000137070	34650699	34661889	ENSP00000326500	IL11RA	1	I11RA_HUMAN	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
7	9	34655207	C	T	ENST00000378817	ENSG00000137070	34650699	34661889	ENSP00000368094	IL11RA	1	I11RA_HUMAN	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
8	9	34655207	C	T	ENST00000441545	ENSG00000137070	34650699	34661889	ENSP00000394391	IL11RA	1	I11RA_HUMAN	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
9	9	34655207	C	T	ENST00000478308	ENSG00000137070	34650699	34661889	-	IL11RA	1	-	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
10	9	34655207	C	T	ENST00000553620	ENSG00000137070	34650699	34661889	ENSP00000452207	IL11RA	1	-	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
11	9	34655207	C	T	ENST00000555003	ENSG00000137070	34650699	34661889	ENSP00000450565	IL11RA	1	I11RA_HUMAN	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
12	9	34655207	C	T	ENST00000555247	ENSG00000137070	34650699	34661889	ENSP00000450707	IL11RA	1	-	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
13	9	34655207	C	T	ENST00000555579	ENSG00000137070	34650699	34661889	-	IL11RA	1	-	c.80C>T	p.S27F	non-syn	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
14	9	34655207	C	T	ENST00000555981	ENSG00000137070	34650699	34661889	ENSP00000450640	IL11RA	1	-	-	-	5'_UTR	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
15	9	34655207	C	T	ENST00000556531	ENSG00000137070	34650699	34661889	ENSP00000451447	IL11RA	1	-	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
16	9	34655207	C	T	ENST00000556792	ENSG00000137070	34650699	34661889	ENSP00000450543	IL11RA	1	-	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
17	9	34655207	C	T	ENST00000557298	ENSG00000137070	34650699	34661889	ENSP00000451553	IL11RA	1	-	-	-	-8bp 3'_splice_site	NA	-	T=1/C=8599;T=0/C=4406;T=1/C=13005	-	-	-	-	het	2
18	9	34655286	C	T	ENST00000318041	ENSG00000137070	34650699	34661889	ENSP00000326500	IL11RA	1	I11RA_HUMAN	c.72C>T	p.S24S	syn	rs34893971	0.0143	T=0/C=8600;T=83/C=4321;T=83/C=12921	-	-	-	-	het	1
19	9	34655286	C	T	ENST00000378817	ENSG00000137070	34650699	34661889	ENSP00000368094	IL11RA	1	I11RA_HUMAN	c.72C>T	p.S24S	syn	rs34893971	0.0143	T=0/C=8600;T=83/C=4321;T=83/C=12921	-	-	-	-	het	1
20	9	34655286	C	T	ENST00000441545	ENSG00000137070	34650699	34661889	ENSP00000394391	IL11RA	1	I11RA_HUMAN	c.72C>T	p.S24S	syn	rs34893971	0.0143	T=0/C=8600;T=83/C=4321;T=83/C=12921	-	-	-	-	het	1

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Transcripts and variants in the surrounding IL11RA 9:34650699..34661889 region Gbrowse