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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 IFNGR1:

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
ENSG00000027697	IFNGR1	0	0	38	ENSG00000027697	ENST00000367739	ENSP00000356713	interferon gamma receptor 1 [Source:HGNC Symbol;Acc:5439]	6	137518621	137540586	-1	q23.3	137518621	137540586	IFNGR1	IFNGR1-001	HGNC Symbol	HGNC transcript name	6	38.81	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3459	5439	IFNGR1	NM_000416	27515

MSeqDR Master Exome Data Set M1: 122 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	6	137518635	C	-TTTA	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	NA	-	-	lod=23:304	-	-	-	het	1
2	6	137518706	T	G	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs7750706	-	-	-	-	-	-	het	1
3	6	137518851	C	A	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
4	6	137518871	C	T	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	6	137518951	A	T	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs1887417	0.0263	-	-	-	-	-	het	19
6	6	137518951	A	T	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs1887417	0.0263	-	-	-	-	-	hom	1
7	6	137518962	T	C	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs1887416	0.0196	-	-	-	-	-	het	8
8	6	137518962	T	C	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs1887416	0.0196	-	-	-	-	-	hom	1
9	6	137518966	T	-A	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs11286731	-	-	-	-	-	-	het	5
10	6	137519028	C	T	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs121913189	0.0072	-	-	-	-	-	hom	1
11	6	137519028	C	T	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs121913189	0.0072	-	-	-	-	-	het	5
12	6	137519028	C	T	ENST00000543628	ENSG00000027697	137518621	137540586	ENSP00000443282	IFNGR1	-1	-	-	-	3'_UTR	rs121913189	0.0072	-	-	-	-	-	hom	1
13	6	137519028	C	T	ENST00000543628	ENSG00000027697	137518621	137540586	ENSP00000443282	IFNGR1	-1	-	-	-	3'_UTR	rs121913189	0.0072	-	-	-	-	-	het	5
14	6	137519040	C	A	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs7769141	0.0071	-	-	-	-	-	het	1
15	6	137519040	C	A	ENST00000543628	ENSG00000027697	137518621	137540586	ENSP00000443282	IFNGR1	-1	-	-	-	3'_UTR	rs7769141	0.0071	-	-	-	-	-	het	1
16	6	137519097	C	A	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs55665036	0.0146	-	-	-	-	-	het	21
17	6	137519097	C	A	ENST00000543628	ENSG00000027697	137518621	137540586	ENSP00000443282	IFNGR1	-1	-	-	-	3'_UTR	rs55665036	0.0146	-	-	-	-	-	het	21
18	6	137519127	C	T	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs17181562	0.01449	T=100/C=8500;T=10/C=4396;T=110/C=12896	-	-	-	-	het	30
19	6	137519127	C	T	ENST00000543628	ENSG00000027697	137518621	137540586	ENSP00000443282	IFNGR1	-1	-	-	-	3'_UTR	rs17181562	0.01449	T=100/C=8500;T=10/C=4396;T=110/C=12896	-	-	-	-	het	30
20	6	137519160	A	G	ENST00000367739	ENSG00000027697	137518621	137540586	ENSP00000356713	IFNGR1	-1	INGR1_HUMAN	-	-	3'_UTR	rs116884638	0.0011	-	-	-	-	-	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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Transcripts and variants in the surrounding IFNGR1 6:137518621..137540586 region Gbrowse