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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 IGSF3:

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
ENSG00000143061	IGSF3	0	0	1	ENSG00000143061	ENST00000369486	ENSP00000358498	immunoglobulin superfamily, member 3 [Source:HGNC Symbol;Acc:5950]	1	117117031	117210375	-1	p13.1	117117031	117210375	IGSF3	IGSF3-001	HGNC Symbol	HGNC transcript name	4	46.14	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3321	5950	IGSF3	NM_001007237	27511

MSeqDR Master Exome Data Set M1: 204 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	1	117117062	A	C	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	rs142424788	0.0029	-	lod=312:583	-	-	-	het	1
2	1	117117062	A	C	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	rs142424788	0.0029	-	lod=312:583	-	-	-	het	1
3	1	117117110	T	+A	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	rs201510658	-	-	lod=312:583	-	-	-	het	15
4	1	117117110	T	+A	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	rs201510658	-	-	lod=312:583	-	-	-	het	15
5	1	117117646	T	C	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	1	117117646	T	C	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	1	117117718	C	T	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	117117718	C	T	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	1	117117834	G	T	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	1	117117834	G	T	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	1	117117967	G	A	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	1	117117967	G	A	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	1	117118043	G	A	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	1	117118043	G	A	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
15	1	117118617	G	T	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	1	117118617	G	T	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	1	117118644	T	+A	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	1	117118644	T	+A	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	1	117118816	C	G	ENST00000369483	ENSG00000143061	117117031	117210375	ENSP00000358495	IGSF3	-1	-	-	-	3'_UTR	rs76203894	0.0848	-	-	-	-	-	het	5
20	1	117118816	C	G	ENST00000369486	ENSG00000143061	117117031	117210375	ENSP00000358498	IGSF3	-1	IGSF3_HUMAN	-	-	3'_UTR	rs76203894	0.0848	-	-	-	-	-	het	5

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Transcripts and variants in the surrounding IGSF3 1:117117031..117210375 region Gbrowse