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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 SUFU:

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
ENSG00000107882	SUFU	0	0	14	ENSG00000107882	ENST00000369902	ENSP00000358918	suppressor of fused homolog (Drosophila) [Source:HGNC Symbol;Acc:16466]	10	104263744	104393292	1	q24.32	104263744	104393292	SUFU	SUFU-001	HGNC Symbol	HGNC transcript name	4	47.98	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	51684	16466	SUFU	NM_016169	27525

MSeqDR Master Exome Data Set M1: 120 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	10	104263898	C	T	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	-	-	5'_UTR	NA	-	-	lod=271:568	-	-	-	het	1
2	10	104263898	C	T	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	-	-	5'_UTR	NA	-	-	lod=271:568	-	-	-	het	1
3	10	104263898	C	T	ENST00000423559	ENSG00000107882	104263744	104393292	ENSP00000411597	SUFU	1	SUFU_HUMAN	-	-	5'_UTR	NA	-	-	lod=271:568	-	-	-	het	1
4	10	104264062	G	T	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	c.153G>T	p.P51P	syn	NA	-	-	lod=655:662	-	-	-	het	2
5	10	104264062	G	T	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	c.153G>T	p.P51P	syn	NA	-	-	lod=655:662	-	-	-	het	2
6	10	104264062	G	T	ENST00000423559	ENSG00000107882	104263744	104393292	ENSP00000411597	SUFU	1	SUFU_HUMAN	c.153G>T	p.P51P	syn	NA	-	-	lod=655:662	-	-	-	het	2
7	10	104264107	C	T	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	-	-	+16bp 5'_splice_site	rs2274351	0.5023	T=4816/C=3784;T=1421/C=2985;T=6237/C=6769	lod=655:662	-	-	-	het	482
8	10	104264107	C	T	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	-	-	+16bp 5'_splice_site	rs2274351	0.5023	T=4816/C=3784;T=1421/C=2985;T=6237/C=6769	lod=655:662	-	-	-	hom	273
9	10	104264107	C	T	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	-	-	+16bp 5'_splice_site	rs2274351	0.5023	T=4816/C=3784;T=1421/C=2985;T=6237/C=6769	lod=655:662	-	-	-	het	482
10	10	104264107	C	T	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	-	-	+16bp 5'_splice_site	rs2274351	0.5023	T=4816/C=3784;T=1421/C=2985;T=6237/C=6769	lod=655:662	-	-	-	hom	273
11	10	104264107	C	T	ENST00000423559	ENSG00000107882	104263744	104393292	ENSP00000411597	SUFU	1	SUFU_HUMAN	-	-	+16bp 5'_splice_site	rs2274351	0.5023	T=4816/C=3784;T=1421/C=2985;T=6237/C=6769	lod=655:662	-	-	-	het	482
12	10	104264107	C	T	ENST00000423559	ENSG00000107882	104263744	104393292	ENSP00000411597	SUFU	1	SUFU_HUMAN	-	-	+16bp 5'_splice_site	rs2274351	0.5023	T=4816/C=3784;T=1421/C=2985;T=6237/C=6769	lod=655:662	-	-	-	hom	273
13	10	104268941	C	T	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	c.198C>T	p.D66D	syn	rs189500468	0.0014	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=248:558	-	-	-	het	1
14	10	104268941	C	T	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	c.198C>T	p.D66D	syn	rs189500468	0.0014	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=248:558	-	-	-	het	1
15	10	104268941	C	T	ENST00000423559	ENSG00000107882	104263744	104393292	ENSP00000411597	SUFU	1	SUFU_HUMAN	c.198C>T	p.D66D	syn	rs189500468	0.0014	T=0/C=8600;T=1/C=4405;T=1/C=13005	lod=248:558	-	-	-	het	1
16	10	104269018	G	C	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	c.275G>C	p.S92T	non-syn	NA	-	-	lod=251:560	DAMAGING	P	-	het	2
17	10	104269018	G	C	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	c.275G>C	p.S92T	non-syn	NA	-	-	lod=251:560	DAMAGING	P	-	het	2
18	10	104269018	G	C	ENST00000423559	ENSG00000107882	104263744	104393292	ENSP00000411597	SUFU	1	SUFU_HUMAN	c.275G>C	p.S92T	non-syn	NA	-	-	lod=251:560	DAMAGING	P	-	het	2
19	10	104309738	C	G	ENST00000369899	ENSG00000107882	104263744	104393292	ENSP00000358915	SUFU	1	SUFU_HUMAN	c.329C>G	p.T110R	non-syn	NA	-	-	lod=535:641	TOLERATED	B	-	het	2
20	10	104309738	C	G	ENST00000369902	ENSG00000107882	104263744	104393292	ENSP00000358918	SUFU	1	SUFU_HUMAN	c.329C>G	p.T110R	non-syn	NA	-	-	lod=535:641	TOLERATED	B	-	het	2

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Transcripts and variants in the surrounding SUFU 10:104263744..104393292 region Gbrowse