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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 TULP1:

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
ENSG00000112041	TULP1	1	3	37	ENSG00000112041	ENST00000322263	ENSP00000319414	tubby like protein 1 [Source:HGNC Symbol;Acc:12423]	6	35465651	35480715	-1	p21.31	35465651	35480653	TULP1	TULP1-004	HGNC Symbol	HGNC transcript name	7	53.76	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	7287	12423	TULP1		27515

MSeqDR Master Exome Data Set M1: 119 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	35465714	C	-CCT	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
2	6	35465714	C	-CCT	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	1
3	6	35465786	A	C	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	rs1051952	0.8068	-	lod=59:405	-	-	-	het	328
4	6	35465786	A	C	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	rs1051952	0.8068	-	lod=59:405	-	-	-	hom	137
5	6	35465786	A	C	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	rs1051952	0.8068	-	lod=59:405	-	-	-	het	328
6	6	35465786	A	C	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	rs1051952	0.8068	-	lod=59:405	-	-	-	hom	137
7	6	35465830	A	-G	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	rs112061946	-	-	-	-	-	-	het	9
8	6	35465830	A	-G	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	rs112061946	-	-	-	-	-	-	het	9
9	6	35465969	C	T	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	6	35465969	C	T	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	6	35466164	G	A	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	c.1569C>T	p.C523C	syn	NA	-	-	lod=346:594	-	-	-	het	1
12	6	35466164	G	A	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	c.1410C>T	p.C470C	syn	NA	-	-	lod=346:594	-	-	-	het	1
13	6	35467767	C	T	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	c.1486G>A	p.A496T	non-syn	rs141980901	0.0031	T=4/C=8596;T=4/C=4402;T=8/C=12998	-	TOLERATED	B	HGMD	het	7
14	6	35467767	C	T	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	c.1327G>A	p.A443T	non-syn	rs141980901	0.0031	T=4/C=8596;T=4/C=4402;T=8/C=12998	-	TOLERATED	B	HGMD	het	7
15	6	35467891	C	T	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	c.1362G>A	p.T454T	syn	rs41270076	0.0323	T=222/C=8378;T=297/C=4109;T=519/C=12487	lod=205:538	-	-	-	het	62
16	6	35467891	C	T	ENST00000229771	ENSG00000112041	35465651	35480715	ENSP00000229771	TULP1	-1	TULP1_HUMAN	c.1362G>A	p.T454T	syn	rs41270076	0.0323	T=222/C=8378;T=297/C=4109;T=519/C=12487	lod=205:538	-	-	-	hom	1
17	6	35467891	C	T	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	c.1203G>A	p.T401T	syn	rs41270076	0.0323	T=222/C=8378;T=297/C=4109;T=519/C=12487	lod=205:538	-	-	-	het	62
18	6	35467891	C	T	ENST00000322263	ENSG00000112041	35465651	35480715	ENSP00000319414	TULP1	-1	TULP1_HUMAN	c.1203G>A	p.T401T	syn	rs41270076	0.0323	T=222/C=8378;T=297/C=4109;T=519/C=12487	lod=205:538	-	-	-	hom	1
19	6	35467891	C	T	ENST00000495781	ENSG00000112041	35465651	35480715	-	TULP1	-1	-	c.538G>A	p.A180T	non-syn	rs41270076	0.0323	T=222/C=8378;T=297/C=4109;T=519/C=12487	lod=205:538	-	-	-	het	62
20	6	35467891	C	T	ENST00000495781	ENSG00000112041	35465651	35480715	-	TULP1	-1	-	c.538G>A	p.A180T	non-syn	rs41270076	0.0323	T=222/C=8378;T=297/C=4109;T=519/C=12487	lod=205:538	-	-	-	hom	1

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Transcripts and variants in the surrounding TULP1 6:35465651..35480715 region Gbrowse