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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 SETX:

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
ENSG00000107290	SETX	0	0	46	ENSG00000107290	ENST00000477049		senataxin [Source:HGNC Symbol;Acc:445]	9	135136743	135230372	-1	q34.13	135136743	135150769	SETX	SETX-004	HGNC Symbol	HGNC transcript name	7	41	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	23064	445	SETX		27518

MSeqDR Master Exome Data Set M1: 592 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	135136911	T	C	ENST00000224140	ENSG00000107290	135136743	135230372	ENSP00000224140	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	9	135136911	T	C	ENST00000372169	ENSG00000107290	135136743	135230372	ENSP00000361242	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	9	135136911	T	C	ENST00000393220	ENSG00000107290	135136743	135230372	ENSP00000376913	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
4	9	135136911	T	C	ENST00000436441	ENSG00000107290	135136743	135230372	ENSP00000409143	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
5	9	135136911	T	C	ENST00000477049	ENSG00000107290	135136743	135230372	-	SETX	-1	-	c.3899A>G	p.N1300S	non-syn	NA	-	-	-	-	-	-	het	1
6	9	135137030	T	C	ENST00000224140	ENSG00000107290	135136743	135230372	ENSP00000224140	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	2
7	9	135137030	T	C	ENST00000372169	ENSG00000107290	135136743	135230372	ENSP00000361242	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	2
8	9	135137030	T	C	ENST00000393220	ENSG00000107290	135136743	135230372	ENSP00000376913	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	2
9	9	135137030	T	C	ENST00000436441	ENSG00000107290	135136743	135230372	ENSP00000409143	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	2
10	9	135137030	T	C	ENST00000477049	ENSG00000107290	135136743	135230372	-	SETX	-1	-	c.3780A>G	p.L1260L	syn	NA	-	-	lod=89:449	-	-	-	het	2
11	9	135137047	C	T	ENST00000224140	ENSG00000107290	135136743	135230372	ENSP00000224140	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	1
12	9	135137047	C	T	ENST00000372169	ENSG00000107290	135136743	135230372	ENSP00000361242	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	1
13	9	135137047	C	T	ENST00000393220	ENSG00000107290	135136743	135230372	ENSP00000376913	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	1
14	9	135137047	C	T	ENST00000436441	ENSG00000107290	135136743	135230372	ENSP00000409143	SETX	-1	SETX_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	1
15	9	135137047	C	T	ENST00000477049	ENSG00000107290	135136743	135230372	-	SETX	-1	-	c.3763G>A	p.V1255I	non-syn	NA	-	-	lod=89:449	-	-	-	het	1
16	9	135137364	T	C	ENST00000224140	ENSG00000107290	135136743	135230372	ENSP00000224140	SETX	-1	SETX_HUMAN	-	-	3'_UTR	rs997784	0.1268	-	-	-	-	-	het	134
17	9	135137364	T	C	ENST00000224140	ENSG00000107290	135136743	135230372	ENSP00000224140	SETX	-1	SETX_HUMAN	-	-	3'_UTR	rs997784	0.1268	-	-	-	-	-	hom	4
18	9	135137364	T	C	ENST00000372169	ENSG00000107290	135136743	135230372	ENSP00000361242	SETX	-1	SETX_HUMAN	-	-	3'_UTR	rs997784	0.1268	-	-	-	-	-	het	134
19	9	135137364	T	C	ENST00000372169	ENSG00000107290	135136743	135230372	ENSP00000361242	SETX	-1	SETX_HUMAN	-	-	3'_UTR	rs997784	0.1268	-	-	-	-	-	hom	4
20	9	135137364	T	C	ENST00000393220	ENSG00000107290	135136743	135230372	ENSP00000376913	SETX	-1	SETX_HUMAN	-	-	3'_UTR	rs997784	0.1268	-	-	-	-	-	het	134

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding SETX 9:135136743..135230372 region Gbrowse