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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 USH1C:

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
ENSG00000006611	USH1C	1	50	118	ENSG00000006611	ENST00000526313	ENSP00000432236	Usher syndrome 1C (autosomal recessive, severe) [Source:HGNC Symbol;Acc:12597]	11	17515442	17565963	-1	p15.1	17515442	17565949	USH1C	USH1C-002	HGNC Symbol	HGNC transcript name	10	51.78	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	10083	12597	USH1C		27504

MSeqDR Master Exome Data Set M1: 478 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	11	17515459	C	+TGTT	ENST00000318024	ENSG00000006611	17515442	17565963	ENSP00000317018	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	hom	489
2	11	17515459	C	+TGTT	ENST00000318024	ENSG00000006611	17515442	17565963	ENSP00000317018	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	het	167
3	11	17515459	C	+TGTT	ENST00000524811	ENSG00000006611	17515442	17565963	-	USH1C	-1	-	c.1181_1182insAACA	p.*394NA	non-syn	rs10649542	-	-	-	-	-	-	hom	489
4	11	17515459	C	+TGTT	ENST00000524811	ENSG00000006611	17515442	17565963	-	USH1C	-1	-	c.1181_1182insAACA	p.*394NA	non-syn	rs10649542	-	-	-	-	-	-	het	167
5	11	17515459	C	+TGTT	ENST00000526313	ENSG00000006611	17515442	17565963	ENSP00000432236	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	hom	489
6	11	17515459	C	+TGTT	ENST00000526313	ENSG00000006611	17515442	17565963	ENSP00000432236	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	het	167
7	11	17515459	C	+TGTT	ENST00000527020	ENSG00000006611	17515442	17565963	ENSP00000436934	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	hom	489
8	11	17515459	C	+TGTT	ENST00000527020	ENSG00000006611	17515442	17565963	ENSP00000436934	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	het	167
9	11	17515459	C	+TGTT	ENST00000527720	ENSG00000006611	17515442	17565963	ENSP00000432944	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	hom	489
10	11	17515459	C	+TGTT	ENST00000527720	ENSG00000006611	17515442	17565963	ENSP00000432944	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs10649542	-	-	-	-	-	-	het	167
11	11	17515459	C	+TGTTG	ENST00000318024	ENSG00000006611	17515442	17565963	ENSP00000317018	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	11	17515459	C	+TGTTG	ENST00000524811	ENSG00000006611	17515442	17565963	-	USH1C	-1	-	c.1181_1182insCAACA	p.*394NA	non-syn	NA	-	-	-	-	-	-	het	1
13	11	17515459	C	+TGTTG	ENST00000526313	ENSG00000006611	17515442	17565963	ENSP00000432236	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	11	17515459	C	+TGTTG	ENST00000527020	ENSG00000006611	17515442	17565963	ENSP00000436934	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	11	17515459	C	+TGTTG	ENST00000527720	ENSG00000006611	17515442	17565963	ENSP00000432944	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	11	17515668	T	C	ENST00000318024	ENSG00000006611	17515442	17565963	ENSP00000317018	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs1055581	0.40135	-	-	-	-	-	het	343
17	11	17515668	T	C	ENST00000318024	ENSG00000006611	17515442	17565963	ENSP00000317018	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs1055581	0.40135	-	-	-	-	-	hom	125
18	11	17515668	T	C	ENST00000524811	ENSG00000006611	17515442	17565963	-	USH1C	-1	-	c.973A>G	p.I325V	non-syn	rs1055581	0.40135	-	-	-	-	-	het	343
19	11	17515668	T	C	ENST00000524811	ENSG00000006611	17515442	17565963	-	USH1C	-1	-	c.973A>G	p.I325V	non-syn	rs1055581	0.40135	-	-	-	-	-	hom	125
20	11	17515668	T	C	ENST00000526313	ENSG00000006611	17515442	17565963	ENSP00000432236	USH1C	-1	USH1C_HUMAN	-	-	3'_UTR	rs1055581	0.40135	-	-	-	-	-	het	343

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding USH1C 11:17515442..17565963 region Gbrowse