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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 AHI1:

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
ENSG00000135541	AHI1	0	0	76	ENSG00000135541	ENST00000531788	ENSP00000432167	Abelson helper integration site 1 [Source:HGNC Symbol;Acc:21575]	6	135604670	135818914	-1	q23.3	135639572	135818878	AHI1	AHI1-010	HGNC Symbol	HGNC transcript name	19	36.31	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	54806	21575	AHI1		27515

MSeqDR Master Exome Data Set M1: 525 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	135606385	C	+CA	ENST00000367800	ENSG00000135541	135604670	135818914	ENSP00000356774	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	hom	5
2	6	135606385	C	+CA	ENST00000367800	ENSG00000135541	135604670	135818914	ENSP00000356774	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	het	43
3	6	135606385	C	+CA	ENST00000417892	ENSG00000135541	135604670	135818914	ENSP00000416867	AHI1	-1	-	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	hom	5
4	6	135606385	C	+CA	ENST00000417892	ENSG00000135541	135604670	135818914	ENSP00000416867	AHI1	-1	-	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	het	43
5	6	135606385	C	+CA	ENST00000457866	ENSG00000135541	135604670	135818914	ENSP00000388650	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	hom	5
6	6	135606385	C	+CA	ENST00000457866	ENSG00000135541	135604670	135818914	ENSP00000388650	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	het	43
7	6	135606385	C	+CA	ENST00000475846	ENSG00000135541	135604670	135818914	ENSP00000435710	AHI1	-1	-	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	hom	5
8	6	135606385	C	+CA	ENST00000475846	ENSG00000135541	135604670	135818914	ENSP00000435710	AHI1	-1	-	-	-	3'_UTR	rs140202435	-	-	-	-	-	-	het	43
9	6	135606385	C	+CA	ENST00000498558	ENSG00000135541	135604670	135818914	-	AHI1	-1	-	c.837_838insTG	p.V280NA	non-syn	rs140202435	-	-	-	-	-	-	hom	5
10	6	135606385	C	+CA	ENST00000498558	ENSG00000135541	135604670	135818914	-	AHI1	-1	-	c.837_838insTG	p.V280NA	non-syn	rs140202435	-	-	-	-	-	-	het	43
11	6	135606565	G	A	ENST00000265602	ENSG00000135541	135604670	135818914	ENSP00000265602	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	het	151
12	6	135606565	G	A	ENST00000265602	ENSG00000135541	135604670	135818914	ENSP00000265602	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	hom	20
13	6	135606565	G	A	ENST00000367799	ENSG00000135541	135604670	135818914	ENSP00000356773	AHI1	-1	-	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	het	151
14	6	135606565	G	A	ENST00000367799	ENSG00000135541	135604670	135818914	ENSP00000356773	AHI1	-1	-	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	hom	20
15	6	135606565	G	A	ENST00000367800	ENSG00000135541	135604670	135818914	ENSP00000356774	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	het	151
16	6	135606565	G	A	ENST00000367800	ENSG00000135541	135604670	135818914	ENSP00000356774	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	hom	20
17	6	135606565	G	A	ENST00000417892	ENSG00000135541	135604670	135818914	ENSP00000416867	AHI1	-1	-	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	het	151
18	6	135606565	G	A	ENST00000417892	ENSG00000135541	135604670	135818914	ENSP00000416867	AHI1	-1	-	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	hom	20
19	6	135606565	G	A	ENST00000457866	ENSG00000135541	135604670	135818914	ENSP00000388650	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	het	151
20	6	135606565	G	A	ENST00000457866	ENSG00000135541	135604670	135818914	ENSP00000388650	AHI1	-1	AHI1_HUMAN	-	-	3'_UTR	rs1052502	0.57	-	-	-	-	-	hom	20

** 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 AHI1 6:135604670..135818914 region Gbrowse