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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 ABHD12:

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
ENSG00000100997	ABHD12	0	0	16	ENSG00000100997	ENST00000465694	ENSP00000459278	abhydrolase domain containing 12 [Source:HGNC Symbol;Acc:15868]	20	25275379	25371619	-1	p11.21	25275379	25281520	ABHD12	ABHD12-003	HGNC Symbol	HGNC transcript name	9	47.42	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	26090	15868	ABHD12		27522

MSeqDR Master Exome Data Set M1: 150 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	20	25275443	G	C	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	rs147345287	0.00911	-	-	-	-	-	het	4
2	20	25275443	G	C	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	rs147345287	0.00911	-	-	-	-	-	het	4
3	20	25275467	G	T	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	20	25275467	G	T	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	20	25275510	A	-G	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	rs57215790	-	-	-	-	-	-	het	3
6	20	25275510	A	-G	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	rs57215790	-	-	-	-	-	-	het	3
7	20	25275553	G	-TTA	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	20	25275553	G	-TTA	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	20	25275553	G	-TTAGTT	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	rs145467544	-	-	-	-	-	-	het	562
10	20	25275553	G	-TTAGTT	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	rs145467544	-	-	-	-	-	-	hom	93
11	20	25275553	G	-TTAGTT	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	rs145467544	-	-	-	-	-	-	het	562
12	20	25275553	G	-TTAGTT	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	rs145467544	-	-	-	-	-	-	hom	93
13	20	25275555	T	-A	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	rs72013275	-	-	-	-	-	-	hom	1
14	20	25275555	T	-A	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	rs72013275	-	-	-	-	-	-	hom	1
15	20	25275557	G	-TTTTA	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
16	20	25275557	G	-TTTTA	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
17	20	25275561	T	-A	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
18	20	25275561	T	-A	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
19	20	25275581	C	T	ENST00000376542	ENSG00000100997	25275379	25371619	ENSP00000365725	ABHD12	-1	ABD12_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	20	25275581	C	T	ENST00000465694	ENSG00000100997	25275379	25371619	ENSP00000459278	ABHD12	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

** 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 ABHD12 20:25275379..25371619 region Gbrowse