OPA1 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

OPA1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

OPA1

Gene name

optic atrophy 1 (autosomal dominant)

Chromosome

Chromosomal band

q28-q29

Imprinted

Unknown

Genomic reference

NC_000003.11

Transcript reference

NM_015560.2, NM_130831.2, NM_130832.2, NM_130833.2, NM_130834.2, NM_130835.2, NM_130836.2, NM_130837.2

Associated with diseases

616896, DOA+, OPA1

Citation reference(s)

Curators (0)

Total number of public variants reported

Unique public DNA variants reported

Individuals with public variants

Hidden variants

Download all this gene's data

Download all data

Notes

MSeqDR-LSDB

Date created

November 07, 2013

Graphical displays and utilities

Graphs

UCSC Genome Browser

Show variants in the UCSC Genome Browser (full view, compact view)

Ensembl Genome Browser

Show variants in the Ensembl Genome Browser (full view, compact view)

NCBI Sequence Viewer

Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources

HGNC

Entrez Gene

PubMed articles

OMIM - Gene

OMIM - Diseases

616896 (?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3))
DOA+ (Optic atrophy plus syndrome, 125250, DOA+)
OPA1 (OPTIC ATROPHY 1)

HGMD

OPA1

GeneCards

OPA1

GeneTests

OPA1

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000229	3	transcript variant 8	NM_130837.2	NP_570850.2	77
00000230	3	transcript variant 5	NM_130834.2	NP_570847.2	75
00000231	3	transcript variant 7	NM_130836.2	NP_570849.2	75
00000232	3	transcript variant 1	NM_015560.2	NP_056375.2	75
00000233	3	transcript variant 6	NM_130835.2	NP_570848.1	75
00000234	3	transcript variant 3	NM_130832.2	NP_570845.1	75
00000235	3	transcript variant 4	NM_130833.2	NP_570846.1	75
00000236	3	transcript variant 2	NM_130831.2	NP_570844.1	75

Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium