Description

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:HGNC:8142]

Synonyms

FLJ22187, MGA3

Location
INSDC coordinates

chromosome:GRCh38:CM000681.2:45527427:45602212:1

About this gene

This gene has 3 transcripts (splice variants), 49 orthologues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OPA3-002ENST000002632757828179aaENSP00000263275
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS12668Q9H6K4 NM_025136
NP_079412
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P3

PRINCIPAL3 - APPRIS candidate principal isoform (earliest CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

OPA3-001ENST000003230602250180aaENSP00000319817
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33052Q9H6K4 NM_001017989
NP_001017989
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT2

ALTERNATIVE2 - APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

OPA3-003ENST000005443711146126aaENSP00000442839
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-B4DK77 -TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).

Gene-based displays