Description

optic atrophy 1 (autosomal dominant) [Source:HGNC Symbol;Acc:8140]

Gene Synonyms

FLJ12460, KIAA0567, MGM1, NPG, NTG, largeG

Location

Chromosome 3: 193,310,933-193,415,612 forward strand.

GRCh37:CM000665.1

About this gene

This gene has 19 transcripts (splice variants), 152 orthologues, 6 paralogues, is a member of 1 Ensembl protein family and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeq MatchFlags
OPA1-001ENST00000361908.36439997aaENSP00000354681
 
Protein coding
CCDS33917C9JY58 E5KLJ7 O60313
Q6PEK6
-GENCODE basic
OPA1-002ENST00000392438.36340960aaENSP00000376233
 
Protein coding
CCDS43186C9JY58 O60313 Q6PEK6
-GENCODE basic
OPA1-202ENST00000361510.264921015aaENSP00000355324
 
Protein coding
-C9JMB8 E5KLJ5 Q6PEK6
-GENCODE basic
OPA1-203ENST00000361715.26384979aaENSP00000355311
 
Protein coding
-E5KLJ9 Q6PEK6 -GENCODE basic
OPA1-204ENST00000361828.26381978aaENSP00000354429
 
Protein coding
-E5KLJ6 Q6PEK6 -GENCODE basic
OPA1-201ENST00000361150.26330961aaENSP00000354781
 
Protein coding
-A8MXB6 E5KLK1 Q6PEK6
-GENCODE basic
OPA1-009ENST00000445863.11096183aaENSP00000398358
 
Protein coding
-H7C141 -CDS 5' incomplete
OPA1-011ENST00000419435.178084aaENSP00000399877
 
Protein coding
-C9JY58 -CDS 3' incomplete
OPA1-005ENST00000392436.2757243aaENSP00000376231
 
Protein coding
-C9JMB8 -CDS 3' incomplete
OPA1-004ENST00000392437.1631166aaENSP00000376232
 
Protein coding
-A8MXB6 -CDS 3' incomplete
OPA1-006ENST00000434811.1554185aaENSP00000409084
 
Protein coding
---CDS 5' and 3' incomplete
OPA1-010ENST00000429164.1393131aaENSP00000411699
 
Protein coding
---CDS 5' and 3' incomplete
OPA1-012ENST00000487986.1563No protein-
 
Processed transcript
----
OPA1-003ENST00000495261.13660No protein-
 
Retained intron
----
OPA1-015ENST00000475899.1685No protein-
 
Retained intron
----
OPA1-008ENST00000483516.1594No protein-
 
Retained intron
----
OPA1-014ENST00000482865.1567No protein-
 
Retained intron
----
OPA1-013ENST00000497189.1562No protein-
 
Retained intron
----
OPA1-007ENST00000495476.1488No protein-
 
Retained intron
----

Gene-based displays