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) and is associated with 7 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000361908.3 | OPA1-001 | 6439 | 997aa | ENSP00000354681.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS33917 | C9JY58 E5KLJ7 O60313 Q6PEK6 | NM_130836.2 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000361510.2 | OPA1-202 | 6492 | 1015aa | ENSP00000355324.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMB8 E5KLJ5 Q6PEK6 | NM_130837.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000361715.2 | OPA1-203 | 6384 | 979aa | ENSP00000355311.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5KLJ9 Q6PEK6 | NM_130835.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000361828.2 | OPA1-204 | 6381 | 978aa | ENSP00000354429.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5KLJ6 Q6PEK6 | NM_130834.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000392438.3 | OPA1-002 | 6340 | 960aa | ENSP00000376233.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43186 | C9JY58 O60313 Q6PEK6 | NM_015560.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000361150.2 | OPA1-201 | 6330 | 961aa | ENSP00000354781.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MXB6 E5KLK1 Q6PEK6 | NM_130833.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000445863.1 | OPA1-009 | 1096 | 183aa | ENSP00000398358.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C141 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000419435.1 | OPA1-011 | 780 | 84aa | ENSP00000399877.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JY58 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000392436.2 | OPA1-005 | 757 | 243aa | ENSP00000376231.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JMB8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000392437.1 | OPA1-004 | 631 | 166aa | ENSP00000376232.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MXB6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000434811.1 | OPA1-006 | 554 | 185aa | ENSP00000409084.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000429164.1 | OPA1-010 | 393 | 131aa | ENSP00000411699.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000487986.1 | OPA1-012 | 563 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000495261.1 | OPA1-003 | 3660 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000475899.1 | OPA1-015 | 685 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000483516.1 | OPA1-008 | 594 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000482865.1 | OPA1-014 | 567 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000497189.1 | OPA1-013 | 562 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000495476.1 | OPA1-007 | 488 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
