Description

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

Synonyms

FLJ12460, KIAA0567, MGM1, NPG, NTG

INSDC coordinates

chromosome:GRCh38:CM000665.2:193593144:193697823:1

About this gene

This gene has 19 transcripts (splice variants), 72 orthologues, is a member of 3 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OPA1-001ENST000003619086439997aaENSP00000354681
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS33917E5KLJ7 O60313 NM_130836
NP_570849
TSL:1

TSL1: All splice junctions of the transcript 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 PI3APPRIS candidate principal isoform (earliest CCDS)
Glossary entry for APPRIS
APPRIS website
OPA1-002ENST000003924386340960aaENSP00000376233
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS43186O60313 NM_015560
NP_056375
TSL:1

TSL1: All splice junctions of the transcript 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 ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
OPA1-202ENST0000036151064921015aaENSP00000355324
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5KLJ5 NM_130837
NP_570850
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

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 ALT2APPRIS candidate principal isoform that appears to be conserved in fewer than three tested non-primate species
Glossary entry for APPRIS
APPRIS website
OPA1-203ENST000003617156384979aaENSP00000355311
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5KLJ9 NM_130835
NP_570848
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

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).
OPA1-204ENST000003618286381978aaENSP00000354429
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5KLJ6 NM_130832
NM_130834
NP_570845
NP_570847
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

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 ALT1APPRIS candidate principal isoform that is conserved in at least three tested non-primate species
Glossary entry for APPRIS
APPRIS website
OPA1-201ENST000003611506330961aaENSP00000354781
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E5KLK1 NM_130831
NM_130833
NP_570844
NP_570846
TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

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).
OPA1-009ENST000004458631096183aaENSP00000398358
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C141 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-011ENST0000041943578084aaENSP00000399877
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JY58 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-005ENST00000392436757243aaENSP00000376231
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JMB8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-004ENST00000392437631166aaENSP00000376232
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A8MXB6 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-006ENST00000434811554185aaENSP00000409084
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C321 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is 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.

OPA1-010ENST00000429164393131aaENSP00000411699
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C3G2 -CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-012ENST00000487986563No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:4

TSL4:The best supporting EST for this transcript is 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.

OPA1-003ENST000004952613660No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:1

TSL1: All splice junctions of the transcript 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.

OPA1-015ENST00000475899685No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-008ENST00000483516594No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

OPA1-014ENST00000482865567No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:4

TSL4:The best supporting EST for this transcript is 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.

OPA1-013ENST00000497189562No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:4

TSL4:The best supporting EST for this transcript is 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.

OPA1-007ENST00000495476488No protein-
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript is from a single EST.

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.

Gene-based displays