Description

optineurin [Source:HGNC Symbol;Acc:HGNC:17142]

Synonyms

FIP-2, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP

Location
INSDC coordinates

chromosome:GRCh38:CM000672.2:13099449:13138308:1

About this gene

This gene has 12 transcripts (splice variants), 64 orthologues, 1 paralogue, is a member of 4 Ensembl protein families and is associated with 4 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
OPTN-005ENST000003787483521577aaENSP00000368022
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7094Q96CV9 NM_001008211
NM_001008213
NP_001008212
NP_001008214
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 PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
OPTN-008ENST000003787473400577aaENSP00000368021
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7094Q96CV9 NM_001008212
NP_001008213
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 PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
OPTN-007ENST000003787573321577aaENSP00000368032
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7094Q96CV9 NM_021980
NP_068815
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 PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
OPTN-006ENST000002630362464577aaENSP00000263036
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS7094Q96CV9 -TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

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 PI2APPRIS candidate principal isoform (CCDS)
Glossary entry for APPRIS
APPRIS website
OPTN-004ENST000003787523488571aaENSP00000368027
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q96CV9 -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
OPTN-009ENST000003787642498571aaENSP00000368040
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-Q96CV9 -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
OPTN-001ENST00000424614664126aaENSP00000400356
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C1H4 -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.

OPTN-012ENST00000486862423107aaENSP00000481473
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-A0A087WY28 -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.

OPTN-011ENST0000043008184862aaENSP00000414747
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-X6RKL2 -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.

OPTN-002ENST0000048214066758aaENSP00000484961
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A087X2G2 -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.

OPTN-003ENST00000469025642No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---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.

OPTN-010ENST00000487935511No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---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