POLGARF (POLG alternative reading frame)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 125316803
Gene name POLG alternative reading frame
Gene symbol POLGARF
Synonyms (NCBI Gene)
ORF-YPOLG
Chromosome 15
Chromosome location 15q26.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32958672
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IDA 32958672
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IDA 32958672
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620759 56246 ENSG00000291307
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A3B3IS91
Protein name POLG alternative reading frame (POLGARF) (ORF-Y) [Cleaved into: POLGARF C-terminal fragment (POLGARFin)]
Family and domains
Sequence 


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Sequence length
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Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (10)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISTIC DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPLETION OF MITOCHONDRIAL DEOXYRIBONUCLEIC ACID — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (399)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 12859329, 22577219 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Akinesia Akinesia BEFREE 28716221
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome CLINVAR_DG 11431686, 12210792, 12707443, 12825077, 12872260, 14635118, 14745080, 15122711, 15349879, 15351195, 15477547, 15917273, 16024923, 16177225, 16368709
View all (70 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome UNIPROT_DG 15122711, 15689359, 15929042, 16621917, 16639411, 18828154, 25129007
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome GENOMICS_ENGLAND_DG 15122711, 20142534, 25655951, 25929793, 27604308
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome BEFREE 15888483, 15921863, 16177225, 16181814, 16896309, 16957900, 17923349, 18195149, 18208989, 18294203, 18500570, 18502641, 18783964, 18991199, 19221117
View all (29 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome CTD_human_DG 17923349, 18716558, 20138553
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers Syndrome (disorder) Alpers Syndrome ORPHANET_DG 22000311, 22237560, 23545419
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpers-Huttenlocher syndrome Alpers-Huttenlocher Syndrome Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32573913 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only