Gene Gene information from NCBI Gene database.
Entrez ID 133491
Gene name Chromosome 5 open reading frame 47
Gene symbol C5orf47
Synonyms (NCBI Gene)
-
Chromosome 5
Chromosome location 5q35.2
miRNA miRNA information provided by mirtarbase database.
24
miRTarBase ID miRNA Experiments Reference
MIRT849788 hsa-miR-3163 CLIP-seq
MIRT849789 hsa-miR-340 CLIP-seq
MIRT849790 hsa-miR-4282 CLIP-seq
MIRT849791 hsa-miR-450b-5p CLIP-seq
MIRT849792 hsa-miR-4760-3p CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620002 27026 ENSG00000185056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q569G3
Protein name Uncharacterized protein C5orf47
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15730 DUF4680 27 176 Domain of unknown function (DUF4680) Family
Sequence
Sequence length 176
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations