Gene Gene information from NCBI Gene database.
Entrez ID 729852
Gene name UBAP1-MVB12-associated (UMA) domain containing 1
Gene symbol UMAD1
Synonyms (NCBI Gene)
RPA3-AS1RPA3OS
Chromosome 7
Chromosome location 7p21.3
miRNA miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT737267 hsa-miR-873-3p Luciferase reporter assayWestern blottingImmunofluorescenceqRT-PCR 33042427
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
C9J7I0
Protein name UBAP1-MVB12-associated (UMA)-domain containing protein 1 (RPA3 antisense RNA 1) (RPA3 opposite strand)
Family and domains
Sequence
MFHFFRKPPESKKPSVPETEADGFVLLGDTTDEQRMTARGKTSDIEANQPLETNKENSSS
VTVSDPEMENKAGQTLENSSLMAELLSDVPFTLAPHVLAVQGTITDLPDHLLSYDGSENL
SRFWYDFTLENSVLCDS
Sequence length 137
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Liver Cirrhosis Biliary Liver cirrhosis Pubtator 29773854 Associate
★☆☆☆☆
Found in Text Mining only
Stevens-Johnson Syndrome Stevens-Johnson Syndrome GWASCAT_DG 21221126
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Toxic Epidermal Necrolysis Stevens-Johnson Syndrome GWASCAT_DG 21221126
★★☆☆☆
Found in Text Mining + Unknown/Other Associations