UMAD1 (UBAP1-MVB12-associated (UMA) domain containing 1)

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Gene Gene information from NCBI Gene database.
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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
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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
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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.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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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
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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.
Show/Hide Unknown Diseases (11)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35379992, 36738287, 37198259, 37985413, 40883957
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY ATRESIA — GWAS catalog 37572794
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE — GWAS catalog 32737115
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA — GWAS catalog 34290314
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER — GWAS catalog 27067015
★★★★★
★★☆☆☆
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
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NIPAL2 2 shared diseasesStevens-johnson syndrome, Toxic epidermal necrolysis 2 shared evidence sourcesGWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 2 shared diseases including Stevens-johnson syndrome, Toxic epidermal necrolysis — evidence mostly GWAS catalog. SELENOK 2 shared diseasesStevens-johnson syndrome, Toxic epidermal necrolysis 2 shared evidence sourcesGWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 2 shared diseases including Stevens-johnson syndrome, Toxic epidermal necrolysis — evidence mostly GWAS catalog. ZC3H12D 2 shared diseasesStevens-johnson syndrome, Toxic epidermal necrolysis 2 shared evidence sourcesGWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 2 shared diseases including Stevens-johnson syndrome, Toxic epidermal necrolysis — evidence mostly GWAS catalog. DDX39B 2 shared diseasesStevens-johnson syndrome, Toxic epidermal necrolysis 2 shared evidence sourcesGWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 2 shared diseases including Stevens-johnson syndrome, Toxic epidermal necrolysis — evidence mostly GWAS catalog. BAG6 3 shared diseasesSmall cell lung carcinoma, Stevens-johnson syndrome, Toxic epidermal necrolysis 3 shared evidence sourcesGWAS catalog (Small cell lung carcinoma), GWAS catalog (Stevens-johnson syndrome), GWAS catalog (Toxic epidermal necrolysis) Related via 3 shared diseases including Small cell lung carcinoma, Stevens-johnson syndrome — evidence mostly GWAS catalog.
Coronary artery disease Linked via 2 of 5 related genesZC3H12D, BAG6 Urolithiasis Linked via 1 of 5 related genesNIPAL2 Dry eye syndrome Linked via 1 of 5 related genesSELENOK Asthma Linked via 1 of 5 related genesZC3H12D Hepatocellular carcinoma Linked via 1 of 5 related genesZC3H12D