Gene Gene information from NCBI Gene database.
Entrez ID 84950
Gene name Pre-mRNA processing factor 38A
Gene symbol PRPF38A
Synonyms (NCBI Gene)
PRP38APrp38
Chromosome 1
Chromosome location 1p32.3
miRNA miRNA information provided by mirtarbase database.
411
miRTarBase ID miRNA Experiments Reference
MIRT004858 hsa-miR-192-5p Luciferase reporter assayqRT-PCR 19074876
MIRT024818 hsa-miR-215-5p Microarray 19074876
MIRT004858 hsa-miR-192-5p Reporter assay;Microarray;Other 19074876
MIRT715048 hsa-miR-216a-5p HITS-CLIP 19536157
MIRT715047 hsa-miR-216b-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IDA 28781166
GO:0000398 Process MRNA splicing, via spliceosome IMP 26673105
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 22365833, 23455924, 23602568, 25416956, 28514442, 31515488, 32296183, 32707033, 33961781
GO:0005634 Component Nucleus IDA 28781166
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617031 25930 ENSG00000134748
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NAV1
Protein name Pre-mRNA-splicing factor 38A
Protein function Involved in pre-mRNA splicing as a component of the spliceosome.
PDB 4RZ9 , 4RZA , 5F5S , 5O9Z , 6AHD , 7AAV , 7ABF , 7ABG , 7ABI , 8H6K , 8Q7N , 8QO9 , 8QPE , 8QZS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03371 PRP38 10 175 PRP38 family Family
PF12871 PRP38_assoc 179 276 Pre-mRNA-splicing factor 38-associated hydrophilic C-term Domain
Sequence
Sequence length 312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Bone Diseases Associate 33397451
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 28878028
★☆☆☆☆
Found in Text Mining only
Fractures Bone Associate 33397451
★☆☆☆☆
Found in Text Mining only
Triple Negative Breast Neoplasms Associate 28878028
★☆☆☆☆
Found in Text Mining only