Gene Gene information from NCBI Gene database.
Entrez ID 375057
Gene name Stum, mechanosensory transduction mediator homolog
Gene symbol STUM
Synonyms (NCBI Gene)
C1orf95
Chromosome 1
Chromosome location 1q42.12
miRNA miRNA information provided by mirtarbase database.
25
miRTarBase ID miRNA Experiments Reference
MIRT722580 hsa-miR-4695-5p HITS-CLIP 19536157
MIRT722579 hsa-miR-4459 HITS-CLIP 19536157
MIRT722578 hsa-miR-140-3p HITS-CLIP 19536157
MIRT722577 hsa-miR-326 HITS-CLIP 19536157
MIRT722576 hsa-miR-330-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
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.
Q69YW2
Protein name Protein stum homolog
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15795 Spec3 44 127 Ectodermal ciliogenesis protein Family
Sequence
MEPSHKDAETAAAAAAVAAADPRGASSSSGVVVQVREKKGPLRAAIPYMPFPVAVICLFL
NTFVPGLGTFVSAFTVLCGARTDLPDRHVCCVFWLNIAAALIQILTAIVMVGWIMSIFWG
MDMVILA
ISQGYKEQGIPQQL
Sequence length 141
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
COLONIC NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations