CFAP96 (cilia and flagella associated protein 96)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 441054
Gene name Cilia and flagella associated protein 96
Gene symbol CFAP96
Synonyms (NCBI Gene)
C4orf47
Chromosome 4
Chromosome location 4q35.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 25074808
GO:0005813 Component Centrosome IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A7E2U8
Protein name Cilia-and flagella-associated protein 96
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15239 DUF4586 8 → 293 Domain of unknown function (DUF4586) Family
Tissue specificity TISSUE SPECIFICITY: Detected in testis and fetal liver. {ECO:0000269|PubMed:15809229}.
Sequence
Sequence length 309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (6)
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
CONGENITAL NEUROLOGIC ANOMALIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations