CFAP99 (cilia and flagella associated protein 99)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 402160
Gene name Cilia and flagella associated protein 99
Gene symbol CFAP99
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4p16.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
GO ID Ontology Definition Evidence Reference
GO:0005929 Component Cilium IEA
GO:0031514 Component Motile cilium IEA
GO:0042995 Component Cell projection 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.
D6REC4
Protein name Cilia- and flagella-associated protein 99
Family and domains
Sequence 
MPRSCRERVQGSKQQLRLQFPPRIRKTPKLTFYRPDNILVKLNTTAILREGALYQRQVEQ
ELQRVDKLVDGAGDFSEFFEWQKKMQAKDREEQLAASECRRLQGKLSHEEAVLARQSLMQ
ENKQRVEQQKEQMAKLMLQRAERRLREDRSRKELVEQVIEGQKNAKAAQTKLAKGRQQTV
QEAIEESRGLLQRRAQAAQEEQRRRCELISQLRALETQPTRKGKLVDLTQIPGYGLEGEM
SIVELRERLALLKENQRRKEEEKRDQIIQGKHTKSQELQNMVEQISLCRAAMGRSAALRW
EEKKALAAAPAAPSQDERVQQLRRRISERAAERSRQAALLHVSAPRTARPKPRVSPDWWE
EPGRLKAGAGWGWRARRAGTGVPGRGWRGDRVRSAAGRYAAAGAGGGGGVPARADAFPGL
QAQLEAQHWLELERSRERRLQALQQGGSGPGPARRLEAA
Sequence length 459
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 (1)
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
TOURETTE SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukemia Myeloid Acute Myeloid leukemia Pubtator 30289875 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only