CFAP99 (cilia and flagella associated protein 99)

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Gene Gene information from NCBI Gene database.
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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
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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.
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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.
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
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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.
Phenotype Name Clinical Significance Source Reference Evidence Score
TOURETTE SYNDROME — GWAS catalog 30818990
★★★★★
★★☆☆☆
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
Leukemia Myeloid Acute Myeloid leukemia Pubtator 30289875 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for CFAP99.

No additional diseases found yet through genes similar to CFAP99.