CFAP96 (cilia and flagella associated protein 96)

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Gene Gene information from NCBI Gene database.
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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 Show/Hide all (8)
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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.
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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.
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 
MPAEGGKTDMERIGLFSEMEYITVGDKYVSQFNRPFNEAASKNKQMLPGGSKEMSDLQAG
YFDPHFVRIFEGEGYINLNQVRRRDMVEAAKKNLGKAFLPSNGEKKPCGLGSYYGTIGGP
VPFFSAQSKPREKYKAPGKNLYTNPGKKGTGYGYANITIGKQFSHSADFYDAAKLKYKKA
NEEHHRLLKGAPFKLNLHPRDYFDANPYFSEESLPPIKKEEKKKTISNTFKPSSPGKKPG
GMKAGTFDPYPSHSADPYVAKLANISGKDDKIFHPPSGPKSRPVESIMTLNVRRALNSKN
YKTSSVPSY
Sequence length 309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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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.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference 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
INTELLECTUAL DISABILITY — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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ARV1 2 shared diseasesDevelopmental and epileptic encephalopathy, Congenital neurologic anomalies 2 shared evidence sourcesDisgenet (Congenital neurologic anomalies), Disgenet (Developmental and epileptic encephalopathy) Related via 2 shared diseases including Developmental and epileptic encephalopathy, Congenital neurologic anomalies — evidence mostly Disgenet. ST7 2 shared diseasesDevelopmental and epileptic encephalopathy, Seizures 2 shared evidence sourcesDisgenet (Developmental and epileptic encephalopathy), Disgenet (Seizures) Related via 2 shared diseases including Developmental and epileptic encephalopathy, Seizures — evidence mostly Disgenet. PURA 2 shared diseasesDevelopmental and epileptic encephalopathy, Congenital neurologic anomalies 2 shared evidence sourcesDisgenet (Congenital neurologic anomalies), Disgenet (Developmental and epileptic encephalopathy) Related via 2 shared diseases including Developmental and epileptic encephalopathy, Congenital neurologic anomalies — evidence mostly Disgenet. UFSP2 3 shared diseasesDevelopmental and epileptic encephalopathy, Congenital neurologic anomalies, Seizures 3 shared evidence sourcesDisgenet (Congenital neurologic anomalies), Disgenet (Developmental and epileptic encephalopathy), Disgenet (Seizures) Related via 3 shared diseases including Developmental and epileptic encephalopathy, Congenital neurologic anomalies — evidence mostly Disgenet. ATP6V0A1 2 shared diseasesDevelopmental and epileptic encephalopathy, Seizures 2 shared evidence sourcesDisgenet (Developmental and epileptic encephalopathy), Disgenet (Seizures) Related via 2 shared diseases including Developmental and epileptic encephalopathy, Seizures — evidence mostly Disgenet.
Global developmental delay Linked via 3 of 5 related genesST7, PURA, ATP6V0A1 Neurodevelopmental disorder Linked via 2 of 5 related genesPURA, ATP6V0A1 Non-specific syndromic intellectual disability Linked via 2 of 5 related genesPURA, ATP6V0A1 Blindness Linked via 1 of 5 related genesARV1 Brain atrophy Linked via 1 of 5 related genesST7