CEP104 (centrosomal protein 104)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 9731
Gene name Centrosomal protein 104
Gene symbol CEP104
Synonyms (NCBI Gene)
CFAP256GlyBPJBTS25KIAA0562MRT77ROC22
Chromosome 1
Chromosome location 1p36.32
Summary This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with h
SNPs SNP information provided by dbSNP.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs372048855 A>C Pathogenic Coding sequence variant, stop gained
rs374574638 G>A Pathogenic Coding sequence variant, stop gained
rs776094913 GAGTAACGGG>- Pathogenic Coding sequence variant, frameshift variant
rs869025276 A>G Pathogenic Splice donor variant
rs869025277 ->A Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
780
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (780)
miRTarBase ID miRNA Experiments Reference
MIRT046262 hsa-miR-23b-3p CLASH 23622248
MIRT036030 hsa-miR-1301-3p CLASH 23622248
MIRT504031 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504030 hsa-miR-511-3p HITS-CLIP 21572407
MIRT504028 hsa-miR-223-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005515 Function Protein binding IPI 26420826, 32453716, 36606424
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IDA 21399614
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616690 24866 ENSG00000116198
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60308
Protein name Centrosomal protein of 104 kDa (Cep104)
Protein function Required for ciliogenesis and for structural integrity at the ciliary tip.
PDB 5LPH , 5LPI
Family and domains
Sequence 
MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQ
LLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDA
VGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSED
PALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAI
ADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRR
PFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVD
PLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPL
TEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRA
SVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDS
SARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGT
GSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNIL
YKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKE
SDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLML
TRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEK
LANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLG
SKAGSKIPTPKGGLSKSSSRTYAKR
Sequence length 925
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Gene SNPs miRNA 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 Causal Diseases (9)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autism spectrum disorder Likely pathogenic rs2525448659 RCV003127370
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CEP104-related disorder Likely pathogenic rs2525430282, rs778850368 RCV003400085
RCV003418846
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia Pathogenic rs1570858523 RCV001003566
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder Pathogenic rs1570858523 RCV001003566
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (27)
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
Acute myeloid leukemia Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 28017521, 31412255
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ciliopathies Ciliopathy Pubtator 28017521, 32820051, 34196201 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital cerebral hernia Congenital Cerebral Hernia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital coloboma of iris Congenital Coloboma Of Iris HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Familial aplasia of the vermis Cerebellar vermis agenesis BEFREE 26477546, 31412255, 31625690
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis Cerebellar vermis agenesis ORPHANET_DG 26477546
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis Cerebellar vermis agenesis GENOMICS_ENGLAND_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Developmental Delay HPO_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)