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Aliases for CFAP58 Gene

Aliases for CFAP58 Gene

  • Cilia And Flagella Associated Protein 58 2 3 5
  • Coiled-Coil Domain-Containing Protein 147 3 4
  • Coiled-Coil Domain Containing 147 2 3
  • C10orf80 3 4
  • CCDC147 3 4
  • Cilia- And Flagella-Associated Protein 58 3
  • Chromosome 10 Open Reading Frame 80 2
  • BA127L20.4 (Novel Protein) 3
  • BA127L20.5 (Novel Protein) 3
  • BA127L20.4 3
  • BA127L20.5 3
  • BA554P13.1 3

External Ids for CFAP58 Gene

Previous HGNC Symbols for CFAP58 Gene

  • C10orf80
  • CCDC147

Summaries for CFAP58 Gene

GeneCards Summary for CFAP58 Gene

CFAP58 (Cilia And Flagella Associated Protein 58) is a Protein Coding gene. An important paralog of this gene is CCDC146.

Additional gene information for CFAP58 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP58 Gene

Genomics for CFAP58 Gene

GeneHancer (GH) Regulatory Elements for CFAP58 Gene

Promoters and enhancers for CFAP58 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I104348 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 575.2 +12.9 12929 5.5 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 IRF4 YY1 ZNF207 CFAP58 ITPRIP PDCD11 ENSG00000260461 SFR1 GSTO1 SLK CFAP58-AS1
GH10I104316 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 18.4 -9.8 -9787 24.8 FEZF1 YY1 ZNF213 ZNF143 ZNF548 SP3 MEF2D ZNF610 GLIS1 NBN ITPRIP GSTO2 PDCD11 CFAP58 SFR1 CFAP58-AS1 PCGF6 TAF5 ENSG00000260461 GSTO1
GH10I104249 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -84.8 -84841 7.6 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GSTO1 GSTO2 ENSG00000260461 PDCD11 CFAP58 CFAP58-AS1 GC10M104249 MIR4482
GH10I104267 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.8 -70.0 -70029 2.8 HDGF PKNOX1 SIN3A ZNF2 BRCA1 ETS1 ZNF207 ZNF143 FOS RUNX3 GSTO2 MIR4482 PDCD11 TAF5 GSTO1 PCGF6 CFAP58 CFAP58-AS1 GC10P104302
GH10I104274 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 12.2 -63.4 -63398 1.7 CLOCK MZF1 SIN3A KLF5 RAD21 YY1 ZNF335 ZNF121 GLIS2 ZNF143 GSTO2 GSTO1 ENSG00000260461 PDCD11 CFAP58 CFAP58-AS1 GC10P104302
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP58 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP58 Gene

Genomic Locations for CFAP58 Gene
chr10:104,338,558-104,455,090
(GRCh38/hg38)
Size:
116,533 bases
Orientation:
Plus strand
chr10:106,113,522-106,214,848
(GRCh37/hg19)

Genomic View for CFAP58 Gene

Genes around CFAP58 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP58 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP58 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP58 Gene

Proteins for CFAP58 Gene

  • Protein details for CFAP58 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T655-CFA58_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 58
    Protein Accession:
    Q5T655
    Secondary Accessions:
    • D3DRA6
    • Q8NA27

    Protein attributes for CFAP58 Gene

    Size:
    872 amino acids
    Molecular mass:
    103417 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CFAP58 Gene

Post-translational modifications for CFAP58 Gene

No Post-translational modifications

Other Protein References for CFAP58 Gene

No data available for DME Specific Peptides for CFAP58 Gene

Domains & Families for CFAP58 Gene

Gene Families for CFAP58 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CFAP58 Gene

Suggested Antigen Peptide Sequences for CFAP58 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T655

UniProtKB/Swiss-Prot:

CFA58_HUMAN :
  • Belongs to the CFAP58 family.
Family:
  • Belongs to the CFAP58 family.
genes like me logo Genes that share domains with CFAP58: view

Function for CFAP58 Gene

Phenotypes From GWAS Catalog for CFAP58 Gene

Gene Ontology (GO) - Molecular Function for CFAP58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CFAP58: view
genes like me logo Genes that share phenotypes with CFAP58: view

miRNA for CFAP58 Gene

miRTarBase miRNAs that target CFAP58

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CFAP58 Gene

Localization for CFAP58 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFAP58 Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFAP58 gene
Compartment Confidence
extracellular 5
nucleus 4
cytosol 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP58 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA,HDA 23580065
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with CFAP58: view

Pathways & Interactions for CFAP58 Gene

SuperPathways for CFAP58 Gene

No Data Available

Interacting Proteins for CFAP58 Gene

Gene Ontology (GO) - Biological Process for CFAP58 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP58 Gene

Drugs & Compounds for CFAP58 Gene

No Compound Related Data Available

Transcripts for CFAP58 Gene

mRNA/cDNA for CFAP58 Gene

(6) REFSEQ mRNAs :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP58 Gene

No ASD Table

Relevant External Links for CFAP58 Gene

GeneLoc Exon Structure for
CFAP58
ECgene alternative splicing isoforms for
CFAP58

Expression for CFAP58 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP58 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP58 Gene

This gene is overexpressed in Nasal epithelium (34.4), Lavage (17.2), and Platelet (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP58 Gene



NURSA nuclear receptor signaling pathways regulating expression of CFAP58 Gene:

CFAP58
genes like me logo Genes that share expression patterns with CFAP58: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP58 Gene

Orthologs for CFAP58 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP58 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC147 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia CCDC147 33 34
  • 89.79 (n)
cow
(Bos Taurus)
Mammalia CCDC147 33 34
  • 89.02 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc147 33
  • 84.36 (n)
mouse
(Mus musculus)
Mammalia Ccdc147 33 34
  • 83.96 (n)
Cfap58 16
oppossum
(Monodelphis domestica)
Mammalia CCDC147 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC147 33 34
  • 72.26 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC147 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc147 33
  • 72.31 (n)
Str.17238 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32243 33
zebrafish
(Danio rerio)
Actinopterygii ccdc147 33 34
  • 65.65 (n)
Dr.18541 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003679 33
  • 47.14 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5882 33 34
  • 43.21 (n)
Ory 34
  • 24 (a)
ManyToMany
CG6059 34
  • 19 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9178 34
  • 63 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4096 33
Species where no ortholog for CFAP58 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFAP58 Gene

ENSEMBL:
Gene Tree for CFAP58 (if available)
TreeFam:
Gene Tree for CFAP58 (if available)

Paralogs for CFAP58 Gene

Paralogs for CFAP58 Gene

genes like me logo Genes that share paralogs with CFAP58: view

Variants for CFAP58 Gene

Sequence variations from dbSNP and Humsavar for CFAP58 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000014029 -- 104,409,889(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000019057 -- 104,404,530(+) A/T genic_downstream_transcript_variant, intron_variant
rs1000065272 -- 104,452,433(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000066904 -- 104,376,037(+) G/T intron_variant
rs1000087210 -- 104,409,587(+) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP58 Gene

Variant ID Type Subtype PubMed ID
nsv25421 CNV deletion 16902084
nsv1144515 CNV deletion 24896259
esv3546787 CNV deletion 23714750
esv2740373 CNV deletion 23290073
esv2136408 CNV deletion 18987734
esv2112142 CNV deletion 18987734

Variation tolerance for CFAP58 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.89; 89.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP58 Gene

Human Gene Mutation Database (HGMD)
CFAP58
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP58

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP58 Gene

Disorders for CFAP58 Gene

Additional Disease Information for CFAP58

No disorders were found for CFAP58 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP58 Gene

Publications for CFAP58 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer. (PMID: 26762739) Liu Y … Spitz MR (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2016) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for CFAP58 Gene

Sources for CFAP58 Gene

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