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Aliases for CFAP69 Gene

Aliases for CFAP69 Gene

  • Cilia And Flagella Associated Protein 69 2 3 5
  • C7orf63 3 4
  • Flagellar Protein 69 Homolog (Chlamydomonas) 2
  • Cilia- And Flagella-Associated Protein 69 3
  • Chromosome 7 Open Reading Frame 63 2
  • Hypothetical Protein FLJ21062 2
  • FAP69 3

External Ids for CFAP69 Gene

Previous HGNC Symbols for CFAP69 Gene

  • C7orf63

Summaries for CFAP69 Gene

GeneCards Summary for CFAP69 Gene

CFAP69 (Cilia And Flagella Associated Protein 69) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding.

Additional gene information for CFAP69 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 CFAP69 Gene

Genomics for CFAP69 Gene

GeneHancer (GH) Regulatory Elements for CFAP69 Gene

Promoters and enhancers for CFAP69 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
GH07I090244 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.2 +0.4 393 2 FOXA2 SMAD1 ARID4B NEUROD1 SIN3A ZNF2 IRF4 YY1 ZNF207 ZNF143 CFAP69 STEAP2 GTPBP10 STEAP1 GC07P090252
GH07I090222 Enhancer 1 Ensembl ENCODE dbSUPER 11.4 -22.1 -22080 1.1 SOX13 ZNF687 NFIA NR2F1 CEBPB ZNF592 ZNF217 NFIC EGR1 CEBPA STEAP2 CFAP69 ENSG00000207488 GTPBP10 GC07P090219
GH07I090213 Enhancer 0.7 Ensembl ENCODE dbSUPER 11.7 -32.0 -31973 0.4 ZNF148 STEAP2-AS1 STEAP2 CFAP69 ENSG00000207488 GC07P090219
GH07I090214 Promoter/Enhancer 0.7 EPDnew dbSUPER 11.7 -31.4 -31374 0.1 STEAP2 CFAP69 ENSG00000207488 STEAP2-AS1 GC07P090219
GH07I090275 Enhancer 0.5 ENCODE 16.2 +31.7 31731 1.8 FOXA2 HNF4G HNF4A MAFK ZNF7 CFAP69 STEAP1 STEAP2 ENSG00000207488 ENSG00000234459 GC07P090289
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CFAP69 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP69 Gene

Genomic Locations for CFAP69 Gene
chr7:90,245,174-90,324,208
(GRCh38/hg38)
Size:
79,035 bases
Orientation:
Plus strand
chr7:89,874,488-89,940,377
(GRCh37/hg19)

Genomic View for CFAP69 Gene

Genes around CFAP69 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP69 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP69 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP69 Gene

Proteins for CFAP69 Gene

  • Protein details for CFAP69 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A5D8W1-CFA69_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 69
    Protein Accession:
    A5D8W1
    Secondary Accessions:
    • A3KMP9
    • B4DYW6
    • B4DZP7
    • B9EIM7
    • Q6V705
    • Q8IY89
    • Q9H7C2

    Protein attributes for CFAP69 Gene

    Size:
    941 amino acids
    Molecular mass:
    105883 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14972.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP69 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP69 Gene

Post-translational modifications for CFAP69 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP69 Gene

Domains & Families for CFAP69 Gene

Gene Families for CFAP69 Gene

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

Protein Domains for CFAP69 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CFAP69: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for CFAP69 Gene

Function for CFAP69 Gene

genes like me logo Genes that share phenotypes with CFAP69: view

Animal Models for CFAP69 Gene

MGI Knock Outs for CFAP69:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP69 Gene

Localization for CFAP69 Gene

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 CFAP69 gene
Compartment Confidence
plasma membrane 3
nucleus 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for CFAP69 Gene

Pathways & Interactions for CFAP69 Gene

SuperPathways for CFAP69 Gene

No Data Available

Interacting Proteins for CFAP69 Gene

Gene Ontology (GO) - Biological Process for CFAP69 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP69 Gene

Drugs & Compounds for CFAP69 Gene

No Compound Related Data Available

Transcripts for CFAP69 Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP69 Gene

No ASD Table

Relevant External Links for CFAP69 Gene

GeneLoc Exon Structure for
CFAP69
ECgene alternative splicing isoforms for
CFAP69

Expression for CFAP69 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP69 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CFAP69 Gene

This gene is overexpressed in Plasma (56.1) and Brain (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP69 Gene



Protein tissue co-expression partners for CFAP69 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFAP69 Gene:

CFAP69
genes like me logo Genes that share expression patterns with CFAP69: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP69 Gene

Orthologs for CFAP69 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP69 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf63 33
  • 99.36 (n)
C7orf63 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C4H7orf63 33
  • 90.55 (n)
C7orf63 34
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C14H7orf63 33
  • 90.06 (n)
C7orf63 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100910867 33
  • 85.34 (n)
mouse
(Mus musculus)
Mammalia A330021E22Rik 33 34
  • 84.7 (n)
Cfap69 16
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf63 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C7orf63 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2H7ORF63 33
  • 67.94 (n)
C7orf63 34
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C7orf63 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494509 33
  • 64.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
-- 34
  • 30 (a)
OneToMany
Species where no ortholog for CFAP69 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CFAP69 Gene

ENSEMBL:
Gene Tree for CFAP69 (if available)
TreeFam:
Gene Tree for CFAP69 (if available)

Paralogs for CFAP69 Gene

Pseudogenes.org Pseudogenes for CFAP69 Gene

genes like me logo Genes that share paralogs with CFAP69: view

No data available for Paralogs for CFAP69 Gene

Variants for CFAP69 Gene

Sequence variations from dbSNP and Humsavar for CFAP69 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000004670 -- 90,271,045(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000027284 -- 90,282,372(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000094082 -- 90,289,040(+) T/A genic_downstream_transcript_variant, intron_variant
rs1000200912 -- 90,310,977(+) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000220488 -- 90,272,678(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP69 Gene

Variant ID Type Subtype PubMed ID
dgv11493n54 CNV gain 21841781
dgv6525n100 CNV gain 25217958
dgv6529n100 CNV gain 25217958
esv1004083 CNV insertion 20482838
esv24241 CNV loss 19812545
esv2734807 CNV deletion 23290073
esv2734808 CNV deletion 23290073
esv2734809 CNV deletion 23290073
esv2752188 CNV gain 17911159
esv32582 CNV gain 17666407
esv3576402 CNV gain 25503493
nsv464626 CNV gain 19166990
nsv507403 OTHER sequence alteration 20534489
nsv515997 CNV gain+loss 19592680

Variation tolerance for CFAP69 Gene

Residual Variation Intolerance Score: 78.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.63; 94.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP69 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP69

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP69 Gene

Disorders for CFAP69 Gene

Additional Disease Information for CFAP69

No disorders were found for CFAP69 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CFAP69 Gene

Publications for CFAP69 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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58
  4. DNA methylation profiles in diffuse large B-cell lymphoma and their relationship to gene expression status. (PMID: 18288132) Pike BL … Hacia JG (Leukemia 2008) 3 58
  5. 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) 4 58

Products for CFAP69 Gene

Sources for CFAP69 Gene

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