Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CFAP57 Gene

Aliases for CFAP57 Gene

  • Cilia And Flagella Associated Protein 57 2 3 5
  • WD Repeat-Containing Protein 65 3 4
  • WDR65 3 4
  • Cilia- And Flagella-Associated Protein 57 3
  • WD Repeat Domain 65 2
  • VWS2 3

External Ids for CFAP57 Gene

Previous HGNC Symbols for CFAP57 Gene

  • WDR65

Summaries for CFAP57 Gene

Entrez Gene Summary for CFAP57 Gene

  • This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for CFAP57 Gene

CFAP57 (Cilia And Flagella Associated Protein 57) is a Protein Coding gene. Diseases associated with CFAP57 include Van Der Woude Syndrome and Van Der Woude Syndrome 2.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFAP57 Gene

Genomics for CFAP57 Gene

Regulatory Elements for CFAP57 Gene

Enhancers for CFAP57 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G043231 0.9 Ensembl ENCODE 57.8 +60.4 60369 1.4 PAF1 JUN BHLHE40 USF2 MAX RFX5 FOSL1 NFIC FOS PRDM1 CFAP57 FAM183A ATP6V0B LOC105378685 GC01P043207
GH01G043283 1.4 Ensembl ENCODE dbSUPER 21 +113.1 113148 3.2 FOXA2 SIN3A RAD21 RARA ZNF121 EGR1 SP5 CEBPB ZNF592 SMARCA4 CFAP57 SZT2 MPL ENSG00000229431 MED8 CDC20 LOC105378687 ELOVL1 TMEM125 C1orf210
GH01G043147 1.1 Ensembl ENCODE 17.7 -24.2 -24249 1.0 HDAC1 PKNOX1 ARID4B KLF17 SIN3A BMI1 ETS1 ZNF121 GLIS2 SP3 CFAP57 EBNA1BP2 FAM183A GC01P043162
GH01G042784 1.1 FANTOM5 Ensembl 16.3 -386.9 -386908 1.1 CTCF PKNOX1 TAF1 AGO1 MAX RAD21 NR2F2 YY1 FOXA1 GABPA SVBP ZMYND12 CFAP57 YBX1 TMEM269 GC01M042733
GH01G043204 1.5 Ensembl ENCODE dbSUPER 11.4 +34.0 34016 4.1 ATF1 ARID4B SIN3A BRCA1 ETS1 ELK1 GATA2 CBX5 FOS PAF1 CFAP57 FAM183A GC01P043207 RNA5SP46
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFAP57 on UCSC Golden Path with GeneCards custom track

Promoters for CFAP57 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005557 -49 1800 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF143 ZNF207 ZNF263

Genomic Location for CFAP57 Gene

Chromosome:
1
Start:
43,172,149 bp from pter
End:
43,254,358 bp from pter
Size:
82,210 bases
Orientation:
Plus strand

Genomic View for CFAP57 Gene

Genes around CFAP57 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP57 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP57 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP57 Gene

Proteins for CFAP57 Gene

  • Protein details for CFAP57 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MR6-CFA57_HUMAN
    Recommended name:
    Cilia- and flagella-associated protein 57
    Protein Accession:
    Q96MR6
    Secondary Accessions:
    • A6NKQ3
    • Q17RI9
    • Q5TAI0

    Protein attributes for CFAP57 Gene

    Size:
    1250 amino acids
    Molecular mass:
    144961 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CFAP57 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP57 Gene

Post-translational modifications for CFAP57 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP57 Gene

Domains & Families for CFAP57 Gene

Gene Families for CFAP57 Gene

Suggested Antigen Peptide Sequences for CFAP57 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CFAP57: view

No data available for UniProtKB/Swiss-Prot for CFAP57 Gene

Function for CFAP57 Gene

Molecular function for CFAP57 Gene

UniProtKB/Swiss-Prot Induction:
May be an IRF6-target.

Phenotypes for CFAP57 Gene

GenomeRNAi human phenotypes for CFAP57:
genes like me logo Genes that share phenotypes with CFAP57: view

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP57 Gene

Localization for CFAP57 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 CFAP57 gene
Compartment Confidence
cytosol 3
extracellular 2
plasma membrane 1
peroxisome 1
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CFAP57 Gene

Pathways & Interactions for CFAP57 Gene

SuperPathways for CFAP57 Gene

No Data Available

Interacting Proteins for CFAP57 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000435310%0d%0a9606.ENSP00000306245%0d%0a
Selected Interacting proteins: ENSP00000435310 Q96MR6-CFA57_HUMAN for CFAP57 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CFAP57 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP57 Gene

Drugs & Compounds for CFAP57 Gene

No Compound Related Data Available

Transcripts for CFAP57 Gene

mRNA/cDNA for CFAP57 Gene

(16) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP57 Gene

No ASD Table

Relevant External Links for CFAP57 Gene

GeneLoc Exon Structure for
CFAP57
ECgene alternative splicing isoforms for
CFAP57

Expression for CFAP57 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFAP57 Gene

Protein differential expression in normal tissues from HIPED for CFAP57 Gene

This gene is overexpressed in Bone marrow stromal cell (58.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CFAP57 Gene



NURSA nuclear receptor signaling pathways regulating expression of CFAP57 Gene:

CFAP57

Evidence on tissue expression from TISSUES for CFAP57 Gene

  • Lung(2.4)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with CFAP57: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CFAP57 Gene

Orthologs for CFAP57 Gene

This gene was present in the common ancestor of animals.

Orthologs for CFAP57 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WDR65 34 35
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia WDR65 34 35
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia LOC679641 34
  • 85.17 (n)
mouse
(Mus musculus)
Mammalia Wdr65 34 35
  • 85.1 (n)
Cfap57 16
platypus
(Ornithorhynchus anatinus)
Mammalia WDR65 35
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WDR65 35
  • 46 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WDR65 35
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves WDR65 34 35
  • 65.44 (n)
lizard
(Anolis carolinensis)
Reptilia WDR65 35
  • 35 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wdr65 34
  • 68.14 (n)
zebrafish
(Danio rerio)
Actinopterygii wdr65 34 35
  • 61.18 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008095 34
  • 45.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4329 34 35
  • 44.49 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToOne
Species where no ortholog for CFAP57 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 CFAP57 Gene

ENSEMBL:
Gene Tree for CFAP57 (if available)
TreeFam:
Gene Tree for CFAP57 (if available)

Paralogs for CFAP57 Gene

No data available for Paralogs for CFAP57 Gene

Variants for CFAP57 Gene

Sequence variations from dbSNP and Humsavar for CFAP57 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs387907122 Uncertain significance 43,206,744(+) ATGCA(G/T)ATGAT intron-variant, nc-transcript-variant, reference, missense
rs1000003008 -- 43,218,616(+) AAAAA(-/AG)AGAAA intron-variant
rs1000039422 -- 43,207,593(+) CAAGC(A/G)ATGCA intron-variant
rs1000043393 -- 43,250,094(+) TTTCA(C/T)CTAAC intron-variant
rs1000064956 -- 43,208,299(+) TACTG(A/G)GTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFAP57 Gene

Variant ID Type Subtype PubMed ID
dgv252n54 CNV loss 21841781
dgv253n54 CNV loss 21841781
dgv76n106 CNV deletion 24896259
esv2148585 CNV deletion 18987734
esv2565866 CNV deletion 19546169
esv2670515 CNV deletion 23128226
esv2747563 CNV deletion 23290073
esv27491 CNV loss 19812545
esv3561371 CNV deletion 23714750
esv3585863 CNV loss 21293372
esv3585864 CNV loss 21293372
nsv1070418 CNV deletion 25765185
nsv1119682 CNV deletion 24896259
nsv1148867 CNV insertion 26484159
nsv461383 CNV loss 19166990
nsv473567 CNV novel sequence insertion 20440878
nsv523115 CNV loss 19592680
nsv546112 CNV loss 21841781
nsv546113 CNV loss 21841781
nsv822464 CNV loss 20364138
nsv822476 CNV loss 20364138
nsv829693 CNV loss 17160897

Variation tolerance for CFAP57 Gene

Residual Variation Intolerance Score: 73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.67; 82.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFAP57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP57

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP57 Gene

Disorders for CFAP57 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CFAP57 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
van der woude syndrome
  • myopathy, actin, congenital, with excess of thin myofilaments
van der woude syndrome 2
  • vws2
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CFAP57

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFAP57
genes like me logo Genes that share disorders with CFAP57: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP57 Gene

Publications for CFAP57 Gene

  1. Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome. (PMID: 21574244) Rorick N.K. … Schutte B.C. (Am. J. Med. Genet. A 2011) 2 3 4 64
  2. Transcriptional targeting in the airway using novel gene regulatory elements. (PMID: 22447971) Burnight E.R. … Sinn P.L. (Am. J. Respir. Cell Mol. Biol. 2012) 2 3 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CFAP57 Gene

Sources for CFAP57 Gene

Content
Loading form....