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Aliases for CFAP57 Gene

Aliases for CFAP57 Gene

  • Cilia And Flagella Associated Protein 57 2 3 5
  • Cilia- And Flagella-Associated Protein 57 3 4
  • WD Repeat-Containing Protein 65 3 4
  • WDR65 3 4
  • 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 2 and Van Der Woude Syndrome 1.

Additional gene information for CFAP57 Gene

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

GeneHancer (GH) Regulatory Elements for CFAP57 Gene

Promoters and enhancers for CFAP57 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
GH01J043171 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 608.5 -0.1 -149 2.4 SP1 ZFX ELF3 MNT SIX5 ZNF148 NKRF POLR2A CEBPG CSDE1 CFAP57 MIR6733 SZT2 KDM4A MED8 FAM183A KDM4A-AS1 EBNA1BP2
GH01J043231 Enhancer 0.7 Ensembl ENCODE 57.8 +60.2 60172 1.8 PRDM1 FOSL1 RFX5 NFIC USF2 JUN MAX CFAP57 FAM183A ATP6V0B LOC105378685 GC01P043207 EBNA1BP2
GH01J043283 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 21 +113.1 113148 3.2 SP1 ZNF148 ZNF121 SP5 CTCF GABPA POLR2A EGR1 ZBTB26 FOXA2 C1orf210 CFAP57 SZT2 MPL ENSG00000229431 MED8 CDC20 ENSG00000234694 ELOVL1 TMEM125
GH01J043147 Promoter/Enhancer 1.3 Ensembl ENCODE 17.7 -24.2 -24248 1.4 ZNF121 CSDE1 PRDM1 GLIS2 PKNOX1 ZBTB8A RFX1 PRDM10 ZEB2 PATZ1 CFAP57 EBNA1BP2 FAM183A GC01P043162
GH01J043270 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.9 +98.5 98530 2.1 SP1 EGR1 CREB1 POLR2A ZNF316 RFX1 CTBP1 ZBTB48 PKNOX1 SCRT1 EBNA1BP2 TMEM125 CFAP57 C1orf210 KDM4A-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP57 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFAP57 Gene

Genomic Locations for CFAP57 Gene
chr1:43,172,149-43,254,358
(GRCh38/hg38)
Size:
82,210 bases
Orientation:
Plus strand
chr1:43,637,820-43,720,029
(GRCh37/hg19)
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

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

Suggested Antigen Peptide Sequences for CFAP57 Gene

GenScript: Design optimal peptide antigens:
  • WD repeat-containing protein 65 (WDR65_HUMAN)

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 From GWAS Catalog for CFAP57 Gene

Phenotypes for CFAP57 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP57

Clone Products

  • Applied Biological Materials (abm): Clones for CFAP57 - Now 50% OFF >
  • * CFAP57 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CFAP57 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFAP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005930 axoneme IBA 21873635
genes like me logo Genes that share ontologies with CFAP57: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CFAP57 Gene

Pathways & Interactions for CFAP57 Gene

PathCards logo

SuperPathways for CFAP57 Gene

No Data Available

Interacting Proteins for CFAP57 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000479773%0d9606.ENSP00000306245%0d9606.ENSP00000299163%0d
Selected Interacting proteins: ENSP00000479773 Q96MR6-CFA57_HUMAN for CFAP57 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CFAP57 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060285 cilium-dependent cell motility IBA 21873635
genes like me logo Genes that share ontologies with CFAP57: view

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

(4) REFSEQ mRNAs :
(15) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP57

Clone Products

  • Applied Biological Materials (abm): Clones for CFAP57 - Now 50% OFF >
  • * CFAP57 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CFAP57 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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)

No data available for mRNA expression in normal human tissues , 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 35 34
  • 98.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WDR65 35 34
  • 89.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC679641 34
  • 85.17 (n)
mouse
(Mus musculus)
Mammalia Wdr65 35 34
  • 85.1 (n)
OneToOne
Cfap57 17
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 35 34
  • 65.44 (n)
OneToOne
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 35 34
  • 61.18 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008095 34
  • 45.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4329 35 34
  • 44.49 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP57: view image

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 Variation AA Info Type
rs387907122 uncertain-significance, Van der Woude syndrome 2, - 43,206,744(+) G/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1000039422 -- 43,207,593(+) G/A intron_variant
rs1000043393 -- 43,250,094(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000064956 -- 43,208,299(+) A/G intron_variant
rs1000129119 -- 43,237,751(+) A/G genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information for CFAP57 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP57
Human Gene Mutation Database (HGMD)
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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
van der woude syndrome 2
  • vws2
van der woude syndrome 1
  • vws1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 NK … Schutte BC (American journal of medical genetics. Part A 2011) 2 3 4 58
  2. Transcriptional targeting in the airway using novel gene regulatory elements. (PMID: 22447971) Burnight ER … Sinn PL (American journal of respiratory cell and molecular biology 2012) 2 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 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) 3 4 58

Products for CFAP57 Gene

Sources for CFAP57 Gene

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