Aliases for CFAP94 Gene

Aliases for CFAP94 Gene

  • Cilia And Flagella Associated Protein 94 2 3
  • Cancer Susceptibility 1 2 3 5
  • PPP1R54 2 3 4
  • LAS1 2 3 4
  • Cancer Susceptibility Candidate Gene 1 Protein 3 4
  • Protein Phosphatase 1 Regulatory Subunit 54 3 4
  • Lung Adenoma Susceptibility 1-Like Protein 3 4
  • Protein CASC1 3 4
  • CASC1 3 5
  • Protein Phosphatase 1, Regulatory Subunit 54 2
  • Cancer Susceptibility Candidate 1 3
  • FLJ10921 2

External Ids for CFAP94 Gene

Previous HGNC Symbols for CFAP94 Gene

  • CASC1

Summaries for CFAP94 Gene

GeneCards Summary for CFAP94 Gene

CFAP94 (Cilia And Flagella Associated Protein 94) is a Protein Coding gene. Diseases associated with CFAP94 include Lung Adenoma and Respiratory System Benign Neoplasm.

Additional gene information for CFAP94 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFAP94 Gene

Genomics for CFAP94 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFAP94 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFAP94 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFAP94

Genomic Locations for CFAP94 Gene

Genomic Locations for CFAP94 Gene
chr12:25,107,057-25,195,162
(GRCh38/hg38)
Size:
88,106 bases
Orientation:
Minus strand
chr12:25,261,223-25,348,096
(GRCh37/hg19)
Size:
86,874 bases
Orientation:
Minus strand

Genomic View for CFAP94 Gene

Genes around CFAP94 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFAP94 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFAP94 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFAP94 Gene

Proteins for CFAP94 Gene

  • Protein details for CFAP94 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6TDU7-CASC1_HUMAN
    Recommended name:
    Protein CASC1
    Protein Accession:
    Q6TDU7
    Secondary Accessions:
    • B4DNP2
    • F5H6T6
    • Q17RL2
    • Q4G171
    • Q5U5K5
    • Q9NV50

    Protein attributes for CFAP94 Gene

    Size:
    716 amino acids
    Molecular mass:
    83160 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91908.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91908.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CFAP94 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFAP94 Gene

Post-translational modifications for CFAP94 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CFAP94 Gene

Domains & Families for CFAP94 Gene

Gene Families for CFAP94 Gene

Protein Domains for CFAP94 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CFAP94 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57643, highly similar to Homo sapiens cancer susceptibility candidate 1 (CASC1), mRNA (B4DX11_HUMAN)
  • Lung adenoma susceptibility 1-like protein (CASC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6TDU7

UniProtKB/Swiss-Prot:

CASC1_HUMAN :
  • Belongs to the CASC1 family.
Family:
  • Belongs to the CASC1 family.
genes like me logo Genes that share domains with CFAP94: view

Function for CFAP94 Gene

genes like me logo Genes that share phenotypes with CFAP94: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFAP94

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFAP94 Gene

Localization for CFAP94 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 CFAP94 gene
Compartment Confidence
nucleus 3
plasma membrane 1
cytoskeleton 1
mitochondrion 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 CFAP94 Gene

Pathways & Interactions for CFAP94 Gene

PathCards logo

SuperPathways for CFAP94 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFAP94 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CFAP94 Gene

Drugs & Compounds for CFAP94 Gene

No Compound Related Data Available

Transcripts for CFAP94 Gene

mRNA/cDNA for CFAP94 Gene

15 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 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 CFAP94

Alternative Splicing Database (ASD) splice patterns (SP) for CFAP94 Gene

No ASD Table

Relevant External Links for CFAP94 Gene

GeneLoc Exon Structure for
CFAP94

Expression for CFAP94 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFAP94

SOURCE GeneReport for Unigene cluster for CFAP94 Gene:

Hs.407771
No Expression Related Data Available

Primer Products

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 differential expression in normal tissues , Protein expression , 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 CFAP94 Gene

Orthologs for CFAP94 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFAP94 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CASC1 30 31
  • 99.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CASC1 30 31
  • 88.63 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CASC1 30 31
  • 86.55 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Casc1 30 17 31
  • 70.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Casc1 30
  • 70.29 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CASC1 31
  • 53 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CASC1 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC101750345 30
  • 62.55 (n)
CASC1 31
  • 48 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CASC1 31
  • 45 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii casc1 30 31
  • 51.56 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToOne
Species where no ortholog for CFAP94 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CFAP94 Gene

ENSEMBL:
Gene Tree for CFAP94 (if available)
TreeFam:
Gene Tree for CFAP94 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFAP94: view image

Paralogs for CFAP94 Gene

No data available for Paralogs for CFAP94 Gene

Variants for CFAP94 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFAP94 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10842496 - p.Arg33Ser
rs859146 - p.Ala633Glu

Additional dbSNP identifiers (rs#s) for CFAP94 Gene

Structural Variations from Database of Genomic Variants (DGV) for CFAP94 Gene

Variant ID Type Subtype PubMed ID
esv2064539 CNV deletion 18987734
esv2471634 CNV deletion 19546169
esv2652823 CNV deletion 19546169
esv2656765 CNV deletion 23128226
esv2678918 CNV deletion 23128226
esv3628889 CNV loss 21293372
esv3628890 CNV loss 21293372
esv3628891 CNV loss 21293372
nsv1125543 CNV tandem duplication 24896259
nsv469169 CNV gain 19166990
nsv478234 CNV novel sequence insertion 20440878
nsv515612 CNV gain 19592680
nsv53768 CNV deletion 16902084
nsv557775 CNV gain 21841781
nsv557796 CNV loss 21841781
nsv557797 CNV loss 21841781
nsv951341 CNV deletion 24416366

Variation tolerance for CFAP94 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.31; 90.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CFAP94 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFAP94

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFAP94 Gene

Disorders for CFAP94 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CFAP94 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lung adenoma
  • adenoma of lung
respiratory system benign neoplasm
cantu syndrome
  • hypertrichotic osteochondrodysplasia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CFAP94: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFAP94 Gene

Publications for CFAP94 Gene

  1. A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients. (PMID: 16410263) Manenti G … Dragani TA (Carcinogenesis 2006) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Positional cloning of the major quantitative trait locus underlying lung tumor susceptibility in mice. (PMID: 14583591) Zhang Z … You M (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CFAP94 Gene

Sources for CFAP94 Gene