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Aliases for CWC27 Gene

Aliases for CWC27 Gene

  • CWC27 Spliceosome Associated Protein Homolog 2 3 5
  • Serologically Defined Colon Cancer Antigen 10 2 3 4
  • Antigen NY-CO-10 3 4
  • PPIase CWC27 3 4
  • SDCCAG10 3 4
  • CWC27 Spliceosome-Associated Protein Homolog (S. Cerevisiae) 2
  • Peptidyl-Prolyl Cis-Trans Isomerase CWC27 Homolog 3
  • CWC27 Spliceosome-Associated Protein Homolog 2
  • Peptidyl-Prolyl Cis-Trans Isomerase SDCCAG10 3
  • PPIase SDCCAG10 3
  • EC 5.2.1.8 4
  • SDCCAG-10 3
  • NY-CO-10 3

External Ids for CWC27 Gene

Previous HGNC Symbols for CWC27 Gene

  • SDCCAG10

Previous GeneCards Identifiers for CWC27 Gene

  • GC05P064064
  • GC05P061019

Summaries for CWC27 Gene

GeneCards Summary for CWC27 Gene

CWC27 (CWC27 Spliceosome Associated Protein Homolog) is a Protein Coding gene. Diseases associated with CWC27 include Metaphyseal Chondrodysplasia With Retinitis Pigmentosa. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. GO annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is PPIL4.

UniProtKB/Swiss-Prot for CWC27 Gene

  • PPIases accelerate the folding of proteins.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CWC27 Gene

Genomics for CWC27 Gene

Regulatory Elements for CWC27 Gene

Enhancers for CWC27 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
GH05G064869 1 Ensembl ENCODE 11.7 +100.8 100829 0.9 SUZ12 SIN3A RBBP5 POLR2A NR2F6 NFE2 FOS NFE2L2 EZH2 PHF8 CWC27 GC05P064860 GC05P064901
GH05G064791 0.5 ENCODE 15.4 +24.2 24214 3.0 FOXA2 GATA2 ZNF629 MYNN CWC27 SREK1IP1 GC05P064823
GH05G064939 1.2 Ensembl ENCODE 4.6 +171.0 170970 1.0 ELF3 FOXA2 RAD21 ZNF2 THRB ZNF48 RARA GLIS2 EGR1 KLF7 CWC27 GC05M064911 GC05P064979
GH05G064836 0.3 FANTOM5 11.6 +68.1 68113 0.3 CWC27 GC05P064823 GC05P064860
GH05G064784 0.7 ENCODE 0.4 +15.7 15681 0.1 CTCF ZNF654 CEBPB TRIM22 CEBPG REST RAD21 KLF16 SMC3 ZNF143 CWC27 GC05P064823
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CWC27 on UCSC Golden Path with GeneCards custom track

Promoters for CWC27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000181522 -118 2401 PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for CWC27 Gene

Chromosome:
5
Start:
64,768,918 bp from pter
End:
65,018,763 bp from pter
Size:
249,846 bases
Orientation:
Plus strand

Genomic View for CWC27 Gene

Genes around CWC27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CWC27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CWC27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CWC27 Gene

Proteins for CWC27 Gene

  • Protein details for CWC27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UX04-CWC27_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase CWC27 homolog
    Protein Accession:
    Q6UX04
    Secondary Accessions:
    • O60529
    • O60530
    • Q96EM3

    Protein attributes for CWC27 Gene

    Size:
    472 amino acids
    Molecular mass:
    53847 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC18041.1; Type=Frameshift; Positions=41; Evidence={ECO:0000305}; Sequence=AAC18042.1; Type=Frameshift; Positions=136; Evidence={ECO:0000305}; Sequence=AAH12117.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CWC27 Gene

    Alternative splice isoforms for CWC27 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CWC27 Gene

Post-translational modifications for CWC27 Gene

  • Glycosylation at isoforms=2109 and isoforms=2201
  • Modification sites at PhosphoSitePlus

Other Protein References for CWC27 Gene

No data available for DME Specific Peptides for CWC27 Gene

Domains & Families for CWC27 Gene

Gene Families for CWC27 Gene

Suggested Antigen Peptide Sequences for CWC27 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UX04

UniProtKB/Swiss-Prot:

CWC27_HUMAN :
  • Belongs to the cyclophilin-type PPIase family.
Family:
  • Belongs to the cyclophilin-type PPIase family.
genes like me logo Genes that share domains with CWC27: view

Function for CWC27 Gene

Molecular function for CWC27 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot Function:
PPIases accelerate the folding of proteins.

Enzyme Numbers (IUBMB) for CWC27 Gene

Gene Ontology (GO) - Molecular Function for CWC27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with CWC27: view
genes like me logo Genes that share phenotypes with CWC27: view

Animal Models for CWC27 Gene

MGI Knock Outs for CWC27:

Animal Model Products

miRNA for CWC27 Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CWC27

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CWC27 Gene

Localization for CWC27 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 CWC27 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for CWC27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with CWC27: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CWC27 Gene

Pathways & Interactions for CWC27 Gene

genes like me logo Genes that share pathways with CWC27: view

Pathways by source for CWC27 Gene

Gene Ontology (GO) - Biological Process for CWC27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0006457 protein folding IEA --
genes like me logo Genes that share ontologies with CWC27: view

No data available for SIGNOR curated interactions for CWC27 Gene

Drugs & Compounds for CWC27 Gene

No Compound Related Data Available

Transcripts for CWC27 Gene

Unigene Clusters for CWC27 Gene

CWC27 spliceosome-associated protein homolog (S. cerevisiae):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CWC27

Alternative Splicing Database (ASD) splice patterns (SP) for CWC27 Gene

No ASD Table

Relevant External Links for CWC27 Gene

GeneLoc Exon Structure for
CWC27
ECgene alternative splicing isoforms for
CWC27

Expression for CWC27 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CWC27 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CWC27 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.2) and CD8 Tcells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CWC27 Gene



Protein tissue co-expression partners for CWC27 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CWC27 Gene:

CWC27

SOURCE GeneReport for Unigene cluster for CWC27 Gene:

Hs.371372

Evidence on tissue expression from TISSUES for CWC27 Gene

  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with CWC27: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CWC27 Gene

Orthologs for CWC27 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CWC27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CWC27 34 35
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia CWC27 34 35
  • 93.15 (n)
dog
(Canis familiaris)
Mammalia CWC27 34 35
  • 92.57 (n)
mouse
(Mus musculus)
Mammalia Cwc27 34 16 35
  • 86.47 (n)
rat
(Rattus norvegicus)
Mammalia Cwc27 34
  • 86.08 (n)
oppossum
(Monodelphis domestica)
Mammalia CWC27 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CWC27 34 35
  • 77.3 (n)
lizard
(Anolis carolinensis)
Reptilia CWC27 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cwc27 34
  • 71.62 (n)
Str.8713 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.13268 34
zebrafish
(Danio rerio)
Actinopterygii cwc27 34 35
  • 67.24 (n)
zgc56702 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007704 34
  • 53.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10907 34 35
  • 53.08 (n)
worm
(Caenorhabditis elegans)
Secernentea cyn-16 34
  • 53.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CWC27 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33060 34
  • 54.31 (n)
rice
(Oryza sativa)
Liliopsida Os01g0582400 34
  • 52.26 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.22856 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2858 35
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4732 34
Species where no ortholog for CWC27 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CWC27 Gene

ENSEMBL:
Gene Tree for CWC27 (if available)
TreeFam:
Gene Tree for CWC27 (if available)

Paralogs for CWC27 Gene

Paralogs for CWC27 Gene

(15) SIMAP similar genes for CWC27 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CWC27: view

Variants for CWC27 Gene

Sequence variations from dbSNP and Humsavar for CWC27 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000026321 -- 64,951,232(+) TCAAT(C/T)AATGG intron-variant
rs1000033352 -- 64,999,982(+) TCTGC(A/G)TCCTC intron-variant
rs1000058079 -- 64,953,707(+) TCTTT(-/C)CCCCA intron-variant
rs1000075203 -- 64,862,597(+) CATCT(A/C)ATACC intron-variant
rs1000077612 -- 64,914,485(+) GAGGC(A/G)CTTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CWC27 Gene

Variant ID Type Subtype PubMed ID
esv1006564 CNV deletion 20482838
esv2176429 CNV deletion 18987734
esv2441864 CNV deletion 19546169
esv2567621 CNV deletion 19546169
esv2632537 CNV deletion 19546169
esv2678602 CNV deletion 23128226
esv2730274 CNV deletion 23290073
esv2762525 CNV loss 21179565
esv3566021 CNV deletion 23714750
esv3605290 CNV loss 21293372
esv3605292 CNV loss 21293372
esv5695 CNV loss 19470904
nsv1031566 CNV gain 25217958
nsv1074302 CNV deletion 25765185
nsv1123952 CNV deletion 24896259
nsv330028 CNV deletion 16902084
nsv598390 CNV gain 21841781
nsv950074 CNV duplication 24416366

Variation tolerance for CWC27 Gene

Residual Variation Intolerance Score: 50.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CWC27 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWC27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CWC27 Gene

Disorders for CWC27 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CWC27 Gene - From: ClinVar

Disorder Aliases PubMed IDs
metaphyseal chondrodysplasia with retinitis pigmentosa
  • metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CWC27 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CWC27

Genetic Association Database (GAD)
CWC27
Human Genome Epidemiology (HuGE) Navigator
CWC27
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CWC27
genes like me logo Genes that share disorders with CWC27: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CWC27 Gene

Publications for CWC27 Gene

  1. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan M.J. … Old L.J. (Int. J. Cancer 1998) 2 3 4 64
  2. The evolutionarily conserved core design of the catalytic activation step of the yeast spliceosome. (PMID: 19941820) Fabrizio P. … LA1hrmann R. (Mol. Cell 2009) 2 3 64
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  4. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. (PMID: 28285769) Xu M. … Schorderet D.F. (Am. J. Hum. Genet. 2017) 3 64
  5. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64

Products for CWC27 Gene

  • Addgene plasmids for CWC27

Sources for CWC27 Gene

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