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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
  • Peptidyl-Prolyl Cis-Trans Isomerase SDCCAG10 3
  • CWC27 Spliceosome-Associated Protein Homolog 2
  • PPIase SDCCAG10 3
  • EC 5.2.1.8 4
  • SDCCAG-10 3
  • NY-CO-10 3
  • RPSKA 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 Retinitis Pigmentosa With Or Without Skeletal Anomalies and Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (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.

Additional gene information for CWC27 Gene

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

GeneHancer (GH) Regulatory Elements for CWC27 Gene

Promoters and enhancers for CWC27 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
GH05J064765 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.7 -1.2 -1160 4.5 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 SREK1IP1 CWC27 PPWD1 TRAPPC13 SHISAL2B
GH05J064869 Enhancer 0.7 Ensembl ENCODE 11.7 +100.8 100828 0.9 JUND PRDM6 FOSL2 FOS NFE2 CWC27 GC05P064860 GC05P064901
GH05J064791 Enhancer 0.4 ENCODE 15.4 +24.2 24213 3 FOXA2 ZNF629 MYNN CWC27 SREK1IP1 GC05P064823
GH05J064939 Enhancer 1.1 Ensembl ENCODE 4.6 +171.0 170969 1 ELF3 FOXA2 MZF1 KLF14 ZNF2 THRB ZNF48 RARA ZNF335 ZNF614 CWC27 GC05M064911 GC05P064979
GH05J064836 Enhancer 0.2 FANTOM5 11.6 +68.1 68113 0.3 CWC27 GC05P064823 GC05P064860
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CWC27 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CWC27 Gene

Genomic Locations for CWC27 Gene
chr5:64,768,918-65,018,763
(GRCh38/hg38)
Size:
249,846 bases
Orientation:
Plus strand
chr5:64,064,755-64,314,590
(GRCh37/hg19)
Size:
249,836 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 posLast=201201 and posLast=109109
  • 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

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

Enzyme Numbers (IUBMB) for CWC27 Gene

Phenotypes From GWAS Catalog 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 IBA,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

Human Phenotype Ontology for CWC27 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CWC27 Gene

MGI Knock Outs for CWC27:

Animal Model Products

  • Taconic Biosciences Mouse Models for CWC27

miRNA for CWC27 Gene

Clone Products

  • Addgene plasmids for CWC27

No data available for 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CWC27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA --
GO:0005654 nucleoplasm IDA,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:

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, 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

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 33
  • 99.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CWC27 34 33
  • 93.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CWC27 34 33
  • 92.57 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cwc27 16 34 33
  • 86.47 (n)
rat
(Rattus norvegicus)
Mammalia Cwc27 33
  • 86.08 (n)
oppossum
(Monodelphis domestica)
Mammalia CWC27 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
ManyToMany
chicken
(Gallus gallus)
Aves CWC27 34 33
  • 77.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CWC27 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cwc27 33
  • 71.62 (n)
Str.8713 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13268 33
zebrafish
(Danio rerio)
Actinopterygii cwc27 34 33
  • 67.24 (n)
OneToOne
zgc56702 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007704 33
  • 53.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10907 34 33
  • 53.08 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cyn-16 33
  • 53.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CWC27 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G33060 33
  • 54.31 (n)
rice
(Oryza sativa)
Liliopsida Os01g0582400 33
  • 52.26 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.22856 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2858 34
  • 53 (a)
OneToOne
Cin.4732 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4732 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for CWC27: view image

Paralogs for CWC27 Gene

Paralogs for CWC27 Gene

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

  • CWC27_HUMAN
  • D6REK3_HUMAN
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 Variation AA Info Type
rs1085307446 pathogenic, Retinitis pigmentosa with or without skeletal anomalies 64,785,579(+) G/A coding_sequence_variant, synonymous_variant
rs1085307447 pathogenic, Retinitis pigmentosa with or without skeletal anomalies 64,885,447(+) G/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained
rs752159903 pathogenic, Retinitis pigmentosa with or without skeletal anomalies 64,885,499(+) AAAAAAAA/AAAAAAA/AAAAAAAAA coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs781702398 pathogenic, Retinitis pigmentosa with or without skeletal anomalies 64,788,968(+) C/A coding_sequence_variant, stop_gained
rs1000026321 -- 64,951,232(+) T/C genic_downstream_transcript_variant, 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)

Additional Variant Information for CWC27 Gene

Human Gene Mutation Database (HGMD)
CWC27
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CWC27

SNP Genotyping and Copy Number Assay Products

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

Disorders for CWC27 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CWC27 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa with or without skeletal anomalies
  • rpska
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search CWC27 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CWC27_HUMAN
  • Retinitis pigmentosa with or without skeletal anomalies (RPSKA) [MIM:250410]: An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. {ECO:0000269 PubMed:28285769}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CWC27

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

No data available for Genatlas for CWC27 Gene

Publications for CWC27 Gene

  1. Characterization of human colon cancer antigens recognized by autologous antibodies. (PMID: 9610721) Scanlan MJ … Old LJ (International journal of cancer 1998) 2 3 4 58
  2. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. (PMID: 28285769) Xu M … Schorderet DF (American journal of human genetics 2017) 3 4 58
  3. The evolutionarily conserved core design of the catalytic activation step of the yeast spliceosome. (PMID: 19941820) Fabrizio P … Lührmann R (Molecular cell 2009) 2 3 58
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CWC27 Gene

Sources for CWC27 Gene

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