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Aliases for WBSCR27 Gene

Aliases for WBSCR27 Gene

  • Williams Beuren Syndrome Chromosome Region 27 2 3 5

External Ids for WBSCR27 Gene

Previous GeneCards Identifiers for WBSCR27 Gene

  • GC07M071890
  • GC07M072647
  • GC07M072661
  • GC00U917011
  • GC07M072693
  • GC07M072886
  • GC07M073248
  • GC07M069132

Summaries for WBSCR27 Gene

Entrez Gene Summary for WBSCR27 Gene

  • This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]

GeneCards Summary for WBSCR27 Gene

WBSCR27 (Williams Beuren Syndrome Chromosome Region 27) is a Protein Coding gene. Diseases associated with WBSCR27 include williams-beuren syndrome. GO annotations related to this gene include methyltransferase activity.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WBSCR27 Gene

Genomics for WBSCR27 Gene

Regulatory Elements for WBSCR27 Gene

Promoters for WBSCR27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WBSCR27 on UCSC Golden Path with GeneCards custom track

Genomic Location for WBSCR27 Gene

Chromosome:
7
Start:
73,834,590 bp from pter
End:
73,842,535 bp from pter
Size:
7,946 bases
Orientation:
Minus strand

Genomic View for WBSCR27 Gene

Genes around WBSCR27 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WBSCR27 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WBSCR27 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WBSCR27 Gene

Proteins for WBSCR27 Gene

  • Protein details for WBSCR27 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6F8-WBS27_HUMAN
    Recommended name:
    Williams-Beuren syndrome chromosomal region 27 protein
    Protein Accession:
    Q8N6F8

    Protein attributes for WBSCR27 Gene

    Size:
    245 amino acids
    Molecular mass:
    26522 Da
    Quaternary structure:
    No Data Available

neXtProt entry for WBSCR27 Gene

Proteomics data for WBSCR27 Gene at MOPED

Post-translational modifications for WBSCR27 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WBSCR27 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for WBSCR27 Gene

Domains & Families for WBSCR27 Gene

Protein Domains for WBSCR27 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WBSCR27: view

No data available for Gene Families and UniProtKB/Swiss-Prot for WBSCR27 Gene

Function for WBSCR27 Gene

Phenotypes for WBSCR27 Gene

GenomeRNAi human phenotypes for WBSCR27:
genes like me logo Genes that share phenotypes with WBSCR27: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for WBSCR27 Gene

Localization for WBSCR27 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WBSCR27 Gene COMPARTMENTS Subcellular localization image for WBSCR27 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for WBSCR27 Gene

Pathways & Interactions for WBSCR27 Gene

SuperPathways for WBSCR27 Gene

No Data Available

Interacting Proteins for WBSCR27 Gene

Gene Ontology (GO) - Biological Process for WBSCR27 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for WBSCR27 Gene

Drugs & Compounds for WBSCR27 Gene

No Compound Related Data Available

Transcripts for WBSCR27 Gene

mRNA/cDNA for WBSCR27 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for WBSCR27 Gene

Williams Beuren syndrome chromosome region 27:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for WBSCR27 Gene

No ASD Table

Relevant External Links for WBSCR27 Gene

GeneLoc Exon Structure for
WBSCR27
ECgene alternative splicing isoforms for
WBSCR27

Expression for WBSCR27 Gene

mRNA expression in normal human tissues for WBSCR27 Gene

Protein differential expression in normal tissues from HIPED for WBSCR27 Gene

This gene is overexpressed in Prostate (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for WBSCR27 Gene



SOURCE GeneReport for Unigene cluster for WBSCR27 Gene Hs.647042

genes like me logo Genes that share expression patterns with WBSCR27: view

Protein tissue co-expression partners for WBSCR27 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for WBSCR27 Gene

Orthologs for WBSCR27 Gene

This gene was present in the common ancestor of chordates.

Orthologs for WBSCR27 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR27 35
  • 98.07 (n)
  • 95.44 (a)
WBSCR27 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WBSCR27 36
  • 64 (a)
OneToOne
WBSCR27 35
  • 86.6 (n)
  • 81.73 (a)
dog
(Canis familiaris)
Mammalia WBSCR27 35
  • 84.85 (n)
  • 80.5 (a)
WBSCR27 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wbscr27 16
Wbscr27 35
  • 80.13 (n)
  • 76.85 (a)
Wbscr27 36
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WBSCR27 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR27 36
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wbscr27 35
  • 80.13 (n)
  • 78.82 (a)
chicken
(Gallus gallus)
Aves WBSCR27 35
  • 64.58 (n)
  • 56.77 (a)
WBSCR27 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WBSCR27 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr27 35
  • 54.59 (n)
  • 55.1 (a)
zebrafish
(Danio rerio)
Actinopterygii wbscr27 36
  • 39 (a)
OneToOne
wbscr27 35
  • 52.83 (n)
  • 46 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
-- 36
  • 29 (a)
OneToMany
-- 36
  • 20 (a)
OneToMany
Species with no ortholog for WBSCR27:
  • A. gosspyii yeast (Ashbya 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 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 WBSCR27 Gene

ENSEMBL:
Gene Tree for WBSCR27 (if available)
TreeFam:
Gene Tree for WBSCR27 (if available)

Paralogs for WBSCR27 Gene

No data available for Paralogs for WBSCR27 Gene

Variants for WBSCR27 Gene

Sequence variations from dbSNP and Humsavar for WBSCR27 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs13241921 - 73,840,482(+) GGGCC(C/T)GGGCC reference, missense
rs13232463 - 73,834,969(+) TGGAC(C/G)AGTTG reference, missense
rs1989670 -- 73,837,589(+) gaccc(A/T)gtctt intron-variant
rs3845201 -- 73,837,045(-) tgcac(C/T)gccct intron-variant
rs4304218 -- 73,838,650(+) CACAG(A/G)TTGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for WBSCR27 Gene

Variant ID Type Subtype PubMed ID
nsv831029 CNV Loss 17160897
nsv888372 CNV Loss 21882294

Variation tolerance for WBSCR27 Gene

Residual Variation Intolerance Score: 94.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WBSCR27 Gene

HapMap Linkage Disequilibrium report
WBSCR27

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WBSCR27 Gene

Disorders for WBSCR27 Gene

MalaCards: The human disease database

(1) MalaCards diseases for WBSCR27 Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

WBS27_HUMAN
  • Note=WBSCR27 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR27 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000269 Ref.1}.

Relevant External Links for WBSCR27

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WBSCR27
genes like me logo Genes that share disorders with WBSCR27: view

No data available for Genatlas for WBSCR27 Gene

Publications for WBSCR27 Gene

  1. Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase. (PMID: 18398435) Micale L. … Reymond A. (Eur. J. Hum. Genet. 2008) 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3
  4. Identification of nine human-specific frameshift mutations by comparative analysis of the human and the chimpanzee genome sequences. (PMID: 15961456) Hahn Y. … Lee B. (Bioinformatics 2005) 3
  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

Products for WBSCR27 Gene

Sources for WBSCR27 Gene

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