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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

Enhancers for WBSCR27 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
GH07F073821 1.6 FANTOM5 Ensembl ENCODE 87.3 +19.6 19552 3.1 HDGF ATF1 PKNOX1 SIN3A GLIS2 ELK1 GATA2 FOS KLF13 SP5 WBSCR27 VPS37D ABHD11-AS1 CLDN4 CLDN3 GC07P073835
GH07F073849 1.6 FANTOM5 Ensembl ENCODE 77.6 -8.4 -8417 3.9 PKNOX1 ARNT SIN3A FEZF1 FOS DEK ZNF263 SP3 JUNB TBX21 WBSCR27 WBSCR22 ELN DNAJC30 VPS37D POM121B MIR590 BCL7B GC07M073847 WBSCR28
GH07F073825 1.1 ENCODE 90.6 +12.6 12599 8.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF207 FOS SP3 WBSCR27 WBSCR28 DNAJC30 WBSCR22 VPS37D ABHD11-AS1 ABHD11 GC07P073835 CLDN4
GH07F073736 1.8 FANTOM5 Ensembl ENCODE 53.9 +101.8 101811 7.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 WBSCR27 ABHD11-AS1 SPDYE7P WBSCR22 FKBP6 LOC100101148 POM121B MIR590 ABHD11 CLDN4
GH07F073841 0.9 ENCODE 90.4 +0.3 286 1.8 TBP PKNOX1 ARID4B DMAP1 ZNF48 GATA4 EGR1 SCRT2 FOS EGR2 WBSCR27 VPS37D ABHD11 GC07P073835
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around WBSCR27 on UCSC Golden Path with GeneCards custom track

Promoters for WBSCR27 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158021 35 1401 TBP PKNOX1 ARID4B DMAP1 ZNF48 RAD21 GATA4 EGR1 SCRT2 FOS

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

Post-translational modifications for WBSCR27 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WBSCR27 Gene

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

Gene Ontology (GO) - Molecular Function for WBSCR27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25814554
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity IBA --
genes like me logo Genes that share ontologies with WBSCR27: view

Phenotypes for WBSCR27 Gene

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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for WBSCR27 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 WBSCR27 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for WBSCR27 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with WBSCR27: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0032259 methylation IBA --
genes like me logo Genes that share ontologies with WBSCR27: view

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

Transcripts for WBSCR27 Gene

mRNA/cDNA for WBSCR27 Gene

(3) 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for WBSCR27 Gene

NURSA nuclear receptor signaling pathways regulating expression of WBSCR27 Gene:

WBSCR27

SOURCE GeneReport for Unigene cluster for WBSCR27 Gene:

Hs.647042
genes like me logo Genes that share expression patterns with WBSCR27: view

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 34 35
  • 98.07 (n)
cow
(Bos Taurus)
Mammalia WBSCR27 34 35
  • 86.6 (n)
dog
(Canis familiaris)
Mammalia WBSCR27 34 35
  • 84.85 (n)
mouse
(Mus musculus)
Mammalia Wbscr27 34 16 35
  • 80.13 (n)
rat
(Rattus norvegicus)
Mammalia Wbscr27 34
  • 80.13 (n)
oppossum
(Monodelphis domestica)
Mammalia WBSCR27 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WBSCR27 35
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves WBSCR27 34 35
  • 64.58 (n)
lizard
(Anolis carolinensis)
Reptilia WBSCR27 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr27 34
  • 54.59 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr27 34 35
  • 52.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
-- 35
  • 22 (a)
OneToMany
-- 35
  • 20 (a)
OneToMany
Species where no ortholog for WBSCR27 was found in the sources mined by GeneCards:
  • 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
rs10225983 -- 73,844,420(+) gtctc(A/G)tgtct upstream-variant-2KB
rs10233067 -- 73,842,590(+) ATTGG(C/T)TTTCC upstream-variant-2KB
rs10233171 -- 73,842,637(+) CAGTC(C/T)GCCCG upstream-variant-2KB
rs10252756 -- 73,838,940(+) GGTGC(A/G)CCCCA intron-variant, nc-transcript-variant
rs10276377 -- 73,842,508(+) CGCCT(C/G)GGGCG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv831029 CNV loss 17160897

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. 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 4 64
  3. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3 64
  4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 64
  5. 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 64

Products for WBSCR27 Gene

Sources for WBSCR27 Gene

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