CES1 S76N - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CES1 S76N

(CES1 Ser76Asn)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr16:55862712: 5.0% (540/10758) in EVS
  • T @ chr16:54420212: 5.8% (7/120) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (540/10758)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr16:55862712

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr16:55862712

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr16:55862712

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr16:55862712

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr16:54420213

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr16:54420213

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr16:54420213

 

Other external references
 

    dbSNP
  • rs2307240
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (16 hits -- see all)
  • CES1 Gene - GeneCards | EST1 Protein | EST1 Antibody
    R&D Systems Recombinant & Natural Proteins for CES1 (Carboxylesterase 1/CES1) ... for CES1. R&D Systems Antibodies for CES1 (Carboxylesterase 1/CES1) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=CES1
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Liver carboxylesterase 1 precursor - Homo sapiens (Human)
    CES1. Synonyms: CES2, SES1. Organism. Homo sapiens (Human) [Complete ... duplication of human carboxylesterase 1(CES1) genes, which are difference in ...
    www.uniprot.org/uniprot/P23141
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: CES1 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=CES1&geneid=1066
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: CES1 Variant: NM_001025195 ... CES1. Exons: 14. Mutation List. Back to top. Source ID. AA Position (help? ...
    mutdb.org/cgi-bin/mutdb.pl?id=CES1&geneid=1066&...
  • Entry View
    P82127 Q00015 Q13657 Q14062 Q16737 Q16788 Q549X7 Q549X8 Q86UK2 Q96EE8 Q9UK77 ... of human carboxylesterase 1(CES1) genes, which are difference in regulation at ...
    srs.dna.affrc.go.jp/srs8/srs?-e+[uniprot_swissprot-accnum...
  • HMDB00507.txt
    ... Metabolic_Enzyme_2_Gene_Name: CES1 # Metabolic_Enzyme_2_Protein_Sequence: > ... q22.1 # Metabolic_Enzyme_2_SNPs: rs2307240; rs2307227; rs4513095; rs2307244; ...
    wishart.biology.ualberta.ca/polysearch/.../HMDB00507.txt
  • selnikraj_hapmap_project
    Genetic Variation Analysis of the Cancer Drug Gene Targets Using Hap map Resources By SeLnIkrajAny queries mail me = selnikraj@yahoo.com http://www.selnikraj.110mb. ...
    www.docstoc.com/docs/4103696/selnikraj_hapmap_project
  • HMDB00507.txt
    ... Metabolic_Enzyme_2_Gene_Name: CES1 # Metabolic_Enzyme_2_Protein_Sequence: >Liver ... rs2307240; rs2307227; rs4513095; rs2307244; rs2397780; rs9921399; rs1814268; ...
    wks16338.biology.ualberta.ca/~dean/polyomx/.../HMDB00507.txt
  • omega data
    ... A2M ENSG00000175899 ENST00000318602 4.6672 p>0.05 2.247 rs226405 12 9139500 ... A2M ENSG00000175899 ENST00000318602 0.0000 p>0.05 0.128 rs34470791 17 ...
    bioinfo.cipf.es/francisco/project/replicabilty/...

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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