GARS P42A - GET-Evidence

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

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Curation:
Currentness:

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GARS P42A

(GARS Pro42Ala)


You are viewing an old version of this page that was saved on March 5, 2012 at 3:02pm by Genome Importing Robot.

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

  • G @ chr7:30634661: 74.4% (7182/9656) in EVS
  • G @ chr7:30601185: 63.6% (75/118) in GET-Evidence
  • Frequency shown in summary reports: 74.4% (7182/9656)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom G @ chr7:30634661

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom G @ chr7:30634661

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr7:30634661

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom G @ chr7:30634661

 

Added in this revision:

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr7:30634661

 

huBEDA0B

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr7:30634661

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom G @ chr7:30634661

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr7:30601186

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chr7:30601186

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr7:30601186

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr7:30601186

 

GS18501 - var-GS18501-1100-36-ASM
hom G @ chr7:30601186

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr7:30601186

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr7:30601186

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr7:30601186

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr7:30601186

 

GS18555 - var-GS18555-1100-36-ASM
het G @ chr7:30601186

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr7:30601186

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr7:30601186

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr7:30601186

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr7:30601186

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr7:30601186

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr7:30601186

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr7:30601186

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr7:30601186

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr7:30601186

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr7:30601186

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr7:30601186

 

GS19700 - var-GS19700-1100-36-ASM
hom G @ chr7:30601186

 

GS19703 - var-GS19703-1100-36-ASM
het G @ chr7:30601186

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr7:30601186

 

GS19735 - var-GS19735-1100-36-ASM
hom G @ chr7:30601186

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr7:30601186

 

GS20502 - var-GS20502-1100-36-ASM
hom G @ chr7:30601186

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr7:30601186

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr7:30601186

 

Other external references
 

    dbSNP
  • rs1049402
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the GARS gene
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2D/Distal Spinal Muscular At
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GARS
    Web search results (12 hits -- see all)
  • AceView: Gene:GARS, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=GARS
  • ROCK-BCFG (BRCAbase) - Browse - Gene Expression Signatures ...
    ROCK-BCFG (BRCAbase) aims to provide a single online interface for the management, navigation, cross-linking and cross-correlation of data relating to breast cancer ...
    brcabase.icr.ac.uk/browse/view_gexp_signature.jsp?sig_id=47
  • 1 3516 sanPF 1.000 PFD0265w 100% splicing factor ...
    ... 1182214) 2 3350 ensHS 1.000 ENSP00000351750 100% DNCH1 Homo_sapiens.NCBI35.dec. ... ENSG00000197102 transcript:ENST00000358878 Q14204 3 2170 sanPF 1.000 PFI0260c ...
    inparanoid.sbc.su.se/download/old_versions/data_5.0/...
  • PAI Accession Number Proteins 0,018518519 Q9NR96|TLR9_HUMAN ...
    0,052631579 Q96AY3|FKB10_HUMAN FK506-binding protein 10 precursor (EC ... ATP synthase B chain, mitochondrial precursor (EC 3.6.3. 0,044444444 Q6NW34|CC017_HUMAN ...
    biomedcentral.com/.../supplementary/1477-5956-6-27-S1.pdf
  • Supplemental_table2.xls
    Table 2 (Supplemental): Complete data for all 100 recurrent expression programs ... (26S proteasome regulatory subunit S10) (p42A) (Proteasome regulatory ...
    people.csail.mit.edu/georg/GeneTopic/Supplemental_table2.xls
  • Elf3 : Interactions : UCSD-Nature Molecule Pages
    GARS: Glycyl-tRNA synthetase (Glycine--tRNA ligase) (GlyRS) [Homo sapiens] ... subunit 6 (26S proteasome regulatory subunit S10) (p42A) (Proteasome regulatory ...
    signaling-gateway.org/molecule/query?...&adv=latest
  • GPM - Ontology Collection, GO:0005829 cytosol
    MYH9, Myosin-9 (Myosin heavy chain 9)(Myosin heavy chain, non-muscle ... (GARS)(Phosphoribosylglycinamide synthetase): Phosphoribosylformylglycinamidine ...
    gpmdb.thegpm.org/go/GO0005829.html
  • MEG1550
    GART.AIRS;GARS;PAIS;PGFT;PRGS;GARTF;MGC47764.phosphoribosylglycinamide formyltransferase, ... p42A. CG5378. Human. 0.52 (772) FARP2.KIAA0107.KIAA0107 gene product. ...
    cmgm.stanford.edu/~kimlab/.../Neighborhoods/MEG1550p.html
  • Ikbke : Interactions : UCSD-Nature Molecule Pages
    GARS: Glycyl-tRNA synthetase (Glycine--tRNA ligase) (GlyRS) [Homo sapiens] ... subunit 6 (26S proteasome regulatory subunit S10) (p42A) (Proteasome regulatory ...
    signaling-gateway.org/molecule/query?...&adv=latest
  • Détails du Torrent "les sims 2 Double Deluxe avec 7 disques ...
    Torrent 411 - Les Pages Jaunes du Torrent Francais - French Torrent Tracker - Tracker Torrent Fr - L'Académie du Torrent Français
    torrent411.com/torrents/les_sims_2_Double_Deluxe_avec_7_d...

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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