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<html><p style="font-size:medium;"><b>chr7:55,208,288 C>G<br>Missense_Mutation</b><br><br>
<table>
<tr>
<td>Data from</td>
<td><a href="http://mutationassessor.org/v1/?cm=var&var=hg18,7,55208288,C,G">Mutation Assessor</a></td>
<tr>
<tr>
<td>Type</td>
<td>Missense_Mutation</td>
</tr>
<tr>
<td>RG variant</td>
<td>R>G</td>
</tr>
<tr>
<td>RG var.type</td>
<td>missense</td>
</tr>
<tr>
<td>AA variant</td>
<td>R680G</td>
</tr>
<tr>
<td>Gene</td>
<td>EGFR</td>
</tr>
<tr>
<td>MSA</td>
<td><a href="http://getma.org/v1/?cm=msa&ty=f&p=EGFR_HUMAN&rb=482&re=681&var=R680G">MSA</a></td>
</tr>
<tr>
<td>Func. Impact</td>
<td>
<div style="color:#0033FF"><b>medium</b></div>
</td>
</tr>
<tr>
<td>FI score</td>
<td>3.065</td>
</tr>
<tr>
<td>VC score</td>
<td>3.93</td>
</tr>
<tr>
<td>VS score</td>
<td>2.20</td>
</tr>
<tr>
<td>Location</td>
<td>7p12</td>
</tr>
<tr>
<td>Uniprot</td>
<td><a href="http://www.uniprot.org/uniprot/EGFR_HUMAN">EGFR_HUMAN</a></td>
</tr>
<tr>
<td>Refseq</td>
<td><a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=protein&cmd=search&term=NP_005219">NP_005219</a></td>
</tr>
<tr>
<td>gaps in MSA</td>
<td>0.71</td>
</tr>
<tr>
<td>MSA height</td>
<td>165</td>
</tr>
<tr>
<td>Codon start position</td>
<td>chr7:55208288</td>
</tr>
<tr>
<td>Uniprot position</td>
<td>680</td>
</tr>
<tr>
<td>Uniprot residue</td>
<td>R</td>
</tr>
<tr>
<td>Refseq position</td>
<td>680</td>
</tr>
<tr>
<td>Refseq residue</td>
<td>R</td>
</tr>
<tr>
<td>OG</td>
<td>1</td>
</tr>
<tr>
<td>N.Cosmic</td>
<td>182</td>
</tr>
<tr>
<td>N.SNPs</td>
<td>36</td>
</tr>
<tr>
<td>mutations in COSMIC@position</td>
<td>p.R680G</td>
</tr>
<tr>
<td>cancer types in COSMIC@position</td>
<td>astrocytoma_Grade_IV</td>
</tr>
<tr>
<td>gene's known role in cancer</td>
<td>Cancer Cell Map Pathway :: Alpha6Beta4 Integrin /// Cancer Cell Map Pathway :: EGFR1 /// Cancer Review ::
Futreal et al 2004 /// Cancer Review :: Vogelstein and Kinzler 2004 /// Entrez Query :: Oncogene /// Entrez
Query :: Stability /// Entrez Query :: Tyrosine Kinase
</td>
</tr>
<tr>
<td>regions@position</td>
<td>TOPO_DOM // 669 // 1210 // Cytoplasmic (Potential).</td>
</tr>
<tr>
<td>domains</td>
<td>Furin-like cysteine rich region /// Receptor L domain /// Protein tyrosine kinase</td>
</tr>
</table>
</p><p>----------------------------------</p>Type: Missense_Mutation<br>Hugo_Symbol: EGFR<br>Entrez_Gene_Id: 1956<br>Center:
genome.wustl.edu<br>NCBI_Build: 36<br>Chromosome: 7<br>Start_position: 55208288<br>End_position: 55208288<br>Strand:
+<br>Variant_Classification: Missense_Mutation<br>Variant_Type: SNP<br>Reference_Allele: C<br>Tumor_Seq_Allele1: C<br>Tumor_Seq_Allele2:
G<br>dbSNP_RS: Unknown<br>dbSNP_Val_Status: Unknown<br>Tumor_Sample_Barcode: TCGA-02-0010-01A-01W<br>Matched_Norm_Sample_Barcode:
TCGA-02-0010-10A-01W<br>Match_Norm_Seq_Allele1: C<br>Match_Norm_Seq_Allele2: C<br>Tumor_Validation_Allele1: C<br>Tumor_Validation_Alliele2:
G<br>Match_Norm_Validation_Allele1: C<br>Match_Norm_Validation_Allele2: C<br>Verification_Status: Valid<br>Validation_Status:
Valid<br>Mutation_Status: Somatic<br>Sequencing_Phase: Phase_I
</html>
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