isolate
tissue
age
56
biomaterial_provider
Kim Km
sex
male
tissue
colon
locus
chr17:7578475
genotype
G/T
filter
PASS
ref
G
observed_allele
A,C,T
type
SNV
genes
TP53
location
TP53:exonic:NM_000546.5
length
1
oncomine_variant_class
Hotspot
oncomine_gene_class
Loss-of-function
info
HS
variant_id
COSM10790;COSM45505;COSM44613
%_frequency
A=0.00, C=0.00, T=81.84
amino_acid_change
p.Pro152Gln
coverage
1982
allele_ratio
G=0.1816, A=0.0, C=0.0, T=0.8184
detection
Present
strand
-
exon
5
transcript
NM_000546.5
coding
c.455C>A
variant_effect
missense
phylop
7.91
sift
0.0
grantham
76.0
polyphen
1.0
fathmm
0.99(COSM10790),0.99(COSM129856),0.99(COSM129857),0.99(COSM129858),0.99(COSM129859),0.99(COSM1645282),0.99(COSM3717667),0.99(COSM3970373),0.99(COSM3970374),0.99(COSM3970375),0.99(COSM3970376),0.99(COSM3970377),0.99(COSM3970378),0.99(COSM44613),0.99(COSM45505)
pfam
P53 DNA-binding domain,P53 tetramerisation motif
dbsnp
rs1064792930,rs137852790,rs137852791,rs587782393,rs587782705,rs876659215
exac_laf
0.0 (pos.7578475)
exac_eaaf
0.0 (pos.7578475)
exac_oaf
0.0 (pos.7578475)
exac_efaf
1.531E-4 (pos.7578475)
exac_saaf
0.0 (pos.7578475)
exac_enfaf
4.503E-5 (pos.7578475)
exac_aaf
0.0 (pos.7578475)
exac_gaf
3.301E-5 (pos.7578475)
cosmic
acute_lymphoblastic_B_cell_leukaemia,acute_myeloid_leukaemia,adenocarcinoma,adrenal_cortical_adenoma,adrenal_cortical_carcinoma,adult_T_cell_lymphoma-leukaemia,angiosarcoma,astrocytoma_Grade_III,astrocytoma_Grade_IV,carcinoma,chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma,diffuse_large_B_cell_lymphoma,ductal_carcinoma,glioma,hepatocellular_carcinoma,intestinal_adenocarcinoma,leiomyosarcoma,malignant_melanoma,neoplasm,oligoastrocytoma,primitive_neuroectodermal_tumour-medulloblastoma,squamous_cell_carcinoma,transitional_cell_carcinoma
omim
Tumor protein p53
gene_ontology
ATP binding,DNA binding,DNA binding transcription factor activity,DNA damage response, signal transduction by p53 class mediator,DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest,DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator,DNA strand renaturation,ER overload response,PML body,RNA polymerase II regulatory region sequence-specific DNA binding,RNA polymerase II transcription factor activity, sequence-specific DNA binding,RNA polymerase II transcription factor binding,Ras protein signal transduction,apoptotic process,autophagy,base-excision repair,cell aging,cell cycle,cell cycle arrest,cell differentiation,cell proliferation,cellular protein localization,cellular response to DNA damage stimulus,cellular response to UV,cellular response to actinomycin D,cellular response to drug,cellular response to gamma radiation,cellular response to glucose starvation,cellular response to hypoxia,cellular response to ionizing radiation,chaperone binding,chromatin assembly,chromatin binding,circadian behavior,copper ion binding,core promoter sequence-specific DNA binding,cytoplasm,cytosol,damaged DNA binding,determination of adult lifespan,disordered domain specific binding,endoplasmic reticulum,entrainment of circadian clock by photoperiod,enzyme binding,histone acetyltransferase binding,histone deacetylase binding,identical protein binding,integral component of membrane,intracellular,intrinsic apoptotic signaling pathway,intrinsic apoptotic signaling pathway by p53 class mediator,intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator,mRNA 3'-UTR binding,mRNA transcription,metal ion binding,mitochondrial matrix,mitochondrion,mitotic G1 DNA damage checkpoint,multicellular organism development,negative regulation of apoptotic process,negative regulation of cell growth,negative regulation of cell proliferation,negative regulation of fibroblast proliferation,negative regulation of helicase activity,negative regulation of telomerase activity,negative regulation of transcription from RNA polymerase II promoter,negative regulation of transcription, DNA-templated,nuclear body,nuclear chromatin,nuclear matrix,nucleolus,nucleoplasm,nucleotide-excision repair,nucleus,oligodendrocyte apoptotic process,oxidative stress-induced premature senescence,p53 binding,positive regulation of apoptotic process,positive regulation of cell cycle arrest,positive regulation of execution phase of apoptosis,positive regulation of gene expression,positive regulation of histone deacetylation,positive regulation of intrinsic apoptotic signaling pathway,positive regulation of neuron apoptotic process,positive regulation of peptidyl-tyrosine phosphorylation,positive regulation of pri-miRNA transcription from RNA polymerase II promoter,positive regulation of protein export from nucleus,positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway,positive regulation of protein oligomerization,positive regulation of reactive oxygen species metabolic process,positive regulation of release of cytochrome c from mitochondria,positive regulation of thymocyte apoptotic process,positive regulation of transcription from RNA polymerase II promoter,positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress,positive regulation of transcription, DNA-templated,protease binding,proteasome-mediated ubiquitin-dependent protein catabolic process,protein N-terminus binding,protein binding,protein complex,protein complex assembly,protein deubiquitination,protein heterodimerization activity,protein homotetramerization,protein kinase binding,protein localization,protein phosphatase 2A binding,protein phosphatase binding,protein self-association,protein tetramerization,receptor tyrosine kinase binding,regulation of apoptotic process,regulation of cell cycle G2/M phase transition,regulation of mitochondrial membrane permeability,regulation of signal transduction by p53 class mediator,regulation of transcription, DNA-templated,replication fork,replicative senescence,response to X-ray,response to antibiotic,response to gamma radiation,signal transduction by p53 class mediator,transcription factor TFIID complex,transcription factor activity, core RNA polymerase binding,transcription factor binding,transcription from RNA polymerase II promoter,transcription regulatory region DNA binding,transcription, DNA-templated,transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding,ubiquitin protein ligase binding,viral process,zinc ion binding
drugbank
1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine,AZD 3355,Acetylsalicylic acid
p_value
0.00001
phred_qual_score
20666.3
allele_coverage
G=360, A=0, C=0, T=1622
ref+/ref_/var+/var_
G=151/209, A=0/0, C=0/0, T=694/928
homopolymer_length
5,5,5
BioSampleModel
Human