Allele descriptive
| | | |
Gene
|
Gene ID
|
Internal ID
|
G0002V5Z
|
|
Gene name
|
HGNC gene symbols
|
KRAS
|
|
Chromosome
|
1.. 22, X, Y
|
12
|
|
Entrez gene ID
|
Entrez gene IDs
|
3845
|
|
Ensembl gene ID
|
Ensembl gene IDs
|
ENSG00000133703
|
|
RefSeq gene ID
|
RefSeq gene IDs
|
NG_007524
|
Gene transript
|
Gene ID
|
Internal ID
|
G0002V5Z
|
|
Gene transcript ID
|
Internal ID
|
T0006OOW
|
|
RefSeq transcript ID
|
RefSeq Transcript IDs
|
NM_033360
|
|
RefSeq protein ID
|
RefSeq protein IDs
|
NP_203524
|
|
Ensemble transcript ID
|
Ensemble transcript IDs
|
ENST00000256078
|
|
UniProt ID
|
UniProt IDs
|
P01116
|
Gene position
|
Gene ID
|
Internal ID
|
G0002V5Z
|
|
Genome version
|
Genome build IDs
|
GRCh37.p13
|
|
DNA position
|
Genomic coordinate
|
12p12.1
|
Gene pathway
|
Gene ID
|
Internal ID
|
G0002V5Z
|
|
Pathway ID
|
Internal ID
|
P003V724
|
Gene pathway
|
Pathway ID
|
Internal ID
|
P003V724
|
|
Common name
|
Activation of RAS in B cells
| |
|
Kegg ID
|
Kegg IDs
|
map04014
|
|
Reactome ID
|
Reactome IDs
|
R-HSA-1169092
|
|
PathwayCommons ID
|
PathwayCommons IDs
|
R-HSA-1169092
|
Allele interpretive
| | | |
Variant
|
Variant ID
|
Internal ID
|
V0000LBB
|
|
Variant type
|
“Single nucleotide variant (SNV)”, “multinucleotide variant (MNV)”, “insertion (INS)”, “deletion (DEL)”
|
SNV
|
Variant position
|
Variant ID
|
Internal ID
|
V0000LBB
|
|
Genome version
|
Genome build IDs
|
GRCh37.p13
|
|
DNA sub. & position
|
HGVS genomic coordinate
|
NC_000012.11:g.25398284C >G
|
Gene variant
|
Gene ID
|
Internal ID
|
G0002V5Z
|
|
Variant ID
|
Internal ID
|
V0000LBB
|
|
Variant consequence
|
“Non-sense”, “missense”, “silent”, “frame shift”, “in-frame”, “3UTR”, “5UTR”, “splice”, “splice-region”, “intronic”, “upstream”, “downstream”
|
missense
|
Gene variant transcript
|
Gene ID
|
Internal ID
|
G0002V5Z
|
|
Variant ID
|
Internal ID
|
V0000LBB
|
|
Gene transcript ID
|
Internal ID
|
T0006OOW
|
|
Protein sub. & Position
|
HGVS formatted variants
|
NM_033360.3(KRAS):c.35G >C (p.Gly12Ala)
|
|
Protein domain
|
Descriptive name of protein domain
|
Small GTP-binding protein domain
|
|
Variant consequence
|
“Expression”, “amplification”, “deletion”, “fusion”, “loss of function”, “missense”
|
missense
|
|
Risk score
|
FATHMM, SIFT, PolyPhen
|
0.98468, 0, 0.97
|
Somatic interpretive
| | | |
Cancer type
|
Cancer type ID
|
Internal ID
|
C000WQFL
|
|
Cancer type name
|
NCI thesaurus | Oncotree IDs
|
Colorectal cancer
|
|
UMLS ID
|
UMLS concept IDs
|
C1527249
|
|
HPO ID
|
HPO concept IDs
|
HP:0003003
|
Cancer variant
|
Cancer variant ID
|
Internal ID
|
CV00XBQW
|
|
Variant ID
|
Internal ID
|
V0000LBB
|
|
Cancer type ID
|
Internal ID
|
C000WQFL
|
|
Biomarker class
|
“Diagnostic”, “prognostic”, “predictive”, “predisposing”, “pharmacogenomic”
|
predictive
|
|
Clinical relevance level()
|
“Tier 1”, “Tier 2”, “Tier 3” [8]
|
Tier 2
|
Cancer variant sample
|
Cancer variant ID
|
Internal ID
|
CV00XBQW
|
|
Sample ID
|
Internal ID
|
SXBQW0A7
|
|
Somatic classification
|
“Confirmed somatic”, “confirmed germline”, “unknown”
|
somatic
|
|
Allele frequency
|
Allele frequency in global population
|
0.00001647
|
Sample specimen
|
Sample ID
|
Internal ID
|
SXBQW0A7
|
|
Tumor purity
|
Ratio
|
0.763
|
|
TNM status
|
TNM values
|
T2N1M1
|
|
Primary / relapse
|
Primary || relapse
|
primary
|
Cancer variant drug
|
Cancer variant ID
|
Internal ID
|
CV00XBQW
|
|
Drug ID
|
Internal ID
|
D00000Z9
|
Cancer variant drug effect
|
Cancer variant ID
|
Internal ID
|
CV00XBQW
|
|
Drug ID
|
Internal ID
|
D00000Z9
|
|
Effect
|
“Resistant”, “responsive”, “non-responsive”, “sensitive”, “reduced sensitivity”, “other”
|
Resistance or non-response
|
|
Level of evidence
|
see Table 6
|
C
|
|
Sublevel of evidence
|
see Table 6
|
3A
|
Drug
|
Drug ID
|
Internal ID
|
D00000Z9
|
|
Substance name
|
FDA approved | DrugBank substance names
|
Panitumumab
|
|
DrugBank ID
|
DrugBank IDs
|
DB01269
|
|
PharmGKB ID
|
PharmGKB IDs
|
PA162373091
|
|
FDA ID
|
FDA IDs
|
125147
|
Drug mechanism
|
Drug ID
|
Internal ID
|
D00000Z9
|
|
Molecular mechanism
|
Description
|
Binds to the epidermal growth factor receptor (EGFR) on both normal and tumor cells[...]
|