open_targets.evidence_eva_somatic
import bedrock_bio as bb
rel = bb.load_table('open_targets.evidence_eva_somatic')
df = rel.limit(5).pl() # Polars
df = rel.limit(5).df() # Pandas
df.head()| targetId | id | targetFromSourceId | diseaseFromSourceMappedId | alleleOrigins | allelicRequirements | clinicalSignificances | cohortPhenotypes | confidence | datasourceId | ... | variantId | variantRsId | qualityControls | diseaseId | publicationDate | evidenceDate | score | directionOnTrait | directionOnTarget | version | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 | ENSG00000112038 | 095fd1e3faf52f440389b85a677b49eb0d9758e9 | ENSG00000112038 | EFO_0022041 | [somatic] | <NA> | [drug response] | [Tramadol response, Ultram response] | no assertion criteria provided | eva_somatic | ... | 6_154087846_GT_G | rs1583463133 | [] | EFO_0022041 | None | 2020-03-29 | 0.90 | NaN | None | 26.09 |
| 1 | ENSG00000121879 | 336f95de3cfd9eebaccef7dac7e16ed70e22fed3 | ENSG00000121879 | MONDO_0008170 | [somatic] | <NA> | [pathogenic] | [Neoplasm of ovary, Ovarian Neoplasms, Ovarian... | no assertion criteria provided | eva_somatic | ... | 3_179204536_G_A | rs1064793732 | [] | MONDO_0008170 | None | 2019-06-17 | 0.90 | risk | None | 26.09 |
| 2 | ENSG00000105976 | 0f30b8b5d34dcb14e18cdfab05fbcf88b62b1afe | ENSG00000105976 | MONDO_0005072 | [somatic] | [Somatic mutation] | [other] | [Neuroblastoma] | no assertion criteria provided | eva_somatic | ... | 7_116700069_C_A | rs1554378983 | [] | MONDO_0005072 | None | 2017-09-26 | 0.30 | NaN | None | 26.09 |
| 3 | ENSG00000122008 | 40c46617d726124828b8f916aafc81dd0a6ccb24 | ENSG00000122008 | MONDO_0008315 | [somatic] | <NA> | [pathogenic] | [Malignant tumor of prostate, Prostate cancer] | criteria provided, single submitter | eva_somatic | ... | 5_75596885_T_A | rs863225456 | [] | MONDO_0008315 | None | 2015-05-23 | 0.92 | risk | None | 26.09 |
| 4 | ENSG00000159184 | 45d473803cfb442fe2c35ad67e0ea5cb7a646b2c | ENSG00000159184 | Orphanet_1331 | [somatic] | <NA> | [uncertain significance] | [Prostate cancer, hereditary, 1] | no assertion criteria provided | eva_somatic | ... | 17_48728662_C_A | rs1597935698 | [] | Orphanet_1331 | None | 2019-11-21 | 0.30 | NaN | None | 26.09 |
library(bedrockbio)
lf <- load_table("open_targets.evidence_eva_somatic")
df <- head(lf, 5) |> collect()
head(df)Sample output (5 rows, showing 8 of 29 columns) targetId | id | targetFromSourceId | diseaseFromSourceMappedId | confidence | datasourceId | datatypeId | diseaseFromSource --------------- | ------------------------ | ------------------ | ------------------------- | ------------------------ | ------------ | ---------------- | ------------------------ 0 ENSG00000112038 | 095fd1e3faf52f440389b85… | ENSG00000112038 | EFO_0022041 | no assertion criteria p… | eva_somatic | somatic_mutation | Tramadol response 1 ENSG00000121879 | 336f95de3cfd9eebaccef7d… | ENSG00000121879 | MONDO_0008170 | no assertion criteria p… | eva_somatic | somatic_mutation | Ovarian neoplasm 2 ENSG00000105976 | 0f30b8b5d34dcb14e18cdfa… | ENSG00000105976 | MONDO_0005072 | no assertion criteria p… | eva_somatic | somatic_mutation | Neuroblastoma 3 ENSG00000122008 | 40c46617d726124828b8f91… | ENSG00000122008 | MONDO_0008315 | criteria provided, sing… | eva_somatic | somatic_mutation | Prostate cancer 4 ENSG00000159184 | 45d473803cfb442fe2c35ad… | ENSG00000159184 | Orphanet_1331 | no assertion criteria p… | eva_somatic | somatic_mutation | Prostate cancer, heredi…
Description
Section titled “Description”Disease-target evidence based on somatic variation from ClinVar, provided by the European Variation Archive [Target-Disease]
Partitions
Section titled “Partitions”Not partitioned.
Schema
Section titled “Schema”| Column | Type | Description |
|---|---|---|
targetId |
TEXT |
Open Targets target identifier |
id |
TEXT |
Identifer of the disease/target evidence |
targetFromSourceId |
TEXT |
Target ID in resource of origin (accepted sources include Ensembl gene ID, Uniprot ID, gene symbol), only capital letters are accepted |
diseaseFromSourceMappedId |
TEXT |
Mapped Open Targets disease identifier |
alleleOrigins |
TEXT[] |
Origin of the variant allele |
allelicRequirements |
TEXT[] |
Inheritance patterns |
clinicalSignificances |
TEXT[] |
Standard terms to define clinical significance |
cohortPhenotypes |
TEXT[] |
Clinical features/phenotypes observed in studied individuals |
confidence |
TEXT |
Confidence qualifier on the reported evidence |
datasourceId |
TEXT |
Identifer of the evidence source |
datatypeId |
TEXT |
Type of the evidence |
diseaseFromSource |
TEXT |
Disease label from the original source |
diseaseFromSourceId |
TEXT |
Disease identifier from the original source |
literature |
TEXT[] |
List of PubMed or preprint reference identifiers |
releaseDate |
TEXT |
Date of the release of the data in a ‘YYYY-MM-DD’ format |
studyId |
TEXT |
Identifier of the study generating the data |
variantFromSourceId |
TEXT |
Identifier of the disease-causing variant at source |
variantFunctionalConsequenceId |
TEXT |
Sequence ontology (SO) identifier of the functional consequence of the variant [bioregistry:so] |
variantHgvsId |
TEXT |
Identifier in HGVS notation of the disease-causing variant |
variantId |
TEXT |
Identifier in CHROM_POS_REF_ALT notation of the disease-causing variant |
variantRsId |
TEXT |
Variant reference SNP cluster ID (Rsid) |
qualityControls |
TEXT[] |
Evidence quality flags |
diseaseId |
TEXT |
Open Targets disease identifier |
publicationDate |
TEXT |
Date of the earliest publication supporting the evidence |
evidenceDate |
TEXT |
Earliest data for the evidence |
score |
DOUBLE |
Score of the evidence reflecting the strength of the disease/target relationship |
directionOnTrait |
TEXT |
Predicted direction of effect on the trait |
directionOnTarget |
TEXT |
Effect of direction on target |
version |
TEXT |
Open Targets Platform release version (major.minor), e.g. 26.09. Added during ingest. |