Gene:
CASP1
caspase 1, apoptosis-related cysteine peptidase

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for CASP1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs557905 NC_000011.10:g.105027116T>C, NC_000011.9:g.104897843T>C, NG_029124.1:g.13015A>G, NM_001223.4:c.944-165A>G, NM_001257118.2:c.1007-165A>G, NM_001257119.2:c.944-165A>G, NM_033292.3:c.1007-165A>G, NM_033293.3:c.728-165A>G, NM_033294.3:c.584-165A>G, NM_033295.3:c.59-165A>G, XM_006718924.2:c.1139-165A>G, XM_011543017.1:c.1139-165A>G, XM_011543018.1:c.1076-165A>G, rs17447000, rs386599073, rs57025585
T > C
SNP
rs568910 NC_000011.10:g.105033843A>C, NC_000011.9:g.104904570A>C, NG_029124.1:g.6288T>G, NM_001223.4:c.274+365T>G, NM_001257118.2:c.274+365T>G, NM_001257119.2:c.274+365T>G, NM_033292.3:c.274+365T>G, NM_033293.3:c.58+581T>G, NM_033294.3:c.58+581T>G, NM_033295.3:c.58+581T>G, XM_006718924.2:c.406+365T>G, XM_011543017.1:c.406+365T>G, XM_011543018.1:c.406+365T>G, rs17103561, rs386599431, rs59645688
A > C
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  IL1BC; caspase-1; interleukin 1, beta, convertase
Alternate Symbols:  ICE
PharmGKB Accession Id: PA26083

Details

Cytogenetic Location: chr11 : q22.3 - q22.3
GP mRNA Boundary: chr11 : 104896235 - 104905884
GP Gene Boundary: chr11 : 104893235 - 104915884
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
glucocorticoids

Curated Information ?

Publications related to CASP1: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cells. Nature genetics. 2015. Paugh Steven W, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy. Nature genetics. 2009. Suppiah Vijayaprakash, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed

LinkOuts

NCBI Gene:
834
OMIM:
147678
UCSC Genome Browser:
NM_001223
RefSeq RNA:
NM_001223
NM_033292
NM_033293
NM_033294
NM_033295
RefSeq Protein:
NP_001214
NP_150634
NP_150635
NP_150636
NP_150637
RefSeq DNA:
NT_033899
UniProtKB:
CASP1_HUMAN (P29466)
Ensembl:
ENSG00000137752
GenAtlas:
CASP1
GeneCard:
CASP1
MutDB:
CASP1
ALFRED:
LO243555Y
HuGE:
CASP1
Comparative Toxicogenomics Database:
834
ModBase:
P29466
HumanCyc Gene:
HS06387
HGNC:
1499

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