Regulator

Summary of regulator annotations and link-out to annotation databases

Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.

PAX1 - paired box 1

Function

This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity).

Uniprot Browser
Entrez IDEnsEMBL IDPreferred NameUniprot ID
5075 ENSG00000125813 PAX1 P15863

List of causal flows containing the regulator.

Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.

Causal Mechanistic Flows with ENSG00000125813 as Regulator

IDMutationRoleRegulatorRoleRegulon# downstream regulons# diffexp regulonsDrugs
CMF-01172SKAP2down-regulatesPAX1repressesR-25431Drugs (29)
CMF-01261KRT37down-regulatesPAX1repressesR-25431Drugs (29)
CMF-03034OR5D14down-regulatesPAX1repressesR-25431Drugs (29)
CMF-04209RBPJLdown-regulatesPAX1repressesR-25432Drugs (29)
CMF-04368LILRB1down-regulatesPAX1repressesR-25431Drugs (29)
CMF-06076FGFR3down-regulatesPAX1repressesR-25431Drugs (29)
CMF-10007ALBdown-regulatesPAX1repressesR-25431Drugs (29)
CMF-11546PREX2down-regulatesPAX1repressesR-25431Drugs (29)
CMF-12692ABCA10down-regulatesPAX1repressesR-25431Drugs (29)
CMF-14609C1orf177down-regulatesPAX1repressesR-25431Drugs (29)
CMF-14873COL6A2down-regulatesPAX1repressesR-25431Drugs (29)
CMF-15373DSEdown-regulatesPAX1repressesR-25431Drugs (29)
CMF-19692UGT2B4down-regulatesPAX1repressesR-25431Drugs (29)
CMF-23693TP53up-regulatesPAX1repressesR-25433Drugs (29)
CMF-24319SMCHD1down-regulatesPAX1repressesR-25432Drugs (29)
CMF-24927NLRP1down-regulatesPAX1repressesR-25432Drugs (29)
CMF-27301CHD5down-regulatesPAX1repressesR-25431Drugs (29)
CMF-27583ANKRD36down-regulatesPAX1repressesR-25431Drugs (29)