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FLASH GENE
Symbol JAK1 contributors: mct/npt/pgu - updated : 03-06-2020
HGNC name Janus kinase 1
HGNC id 6190
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in pediatric acute lymphoblastic leukemia
tumoral somatic mutation      
may contribute to the tumor development in liver cancer
tumoral     --low  
in breast invasive carcinoma compared with adjacent normal tissues
constitutional       loss of function
loss of JAK1 in NK cells drives innate immune deficiency
tumoral somatic mutation      
recurrent JAK1 truncating mutations that could contribute to tumor immune evasion in gynecologic cancers, especially in endometrial cancer
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerhemopathy 
inhibition of JAK signaling is a logical target for therapeutic intervention in JAK mutated ALL
cancerskin 
JAK1 is a potential therapeutic target for melanoma treatment
ANIMAL & CELL MODELS