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Symbol FOXP1 contributors: mct - updated : 02-02-2016
HGNC name forkhead box P1
HGNC id 3823
corresponding disease(s) MRLA , DLCRM
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in neoplastic cells, see TSG3G
tumoral fusion      
with IGHG1, t(3;14)(p14;q32) in diffuse large B-cell lymphoma
constitutional germinal mutation      
in sporadic autism spectrum disorders
tumoral     --over  
its expression negatively correlated with MKI67 expression in clear cell renal cell carcinomas
tumoral fusion      
with PAX5 in t(3;9)(p13;p13) recurrent in both childhood and in adult B-ALL
tumoral     --low  
is a common event in high-risk neuroblastoma pathogenesis and may contribute to tumor progression and unfavorable patient outcome
constitutional       loss of function
in autism spectrum disorder, gross motor delay, intellectual disability, expressive language impairment
  • to vitiligo
  • to language impairment, and autism spectrum disorders
  • Variant & Polymorphism SNP
  • rs17008713, located within FOXP1 associated with Vitiligo
  • nonsense mutation [p.R525X]) in the conserved forkhead DNA-binding domain associated with language impairment and autism (FOXP1 haploinsufficiency affects language development and possibly causes language impairment, and autism spectrum disorders (ASD) by disrupting this regulatory interaction)
  • FOXP1 variants are responsible for a more global cognitive phenotype, encompassing language impairment, intellectual disability, ASD and motor development delay
  • Candidate gene
    Therapy target