Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

FOXP1

contributors: mct - updated : 02-02-2016

HGNC name	forkhead box P1
HGNC id	3823

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MRLA , DLCRM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

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

Marker

Therapy target

ANIMAL & CELL MODELS