FOXP1 Chromosome 3
Forkhead box P1
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What This Gene Does
This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Forkhead boxes|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p13
Ensembl
ENSG00000114861
Associated Conditions (25)
Intellectual disability
Anterior creases of earlobe
Delayed speech and language development
Strabismus
Glabellar hemangioma
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Inborn genetic diseases
FOXP1-related disorder
Autism spectrum disorder
Familial cancer of breast
Cerebellar vermis hypoplasia
Congenital cerebellar hypoplasia
Autism
Squamous cell lung carcinoma
Melanoma
Neurodevelopmental disorder
See cases
Acute myeloid leukemia
INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
Seizure
+5 more conditions
Key Variants
RS1004143711
Conflicting classifications of pathogenicity
Health Risk
RS1057518926
Conflicting classifications of pathogenicity
Intellectual disability, Anterior creases of earlobe, Delayed speech and language development
Health Risk
RS1291744448
Conflicting classifications of pathogenicity
Health Risk
RS1363644889
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143202281
Conflicting classifications of pathogenicity
Health Risk
RS1434208843
Conflicting classifications of pathogenicity
FOXP1-related disorder, FOXP1-related disorder
Health Risk
RS143503790
Conflicting classifications of pathogenicity
Health Risk
RS1453915867
Conflicting classifications of pathogenicity
Health Risk
RS148369068
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149759021
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553678368
Conflicting classifications of pathogenicity
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
Health Risk
RS1559602593
Conflicting classifications of pathogenicity
Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
Health Risk
All Variants (184)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2107748579 | Health Risk | Pathogenic | — |
| RS2545011269 | Health Risk | Pathogenic | See cases, See cases |
| RS2545049550 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2545050080 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2545109349 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2545122691 | Health Risk | Pathogenic | Rare genetic intellectual disability, Intellectual disability-severe speech delay-mild dysmorphism syndrome, Rare genetic intellectual disability |
| RS2545122831 | Health Risk | Pathogenic | — |
| RS2545124711 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, FOXP1-related disorder, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2545125396 | Health Risk | Pathogenic | — |
| RS2545126621 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2545542261 | Health Risk | Pathogenic | — |
| RS2545542981 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2545543509 | Health Risk | Pathogenic | FOXP1-related disorder, FOXP1-related disorder |
| RS2545822994 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS2545872938 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS398124429 | Health Risk | Pathogenic | — |
| RS745448468 | Health Risk | Pathogenic | Familial prostate cancer, Familial prostate cancer |
| RS752258317 | Health Risk | Pathogenic | — |
| RS763837297 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS769448730 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS775136381 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS794727155 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS794727215 | Health Risk | Pathogenic | — |
| RS797044652 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases, Developmental disorder |
| RS797045584 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS869025203 | Health Risk | Pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, FOXP1-related disorder, INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
| RS886041821 | Health Risk | Pathogenic | — |
| RS1057524152 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1064793130 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS1553663084 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases |
| RS1553663140 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases |
| RS1575803923 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome |
| RS794727216 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases, Colon adenocarcinoma |
| RS869025202 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability, INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |