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Relevance to Autism

Studies have found that rare mutations in the FOXP1 gene are associated with autism (O'Roak et al., 2011) as well as with intellectual disability and mental retardation (Hamdan et al., 2010; Horn et al., 2010).

Molecular Function

Transcriptional repressor. Plays an important role in the specification and differentiation of lung epithelium.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD, SCZ
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD, DD
Support
Increased gene expression of FOXP1 in patients with autism spectrum disorders.
ASD
Support
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
Support
A case report of de novo missense FOXP1 mutation in a non-Caucasian patient with global developmental delay and severe speech impairment.
DD
Speech delay
Support
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
DD, ID
ASD
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
ID
Macrocephaly, megalencephaly
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
ASD
Support
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.
ID
Speech delay, motor delay, repetitive behaviors
Support
Large-scale discovery of novel genetic causes of developmental disorders.
DD
Support
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, dysmorphic features
Support
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
ASD
Support
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
ASD
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Support
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
ASD
ID
Support
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
ID, ASD or autistic traits
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Macrocephaly
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1.
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Support
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
DD, ID
Autistic features
Support
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
ASD
Support
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
DD
Support
Whole genome sequencing identifies a de novo 2.1Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.
DD, ID, epilepsy/seizures
Autistic features
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
ID
Support
Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorde...
ASD, epilepsy/seizures
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
ASD
Support
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.
CAS
Support
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome.
ID
Autistic features, macrocephaly
Support
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
ID, ADHD
Autistic features, PDD-NOS
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
ID
Highly Cited
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.
Highly Cited
Parallel FoxP1 and FoxP2 expression in songbird and human brain predicts functional interaction.
Recent Recommendation
SUMOylation of FOXP1 regulates transcriptional repression via CtBP1 to drive dendritic morphogenesis.
Recent Recommendation
FoxP1 orchestration of ASD-relevant signaling pathways in the striatum.
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
An Autism-Related, Nonsense Foxp1 Mutant Induces Autophagy and Delays Radial Migration of the Cortical Neurons.
Recent Recommendation
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.
ASD, ID
Macrocephaly
Recent Recommendation
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.
Recent Recommendation
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
ID
Recent Recommendation
Prospective investigation of FOXP1 syndrome.
Mental retardation with language impairment and wi
ID, ASD or autistic features
Recent Recommendation
FOXP1-related intellectual disability syndrome: a recognisable entity.
ID
Autistic features

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN095R001 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R002 
 stop_gained 
 c.1573C>T 
 p.Arg525Ter 
 De novo 
 NA 
  
 GEN095R003 
 missense_variant 
 c.643C>A 
 p.Pro215Thr 
 Familial 
  
  
 GEN095R004 
 copy_number_loss 
  
  
 Unknown 
 Not maternal 
  
 GEN095R005 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R006 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R007 
 missense_variant 
 c.13T>C 
 p.Ser5Pro 
 Familial 
 Maternal 
  
 GEN095R008 
 inframe_insertion 
  
  
 Familial 
 Maternal 
  
 GEN095R009 
 missense_variant 
 c.301A>G 
 p.Met101Val 
  
  
  
 GEN095R010 
 missense_variant 
 c.643C>G 
 p.Pro215Ala 
 Familial 
 Maternal 
  
 GEN095R011 
 missense_variant 
 c.781T>C 
 p.Ser261Pro 
  
  
  
 GEN095R012 
 missense_variant 
 c.1168A>T 
 p.Thr390Ser 
 Familial 
 Maternal 
  
 GEN095R013 
 missense_variant 
 c.1709A>G 
 p.Asn570Ser 
 Familial 
 Paternal 
  
 GEN095R014 
 missense_variant 
 c.1781T>G 
 p.Leu594Arg 
  
  
  
 GEN095R015 
 synonymous_variant 
 c.768G>A 
 p.Thr256%3D 
  
  
  
 GEN095R016 
 synonymous_variant 
 c.1188G>A 
 p.Ser396%3D 
 Familial 
 Maternal 
  
 GEN095R017 
 synonymous_variant 
 c.1515C>T 
 p.Asn505%3D 
 Familial 
 Maternal 
  
 GEN095R018 
 5_prime_UTR_variant 
 G>A 
  
 Familial 
 Paternal 
  
 GEN095R019 
 intron_variant 
 T>C 
  
  
  
  
 GEN095R020 
 intron_variant 
 G>A 
  
  
  
  
 GEN095R021 
 intron_variant 
 C>T 
  
  
  
  
 GEN095R022 
 intron_variant 
 A>G 
  
 Familial 
 Maternal 
  
 GEN095R023 
 intron_variant 
 C>T 
  
  
  
  
 GEN095R024 
 intron_variant 
 A>G 
  
 Familial 
 Maternal 
  
 GEN095R025 
 intron_variant 
 A>C 
  
  
  
  
 GEN095R026 
 intron_variant 
 G>T 
  
  
  
  
 GEN095R027 
 frameshift_variant 
 c.1014dup 
 p.Ala339SerfsTer4 
 De novo 
 NA 
 Simplex 
 GEN095R028 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN095R029 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN095R030 
 copy_number_loss 
  
  
 Unknown 
  
 Multiplex 
 GEN095R031 
 missense_variant 
 c.320T>C 
 p.Ile107Thr 
 Unknown 
  
 Unknown 
 GEN095R032 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN095R033 
 missense_variant 
 c.299C>G 
 p.Ala100Gly 
 Familial 
 Maternal 
 Multiplex 
 GEN095R034 
 copy_number_loss 
  
  
 De novo 
 NA 
 Simplex 
 GEN095R035 
 splice_site_variant 
 c.919G>A 
 p.Val307Ile 
 De novo 
 NA 
 Simplex 
 GEN095R036 
 stop_gained 
 c.1366C>T 
 p.Gln456Ter 
 De novo 
 NA 
 Simplex 
 GEN095R037 
 missense_variant 
 c.1169C>T 
 p.Thr390Ile 
 De novo 
 NA 
 Simplex 
 GEN095R038 
 initiator_codon_variant 
 c.1A>G 
 p.Met1? 
 De novo 
 NA 
 Simplex 
 GEN095R039 
 stop_gained 
 c.1507C>T 
 p.Arg503Ter 
 De novo 
 NA 
 Simplex 
 GEN095R040 
 frameshift_variant 
 c.1267_1268del 
 p.Val423HisfsTer36 
 De novo 
 NA 
 Simplex 
 GEN095R041 
 missense_variant 
 c.1393A>G 
 p.Arg465Gly 
 De novo 
 NA 
  
 GEN095R042 
 missense_variant 
 c.1540C>T 
 p.Arg514Cys 
 De novo 
 NA 
  
 GEN095R043 
 stop_gained 
 c.1317C>G 
 p.Tyr439Ter 
 De novo 
 NA 
  
 GEN095R044 
 missense_variant 
 c.1546C>T 
 p.Arg516Cys 
 De novo 
 NA 
  
 GEN095R045 
 stop_gained 
 c.1317C>G 
 p.Tyr439Ter 
 De novo 
 NA 
  
 GEN095R046 
 intergenic_variant 
 delTTAAG 
  
  
  
 Unknown 
 GEN095R047 
 intergenic_variant 
 C>G 
  
  
  
 Unknown 
 GEN095R048 
 intergenic_variant 
 C>T 
  
  
  
 Unknown 
 GEN095R049 
 intergenic_variant 
 T>A 
  
  
  
 Unknown 
 GEN095R050 
 missense_variant 
 c.125C>T 
 p.Pro42Leu 
 Familial 
 Maternal 
  
 GEN095R051 
 missense_variant 
 c.125C>T 
 p.Pro42Leu 
 Familial 
 Maternal 
  
 GEN095R052 
 missense_variant 
 c.1807G>A 
 p.Ala603Thr 
 Familial 
 Maternal 
  
 GEN095R053 
 missense_variant 
 c.115G>A 
 p.Gly39Arg 
 Familial 
 Maternal 
  
 GEN095R054 
 missense_variant 
 c.952G>A 
 p.Glu318Lys 
 Familial 
 Paternal 
  
 GEN095R055 
 missense_variant 
 c.110C>G 
 p.Ser37Cys 
 Familial 
 Paternal 
  
 GEN095R056 
 stop_gained 
 c.1573C>T 
 p.Arg525Ter 
 De novo 
 NA 
  
 GEN095R057 
 translocation 
  
  
 De novo 
 NA 
  
 GEN095R058 
 frameshift_variant 
 c.450dup 
 p.Gln151ThrfsTer19 
 De novo 
 NA 
 Simplex 
 GEN095R059 
 frameshift_variant 
 c.1705_1706insTGCAGCTTTACAG 
 p.Asn569MetfsTer14 
 De novo 
 NA 
  
 GEN095R060 
 missense_variant 
 c.1295C>T;c.1367C>T;c.1592C>T;c.1595C>T;c.1601C>T 
 p.Ala432Val;p.Ala456Val;p.Ala531Val;p.Ala532Val;p.Ala534Val 
 De novo 
 NA 
 Simplex 
 GEN095R061 
 frameshift_variant 
 c.1177_1181dup 
 p.Ala395SerfsTer22 
 De novo 
 NA 
 Simplex 
 GEN095R062 
 splice_site_variant 
 c.1349-5_1350del 
  
 De novo 
 NA 
  
 GEN095R063 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R064 
 stop_gained 
 c.1573C>T 
 p.Arg525Ter 
 De novo 
 NA 
  
 GEN095R065 
 stop_gained 
 c.1526G>A 
 p.Trp509Ter 
 Unknown 
  
  
 GEN095R066 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R067 
 frameshift_variant 
 c.229del 
 p.Gln77LysfsTer5 
 De novo 
 NA 
  
 GEN095R068 
 missense_variant 
 c.1543C>G 
 p.His515Asp 
 De novo 
 NA 
  
 GEN095R069 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R070 
 stop_gained 
 c.1573C>T 
 p.Arg525Ter 
 De novo 
 NA 
  
 GEN095R071 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R072 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R073 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R074 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R075 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R076 
 splice_site_variant 
 c.974+1G>C 
  
 De novo 
 NA 
  
 GEN095R077 
 stop_gained 
 c.1579G>T 
 p.Glu527Ter 
 De novo 
 NA 
  
 GEN095R078 
 missense_variant 
 c.1169C>T 
 p.Thr390Ile 
 De novo 
 NA 
  
 GEN095R079 
 frameshift_variant 
 c.1465delinsAACAC 
 p.Glu489AsnfsTer5 
 De novo 
 NA 
  
 GEN095R080 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R081 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R082 
 splice_site_variant 
 c.1429-2A>G 
  
 De novo 
 NA 
  
 GEN095R083 
 frameshift_variant 
 c.932_936del 
 p.Pro311LeufsTer2 
 Unknown 
  
  
 GEN095R084 
 splice_site_variant 
 c.511-1G>A 
  
 Unknown 
  
  
 GEN095R085 
 stop_gained 
 c.1573C>T 
 p.Arg525Ter 
 De novo 
 NA 
  
 GEN095R086 
 copy_number_loss 
  
  
 De novo 
 NA 
  
 GEN095R087 
 stop_gained 
 c.693C>G 
 p.Leu231%3D 
 De novo 
 NA 
  
 GEN095R088 
 missense_variant 
 c.1541G>A 
 p.Arg514His 
 De novo 
 NA 
  
 GEN095R089 
 missense_variant 
 c.1541G>A 
 p.Arg514His 
 De novo 
 NA 
  
 GEN095R090 
 missense_variant 
 c.1538G>A 
 p.Arg513His 
 De novo 
 NA 
  
 GEN095R091 
 missense_variant 
 c.1538G>A 
 p.Arg513His 
 De novo 
 NA 
  
 GEN095R092 
 splice_site_variant 
 c.975-2A>C 
  
 De novo 
 NA 
  
 GEN095R093 
 frameshift_variant 
 c.1333_1335delinsAA 
 p.Val445AsnfsTer29 
 De novo 
 NA 
  
 GEN095R094 
 missense_variant 
 c.1506C>G 
 p.Phe502Leu 
 De novo 
 NA 
  
 GEN095R095 
 frameshift_variant 
 c.1240del 
 p.Leu414Ter 
 Unknown 
  
  
 GEN095R096 
 missense_variant 
 c.1409A>G 
 p.Tyr470Cys 
 De novo 
 NA 
  
 GEN095R097 
 inframe_deletion 
 c.1649+434_1649+445del 
  
 De novo 
 NA 
  
 GEN095R098 
 splice_site_variant 
 c.1425+1G>A 
  
 De novo 
 NA 
  
 GEN095R099 
 inversion 
  
  
 De novo 
 NA 
  
 GEN095R100 
 splice_site_variant 
 c.975-2A>C 
  
 De novo 
 NA 
  
 GEN095R101 
 missense_variant 
 c.1574G>A 
 p.Arg525Gln 
 De novo 
 NA 
  
 GEN095R102 
 missense_variant 
 c.1649+418G>A 
  
 De novo 
 NA 
  
 GEN095R103 
 missense_variant 
 c.1574G>A 
 p.Arg525Lys 
 Unknown 
 Not paternal 
  
 GEN095R104 
 splice_site_variant 
 c.1722+1>TGCAGCTTTACAG 
 p.? 
 De novo 
 NA 
 Simplex 
 GEN095R105 
 frameshift_variant 
 c.1241del 
 p.Leu414ArgfsTer59 
 De novo 
 NA 
 Simplex 
 GEN095R106 
 frameshift_variant 
 c.1240dup 
 p.Leu414ProfsTer46 
 De novo 
 NA 
 Simplex 
 GEN095R107 
 missense_variant 
 c.110C>G 
 p.Ser37Cys 
 Familial 
 Maternal 
 Simplex 
 GEN095R108 
 frameshift_variant 
 c.37_40del 
 p.Gly13GlnfsTer14 
 Familial 
 Maternal 
 Simplex 
 GEN095R109 
 frameshift_variant 
 c.1160_1161insTAAGACGTTGTTTTTTTCCTTGCAGTTGAATCTGGTATCA 
 p.Ser388LysfsTer85 
 Familial 
 Maternal 
 Simplex 
 GEN095R110 
 missense_variant 
 c.155C>T 
 p.Ala52Val 
 Familial 
 Maternal 
 Simplex 
 GEN095R111 
 missense_variant 
 c.110C>G 
 p.Ser37Cys 
 Unknown 
  
 Simplex 
 GEN095R112 
 missense_variant 
 c.2060C>G 
 p.Pro687Arg 
 De novo 
 NA 
 Simplex 
 GEN095R113 
 missense_variant 
 c.155C>T 
 p.Ala52Val 
 De novo 
 NA 
  
 GEN095R114 
 complex_structural_alteration 
  
  
 Familial 
 Maternal 
 Multi-generational 
 GEN095R115 
 3_prime_UTR_variant 
 c.*3413_*3414del 
  
 De novo 
 NA 
 Simplex 
 GEN095R116 
 stop_gained 
 c.1627C>T 
 p.Arg543Cys 
 De novo 
 NA 
  
 GEN095R117 
 missense_variant 
 c.1355T>G 
 p.Ile452Ser 
 Familial 
 Paternal 
  
 GEN095R118 
 missense_variant 
 c.1541G>A 
 p.Arg514His 
 De novo 
 NA 
 Simplex 
 GEN095R119 
 missense_variant 
 c.1541G>A 
 p.Arg514His 
 De novo 
 NA 
 Simplex 
 GEN095R120 
 frameshift_variant 
 c.1707_1719dup 
 p.Ala574CysfsTer9 
 De novo 
 NA 
  
 GEN095R121 
 frameshift_variant 
 c.448del 
 p.Gln150AsnfsTer56 
 De novo 
 NA 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN095C001 
 intron_variant 
 rs6803008 
 c.-297-28639G>A;c.-298+21230G>A;c.-202-28639G>A 
  
 ASD and schizophrenia GWAS data from the Psychiatric Genomics Consortium (PGC) 
 Discovery 
 GEN095C002 
 intron_variant 
 rs76188283 
 c.1527+1396G>A;c.1530+1396G>A;c.1302+1396G>A;c.1230+1396G>A;c.1536+1396G>A;c.1533+1396G>A;c.1308+139 
  
 7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection 
 Discovery 
 GEN095C003 
 intron_variant 
 rs7632921 
 c.-297-1052C>A;c.-202-1052C>A 
  
 40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion
 10
 
3
Deletion
 1
 
3
Deletion-Duplication
 21
 
3
Deletion
 2
 
3
Deletion
 10
 
3
Deletion
 1
 
3
Deletion-Duplication
 15
 

Model Summary

Homozygous conditional brain-specific knockout mice display neuroanatomical anomalies in the striatum and hippocampus, as well as altered spontaneous synaptic transmission, and impaired cognitive function and social behavior.

References

Type
Title
Author, Year
Additional
Foxp1 regulates cardiac outflow tract, endocardial cushion morphogenesis and myocyte proliferation and maturation.
Primary
Brain-specific Foxp1 deletion impairs neuronal development and causes autistic-like behaviour.
Additional
FoxP1 orchestration of ASD-relevant signaling pathways in the striatum.
Additional
Foxp1 in Forebrain Pyramidal Neurons Controls Gene Expression Required for Spatial Learning and Synaptic Plasticity.
Additional
Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1 +/- mice.

M_FOXP1_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeting deletes the forkhead domain of Foxp1 and replaces it with the neomycin resistance gene using homologous recombination, hetereozygous mice were bred to obtain homozygous null embryos.
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: 129Sv*C57BL/6
ES Cell Line: SM1-129SVJ
Mutant ES Cell Line:
Model Source: PMID: 15342473

M_FOXP1_1_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 11-12 of the Foxp1 gene using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: SM1-129SVJ
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_FOXP1_2_CKO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Conditional heterozygous deletion of exons 11-12 of the Foxp1 gene using Nestin-cre, in neuronal, glial and other cell types in the central and peripheral nervous system
Allele Type: Conditional loss-of-function
Strain of Origin: C57BL/6
Genetic Background: C57BL/6
ES Cell Line: SM1-129SVJ
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_FOXP1_3_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: The N terminal two thirds of the protein was removed by targeted a lacZ_ neo cassette including the forkhead domain. The homozygous KO is embryonic lethal at E14.5.
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: C57BL/6
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_FOXP1_4_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: The Foxp1 het KO mice were crossed with Drd1a -td tomato reporter mice to identify Drd1a expressing neurons.
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_FOXP1_5_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: The Foxp1 het KO mice were crossed with Drd2-GFP reporter mice to identify Drd2 expressing neurons.
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background:
ES Cell Line:
Mutant ES Cell Line:
Model Source:

M_FOXP1_6_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of exons 11-12 of the Foxp1 gene using Emx1-cre, in neurons and glia of the neocortex, hippocampus and pallium, E10.5 onwards
Allele Type: Conditional loss-of-function
Strain of Origin: Not specified
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Jackson Laboratories (strain # 005628)

M_FOXP1_7_KO_HT

Model Type: Genetic
Model Genotype: Heterozygous
Mutation: Gene targeting deletes the forkhead domain of Foxp1 (exons 12, 13 and 14) and replaces it with the neomycin resistance gene using homologous recombination, hetereozygous mice were bred to obtain homozygous null embryos; 15342473; M_FOXP1_1_KO_HM
Allele Type: Targeted (knockout)
Strain of Origin:
Genetic Background: 129Sv*C57BL/6
ES Cell Line: SM1-129SVJ
Mutant ES Cell Line: Not Specified
Model Source: PMID 15342473

M_FOXP1_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Mortality/lethality: embryonic1
Increased
Description: No Foxp1 null pups are recovered postnatally
 Survival analysis
 P0
Cardiovascular development and function1
Decreased
Description: Foxp1 null embryos display severe ventricular septation defects, increased truncus arteriosus, improper separation outflow tracts (aorta and pulmonary artery), in addition they show impaired development of mitral, atrial, pulmonary and aortic valves. At E14.5 the embryos displayed signs of cardiovascular failure
 Histology
 E11.5, E14.5
Cell proliferation1
Increased
Description: Anomalous increase in cell proliferatin in themyocardial trabecular zone, unlike what is observed in the WT embryos
 Immunohistochemistry
 E13.5
Targeted expression1
Decreased
Description: No Foxp1 protein is detected in the embryonic heart of homozygous knockout embryos
 Immunohistochemistry
 E13.5
Gene expression1
Decreased
Description: Expression of Sox4 is reduced in the Foxp1 heart
 In situ hybridization (ish)
 E11.5, E14.5
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_FOXP1_1_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Hyperactivity1
Increased
Description: Increased total distance travelled and total rearing time
Exp Paradigm: Open field test
 Open field test
 Adult
Morphology of the basal ganglia: ventral striatum or nucleus accumbens1
Increased
Description: Increased size of ventral striatum
 Histology
 Adult
Morphology of the basal ganglia: striatum: caudoputamen1
Decreased
Description: Decreased size of dorsal striatum
 Histology
 P1, P21, adult
Hippocampal morphology1
Abnormal
Description: Misalignment of CA1 pyramidal cell neurons and less densely packed neurons in this layer
Exp Paradigm: Histology: Nissl staining
 Histology
 adult
Size of cerebral ventricles: lateral ventricle1
Increased
Description: Increased size of lateral ventricles
 Immunohistochemistry
 Adult
Dendritic architecture: dendritic tree complexity1
Abnormal
Description: Apical dendritic branches did not exceed 600 m from the soma and clustered in closer proximity to the somatic compartment than in wild type, while dendritic length was unaffected
Exp Paradigm: Sholl analysis
 Sholl analysis
 Unreported
Synaptic transmission: excitatory1
Decreased
Description: Decreased firing rate in response to depolarizing current steps
Exp Paradigm: Whole-cell patch clamp recordings of individual CA1 pyramidal neurons in the hippocampus
 Whole-cell patch clamp
 3 weeks
Miniature post synaptic current amplitude: excitatory1
Increased
Description: Increased amplitude of mEPSCs
Exp Paradigm: Whole-cell patch clamp recordings of individual CA1 pyramidal neurons in the hippocampus
 Whole-cell patch clamp
 3 weeks
Vertical jumping or back flipping1
Increased
Description: Increased jumping and wall scrabbling
Exp Paradigm: Open field test
 Open field test
 Adult
Startle response: acoustic stimulus1
Decreased
Description: Decreased amplitude of ASR without the prepulse
Exp Paradigm: Acoustic startle reflex test
 Acoustic startle reflex test
 Adult
Sensorimotor gating1
Decreased
Description: Decreased PPI when the prepulse intensity was 70, 75 or 80 dB, but not 65 dB
Exp Paradigm: Prepulse inhibition
 Prepulse inhibition
 Adult
Nest building behavior1
Decreased
Description: Impaired nest building
Exp Paradigm: Nest building assay
 Nest building assay
 Adult
Social interaction1
Decreased
Description: Decreased social exploratory behaviour, namely anogenital exploration, non-anogenital exploration and approach and following
Exp Paradigm: Reciprocal social interaction test: juvenile wild-type stimulus mouse
 Reciprocal social interaction test
 Adult
Size/growth2
Decreased
Description: Mutants show decrease in body weight.
 Body weight measurement
 Adult
Size/growth1
Decreased
Description: Decreased body weight compared to wild type
Exp Paradigm: General observations
 General observations
 Unreported
Digestive system morphology: GI tract wall2
Abnormal
Description: Mutants show increased thickness of the esophageal muscle layer, the tunica muscularis. Mutants show no change in the ratio of longitudinal to circular muscle thickness in the esophagus and no morphological changes in the stomach, duodenum, ileum and colon.
 Histology
 P12.5
Anxiety1
Decreased
Description: Decreased anxiety measured by more entries into open arms, and more time spent in open arms, as well as a reduction in anxiety-related behaviors in the open field
Exp Paradigm: Open field test
 Open field test
 Adult
Anxiety1
Decreased
Description: Decreased anxiety measured by more entries into open arms, and more time spent in open arms, as well as a reduction in anxiety-related behaviors in the open field
Exp Paradigm: Elevated plus maze test
 Elevated plus maze test
 Adult
Object recognition memory1
Decreased
Description: Impaired short-term memory for novel object measured as time spent exploring novel object
Exp Paradigm: Novel object recognition test - 15-minute test
 Novel object recognition test
 Adult
Spatial reference memory1
Decreased
Description: Impaired short-term memory for novel object location measured as time spent exploring object in novel location
Exp Paradigm: Object-place recognition test - 15-minute test
 Object-place recognition test
 Adult
Gene expression2
Abnormal
Description: Mutants show 37 genes were dysregulated in the striatum including the autism risk genes Cacna2d3, Cdh8, Grik2, Unc8 and Grid2. 5 dysregulated genes (Epha7, Nexn, Rbms3, Vcl, and Wls) are also expressed in the esophagus.
 Gene expression microarray
 E18.5, P1.5
Gene expression1
Abnormal
Description: Differential regulation of 85 genes: 61 upregulated and 24 downregulated. Gene ontology and pathway analysis revealed that pathways involved in nucleosome and chromatin assembly, mitosis and DNA replication are significantly affected.
Exp Paradigm: Gene expression microarray followed by pathway and gene ontology analysis of differentially expressed genes
 Gene expression microarray
 P1
Morphology of the basal ganglia: striatum: caudoputamen1
 No change
 Immunohistochemistry
 E18
Membrane potential1
 No change
 Whole-cell patch clamp
 3 weeks
Miniature post synaptic current amplitude: inhibitory1
 No change
 Whole-cell patch clamp
 3 weeks
Miniature post synaptic current frequency: excitatory1
 No change
 Whole-cell patch clamp
 3 weeks
Miniature post synaptic current frequency: inhibitory1
 No change
 Whole-cell patch clamp
 3 weeks
Presynaptic function: paired-pulse facilitation1
 No change
 Whole-cell patch clamp
 3 weeks
Synaptic plasticity: hippocampal ltp1
 No change
 Field potential recordings
 3 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Homeostasis, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_FOXP1_2_CKO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Object recognition memory1
 No change
 Novel object recognition test
 Adult
Spatial reference memory1
 No change
 Object-place recognition test
 Adult
Hyperactivity1
 No change
 Open field test
 Adult
Sensorimotor gating1
 No change
 Prepulse inhibition
 Adult
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 Adult
Nest building behavior1
 No change
 Nest building assay
 Adult
Social interaction1
 No change
 Reciprocal social interaction test
 Adult
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure

M_FOXP1_3_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Hyperactivity1
Increased
Description: Foxp1 het mice show increased distance travelled and average velocity compared to wildtype controls in the open field test indicating increase in hyperactivity
 Open field test
 Adult
Grip strength1
Decreased
Description: Foxp1 het mice have reduced grip strength in both forelimbs and hindlimbs
 Grip strength test
 Adult
Ultrasonic vocalization: isolation induced1
Decreased
Description: Foxp1 het mice show reduced USV in response to maternal separation, determined by the number of bouts of calling and the number of calls
 Monitoring ultrasonic vocalizations
 P4, P7
Gene expression1
Increased
Description: There is increased expression of DPP10 in Foxp1 het mice
 Quantitative pcr (qrt-pcr)
 7 weeks
Gene expression1
Decreased
Description: There is decreased expression of KCND2 in Foxp1 het mice
 Quantitative pcr (qrt-pcr)
 7 weeks
Targeted expression1
Decreased
Description: Foxp1 het mice have a 50% reduction of Foxp1 protein in the hippocampus and striatum. However authors note that neocortex does not have a reduction in Foxp1 levels
 Western blot
 
Audible vocalization1
 No change
 Monitoring vocalizations
 Adult
Size/growth1
 No change
 Body weight measurement
 Adult
Gait1
 No change
 General observations
 Adult
General locomotor activity1
 No change
 Open field test
 Adult
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Adult
Righting response1
 No change
 Righting reflex test
 Adult
Tremor1
 No change
 General observations
 
Self grooming: perseveration1
 No change
 Grooming behavior assessments
 Adult
Startle response: acoustic stimulus1
 No change
 Acoustic startle reflex test
 Adult
Nest building behavior1
 No change
 Nest building assay
 Adult
 Not Reported: Circadian sleep/wake cycle, Emotion, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Seizure

M_FOXP1_4_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Action potential firing1
 No change
 Whole-cell patch clamp
 P18
Intrinsic membrane properties1
 No change
 Whole-cell patch clamp
 P18
Spontaneous post synaptic event amplitude: excitatory currents1
 No change
 Whole-cell patch clamp
 P18
Spontaneous post synaptic events: excitatory currents1
 No change
 Whole-cell patch clamp
 P18
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_FOXP1_5_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Spontaneous post synaptic event amplitude: excitatory currents1
Decreased
Description: There is decrease in the amplitude of spontaneous excitatory post synaptic currents in the D2 positive MSNs from Foxp1 het mice
 Whole-cell patch clamp
 P18
Intrinsic membrane properties1
Increased
Description: There is an increase in resistance of the membranes of D2+ MSNs
 Whole-cell patch clamp
 P18
Action potential firing1
Increased
Description: There is increase in the frequency of action potentials generated at a given current step, indicating increase in excitability of the D2 positive MSNs from Foxp1 het mice
 Whole-cell patch clamp
 P18
Spontaneous post synaptic events: excitatory currents1
 No change
 Whole-cell patch clamp
 P18
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_FOXP1_6_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity: ambulatory activity1
Increased
Description: Mutant mice travel longer distances on the open field compared to controls.
 Open field test
 Adult (> 8 weeks)
General locomotor activity1
Increased
Description: Mutant mice show sustained increase in baseline activity in a novel cage compared to controls.
 Novel cage test
 Adult (> 8 weeks)
Brain size1
Increased
Description: Mutants show increase volume in some brain regions including cerebellar nuclei, cerebellar white matter and subcortical nuclei compared to controls.
 Magnetic resonance imaging (mri)
 Adult (> 8 weeks)
Brain size1
Decreased
Description: Mutants show decrease in overall brain size as well as decrease in regional volumes of of the hippocampus and neocotex constituting white matter and neuronal tracts expressing emx1, compared to controls.
 Magnetic resonance imaging (mri)
 Adult (> 8 weeks)
Synaptic plasticity: hippocampal ltp1
Decreased
Description: Mutants show decrease in the mean LTP during the last 10mins of stimulation although the initial magnitude of CA1 LTP showed no change compared to controls.
Exp Paradigm: LTP in the hippocampal CA1 in response to Schaffer collateral stimulation
 Whole-cell patch clamp
 6-7 weeks
Social interaction1
Decreased
Description: Mutants spent less time in the interaction zone compared to controls.
 Reciprocal social interaction test
 Adult (> 8 weeks)
Nest building behavior1
Decreased
Description: Mutants produced poorer nests compared to controls and in most cases did not interact with the nesting material.
 Nest building assay
 Adult (> 8 weeks)
Ultrasonic vocalization: interaction induced: opposite sex stimulus1
Decreased
Description: Mutant males produce fewer, simpler, and shorter songs, covering a shorter range of frequencies, in the presence of an age matched estrous female, compared to controls. Mutant males show no change in mean frequency of ultrasonic vocalizations compared to controls.
 Monitoring ultrasonic vocalizations
 Adult (> 8 weeks)
Anxiety1
Increased
Description: Mutants spend less time in the center of the open field compared to controls.
 Open field test
 Adult (> 8 weeks)
Reward reinforced choice behavior: short-term memory1
Decreased
Description: Mutants perform no better than chance in acquiring the reward compared to controls.
 T-maze test
 Adult (> 8 weeks)
Spatial working memory1
Decreased
Description: Mutants never learn to find the submerged platform compared to controls, over the course of the training period.
 Morris water maze test
 Adult (> 8 weeks)
Spatial reference memory1
Decreased
Description: Mutants make fewer platform crosses compared to controls, during the probe trial 48hrs after training.
 Morris water maze test
 Adult (> 8 weeks)
Targeted expression1
Decreased
Description: Mutant mice show almost complete loss of foxp1 in the neocortex and hippocampus compared to controls.
 Western blot
 Adult (> 8 weeks)
Gene expression1
Abnormal
Description: Mutants show differential gene expression in genes involved in long term potentiation, synaptic transmission, and learning and memory, compared to controls, with significant overlap with ASD genes. Mutants show overlap of changes in gene expression in a directionally consistent manner with hippocampal target genes in the previously published Foxp1 heterozygous mutants.
 Rna sequencing
 Adult (> 8 weeks)
Targeted expression1
Decreased
Description: Mutant mice show absence of foxp1 in the neocortex and the CA1 or CA2 hippocampus compared to controls.
 Immunohistochemistry
 Adult (> 8 weeks)
Gene expression1
Abnormal
Description: Mutants show unique changes in Ccnd1, Dsp, Gnb4, Grin3a, Rasd1, Runx1t1, and Sorcs3 that are not seen in Foxp1 heterozygous samples published previously. Gnb4, Grin3a, Rasd1 have been previously implicated in hippocampal learning and memory.
Exp Paradigm: comparison with microarrays performed on hippocampi 5-hours after undergoing LTP-inducing high-frequency stimulation
 Quantitative pcr (qrt-pcr)
 1.6 months
Gene expression1
Abnormal
Description: Mutants show perturbations in gene expression in the hippocampal CA1 neurons, compared to controls, showing significant overlap with the RNA sequencing dataset. Weighted gene co-expression network analysis show changes in the ASD genes cadm2m Prkcb, Scn8a, Syne1, Fmr1, kcnj10, Kcnq3, and Slc4a2.
 Single-cell gene expression analysis
 Adult (> 8 weeks)
General characteristics1
 No change
 General observations
 Adult (> 8 weeks)
Mortality/lethality1
 No change
 General observations
 Adult (> 8 weeks)
Size/growth1
 No change
 Body weight measurement
 Adult (> 8 weeks)
Cued or contextual fear conditioning: memory of context1
 No change
 Fear conditioning test
 Adult (> 8 weeks)
Cued or contextual fear conditioning: memory of cue1
 No change
 Fear conditioning test
 Adult (> 8 weeks)
Reward reinforced choice behavior1
 No change
 Buried food test
 Adult (> 8 weeks)
Targeted expression1
 No change
 Immunohistochemistry
 Adult (> 8 weeks)
Targeted expression1
 No change
 Western blot
 Adult (> 8 weeks)
Swimming ability1
 No change
 Morris water maze test
 Adult (> 8 weeks)
Epsp-spike relationship1
 No change
 Whole-cell patch clamp
 6-7 weeks
Hearing1
 No change
 Fear conditioning test
 Adult (> 8 weeks)
Pain or nociception1
 No change
 Fear conditioning test
 Adult (> 8 weeks)
Vision1
 No change
 Morris water maze test
 Adult (> 8 weeks)
 Not Reported: Circadian sleep/wake cycle, Immune response, Maternal behavior, Physiological parameters, Repetitive behavior, Seizure

M_FOXP1_7_KO_HT

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Size/growth1
Decreased
Description: Mutants show decrease in body weight but no change in gross size at 8 weeks. Male mutants show decrease in body weight at 8, 14 and 24 weeks.
 Body weight measurement
 8, 14, 24 weeks
Myogenesis1
Decreased
Description: Mutants show decrease in muscle cell number but no change in muscle cell density in the tunica muscularis of the esophagus compared with controls.
 Histology
 P12.5
Digestive system morphology: GI tract wall1
Abnormal
Description: Mutants show decreased thickness of the esophageal and colon muscle layer, the tunica muscularis. Mutants show no change in the ratio of longitudinal to circular muscle thickness in the tunica muscularis.
 Histology
 P12.5, Adult
Depression1
Increased
Description: Mutants show increased immobility in the new LABORAS cage.
 Novel cage test
 8 weeks
Gene expression1
Decreased
Description: Mutants show decreased gene expression of Nexn, Rbms3, and Wis in the esophagus in the adult stage but not at P12.5.
 Quantitative PCR (qRT-PCR)
 Adult, P12.5
Cell proliferation1
Decreased
Description: Mutants show decrease in Ki67 positive cells in the tunica mucosa of the esophagus compared with controls.
 Histology
 P12.5
Targeted expression1
Decreased
Description: Mutants show reduction in Foxp1 transcript levels in the esophagus, stomach, intestines and colon.
 Quantitative PCR (qRT-PCR)
 P12.5, Adult
Targeted expression1
Decreased
Description: Mutants show reduction in Foxp1 protein levels in the esophagus and colon.
 Western blot
 P12.5, Adult
Digestive system morphology1
 No change
 Histology
 P12.5, Adult
Digestive system morphology: interstitial cells of Cajal1
 No change
 Histology
 P12.5, Adult
Digestive system morphology: intestine1
 No change
 Gross necroscopy
 8 weeks
Size/growth1
 No change
 Body weight measurement
 P12.5
Cytoskeletal organization1
 No change
 Histology
 Adult
General locomotor activity: Ambulatory activity1
 No change
 Novel cage test
 8 weeks
Apoptosis1
 No change
 Histology
 P12.5
Digestive system function: gastrointestinal motility: gastric emptying1
 No change
 Measurement of GI motility
 8 weeks
 Not Reported: Circadian sleep/wake cycle, Communications, Homeostasis, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / Ultrastructure / Cytoarchitecture, Neurophysiology, Repetitive behavior, Seizure, Sensory, Social behavior


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
4-Oct POU class 5 homeobox 1 5460 Q01860 GST; ChIP
Gabut M , et al. 2011
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 4363 P33527 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ACTN2 actinin, alpha 2 88 P35609 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 9510 Q9UHI8 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ADGRL4 adhesion G protein-coupled receptor L4 64123 Q9HBW9 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
AR androgen receptor 367 P10275 ChIP
Takayama K , et al. 2008
ARAP2 ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 116984 Q8WZ64 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ASS1 Argininosuccinate synthase 445 P00966 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
B3GALT2 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase 2 8707 O43825 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
BIK BCL2-interacting killer (apoptosis-inducing) 638 Q13323 ChIP
van Boxtel R , et al. 2013
BMPR1B bone morphogenetic protein receptor, type IB 658 O00238 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CBLN4 cerebellin 4 precursor 140689 Q9NTU7 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CCL2 chemokine (C-C motif) ligand 2 6347 P13500 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CDH8 cadherin 8, type 2 1006 P55286 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CHAC2 ChaC, cation transport regulator homolog 2 (E. coli) 494143 Q8WUX2 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CHD8 chromodomain helicase DNA binding protein 8 57680 Q9HCK8 CHIP-seq
Cotney J , et al. 2015
CHST2 carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 9435 Q9Y4C5 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CNTN6 contactin 6 27255 Q9UQ52 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CRH corticotropin releasing hormone 1392 P06850 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
CSF1R colony stimulating factor 1 receptor 1436 P07333 IP/WB
Shi C and Simon DI 2006
CTBP1 C-terminal binding protein 1 13016 O88712 IP/WB
Li S , et al. 2004
CYTH1 cytohesin 1 9267 Q15438 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
DMD dystrophin 1756 P11532 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
DPP10 dipeptidyl-peptidase 10 (non-functional) 57628 Q8N608 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
DPP6 dipeptidyl-peptidase 6 1804 P42658 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
DPYD dihydropyrimidine dehydrogenase 1806 Q12882 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ECE1 PSD3 1889 P42892 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
EDN3 endothelin 3 1908 P14138 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
EEA1 early endosome antigen 1 8411 Q15075 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ELAVL1 ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) 1994 Q15717 IP; Protein microarray
Abdelmohsen K , et al. 2009
ENC1 ectodermal-neural cortex 1 (with BTB domain) 8507 O14682 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
Erag ChIP
Chen Z , et al. 2011
ETV3 ets variant 3 2117 P41162 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
FAM189A1 family with sequence similarity 189, member A1 23359 O60320 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
FAM81A family with sequence similarity 81 member A 145773 Q8TBF8 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
FOXN3 forkhead box N3 1112 O00409 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
FOXP1 forkhead box P1 27086 Q9H334 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
FOXP2 forkhead box P2 93986 O15409 IP; LC-MS/MS
Huttlin EL , et al. 2015
FOXP3 Forkhead box protein P3 50943 Q9BZS1 IP; LC-MS/MS
Huttlin EL , et al. 2015
FRMD3 FERM domain containing 3 257019 A2A2Y4 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GAB1 GRB2-associated binding protein 1 2549 Q13480 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GABRB2 Gamma-aminobutyric acid receptor subunit beta-2 2561 P47870 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GALNT18 polypeptide N-acetylgalactosaminyltransferase 18 374378 Q6P9A2 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GAP43 growth associated protein 43 2596 P17677 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GATAD2B GATA zinc finger domain containing 2B 57459 Q8WXI9 IP/WB; GST; Y2H
Chokas AL , et al. 2010
GBE1 glucan (1,4-alpha-), branching enzyme 1 NM_000158 Q04446 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GDF3 growth differentiation factor 3 9573 Q9NR23 GST; ChIP
Gabut M , et al. 2011
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B 2904 Q13224 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GRM7 glutamate receptor, metabotropic 7 2917 Q14831 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
GYG2 glycogenin 2 8908 O15488 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
HS3ST1 heparan sulfate (glucosamine) 3-O-sulfotransferase 1 9957 O14792 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
IFI44 Interferon-induced protein 44 10561 Q8TCB0 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
IGFBP7 insulin-like growth factor binding protein 7 3490 Q16270 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
IL3RA interleukin 3 receptor, alpha (low affinity) 3563 P26951 Y2H
Wang J , et al. 2011
ITPKB inositol-trisphosphate 3-kinase B 3707 P27987 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 3759 P63252 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
KHDRBS3 KH domain containing, RNA binding, signal transduction associated 3 10656 O75525 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
KIAA1984 Coiled-coil domain-containing protein 183 84960 Q5T5S1-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
KREMEN1 kringle containing transmembrane protein 1 83999 Q96MU8 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
L3MBTL4 l(3)mbt-like 4 (Drosophila) 91133 Q8NA19 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
LIMCH1 LIM and calponin homology domains 1 22998 Q9UPQ0 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1 26018 Q96JA1 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
LRRTM2 leucine rich repeat transmembrane neuronal 2 26045 O43300 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MAML3 mastermind-like 3 (Drosophila) 55534 Q96JK9 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MAST4 microtubule associated serine/threonine kinase family member 4 375449 O15021 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MBNL1 muscleblind-like splicing regulator 1 4154 Q9NR56 IP/WB
Han H , et al. 2013
MBNL2 muscleblind-like splicing regulator 2 10150 Q5VZF2 IP/WB
Han H , et al. 2013
MCTP2 multiple C2 domains, transmembrane 2 55784 Q6DN12 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MEF2C myocyte enhancer factor 2C 4208 Q06413 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MGST1 microsomal glutathione S-transferase 1 4257 P10620 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MIAT myocardial infarction associated transcript (non-protein coding) 440823 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MIR1-1 microRNA 1-1 406904 N/A IP/WB
Datta J , et al. 2008
MREG melanoregulin 55686 Q8N565 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MTA1 metastasis associated 1 9112 Q13330 IP/WB; GST; Y2H
Chokas AL , et al. 2010
MTSS1 metastasis suppressor 1 9788 O43312 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
MYC v-myc myelocytomatosis viral oncogene homolog (avian) 4609 P01106 IP/WB
Agrawal P , et al. 2010
MYOF myoferlin 26509 Q9NZM1 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
NANOG Nanog homeobox 79923 Q9H9S0 GST; ChIP
Gabut M , et al. 2011
NCOR2 nuclear receptor co-repressor 2 20602 Q9WU42 IP/WB
Jepsen K , et al. 2008
NFIA nuclear factor I/A 4774 Q12857 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
NLGN3 neuroligin 3 54413 D3DVV1 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
NR5A2 nuclear receptor subfamily 5, group A, member 2 2494 B4E2P3 GST; ChIP
Gabut M , et al. 2011
NRG2 neuregulin 2 9542 F5GZS7 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
NTM neurotrimin 50863 Q9P121 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
PACRG PARK2 co-regulated 135138 Q96M98 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
POC1B POC1 centriolar protein homolog B (Chlamydomonas) 282809 G3V1X0 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
PODXL podocalyxin-like 5420 O00592 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
PPP1R3B protein phosphatase 1, regulatory subunit 3B 79660 Q86XI6 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
PRDM1 PR domain zinc finger protein 1 639 O75626 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
PTGR1 prostaglandin reductase 1 22949 Q14914 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 11228 Q8NHQ8 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SDK1 sidekick cell adhesion molecule 1 221935 Q7Z5N4 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SHISA9 shisa family member 9 729993 B4DS77 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4 8671 Q9Y6R1 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SMOC2 SPARC related modular calcium binding 2 64094 Q9H3U7 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SMYD3 SET and MYND domain containing 3 64754 Q9H7B4 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SNRNP70 small nuclear ribonucleoprotein 70kDa (U1) 6625 P08621 IP; LC-MS/MS
Huttlin EL , et al. 2015
SNTB1 syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) 6641 Q13884 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SORL1 sortilin-related receptor, L(DLR class) A repeats containing 6653 Q92673 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SOX9 SRY (sex determining region Y)-box 9 6662 P48436 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SPARCL1 SPARC-like 1 (hevin) 8404 Q14515 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SPRY2 sprouty homolog 2 (Drosophila) 10253 O43597 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SRPX sushi-repeat containing protein, X-linked 8406 B3KWP8 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 8128 Q92186 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
SUMO2 SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) 6613 P61956 LC-MS/MS
Tatham MH , et al. 2011
TENM1 teneurin transmembrane protein 1 10178 Q9UKZ4 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
TENM2 teneurin transmembrane protein 2 57451 Q9NT68 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 7048 P37173 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
TIMP4 TIMP metallopeptidase inhibitor 4 7079 Q99727 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
TMEM132E transmembrane protein 132E 124842 Q6IEE7 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
TMTC2 transmembrane and tetratricopeptide repeat containing 2 160335 Q8N394 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
UTRN utrophin 7402 P46939 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
WWC2 WW and C2 domain containing 2 80014 Q6AWC2 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
XYLT1 xylosyltransferase I 64131 Q86Y38 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ZIC3 Zic family member 3 7547 O60481 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
ZNF385D zinc finger protein 385D 79750 Q9H6B1 ChIP-Seq; RNA-Seq
Araujo DJ , et al. 2015
Acyp2 acylphosphatase 2, muscle type 75572 P56375 ChIP
Tang B , et al. 2012
Alms1 Alstrom syndrome 1 236266 Q8K4E0 ChIP
Tang B , et al. 2012
Bcl11b B cell leukemia/lymphoma 11B 58208 Q99PV8 ChIP
Tang B , et al. 2012
DAB1 disabled 1 13131 P97318 in situ hybridization
Palmesino E , et al. 2010
Dnaaf2 dynein, axonemal assembly factor 2 109065 Q8BPI1 ChIP
Tang B , et al. 2012
Etfdh electron transferring flavoprotein, dehydrogenase 66841 Q921G7 ChIP
Tang B , et al. 2012
FOXP1 forkhead box P1 108655 P58462 IP/WB
Li S , et al. 2004
FOXP2 forkhead box P2 114142 P58463 IP/WB
Li S , et al. 2004
FOXP4 forkhead box P4 74123 Q9DBY0 IP/WB
Li S , et al. 2004
Gm5631 solute carrier family 22, member 28 434674 B2RT89 ChIP
Tang B , et al. 2012
H13 histocompatibility 13 14950 Q9D8V0 ChIP
Tang B , et al. 2012
Hist1h1a histone cluster 1, H1a 80838 P43275 ChIP
Tang B , et al. 2012
Hist1h2ab histone cluster 1, H2ab 319172 P22752 ChIP
Tang B , et al. 2012
Hist1h3a histone cluster 1, H3a 360198 P68433 ChIP
Tang B , et al. 2012
Hist1h3b histone cluster 1, H3b 319150 P84228 ChIP
Tang B , et al. 2012
Hist1h4a histone cluster 1, H4a 326619 P62806 ChIP
Tang B , et al. 2012
Hist1h4b histone cluster 1, H4b 326620 P62806 ChIP
Tang B , et al. 2012
HTT huntingtin 15194 P42859 ChIP
Tang B , et al. 2012
Igfbp7 insulin-like growth factor binding protein 7 29817 Q61581 ChIP
Tang B , et al. 2012
Ldlr low density lipoprotein receptor 16835 P35951 ChIP
Tang B , et al. 2012
Mcts2 malignant T cell amplified sequence 2 66405 Q9CQ21 ChIP
Tang B , et al. 2012
Mgat2 mannoside acetylglucosaminyltransferase 2 217664 Q921V5 ChIP
Tang B , et al. 2012
MIR34A microRNA 34a 723848 N/A Luciferase reporter assay; IP/WB
Rao DS , et al. 2010
NKX2-5 NK2 homeobox 5 18091 P42582 ChIP
Zhang Y , et al. 2010
Pcsk2 proprotein convertase subtilisin/kexin type 2 18549 P21661 ChIP
Tang B , et al. 2012
PDPN podoplanin 14726 Q62011 ChIP
Shu W , et al. 2007
PITX3 paired-like homeodomain transcription factor 3 18742 O35160 ChIP
Konstantoulas CJ , et al. 2010
Pten phosphatase and tensin homolog 19211 O08586 ChIP
Tang B , et al. 2012
Rlf rearranged L-myc fusion sequence 109263 Q922U7 ChIP
Tang B , et al. 2012
Rpl36a ribosomal protein L36A-like 66483 P83882 ChIP
Tang B , et al. 2012
Rxfp1 relaxin/insulin-like family peptide receptor 1 381489 Q6R6I7 ChIP
Tang B , et al. 2012
Tmem125 transmembrane protein 125 230678 Q8CHQ6 ChIP
Tang B , et al. 2012
Tmx4 thioredoxin-related transmembrane protein 4 52837 Q8C0L0 ChIP
Tang B , et al. 2012
Wdr65 WD repeat domain 65 68625 Q9D180 ChIP
Tang B , et al. 2012
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 305897 D3Z9H7 IP/WB
Bai S and Kerppola TK 2011
MIR9 microRNA mir-9-1 777892 N/A Luciferase reporter assay; IP/WB
Otaegi G , et al. 2011

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