Gene Gene information from NCBI Gene database.
Entrez ID 27086
Gene name Forkhead box P1
Gene symbol FOXP1
Synonyms (NCBI Gene)
12CC4HSPC215MFHQRF1hFKH1B
Chromosome 3
Chromosome location 3p13
Summary 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. F
SNPs SNP information provided by dbSNP.
62
SNP ID Visualize variation Clinical significance Consequence
rs112795301 G>A Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs200355554 G>C Conflicting-interpretations-of-pathogenicity, likely-benign Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs398124429 ->CTGCTCTGCATGTTTT Pathogenic Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs532329866 G>A Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs587777855 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
1587
miRTarBase ID miRNA Experiments Reference
MIRT003088 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT001054 hsa-miR-1-3p qRT-PCRWestern blot 18818206
MIRT001054 hsa-miR-1-3p Luciferase reporter assay 18818206
MIRT001054 hsa-miR-1-3p Luciferase reporter assayWestern blot 18593903
MIRT001054 hsa-miR-1-3p Luciferase reporter assayWestern blot 18593903
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ESR1 Activation 21901488
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001046 Function Core promoter sequence-specific DNA binding IDA 28218735
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605515 3823 ENSG00000114861
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H334
Protein name Forkhead box protein P1 (Mac-1-regulated forkhead) (MFH)
Protein function Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epith
PDB 2KIU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16159 FOXP-CC 302 370 FOXP coiled-coil domain Domain
PF00250 Forkhead 464 545 Forkhead domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 8 is specifically expressed in embryonic stem cells. {ECO:0000269|PubMed:21924763}.
Sequence
MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQ
ALQVARQLLLQQQQQQQVSGLKSPKRNDKQPALQVPVSVAMMTPQVITPQQMQQILQQQV
LSPQQLQVLLQQQQALMLQQQQLQEFYKKQQEQLQLQLLQQQHAGKQPKEQQQVATQQLA
FQQQLLQMQQLQQQHLLSLQRQGLLTIQPGQPALPLQPLAQGMIPTELQQLWKEVTSAHT
AEETTGNNHSSLDLTTTCVSSSAPSKTSLIMNPHASTNGQLSVHTPKRESLSHEEHPHSH
PLYGHGVCKWPGCEAVCEDFQSFLKHLNSEHALDDRSTAQCRVQMQVVQQLELQLAKDKE
RLQAMMTHLH
VKSTEPKAAPQPLNLVSSVTLSKSASEASPQSLPHTPTTPTAPLTPVTQG
PSVITTTSMHTVGPIRRRYSDKYNVPISSADIAQNQEFYKNAEVRPPFTYASLIRQAILE
SPEKQLTLNEIYNWFTRMFAYFRRNAATWKNAVRHNLSLHKCFVRVENVKGAVWTVDEVE
FQKRR
PQKISGNPSLIKNMQSSHAYCTPLNAALQASMAENSIPLYTTASMGNPTLGNLAS
AIREELNGAMEHTNSNESDSSPGRSPMQAVHPVHVKEEPLDPEEAEGPLSLVTTANHSPD
FDHDRDYEDEPVNEDME
Sequence length 677
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MicroRNAs in cancer   Transcriptional regulation of pluripotent stem cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
128
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute myeloid leukemia Likely pathogenic rs2545119133 RCV005931099
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anterior creases of earlobe Likely pathogenic rs1057518926 RCV000414948
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Likely pathogenic; Pathogenic rs1057518999, rs1559619762 RCV000414900
RCV000714977
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar vermis hypoplasia Pathogenic rs1553709881 RCV000779638
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic valve atresia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17897302, 21391972, 21962897, 27588474
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28466777
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer CTD_human_DG 24121790
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 26383589
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29934982, 30409062
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 25275049
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27588474
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 15709173, 15944719, 16252263, 16636337, 17550867, 18487996, 19432679, 19487025, 22368156, 23884370, 24416450, 25712539, 26729899, 26787899, 27056922
View all (2 more)
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 25043849
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 31556752
★☆☆☆☆
Found in Text Mining only