Evidence Details for FOXP1
Basic Information Top
| Gene Symbol: | FOXP1 ( 12CC4,FLJ23741,MGC12942,MGC88572,MGC99551,QRF1,hFKH1B ) |
|---|---|
| Gene Full Name: | forkhead box P1 |
| Band: | 3p13 |
| Quick Links | Entrez ID:27086; OMIM: 605515; Uniprot ID:FOXP1_HUMAN; ENSEMBL ID: ENSG00000114861; HGNC ID: 3823 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>FOXP1|27086|nucleotide
ATGATGCAAGAATCTGGGACTGAGACAAAAAGTAACGGTTCAGCCATCCAGAATGGGTCGGGCGGCAGCAACCACTTACTAGAGTGCGGCGGTCTTCGGGAGGGG
CGGTCCAACGGAGAGACGCCGGCCGTGGACATCGGGGCAGCTGACCTCGCCCACGCCCAGCAGCAGCAGCAACAGTGGCATCTCATAAACCATCAGCCCTCTAGG
AGTCCCAGCAGTTGGCTTAAGAGACTAATTTCAAGCCCTTGGGAGTTGGAAGTCCTGCAGGTCCCCTTGTGGGGAGCAGTTGCTGAGACGAAGATGAGTGGACCT
GTGTGTCAGCCTAACCCTTCCCCATTTTGA
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ATGATGCAAGAATCTGGGACTGAGACAAAAAGTAACGGTTCAGCCATCCAGAATGGGTCGGGCGGCAGCAACCACTTACTAGAGTGCGGCGGTCTTCGGGAGGGG
CGGTCCAACGGAGAGACGCCGGCCGTGGACATCGGGGCAGCTGACCTCGCCCACGCCCAGCAGCAGCAGCAACAGTGGCATCTCATAAACCATCAGCCCTCTAGG
AGTCCCAGCAGTTGGCTTAAGAGACTAATTTCAAGCCCTTGGGAGTTGGAAGTCCTGCAGGTCCCCTTGTGGGGAGCAGTTGCTGAGACGAAGATGAGTGGACCT
GTGTGTCAGCCTAACCCTTCCCCATTTTGA
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>FOXP1|27086|protein
MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQWHLINHQPSRSPSSWLKRLISSPWELEVLQVPLWGAVAETKMSGP
VCQPNPSPF
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MMQESGTETKSNGSAIQNGSGGSNHLLECGGLREGRSNGETPAVDIGAADLAHAQQQQQQWHLINHQPSRSPSSWLKRLISSPWELEVLQVPLWGAVAETKMSGP
VCQPNPSPF
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (4) | 0 (0) | 1 (2) | 3 (3) | 42 (12) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | Mental retardation with language impairment and autistic features (613670) |
| Description | Autosomal dominant non-syndromic ID and ASD; disrupted in two patients with ID and autism/ASD |
| Reference(s) | 20950788; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top