Evidence Details for FXR1
Basic Information Top
| Gene Symbol: | FXR1 ( FXR1P ) |
|---|---|
| Gene Full Name: | fragile X mental retardation, autosomal homolog 1 |
| Band: | 3q26.33 |
| Quick Links | Entrez ID:8087; OMIM: 600819; Uniprot ID:FXR1_HUMAN; ENSEMBL ID: ENSG00000114416; HGNC ID: 4023 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>FXR1|8087|nucleotide
ATGGCGGAGCTGACGGTGGAGGTTCGCGGCTCTAACGGGGCTTTCTACAAGGGATTTATCAAAGATGTTCATGAAGACTCCCTTACAGTTGTTTTTGAAAATAAT
TGGCAACCAGAACGCCAGGTTCCATTTAATGAAGTTAGATTACCACCACCACCTGATATAAAAAAAGAAATTAGTGAAGGAGATGAAGTAGAGGTATATTCAAGA
GCAAATGACCAAGAGCCATGTGGGTGGTGGTTGGCTAAAGTTCGGATGATGAAAGGAGAATTTTATGTCATTGAATATGCTGCTTGTGACGCTACTTACAATGAA
ATAGTCACATTTGAACGACTTCGGCCTGTCAATCAAAATAAAACTGTCAAAAAAAATACCTTCTTTAAATGCACAGTGGATGTTCCTGAGGATTTGAGAGAGGCG
TGTGCTAATGAAAATGCACATAAAGATTTTAAGAAAGCAGTAGGAGCATGCAGAATTTTTTACCATCCAGAAACAACACAGCTAATGATACTGTCTGCCAGTGAA
GCAACTGTGAAGAGAGTAAACATCTTAAGTGACATGCATTTGCGAAGTATTCGTACGAAGTTGATGCTTATGTCCAGAAATGAAGAGGCCACTAAGCATTTAGAA
TGCACAAAACAACTTGCAGCAGCTTTTCATGAGGAATTTGTTGTGAGAGAAGATTTAATGGGCCTGGCAATAGGAACACATGGTAGTAACATCCAGCAAGCTAGG
AAGGTTCCTGGAGTTACCGCCATTGAGCTAGATGAAGATACTGGAACATTCAGAATCTACGGAGAGAGTGCTGATGCTGTAAAAAAGGCTAGAGGTTTCTTGGAA
TTTGTGGAGGATTTTATTCAGGTTCCTAGGAATCTCGTTGGAAAAGTAATTGGAAAAAATGGCAAAGTTATTCAAGAAATAGTGGACAAATCTGGTGTGGTTCGA
GTGAGAATTGAAGGGGACAATGAAAATAAATTACCCAGAGAAGACGGTATGGTTCCATTTGTATTTGTTGGCACTAAAGAAAGCATTGGAAATGTGCAGGTTCTT
CTAGAGTATCATATTGCCTATCTAAAGGAAGTAGAACAGCTAAGAATGGAACGCCTACAGATTGATGAACAGCTGCGACAGATTGGTTCTAGGTCTTATAGCGGA
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ATGGCGGAGCTGACGGTGGAGGTTCGCGGCTCTAACGGGGCTTTCTACAAGGGATTTATCAAAGATGTTCATGAAGACTCCCTTACAGTTGTTTTTGAAAATAAT
TGGCAACCAGAACGCCAGGTTCCATTTAATGAAGTTAGATTACCACCACCACCTGATATAAAAAAAGAAATTAGTGAAGGAGATGAAGTAGAGGTATATTCAAGA
GCAAATGACCAAGAGCCATGTGGGTGGTGGTTGGCTAAAGTTCGGATGATGAAAGGAGAATTTTATGTCATTGAATATGCTGCTTGTGACGCTACTTACAATGAA
ATAGTCACATTTGAACGACTTCGGCCTGTCAATCAAAATAAAACTGTCAAAAAAAATACCTTCTTTAAATGCACAGTGGATGTTCCTGAGGATTTGAGAGAGGCG
TGTGCTAATGAAAATGCACATAAAGATTTTAAGAAAGCAGTAGGAGCATGCAGAATTTTTTACCATCCAGAAACAACACAGCTAATGATACTGTCTGCCAGTGAA
GCAACTGTGAAGAGAGTAAACATCTTAAGTGACATGCATTTGCGAAGTATTCGTACGAAGTTGATGCTTATGTCCAGAAATGAAGAGGCCACTAAGCATTTAGAA
TGCACAAAACAACTTGCAGCAGCTTTTCATGAGGAATTTGTTGTGAGAGAAGATTTAATGGGCCTGGCAATAGGAACACATGGTAGTAACATCCAGCAAGCTAGG
AAGGTTCCTGGAGTTACCGCCATTGAGCTAGATGAAGATACTGGAACATTCAGAATCTACGGAGAGAGTGCTGATGCTGTAAAAAAGGCTAGAGGTTTCTTGGAA
TTTGTGGAGGATTTTATTCAGGTTCCTAGGAATCTCGTTGGAAAAGTAATTGGAAAAAATGGCAAAGTTATTCAAGAAATAGTGGACAAATCTGGTGTGGTTCGA
GTGAGAATTGAAGGGGACAATGAAAATAAATTACCCAGAGAAGACGGTATGGTTCCATTTGTATTTGTTGGCACTAAAGAAAGCATTGGAAATGTGCAGGTTCTT
CTAGAGTATCATATTGCCTATCTAAAGGAAGTAGAACAGCTAAGAATGGAACGCCTACAGATTGATGAACAGCTGCGACAGATTGGTTCTAGGTCTTATAGCGGA
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>FXR1|8087|protein
MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNE
IVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLE
CTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVR
VRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELS
DWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESD
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MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNE
IVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLE
CTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVR
VRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELS
DWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESD
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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) | No | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Rehnstrom, 2008_1 | Finland | Sequenom iPLEX platform (Sequenom, San Diego,CA) | 97 | 118 (-) |  | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.