AutismKB 2.0

Evidence Details for FXR1


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Basic Information Top
Gene Symbol:FXR1 ( FXR1P )
Gene Full Name: fragile X mental retardation, autosomal homolog 1
Band: 3q26.33
Quick LinksEntrez 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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>FXR1|8087|protein
MAELTVEVRGSNGAFYKGFIKDVHEDSLTVVFENNWQPERQVPFNEVRLPPPPDIKKEISEGDEVEVYSRANDQEPCGWWLAKVRMMKGEFYVIEYAACDATYNE
IVTFERLRPVNQNKTVKKNTFFKCTVDVPEDLREACANENAHKDFKKAVGACRIFYHPETTQLMILSASEATVKRVNILSDMHLRSIRTKLMLMSRNEEATKHLE
CTKQLAAAFHEEFVVREDLMGLAIGTHGSNIQQARKVPGVTAIELDEDTGTFRIYGESADAVKKARGFLEFVEDFIQVPRNLVGKVIGKNGKVIQEIVDKSGVVR
VRIEGDNENKLPREDGMVPFVFVGTKESIGNVQVLLEYHIAYLKEVEQLRMERLQIDEQLRQIGSRSYSGRGRGRRGPNYTSGYGTNSELSNPSETESERKDELS
DWSLAGEDDRDSRHQRDSRRRPGGRGRSVSGGRGRGGPRGGKSSISSVLKDPDSNPYSLLDNTESDQTADTDASESHHSTNRRRRSRRRRTDEDAVLMDGMTESD
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
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 Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact 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.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018