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