AutismKB 2.0

Evidence Details for FRYL


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Basic Information Top
Gene Symbol:FRYL ( DKFZp686E205,FLJ16177,KIAA0826 )
Gene Full Name: FRY-like
Band: 4p11
Quick LinksEntrez ID:285527; OMIM: NA; Uniprot ID:FRYL_HUMAN; ENSEMBL ID: ENSG00000075539; HGNC ID: 29127
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FRYL|285527|nucleotide
ATGTCAAACATTACGATTGACCCAGATGTCAAACCTGGTGAATATGTCATCAAGAGCCTCTTTGCAGAATTTGCTGTTCAAGCTGAAAAGAAAATTGAAGTTGTA
ATGGCCGAACCCTTGGAGAAGCTATTGTCCAGATCTCTTCAGAGGGGTGAAGATCTTCAGTTTGATCAGTTGATAAGCTCTATGAGCTCAGTAGCAGAGCACTGT
CTCCCTTCCTTACTTCGCACCTTGTTTGACTGGTACAGACGCCAAAATGGAACGGAAGATGAATCTTATGAATATAGGCCTCGGTCTAGCACAAAGTCTAAGGGG
GATGAACAGCAACGTGAAAGAGATTATCTTCTTGAAAGGAGGGACTTAGCAGTAGACTTCATTTTTTGTTTAGTTTTAGTTGAAGTTCTAAAGCAGATTCCTGTT
CATCCTGTACCCGATCCCTTAGTTCATGAAGTTCTAAACTTAGCTTTTAAGCACTTTAAACATAAGGAAGGATATTCAGGAACCAACACTGGGAATGTGCATATT
ATTGCTGATTTATATGCAGAGGTGATAGGGGTTCTTGCCCAATCAAAGTTTCAGGCTGTAAGGAAGAAGTTTGTGACAGAATTAAAAGAACTGCGACAAAAGGAA
CAAAGCCCACATGTGGTACAAAGTGTCATCAGCTTAATAATGGGAATGAAATTTTTTCGAGTAAAAATGTATCCTGTAGAAGATTTTGAAGCATCATTTCAATTT
ATGCAGGAATGTGCTCAGTATTTCTTAGAAGTGAAAGATAAAGATATAAAACATGCACTTGCTGGTTTATTTGTGGAGATTCTTATCCCTGTAGCTGCTGCTGTT
AAAAATGAAGTGAATGTTCCCTGTTTGAAAAATTTTGTGGAGATGCTTTATCAGACTACTTTTGAACTGAGCTCGAGAAAGAAGCATTCATTGGCTTTATATCCA
CTAATTACCTGCCTTTTATGTGTCAGTCAGAAACAATTTTTTTTAAATAACTGGCATATTTTCCTACAGAACTGTTTGTCACATTTAAAGAATAAAGATCCGAAA
ATGTCTCGAGTTGCACTGGAATCTTTGTATAGATTATTGTGGGTTTATGTAATTAGAATAAAATGTGAAAGCAACACTGTAACTCAAAGTCGTCTTATGAGCATA
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>FRYL|285527|protein
MSNITIDPDVKPGEYVIKSLFAEFAVQAEKKIEVVMAEPLEKLLSRSLQRGEDLQFDQLISSMSSVAEHCLPSLLRTLFDWYRRQNGTEDESYEYRPRSSTKSKG
DEQQRERDYLLERRDLAVDFIFCLVLVEVLKQIPVHPVPDPLVHEVLNLAFKHFKHKEGYSGTNTGNVHIIADLYAEVIGVLAQSKFQAVRKKFVTELKELRQKE
QSPHVVQSVISLIMGMKFFRVKMYPVEDFEASFQFMQECAQYFLEVKDKDIKHALAGLFVEILIPVAAAVKNEVNVPCLKNFVEMLYQTTFELSSRKKHSLALYP
LITCLLCVSQKQFFLNNWHIFLQNCLSHLKNKDPKMSRVALESLYRLLWVYVIRIKCESNTVTQSRLMSIVSALFPKGSRSVVPRDTPLNIFVKIIQFIAQERLD
FAMKEIIFDLLSVGKSTKTFTINPERMNIGLRVFLVIADSLQQKDGEPPMPTTGVILPSGNTLRVKKIFLNKTLTDEEAKVIGMSVYYPQVRKALDSILRHLDKE
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sabaratnam, 2000 - FISHautism - - - - 1 - 1
Linkage Studies Top