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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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