AutismKB 2.0

Evidence Details for FLII


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Basic Information Top
Gene Symbol:FLII ( FLI,FLIL,Fli1,MGC39265 )
Gene Full Name: flightless I homolog (Drosophila)
Band: 17p11.2
Quick LinksEntrez ID:2314; OMIM: 600362; Uniprot ID:FLII_HUMAN; ENSEMBL ID: ENSG00000177731; HGNC ID: 3750
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FLII|2314|nucleotide
ATGGAGGCCACCGGGGTGCTGCCGTTCGTGCGTGGCGTGGACCTCAGCGGCAACGACTTCAAGGGCGGCTACTTCCCTGAGAATGTCAAGGCCATGACCAGCCTG
CGGTGGCTGAAGCTGAACCGCACTGGCCTCTGCTACCTGCCCGAGGAGCTGGCCGCCCTGCAGAAGCTGGAACACTTGTCTGTGAGCCACAACAACCTGACCACG
CTTCATGGGGAGCTGTCCAGCCTGCCATCGCTGCGCGCCATCGTGGCCCGAGCCAACAGTCTGAAGAATTCCGGAGTCCCCGATGACATCTTCAAGCTAGATGAT
CTCTCAGTCCTGGACTTGAGCCACAACCAGCTGACAGAGTGCCCGCGGGAGCTGGAGAACGCCAAGAACATGCTGGTGCTGAACCTCAGCCACAACAGCATCGAC
ACCATCCCCAACCAGCTCTTCATCAACCTCACTGACCTACTATACCTGGACCTCAGCGAGAACCGCCTGGAGAGCCTGCCCCCGCAGATGCGCCGCCTGGTGCAC
CTGCAGACGCTCGTGCTCAATGGAAACCCCCTGCTGCATGCACAGCTCCGGCAGCTCCCAGCGATGACGGCCCTGCAGACCCTGCACCTGCGGAGCACCCAGCGC
ACCCAGAGCAACCTGCCCACCAGCCTGGAGGGTCTGAGCAACCTCGCAGACGTGGATCTGTCCTGCAATGACCTGACACGGGTGCCCGAGTGTCTGTACACCCTC
CCCAGCCTGCGCCGCCTCAACCTCAGCAGCAACCAGATCACGGAGCTGTCCCTGTGCATAGACCAGTGGGTGCACGTGGAAACTCTGAACCTGTCCCGAAATCAG
CTCACCTCACTGCCCTCAGCCATTTGCAAGCTGAGCAAGCTGAAGAAGCTGTACCTGAATTCCAACAAGCTGGACTTTGACGGGCTGCCCTCAGGCATTGGCAAG
CTCACCAACCTGGAAGAGTTCATGGCTGCCAACAACAACCTGGAGCTGGTCCCTGAAAGTCTCTGCAGGTGCCCAAAGCTGAGGAAACTTGTCCTGAACAAGAAC
CACCTGGTGACCCTCCCAGAAGCCATCCATTTCCTGACGGAGATCGAGGTCCTGGATGTGCGGGAGAACCCCAACCTGGTCATGCCGCCCAAGCCCGCAGACCGT
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>FLII|2314|protein
MEATGVLPFVRGVDLSGNDFKGGYFPENVKAMTSLRWLKLNRTGLCYLPEELAALQKLEHLSVSHNNLTTLHGELSSLPSLRAIVARANSLKNSGVPDDIFKLDD
LSVLDLSHNQLTECPRELENAKNMLVLNLSHNSIDTIPNQLFINLTDLLYLDLSENRLESLPPQMRRLVHLQTLVLNGNPLLHAQLRQLPAMTALQTLHLRSTQR
TQSNLPTSLEGLSNLADVDLSCNDLTRVPECLYTLPSLRRLNLSSNQITELSLCIDQWVHVETLNLSRNQLTSLPSAICKLSKLKKLYLNSNKLDFDGLPSGIGK
LTNLEEFMAANNNLELVPESLCRCPKLRKLVLNKNHLVTLPEAIHFLTEIEVLDVRENPNLVMPPKPADRAAEWYNIDFSLQNQLRLAGASPATVAAAAAAGSGP
KDPMARKMRLRRRKDSAQDDQAKQVLKGMSDVAQEKNKKQEESADARAPSGKVRRWDQGLEKPRLDYSEFFTEDVGQLPGLTIWQIENFVPVLVEEAFHGKFYEA
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 0 (1) 0 (0) 3 (7)
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
Potocki, 2007 - aCGHautism - - - - 1 - 1
Nakamine, 2008 Costa Rica SNP microarrayautsim - - - - 1 - 1
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bremer, 2011 - aCGHASD - - - - 223 - 223
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

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  (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