AutismKB 2.0

Evidence Details for NFIA


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Basic Information Top
Gene Symbol:NFIA ( DKFZp434L0422,DKFZp686J23256,FLJ39164,KIAA1439,NFI-L )
Gene Full Name: nuclear factor I/A
Band: 1p31.3
Quick LinksEntrez ID:4774; OMIM: 600727; Uniprot ID:NFIA_HUMAN; ENSEMBL ID: ENSG00000162599; HGNC ID: 7784
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFIA|4774|nucleotide
ATGTATTCTCCGCTCTGTCTCACCCAGGATGAATTTCATCCTTTCATCGAAGCACTTCTGCCCCACGTCCGAGCCTTTGCCTACACATGGTTCAACCTGCAGGCC
CGAAAACGAAAATACTTCAAAAAACATGAAAAGCGTATGTCAAAAGAAGAAGAGAGAGCCGTGAAGGATGAATTGCTAAGTGAAAAACCAGAGGTCAAGCAGAAG
TGGGCATCTCGACTTCTGGCAAAGTTGCGGAAAGATATCCGACCCGAATATCGAGAGGATTTTGTTCTTACAGTTACAGGGAAAAAACCTCCATGTTGTGTTCTT
TCCAACCCAGACCAGAAAGGCAAGATGCGAAGAATTGACTGCCTCCGCCAGGCAGATAAAGTCTGGAGGTTGGACCTTGTTATGGTGATTTTGTTTAAAGGTATT
CCGCTGGAAAGTACTGATGGCGAGCGCCTTGTAAAGTCCCCACAATGCTCTAATCCAGGGCTCTGTGTCCAACCCCATCACATAGGGGTTTCTGTTAAGGAACTC
GATTTATATTTGGCATACTTTGTGCATGCAGCAGATTCAAGTCAATCTGAAAGTCCCAGCCAGCCAAGTGACGCTGACATTAAGGACCAGCCAGAAAATGGACAT
TTGGGCTTCCAGGACAGTTTTGTCACATCAGGTGTTTTTAGTGTCACTGAGCTAGTAAGAGTGTCACAGACACCAATAGCTGCAGGAACTGGCCCAAATTTTTCT
CTCTCAGATTTGGAAAGTTCTTCATACTACAGCATGAGTCCAGGAGCAATGAGGAGGTCTTTACCCAGCACATCCTCTACGAGCTCCACAAAGCGCCTCAAGTCT
GTGGAGGATGAAATGGACAGTCCTGGTGAGGAGCCATTTTATACAGGCCAAGGGCGCTCCCCAGGAAGTGGCAGTCAGTCAAGTGGATGGCATGAAGTGGAGCCA
GGAATGCCATCTCCAACCACACTGAAGAAGTCGGAGAAGTCTGGTTTCAGCAGCCCCTCCCCTTCACAGACCTCCTCCCTGGGAACGGCGTTCACACAGCATCAC
CGACCTGTCATTACAGGACCCAGAGCAAGTCCGCATGCAACACCATCGACTCTTCATTTCCCGACATCACCCATTATCCAGCAGCCTGGGCCTTACTTCTCACAC
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>NFIA|4774|protein
MYSPLCLTQDEFHPFIEALLPHVRAFAYTWFNLQARKRKYFKKHEKRMSKEEERAVKDELLSEKPEVKQKWASRLLAKLRKDIRPEYREDFVLTVTGKKPPCCVL
SNPDQKGKMRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLVKSPQCSNPGLCVQPHHIGVSVKELDLYLAYFVHAADSSQSESPSQPSDADIKDQPENGH
LGFQDSFVTSGVFSVTELVRVSQTPIAAGTGPNFSLSDLESSSYYSMSPGAMRRSLPSTSSTSSTKRLKSVEDEMDSPGEEPFYTGQGRSPGSGSQSSGWHEVEP
GMPSPTTLKKSEKSGFSSPSPSQTSSLGTAFTQHHRPVITGPRASPHATPSTLHFPTSPIIQQPGPYFSHPAIRYHPQETLKEFVQLVCPDAGQQAGQVGFLNPN
GSSQGKVHNPFLPTPMLPPPPPPPMARPVPLPVPDTKPPTTSTEGGAASPTSPTYSTPSTSPANRFVSVGPRDPSFVNIPQQTQSWYLG
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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 (4) 0 (0) 0 (0) 0 (0) 2 (3) 0 (0) 0 (1) 0 (0) 20 (8)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Nord, 2011 US aCGH--ASD - - - - 41 367 408
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
Iossifov I, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
O'Roak BJ, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Doan RN, 2016 - ---ASD - - - - -
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