AutismKB 2.0

Evidence Details for NARF


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Basic Information Top
Gene Symbol:NARF ( DKFZp434G0420,FLJ10067,IOP2 )
Gene Full Name: nuclear prelamin A recognition factor
Band: 17q25.3
Quick LinksEntrez ID:26502; OMIM: 605349; Uniprot ID:NARF_HUMAN; ENSEMBL ID: ENSG00000141562; HGNC ID: 29916
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NARF|26502|nucleotide
ATGACTGCAGAGGAAGGAGTCCAACTTTCCCAGCAAAATGCCAAGGACTTCTTCCGCGTTCTGAACCTTAACAAGAAATGTGATACCTCAAAGCACAAAGTGCTG
GTAGTGTCTGTGTGTCCTCAATCTTTGCCTTATTTTGCTGCTAAATTCAACCTCAGTGTAACTGATGCATCCAGAAGACTCTGTGGTTTCCTCAAAAGTCTTGGG
GTGCACTATGTATTTGATACGACGATAGCTGCGGATTTTAGTATCCTGGAGAGTCAAAAAGAATTCGTGCGTCGCTATCGCCAGCACAGTGAGGAGGAACGCACC
CTGCCCATGCTGACCTCTGCCTGTCCTGGCTGGGTCCGATACGCCGAGCGGGTGCTGGGTCGCCCCATCACTGCCCACCTCTGCACCGCCAAGTCCCCCCAGCAG
GTCATGGGCTCTTTGGTGAAGGATTATTTCGCCAGACAGCAGAACCTGTCTCCAGAGAAGATTTTCCACGTCATTGTGGCCCCTTGTTATGACAAGAAGCTGGAG
GCTCTTCAGGAAAGCCTTCCCCCTGCTTTGCATGGCTCCCGGGGCGCTGACTGCGTGTTAACATCAGGTGAAATTGCTCAAATAATGGAGCAAGGTGACCTCTCA
GTGAGAGATGCTGCCGTCGACACTCTGTTTGGAGACTTGAAGGAGGACAAAGTGACGCGTCATGATGGAGCCAGCTCAGACGGGCACCTGGCACACATCTTCAGA
CATGCGGCCAAGGAGCTGTTCAACGAGGATGTGGAGGAGGTCACTTACCGAGCCCTGAGAAACAAAGACTTCCAAGAGGTCACCCTTGAGAAGAACGGAGAGGTG
GTGTTACGCTTTGCTGCAGCCTATGGCTTTCGAAACATCCAGAACATGATCCTGAAGCTTAAGAAGGGCAAGTTCCCATTCCACTTTGTGGAGGTCCTCGCCTGT
GCTGGAGGATGCTTAAATGGCAGAGGCCAAGCCCAGACTCCAGACGGACATGCGGATAAGGCCCTGCTGCGGCAGATGGAAGGCATTTACGCTGACATCCCTGTG
CGGCGTCCGGAGTCCAGTGCACACGTGCAGGAGCTGTACCAGGAGTGGCTGGAGGGGATCAACTCCCCCAAGGCCCGAGAGGTGCTGCATACCACGTACCAGAGC
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>NARF|26502|protein
MTAEEGVQLSQQNAKDFFRVLNLNKKCDTSKHKVLVVSVCPQSLPYFAAKFNLSVTDASRRLCGFLKSLGVHYVFDTTIAADFSILESQKEFVRRYRQHSEEERT
LPMLTSACPGWVRYAERVLGRPITAHLCTAKSPQQVMGSLVKDYFARQQNLSPEKIFHVIVAPCYDKKLEALQESLPPALHGSRGADCVLTSGEIAQIMEQGDLS
VRDAAVDTLFGDLKEDKVTRHDGASSDGHLAHIFRHAAKELFNEDVEEVTYRALRNKDFQEVTLEKNGEVVLRFAAAYGFRNIQNMILKLKKGKFPFHFVEVLAC
AGGCLNGRGQAQTPDGHADKALLRQMEGIYADIPVRRPESSAHVQELYQEWLEGINSPKAREVLHTTYQSQERGTHSLDIKW

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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
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