AutismKB 2.0

Evidence Details for NARFL


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Basic Information Top
Gene Symbol:NARFL ( FLJ21988,HPRN,IOP1,LET1L,PRN )
Gene Full Name: nuclear prelamin A recognition factor-like
Band: 16p13.3
Quick LinksEntrez ID:64428; OMIM: 611118; Uniprot ID:NARFL_HUMAN; ENSEMBL ID: ENSG00000103245; HGNC ID: 14179
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NARFL|64428|nucleotide
ATGGCGTCGCCCTTCAGCGGGGCGCTGCAGCTGACGGACCTGGATGACTTCATCGGGCCGTCTCAGGAGTGCATCAAGCCTGTCAAAGTGGAAAAAAGGGCGGGA
AGTGGCGTGGCCAAGATTCGCATTGAAGATGACGGGAGCTACTTCCAAATTAACCAAGACGGCGGGACCCGGAGGCTGGAGAAGGCCAAGGTCTCGCTAAACGAC
TGCCTGGCGTGCAGCGGCTGCATCACCTCCGCAGAGACCGTGCTTATCACCCAGCAGAGCCACGAGGAGCTGAAGAAGGTTCTAGATGCTAACAAGATGGCGGCA
CCCAGTCAGCAGAGGCTGGTTGTAGTTTCGGTCTCACCACAGTCTAGAGCATCGCTGGCTGCACGGTTTCAGCTGAATCCTACAGATACTGCCAGGAAATTAACC
TCATTCTTTAAAAAAATAGGGGTGCACTTCGTCTTCGACACCGCCTTCTCAAGGCACTTCAGCCTCCTGGAGAGCCAGCGAGAGTTTGTGCGGCGATTCCGAGGA
CAGGCCGACTGCAGACAGGCGCTGCCCCTGCTGGCCTCTGCCTGCCCAGGCTGGATCTGCTATGCCGAGAAGACTCACGGCAGCTTCATCCTCCCCCACATCAGC
ACCGCCCGGTCCCCGCAGCAGGTCATGGGCTCCCTGGTCAAGGACTTCTTCGCCCAGCAGCAGCACTTGACCCCTGACAAGATCTACCACGTCACAGTGATGCCC
TGCTATGACAAAAAGCTGGAAGCCTCCAGACCCGACTTTTTCAACCAGGAGCACCAGACACGGGATGTGGACTGTGTCCTCACAACAGGAGAAGTTTTCAGGTTG
CTGGAGGAAGAGGGCGTCTCCCTCCCCGACCTGGAACCAGCCCCTCTGGACAGCCTGTGCAGCGGTGCCTCTGCAGAGGAGCCCACCAGCCATCGGGGAGGGGGC
TCGGGGGGCTACCTGGAGCACGTGTTCCGGCACGCGGCCCGAGAGCTCTTTGGAATCCATGTGGCTGAGGTTACCTACAAACCCCTGAGGAACAAAGACTTCCAG
GAGGTGACACTGGAGAAGGAGGGCCAGGTGCTGCTGCACTTCGCAATGGCGTACGGCTTCCGCAACATCCAGAACCTGGTGCAGAGGCTCAAACGAGGGCGCTGC
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>NARFL|64428|protein
MASPFSGALQLTDLDDFIGPSQECIKPVKVEKRAGSGVAKIRIEDDGSYFQINQDGGTRRLEKAKVSLNDCLACSGCITSAETVLITQQSHEELKKVLDANKMAA
PSQQRLVVVSVSPQSRASLAARFQLNPTDTARKLTSFFKKIGVHFVFDTAFSRHFSLLESQREFVRRFRGQADCRQALPLLASACPGWICYAEKTHGSFILPHIS
TARSPQQVMGSLVKDFFAQQQHLTPDKIYHVTVMPCYDKKLEASRPDFFNQEHQTRDVDCVLTTGEVFRLLEEEGVSLPDLEPAPLDSLCSGASAEEPTSHRGGG
SGGYLEHVFRHAARELFGIHVAEVTYKPLRNKDFQEVTLEKEGQVLLHFAMAYGFRNIQNLVQRLKRGRCPYHYVEVMACPSGCLNGGGQLQAPDRPSRELLQHV
ERLYGMVRAEAPEDAPGVQELYTHWLQGTDSECAGRLLHTQYHAVEKASTGLGIRW
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
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
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
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
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