AutismKB 2.0

Evidence Details for C14orf21


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Basic Information Top
Gene Symbol:C14orf21 ( KIAA2021 )
Gene Full Name: chromosome 14 open reading frame 21
Band: 14q12
Quick LinksEntrez ID:161424; OMIM: NA; Uniprot ID:CN021_HUMAN; ENSEMBL ID: ENSG00000196943; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C14orf21|161424|nucleotide
ATGGGGCAGGGTCCGCGCTCTCCACACAAGGTGGGGCGCCGGTTCCCAGCTGGTGGCAAACGGGGGCGCGGGGCCAAGGGGTCGGGGCGCCCCTTACCAGGCCGT
AAGCGGCAACCCTGGCCGCCTCCGGATGGGCGCTCGGAGCCGGCTCCAGATTCGCACCCGCACCTGAGCCCGGAAGCTCTGGGATATTTCCGCCGGGCGCTGTCA
GCATTGAAAGAGGCTCCCGAGACTGGGGAAGAACGAGATCTGATGGTGCACAATATAATGAAGGAAGTAGAGACTCAGGCCCTAGCTTTGTCCACGAACAGGACT
GGCAGTGAGATGCTGCAGGAACTGTTGGGATTCAGTCCCTTGAAACCGCTTTGTCGCGTGTGGGCTGCTCTGCGCTCTAACTTGCGCACTGTGGCCTGTCACCGA
TGCGGGGTCCATGTATTACAAAGTGCTTTGCTACAGCTCCCTCGATTGCTGGGGAGTGCTGCAGAGGAGGAGGAGGAGGAGGAGGAGGATGGAAAGGATGGTCCC
ACGGAGACCCTGGAGGAGCTGGTCCTGGGACTAGCCGCTGAGGTGTGTGATGATTTTCTTGTCTACTGTGGAGACACACATGGCAGCTTCGTGGTCAGAACTCTG
CTTCAGGTGTTAGGAGGGACTATTCTGGAGTCTGAGAGAGCCAGGCCCCGTGGTTCCCAATCATCTGAAGCACAGAAGACCCCAGCTCAGGAATGTAAGCCAGCT
GATTTTGAAGTCCCTGAAACCTTTTTGAATCGCCTTCAGGACCTGAGCTCCTCCTTTCTGAAGGACATTGCAGTGTTTATCACTGATAAGATCTCCAGCTTCTGT
CTTCAAGTGGCTTTACAGGTTTTACACCGCAAACTTCCCCAGTTTTGCGCTCATCTCTGCAATGCTGTGATTGGCTACCTGAGTACTCGCGGTTCCTCAGTAGAT
GGCAGTCCCCTACTGCTATTTCTCCGAGATCAGACGAGTTCCAGACTCCTGGAGCAGGTCCTGCTGGTGTTGGAGCCCCCAAGACTCCAGAGCCTCTTTGAGGAG
CACTTGCAGGGGCAGCTGCAGACCCTGGCTGCACATCCCATTGCCAACTTCCCTTTGCAGCGCTTACTGGATGCAGTCACTACCCCTGAGCTGCTGTCCCCTGTG
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>C14orf21|161424|protein
MGQGPRSPHKVGRRFPAGGKRGRGAKGSGRPLPGRKRQPWPPPDGRSEPAPDSHPHLSPEALGYFRRALSALKEAPETGEERDLMVHNIMKEVETQALALSTNRT
GSEMLQELLGFSPLKPLCRVWAALRSNLRTVACHRCGVHVLQSALLQLPRLLGSAAEEEEEEEEDGKDGPTETLEELVLGLAAEVCDDFLVYCGDTHGSFVVRTL
LQVLGGTILESERARPRGSQSSEAQKTPAQECKPADFEVPETFLNRLQDLSSSFLKDIAVFITDKISSFCLQVALQVLHRKLPQFCAHLCNAVIGYLSTRGSSVD
GSPLLLFLRDQTSSRLLEQVLLVLEPPRLQSLFEEHLQGQLQTLAAHPIANFPLQRLLDAVTTPELLSPVFEELSPVLEAVLAQGHPGVVIALVGACRRVGAYQA
KVLQLLLEAFHCAEPSSRQVACVPLFATLMAYEVYYGLTEEEGAVPAEHQVAMAAARALGDVTVLGSLLLQHLLHFSTPGLVLRSLGALTGPQLLSLAQSPAGSH
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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 (0) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bailey, 1998 - microsatellite-based genomic screenPDD 99 - 99 - - - -
Auranen, 2002 Finland microsatellite-based genomic screenautism 19 - 19 - 54 - -
Ma, 2007 USA SNP-based genomic screenautism 26 - 26 - - - -
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

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