AutismKB 2.0

Evidence Details for CCDC14


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Basic Information Top
Gene Symbol:CCDC14 ( DKFZp434L1050,FLJ12892,FLJ41065 )
Gene Full Name: coiled-coil domain containing 14
Band: 3q21.1
Quick LinksEntrez ID:64770; OMIM: NA; Uniprot ID:CCD14_HUMAN; ENSEMBL ID: ENSG00000175455; HGNC ID: 25766
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CCDC14|64770|nucleotide
ATGAAGCGCGGCATTCGGCGGGATCCTTTCCGGAAGCGGAAGCTCGGCGGGCGGGCCAAGAAGGTCCGGGAGCCCACGGCGGTTAATTCTTTTTACCGTGAGGCT
TCACTTCCCTCGGTCTGGGCTTCTCTGAGGCGGCGAGAGATGGTCAGGTCTGGAGCTCGACCGGGCCAGGTGTTATCTTCAGGAAGGCACACTGGACCTGCTAAA
TTAACAAATGGAAAGAAAGCGACCTATTTAAGAAAAATACCACGTTTTAATGCAGATTCTGGCTATTCCATCCATTCTGATTCAGAAAGTCAGGCTGAAACTGTA
CACGGGCTTGATGGTTGTGCTTCTTTGCTGAGGGACATTTTGAGAAATGAAGATTCAGCATCTTCAGATAATAAGAAACAGATACCTAATGAAGCTTCTGCTAGA
AGTGAAAGAGACACATCAGACCTAGAGCAAAACTGGTCATTGCAAGATCATTATAGAATGTATTCACCCATAATATACCAAGCCCTCTGTGAGCACGTGCAGACT
CAGATGTCACTGATGAATGACTTGACTTCAAAGAACATCCCTAATGGAATTCCTGCTGTACCATGCCATGCTCCCTCTCATTCTGAATCTCAGGCAACTCCTCAT
TCTAGTTATGGCTTATGTACCTCCACCCCAGTCTGGTCACTTCAGCGGCCACCCTGCCCTCCAAAGGTTCATTCTGAAGTTCAAACTGATGGCAACAGTCAGTTT
GCATCACAAGGTAAAACAGTTTCTGCAACCTGTACTGATGTTCTACGGAATTCATTTAATACCAGTCCTGGAGTTCCATGTAGCCTGCCCAAAACTGACATATCA
GCTATTCCAACATTGCAGCAACTGGGCCTTGTTAATGGAATTCTGCCACAACAAGGAATTCATAAGGAAACAGACCTACTAAAATGTATTCAAACATATTTGTCT
CTTTTTCGATCTCATGGAAAAGAAACGCATCTGGACAGTCAGACACACCGAAGCCCTACTCAGTCACAACCAGCTTTCTTGGCCACTAATGAAGAAAAATGTGCC
AGAGAGCAAATTAGAGAGGCCACAAGTGAAAGAAAGGATTTAAACATACATGTGCGAGATACAAAAACAGTGAAGGATGTACAGAAGGCAAAAAATGTGAACAAG
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>CCDC14|64770|protein
MKRGIRRDPFRKRKLGGRAKKVREPTAVNSFYREASLPSVWASLRRREMVRSGARPGQVLSSGRHTGPAKLTNGKKATYLRKIPRFNADSGYSIHSDSESQAETV
HGLDGCASLLRDILRNEDSASSDNKKQIPNEASARSERDTSDLEQNWSLQDHYRMYSPIIYQALCEHVQTQMSLMNDLTSKNIPNGIPAVPCHAPSHSESQATPH
SSYGLCTSTPVWSLQRPPCPPKVHSEVQTDGNSQFASQGKTVSATCTDVLRNSFNTSPGVPCSLPKTDISAIPTLQQLGLVNGILPQQGIHKETDLLKCIQTYLS
LFRSHGKETHLDSQTHRSPTQSQPAFLATNEEKCAREQIREATSERKDLNIHVRDTKTVKDVQKAKNVNKTAEKVRIIKYLLGELKALVAEQEDSEIQRLITEME
ACISVLPTVSGNTDIQVEIALAMQPLRSENAQLRRQLRILNQQLREQQKTQKPSGAVDCNLELFSLQSLNMSLQNQLEESLKSQELLQSKNEELLKVIENQKDEN
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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.

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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