AutismKB 2.0

Evidence Details for C20orf111


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Basic Information Top
Gene Symbol:C20orf111 ( HSPC207,Perit1,dJ1183I21.1 )
Gene Full Name: chromosome 20 open reading frame 111
Band: 20q13.11
Quick LinksEntrez ID:51526; OMIM: NA; Uniprot ID:CT111_HUMAN; ENSEMBL ID: ENSG00000132823; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C20orf111|51526|nucleotide
ATGAAATCCGAAGCCAAGGATGGAGAGGAGGAGAGTCTACAGACTGCTTTCAAAAAATTAAGAGTGGATGCATCAGGGTCTGTAGCATCTCTGTCTGTTGGAGAA
GGCACAGGTGTCAGAGCACCAGTCAGAACAGCAACAGATGATACCAAACCTAAAACCACATGTGCATCTAAAGACAGTTGGCACGGGTCTACAAGGAAGTCTTCA
CGAGGAGCAGTGAGAACTCAGCGTCGTCGACGTTCTAAGTCTCCTGTCCTTCATCCTCCAAAGTTTATACATTGCAGTACAATAGCGTCTTCTTCCAGCAGTCAA
CTCAAGCACAAAAGCCAGACTGACTCACCTGATGGCAGCAGTGGGCTGGGAATTTCATCCCCTAAAGAGTTCAGTGCAGGAGAAAGCTCTACTTCTCTCGATGCT
AATCACACAGGGGCAGTCGTTGAGCCTTTGAGAACTTCTGTTCCAAGGCTCCCATCAGAGAGTAAGAAGGAAGACTCCTCTGACGCTACCCAAGTCCCCCAAGCA
AGTCTCAAAGCCAGTGATCTCTCTGACTTTCAATCAGTTTCCAAGCTAAACCAGGGCAAGCCATGCACATGCATAGGCAAGGAATGCCAGTGTAAGAGATGGCAT
GATATGGAAGTGTATTCCTTTTCAGGCCTGCAGAGTGTCCCTCCCTTGGCTCCAGAACGAAGATCCACACTTGAGGACTACTCTCAGTCGCTGCACGCCAGAACT
CTGTCTGGCTCTCCCCGATCCTGTTCTGAGCAAGCTCGAGTCTTCGTGGATGATGTGACCATTGAGGACCTGTCAGGCTACATGGAGTATTACTTGTATATTCCC
AAGAAAATGTCCCACATGGCAGAAATGATGTACACCTGA


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>C20orf111|51526|protein
MKSEAKDGEEESLQTAFKKLRVDASGSVASLSVGEGTGVRAPVRTATDDTKPKTTCASKDSWHGSTRKSSRGAVRTQRRRRSKSPVLHPPKFIHCSTIASSSSSQ
LKHKSQTDSPDGSSGLGISSPKEFSAGESSTSLDANHTGAVVEPLRTSVPRLPSESKKEDSSDATQVPQASLKASDLSDFQSVSKLNQGKPCTCIGKECQCKRWH
DMEVYSFSGLQSVPPLAPERRSTLEDYSQSLHARTLSGSPRSCSEQARVFVDDVTIEDLSGYMEYYLYIPKKMSHMAEMMYT


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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 (1) 0 (0) 0 (0) 0 (2) 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
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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