AutismKB 2.0

Evidence Details for C2orf42


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Basic Information Top
Gene Symbol:C2orf42 ( FLJ20558 )
Gene Full Name: chromosome 2 open reading frame 42
Band: 2p13.3
Quick LinksEntrez ID:54980; OMIM: NA; Uniprot ID:CB042_HUMAN; ENSEMBL ID: ENSG00000115998; HGNC ID: 26056
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C2orf42|54980|nucleotide
ATGGAACCAAATTCTCTGAGGACTAAAGTCCCAGCTTTCTTATCTGATTTGGGGAAGGCCACATTGAGGGGAATCAGAAAGTGTCCCCGATGTGGCACATACAAT
GGAACCCGGGGACTGAGCTGTAAGAACAAGACATGTGGAACCATATTCCGCTACGGTGCACGCAAGCAGCCTAGTGTTGAAGCTGTCAAAATCATTACAGGCTCT
GATCTTCAGGTCTACTCAGTGCGGCAAAGAGACCGGGGCCCTGATTACCGATGCTTTGTGGAGCTCGGGGTTTCAGAGACAACAATCCAGACAGTGGATGGGACG
ATCATCACTCAGCTGAGCTCTGGACGGTGTTATGTCCCCTCATGCCTGAAAGCTGCCACTCAAGGCGTTGTGGAAAACCAGTGCCAGCACATCAAGCTGGCGGTG
AACTGCCAGGCAGAGGCCACCCCTCTGACCCTGAAGAGCTCGGTCCTGAATGCAATGCAGGCCTCCCCGGAAACCAAACAGACCATCTGGCAGTTGGCCACGGAA
CCCACAGGTCCTCTGGTGCAGAGAATTACTAAAAACATCTTGGTGGTGAAATGCAAGGCAAGCCAGAAGCACAGTTTGGGGTATTTGCATACATCTTTTGTGCAG
AAAGTCAGTGGCAAAAGCTTGCCTGAGCGCCGCTTCTTCTGCTCCTGTCAGACTCTGAAATCGCACAAGTCAAATGCCTCCAAGGATGAGACAGCCCAGAGATGC
ATTCATTTCTTTGCTTGCATCTGTGCCTTTGCCAGTGATGAGACACTGGCTCAGGAATTCTCAGACTTCCTAAATTTTGATTCCAGCGGTCTTAAAGAGATTATT
GTACCCCAGTTAGGTTGCCATTCAGAATCAACAGTATCTGCTTGTGAGTCTACTGCCTCTAAGTCAAAGAAGAGGAGAAAGGATGAAGTATCTGGTGCACAGATG
AACAGTTCACTACTGCCTCAAGATGCAGTGAGCAGTAATCTAAGGAAAAGTGGCCTGAAAAAGCCTGTGGTTGCTTCCTCGTTAAAAAGGCAGGCCTGTGGTCAG
CTGTTAGATGAGGCACAAGTGACTTTATCCTTCCAAGACTGGCTGGCCAGTGTCACAGAACGCATCCATCAAACCATGCACTATCAGTTTGATGGCAAACCAGAA
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>C2orf42|54980|protein
MEPNSLRTKVPAFLSDLGKATLRGIRKCPRCGTYNGTRGLSCKNKTCGTIFRYGARKQPSVEAVKIITGSDLQVYSVRQRDRGPDYRCFVELGVSETTIQTVDGT
IITQLSSGRCYVPSCLKAATQGVVENQCQHIKLAVNCQAEATPLTLKSSVLNAMQASPETKQTIWQLATEPTGPLVQRITKNILVVKCKASQKHSLGYLHTSFVQ
KVSGKSLPERRFFCSCQTLKSHKSNASKDETAQRCIHFFACICAFASDETLAQEFSDFLNFDSSGLKEIIVPQLGCHSESTVSACESTASKSKKRRKDEVSGAQM
NSSLLPQDAVSSNLRKSGLKKPVVASSLKRQACGQLLDEAQVTLSFQDWLASVTERIHQTMHYQFDGKPEPLVFHIPQSFFDALQQRISIGSAKKRLPNSTTAFV
RKDALPLGTFSKYTWHITNILQVKQILDTPEMPLEITRSFIQNRDGTYELFKCPKVEVESIAETYGRIEKQPVLRPLELKTFLKVGNTSPDQKEPTPFIIEWIPD
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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.

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