AutismKB 2.0

Evidence Details for C2


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Basic Information Top
Gene Symbol:C2 ( CO2,DKFZp779M0311 )
Gene Full Name: complement component 2
Band: 6p21.33
Quick LinksEntrez ID:717; OMIM: 217000; Uniprot ID:CO2_HUMAN; ENSEMBL ID: ENSG00000166278; HGNC ID: 1248
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C2|717|nucleotide
ATGGGCCCACTGATGGTTCTTTTTTGCCTGCTGTTCCTGTACCCAGGTCTGGCAGACTCGGCTCCCTCCTGCCCTCAGAACGTGAATATCTCGGGTGGCACCTTC
ACCCTCAGCCATGGCTGGGCTCCTGGGAGCCTTCTCACCTACTCCTGCCCCCAGGGCCTGTACCCATCCCCAGCATCACGGCTGTGCAAGAGCAGCGGACAGTGG
CAGACCCCAGGAGCCACCCGGTCTCTGTCTAAGGCGGTCTGCAAACCTGTGCGCTGTCCAGCCCCTGTCTCCTTTGAGAATGGCATTTATACCCCACGGCTGGGG
TCCTATCCCGTGGGTGGCAATGTGAGCTTCGAGTGTGAGGATGGCTTCATATTGCGGGGCTCGCCTGTGCGTCAGTGTCGCCCCAACGGCATGTGGGATGGAGAA
ACAGCTGTGTGTGATAATGGGGCTGGCCACTGCCCCAACCCAGGCATTTCACTGGGCGCAGTGCGGACAGGCTTCCGCTTTGGTCATGGGGACAAGGTCCGCTAT
CGCTGCTCCTCGAATCTTGTGCTCACGGGGTCTTCGGAGCGGGAGTGCCAGGGCAACGGGGTCTGGAGTGGAACGGAGCCCATCTGCCGCCAACCCTACTCTTAT
GACTTCCCTGAGGACGTGGCCCCTGCCCTGGGCACTTCCTTCTCCCACATGCTTGGGGCCACCAATCCCACCCAGAAGACAAAGGAAAGCCTGGGCCGTAAAATC
CAAATCCAGCGCTCTGGTCATCTGAACCTCTACCTGCTCCTGGACTGTTCGCAGAGTGTGTCGGAAAATGACTTTCTCATCTTCAAGGAGAGCGCCTCCCTCATG
GTGGACAGGATCTTCAGCTTTGAGATCAATGTGAGCGTTGCCATTATCACCTTTGCCTCAGAGCCCAAAGTCCTCATGTCTGTCCTGAACGACAACTCCCGGGAT
ATGACTGAGGTGATCAGCAGCCTGGAAAATGCCAACTATAAAGATCATGAAAATGGAACTGGGACTAACACCTATGCGGCCTTAAACAGTGTCTATCTCATGATG
AACAACCAAATGCGACTCCTCGGCATGGAAACGATGGCCTGGCAGGAAATCCGACATGCCATCATCCTTCTGACAGATGGAAAGTCCAATATGGGTGGCTCTCCC
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>C2|717|protein
MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPASRLCKSSGQWQTPGATRSLSKAVCKPVRCPAPVSFENGIYTPRLG
SYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGAVRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSY
DFPEDVAPALGTSFSHMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRIFSFEINVSVAIITFASEPKVLMSVLNDNSRD
MTEVISSLENANYKDHENGTGTNTYAALNSVYLMMNNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNINQKRNDYLDIYAIGVGKLDVDW
RELNELGSKKDGERHAFILQDTKALHQVFEHMLDVSKLTDTICGVGNMSANASDQERTPWHVTIKPKSQETCRGALISDQWVLTAAHCFRDGNDHSLWRVNVGDP
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
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
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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