AutismKB 2.0

Evidence Details for C11orf49


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Basic Information Top
Gene Symbol:C11orf49 ( FLJ22210,MGC4707 )
Gene Full Name: chromosome 11 open reading frame 49
Band: 11p11.2
Quick LinksEntrez ID:79096; OMIM: NA; Uniprot ID:CK049_HUMAN; ENSEMBL ID: ENSG00000149179; HGNC ID: 28720
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C11orf49|79096|nucleotide
ATGCTGAGTCCGGAGCGCCTAGCCCTACCGGACTACGAGTATCTGGCTCAGCGACATGTCCTCACCTACATGGAGGATGCAGTGTGCCAGCTGCTAGAAAACAGG
GAAGATATTAGCCAATATGGAATTGCCAGGTTCTTCACTGAATATTTTAACAGTGTATGCCAGGGAACACACATTCTCTTTCGAGAATTCAGCTTCGTCCAAGCC
ACCCCCCACAATAGGGTATCATTTTTACGGGCCTTCTGGAGATGCTTCCGAACTGTGGGCAAAAATGGCGATTTGCTGACCATGAAAGAATATCACTGTTTGCTG
CAATTACTGTGTCCTGATTTCCCGCTGGAGCTCACTCAGAAAGCAGCCAGGATTGTGCTCATGGACGATGCCATGGACTGCTTGATGTCTTTTTCAGATTTCCTC
TTTGCCTTCCAGATCCAGTTTTACTACTCAGAATTCCTGGACAGTGTGGCTGCCATCTATGAGGACCTGCTGTCAGGCAAGAACCCCAACACAGTGATTGTGCCG
ACGTCGTCCAGTGGGCAGCACCGCCAACGACCTGCCTTGGGCGGGGCCGGCACGCTGGAGGGCGTGGAGGCGTCGCTGTTCTACCAGTGTCTGGAAAACCTGTGT
GATCGGCACAAGTACAGCTGCCCACCCCCAGCACTTGTCAAAGAGGCCCTCAGCAATGTTCAGAGACTGACCTTCTATGGATTCCTCATGGCTCTCTCAAAGCAC
CGTGGAATCAACCAAGCCCTCGGAGCTTTGCCTGACAAGGGGGATCTGATGCACGACCCAGCAATGGATGAAGAGCTGGAACGGCTGTAA



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>C11orf49|79096|protein
MLSPERLALPDYEYLAQRHVLTYMEDAVCQLLENREDISQYGIARFFTEYFNSVCQGTHILFREFSFVQATPHNRVSFLRAFWRCFRTVGKNGDLLTMKEYHCLL
QLLCPDFPLELTQKAARIVLMDDAMDCLMSFSDFLFAFQIQFYYSEFLDSVAAIYEDLLSGKNPNTVIVPTSSSGQHRQRPALGGAGTLEGVEASLFYQCLENLC
DRHKYSCPPPALVKEALSNVQRLTFYGFLMALSKHRGINQALGALPDKGDLMHDPAMDEELERL


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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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